diff --git a/hp.obo b/hp.obo index 18e10bc63..b6ec72dfc 100644 --- a/hp.obo +++ b/hp.obo @@ -1,5 +1,5 @@ format-version: 1.2 -data-version: releases/2018-01-26 +data-version: releases/2018-03-08 saved-by: Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris Mungall, Melissa Haendel, Nicole Vasilevsky, Monarch Initiative, et al. subsetdef: hposlim_core "Core clinical terminology" subsetdef: secondary_consequence "Consequence of a disorder in another organ system." @@ -148,7 +148,7 @@ id: HP:0000012 name: Urinary urgency def: "Urge incontinence is the strong, sudden need to urinate." [HPO:probinson, pmid:12559262] comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. -synonym: "Overactive bladder" EXACT [orcid.org/0000-0002-0736-9199] +synonym: "Overactive bladder" EXACT layperson [ORCID:0000-0002-0736-9199] synonym: "Overactive bladder syndrome" RELATED [] synonym: "Urgency frequency syndrome" RELATED [] synonym: "Urinary urgency" EXACT layperson [] @@ -166,8 +166,8 @@ alt_id: HP:0008637 def: "Underdevelopment of the uterus." [HPO:probinson] synonym: "Hypoplastic uterus" EXACT [] synonym: "Rudimentary uterus" EXACT [] -synonym: "Small uterus" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped uterus" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small uterus" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped uterus" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:35850006 xref: UMLS:C0266399 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus @@ -217,7 +217,7 @@ is_a: HP:0000009 ! Functional abnormality of the bladder id: HP:0000019 name: Urinary hesitancy def: "Difficulty in beginning the process of urination." [HPO:probinson] -synonym: "Difficulty with flow" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Difficulty with flow" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:5972002 xref: UMLS:C0152032 is_a: HP:0000009 ! Functional abnormality of the bladder @@ -230,7 +230,7 @@ alt_id: HP:0008681 def: "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken, pmid:12559262] comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. synonym: "Bladder incontinence" EXACT [] -synonym: "Loss of bladder control" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Loss of bladder control" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014549 xref: SNOMEDCT_US:165232002 xref: UMLS:C0042024 @@ -271,7 +271,7 @@ is_a: HP:0004299 ! Hernia of the abdominal wall id: HP:0000024 name: Prostatitis def: "The presence of inflammation of the prostate." [HPO:probinson] -synonym: "Inflammation of the prostate" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of the prostate" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D011472 xref: SNOMEDCT_US:9713002 xref: UMLS:C0033581 @@ -289,7 +289,7 @@ id: HP:0000026 name: Male hypogonadism alt_id: HP:0008649 def: "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis." [HPO:probinson] -synonym: "Decreased function of male gonad" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased function of male gonad" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005058 xref: SNOMEDCT_US:48723006 xref: UMLS:C0151721 @@ -300,7 +300,7 @@ is_a: HP:0000135 ! Hypogonadism id: HP:0000027 name: Azoospermia def: "Absence of any measurable level of sperm in his semen." [HPO:probinson, pmid:20514278] -synonym: "Absent sperm in semen" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent sperm in semen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D053713 xref: SNOMEDCT_US:425558002 xref: SNOMEDCT_US:48188009 @@ -313,9 +313,10 @@ name: Cryptorchidism alt_id: HP:0000797 def: "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson, pmid:23650202] comment: The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. -synonym: "Cryptorchism" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Cryptorchism" EXACT [ORCID:0000-0001-5208-3432] synonym: "Undescended testes" EXACT layperson [] synonym: "Undescended testis" EXACT layperson [] +xref: Fyler:4493 xref: MSH:D003456 xref: SNOMEDCT_US:204878001 xref: UMLS:C0010417 @@ -325,7 +326,7 @@ is_a: HP:0000035 ! Abnormality of the testis id: HP:0000029 name: Testicular atrophy def: "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [HPO:probinson] -synonym: "Testicular degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Testicular degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:17585008 xref: UMLS:C0156312 is_a: HP:0000035 ! Abnormality of the testis @@ -476,7 +477,8 @@ is_a: HP:0000050 ! Hypoplastic male external genitalia id: HP:0000047 name: Hypospadias def: "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] -synonym: "Hypospadia" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Hypospadia" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:4504 xref: SNOMEDCT_US:204888000 xref: UMLS:C1691215 is_a: HP:0100627 ! Displacement of the external urethral meatus @@ -486,7 +488,7 @@ id: HP:0000048 name: Bifid scrotum def: "Midline indentation or cleft of the scrotum." [HPO:probinson, pmid:23650202] comment: A testis may or may not be present in each half of the scrotum. -synonym: "Cleft of scrotum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cleft of scrotum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Scrotal cleft" EXACT [] xref: SNOMEDCT_US:236780002 xref: UMLS:C0341787 @@ -509,7 +511,7 @@ alt_id: HP:0008721 def: "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [HPO:probinson] synonym: "Hypoplastic male genitalia" EXACT [] synonym: "Small male external genitalia" EXACT layperson [] -synonym: "Underdeveloped male genitalia" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped male genitalia" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1852534 is_a: HP:0003241 ! External genital hypoplasia @@ -561,7 +563,7 @@ is_a: HP:0010460 ! Abnormality of the female genitalia id: HP:0000056 name: Abnormality of the clitoris def: "An abnormality of the clitoris." [HPO:probinson] -synonym: "Abnormality of the clit" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the clit" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025893 is_a: HP:0000055 ! Abnormality of female external genitalia @@ -584,7 +586,7 @@ name: Hypoplastic labia majora def: "Undergrowth of the outer labia." [HPO:probinson] synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT layperson [] -synonym: "Underdeveloped vaginal lips" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:289469003 xref: UMLS:C0566899 is_a: HP:0000066 ! Labial hypoplasia @@ -596,7 +598,7 @@ name: Clitoral hypoplasia def: "Developmental hypoplasia of the clitoris." [HPO:probinson] synonym: "Hypoplastic clitoris" EXACT [] synonym: "Small clitoris" EXACT layperson [] -synonym: "Underdeveloped clit" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped clit" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844527 is_a: HP:0012815 ! Hypoplastic female external genitalia is_a: HP:0040255 ! Aplasia/Hypoplasia of the clitoris @@ -631,14 +633,14 @@ is_a: HP:0000811 ! Abnormal external genitalia id: HP:0000063 name: Fused labia minora def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] -synonym: "Fused inner lips" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused inner lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837532 is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0000064 name: Hypoplastic labia minora -synonym: "Underdeveloped inner lips" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped inner lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849295 is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012880 ! Abnormality of the labia minora @@ -646,8 +648,8 @@ is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0000065 name: Labial hypertrophy -synonym: "Enlargement of the labia" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlargement of the vaginal lips" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlargement of the labia" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlargement of the vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:16924008 xref: UMLS:C0404531 is_a: HP:0000058 ! Abnormality of the labia @@ -656,7 +658,7 @@ is_a: HP:0000058 ! Abnormality of the labia id: HP:0000066 name: Labial hypoplasia synonym: "Hypoplastic labia" EXACT [] -synonym: "Underdeveloped labia" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped labia" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850325 is_a: HP:0000058 ! Abnormality of the labia is_a: HP:0012815 ! Hypoplastic female external genitalia @@ -700,7 +702,7 @@ is_a: HP:0000069 ! Abnormality of the ureter id: HP:0000071 name: Ureteral stenosis def: "The presence of a stenotic, i.e., constricted ureter." [HPO:probinson] -synonym: "Narrowing of the ureter" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of the ureter" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95574003 xref: UMLS:C0521618 is_a: HP:0006000 ! Ureteral obstruction @@ -742,7 +744,7 @@ is_a: HP:0000071 ! Ureteral stenosis id: HP:0000075 name: Renal duplication def: "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [HPO:probinson] -synonym: "Extra kidney" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra kidney" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Supernumerary kidney" RELATED [] xref: SNOMEDCT_US:30275001 xref: UMLS:C0266298 @@ -760,6 +762,7 @@ def: "Abnormal (retrograde) movement of urine from the bladder into ureters or k synonym: "Ureteral reflux" EXACT [] synonym: "Ureteric reflux" EXACT [] synonym: "Vesicoureteric reflux" EXACT [] +xref: Fyler:4510 xref: MSH:D014718 xref: SNOMEDCT_US:197811007 xref: UMLS:C0042580 @@ -853,6 +856,7 @@ def: "A connection of the right and left kidney by an isthmus of functioning ren synonym: "Fused kidneys" BROAD [] synonym: "Horseshoe kidney" EXACT layperson [] synonym: "Horseshoe kidneys" EXACT layperson [] +xref: Fyler:4507 xref: MSH:D000069337 xref: SNOMEDCT_US:41729002 xref: UMLS:C0221353 @@ -862,7 +866,7 @@ is_a: HP:0100542 ! Abnormal localization of kidney id: HP:0000086 name: Ectopic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [HPO:probinson] -synonym: "Abnormal kidney location" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal kidney location" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Displaced kidney" EXACT layperson [] synonym: "Ectopic kidneys" EXACT [] synonym: "Renal ectopia" EXACT [] @@ -881,7 +885,7 @@ comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in synonym: "Hypoplastic kidney" EXACT [] synonym: "Hypoplastic kidneys" EXACT [] synonym: "Small kidneys" EXACT layperson [] -synonym: "Underdeveloped kidneys" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped kidneys" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:32659003 xref: UMLS:C0266295 is_a: HP:0008678 ! Renal hypoplasia/aplasia @@ -918,7 +922,7 @@ is_a: HP:0000091 ! Abnormality of the renal tubule id: HP:0000093 name: Proteinuria def: "Increased levels of protein in the urine." [HPO:probinson] -synonym: "High urine protein levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine protein levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Protein in urine" EXACT layperson [] xref: MSH:D011507 xref: SNOMEDCT_US:29738008 @@ -1024,8 +1028,9 @@ alt_id: HP:0008680 def: "Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [HPO:probinson] comment: Renal agenesis can occur as a unilateral or bilateral trait. synonym: "Absent kidney" EXACT layperson [] -synonym: "Missing kidney" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Missing kidney" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Renal aplasia" EXACT [] +xref: Fyler:4503 xref: SNOMEDCT_US:204942005 xref: UMLS:C0542519 is_a: HP:0008678 ! Renal hypoplasia/aplasia @@ -1094,7 +1099,7 @@ is_a: HP:0000095 ! Abnormality of renal glomerulus morphology id: HP:0000112 name: Nephropathy def: "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] -synonym: "Kidney damage" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Kidney damage" BROAD layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007674 xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 @@ -1115,6 +1120,7 @@ comment: Polycystic kidney disease (PKD) is a leading cause of end-stage renal d synonym: "Enlarged polycystic kidneys" EXACT [] synonym: "Polycystic kidney disease" EXACT [] synonym: "Polycystic kidneys" EXACT [] +xref: Fyler:4508 xref: MSH:D007690 xref: SNOMEDCT_US:82525005 xref: UMLS:C0022680 @@ -1181,7 +1187,7 @@ id: HP:0000121 name: Nephrocalcinosis def: "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [HPO:probinson] comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. -synonym: "Increased calcium level in kidney" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased calcium level in kidney" RELATED layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009397 xref: SNOMEDCT_US:48638002 xref: UMLS:C0027709 @@ -1192,10 +1198,11 @@ is_a: HP:0012210 ! Abnormal renal morphology id: HP:0000122 name: Unilateral renal agenesis def: "A unilateral form of agenesis of the kidney." [HPO:probinson] -synonym: "Absent kidney on one side" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Missing one kidney" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent kidney on one side" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Missing one kidney" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Single kidney" EXACT layperson [] synonym: "Unilateral kidney agenesis" EXACT [] +xref: Fyler:4509 xref: SNOMEDCT_US:55726006 xref: UMLS:C0266294 is_a: HP:0000104 ! Renal agenesis @@ -1205,7 +1212,7 @@ id: HP:0000123 name: Nephritis alt_id: HP:0008634 def: "The presence of inflammation affecting the kidney." [HPO:probinson] -synonym: "Kidney inflammation" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Kidney inflammation" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D009393 xref: SNOMEDCT_US:52845002 xref: UMLS:C0027697 @@ -1225,7 +1232,7 @@ is_a: HP:0012211 ! Abnormal renal physiology id: HP:0000125 name: Pelvic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [HPO:probinson] -synonym: "Sacral kidney" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Sacral kidney" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:56108007 xref: UMLS:C0221209 is_a: HP:0000086 ! Ectopic kidney @@ -1235,6 +1242,7 @@ id: HP:0000126 name: Hydronephrosis def: "Severe distention of the kidney with dilation of the renal pelvis and calices." [HPO:probinson] comment: Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. +xref: Fyler:4502 xref: MSH:D006869 xref: SNOMEDCT_US:43064006 xref: UMLS:C0020295 @@ -1292,7 +1300,7 @@ id: HP:0000132 name: Menorrhagia alt_id: HP:0100609 def: "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." [HPO:probinson, pmid:22594864] -synonym: "Abnormally heavy bleeding during menstruation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally heavy bleeding during menstruation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypermenorrhea" EXACT [pmid:22594864] xref: MSH:D008595 xref: SNOMEDCT_US:386692008 @@ -1332,7 +1340,7 @@ id: HP:0000135 name: Hypogonadism def: "A decreased functionality of the gonad." [HPO:curators] comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. -synonym: "Decreased activity of gonads" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Decreased activity of gonads" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007006 xref: SNOMEDCT_US:48130008 xref: UMLS:C0020619 @@ -1380,7 +1388,7 @@ name: Uterine prolapse alt_id: HP:0100824 def: "The presence of prolapse of the uterus." [HPO:probinson] comment: The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. -synonym: "Sagging uterus" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Sagging uterus" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D014596 xref: SNOMEDCT_US:24976005 xref: UMLS:C0042140 @@ -1402,7 +1410,7 @@ is_a: HP:0000858 ! Menstrual irregularities id: HP:0000141 name: Amenorrhea def: "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months." [pmid:22594864] -synonym: "Abnormal absence of menstruation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal absence of menstruation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2219717 is_a: HP:0000140 ! Abnormality of the menstrual cycle @@ -1529,7 +1537,7 @@ comment: The width of the mouth varies with facial movement and must be assessed subset: hposlim_core synonym: "Broad mouth" EXACT layperson [] synonym: "Large mouth" EXACT layperson [] -synonym: "Large oral aperture" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Large oral aperture" EXACT [ORCID:0000-0001-5889-4463] synonym: "Macrostomia" EXACT [] synonym: "Wide mouth" EXACT layperson [] xref: MSH:D008265 @@ -1542,8 +1550,8 @@ id: HP:0000155 name: Oral ulcer def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [HPO:probinson] subset: hposlim_core -synonym: "Mouth sore" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Mouth ulcer" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Mouth sore" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Mouth ulcer" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D019226 xref: SNOMEDCT_US:26284000 xref: UMLS:C0149745 @@ -1556,8 +1564,8 @@ def: "Any abnormality of the tongue." [HPO:probinson] subset: hposlim_core synonym: "Abnormal tongue" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the tongue" EXACT layperson [] -synonym: "Glossal abnormality" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lingual abnormality" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Glossal abnormality" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lingual abnormality" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tongue abnormality" EXACT layperson [] xref: UMLS:C0878638 is_a: HP:0000163 ! Abnormality of the oral cavity @@ -1569,14 +1577,14 @@ alt_id: HP:0000203 def: "Increased length and width of the tongue." [pmid:19125428] comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. subset: hposlim_core -synonym: "Abnormally large tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Glossal hypertrophy" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally large tongue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Glossal hypertrophy" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of the tongue" EXACT [] synonym: "Hypertrophy of the tongue" EXACT [] -synonym: "Increased size of tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased size of tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large tongue" EXACT layperson [] -synonym: "Lingual hyperplasia" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Lingual hypertrophy" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Lingual hyperplasia" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Lingual hypertrophy" BROAD [ORCID:0000-0001-5889-4463] synonym: "Tongue hypertrophy" EXACT [] xref: MSH:D008260 xref: SNOMEDCT_US:25273001 @@ -1590,10 +1598,10 @@ name: Abnormality of the lip def: "An abnormality of the lip." [HPO:probinson] synonym: "Abnormal lip" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the lip" EXACT layperson [] -synonym: "Anomaly of lip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of lip" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of lip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Lip abnormality" EXACT layperson [] -synonym: "Malformation of lip" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Malformation of lip" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2183966 is_a: HP:0000153 ! Abnormality of the mouth @@ -1620,7 +1628,7 @@ id: HP:0000161 name: Median cleft lip def: "A type of cleft lip presenting as a midline (median) gap in the upper lip." [HPO:probinson] subset: hposlim_core -synonym: "Central cleft upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Central cleft upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midline cleft lip" EXACT [] xref: UMLS:C1850256 is_a: HP:0000204 ! Cleft upper lip @@ -1631,9 +1639,9 @@ name: Glossoptosis def: "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly." [HPO:probinson, pmid:19125428] comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. subset: hposlim_core -synonym: "Lingual retraction" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Posterior displacement of the tongue" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Retraction of the tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lingual retraction" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Posterior displacement of the tongue" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Retraction of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D065710 xref: SNOMEDCT_US:3639002 xref: UMLS:C0267048 @@ -1659,7 +1667,7 @@ comment: Any abnormality of the primary (deciduous) or permanent teeth. subset: hposlim_core synonym: "Abnormal dentition" EXACT layperson [] synonym: "Abnormal teeth" EXACT layperson [] -synonym: "Abnormality of the teeth" RELATED [] {synonymtypedef="layperson"} +synonym: "Abnormality of the teeth" RELATED layperson [] synonym: "Dental abnormalities" EXACT layperson [] synonym: "Dental abnormality" EXACT layperson [] synonym: "Dental anomalies" EXACT HP:0045078 [] @@ -1676,9 +1684,9 @@ is_a: HP:0000163 ! Abnormality of the oral cavity id: HP:0000166 name: Severe periodontitis def: "A severe form of periodontitis." [HPO:probinson] -synonym: "Severe gum disease" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Severe periodontal disease" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Severe pyorrhea" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Severe gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Severe periodontal disease" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Severe pyorrhea" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025886 is_a: HP:0000704 ! Periodontitis @@ -1688,7 +1696,7 @@ name: Abnormality of the gingiva def: "Any abnormality of the gingiva (also known as gums)." [HPO:probinson] comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. subset: hposlim_core -synonym: "Abnormality of the gums" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the gums" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Gingival abnormality" EXACT [] xref: UMLS:C4021816 is_a: HP:0011830 ! Abnormality of oral mucosa @@ -1701,8 +1709,8 @@ comment: Gingival fibromatosis is characterized by a slowly progressive benign e subset: hposlim_core synonym: "Gingival fibroma" EXACT [] synonym: "Gingival fibrous nodules" EXACT [HPO:curators] -synonym: "Hereditary gingival fibromatosis" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Idiopathic gingival hyperplasia" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Hereditary gingival fibromatosis" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Idiopathic gingival hyperplasia" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:C562884 xref: MSH:D005351 xref: SNOMEDCT_US:109620006 @@ -1721,7 +1729,7 @@ alt_id: HP:0009079 def: "Decreased length and width of the tongue." [pmid:19125428] comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. subset: hposlim_core -synonym: "Abnormally small tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally small tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of tongue" EXACT [] synonym: "Hypoglossia" EXACT [] synonym: "Hypoplasia of the tongue" EXACT [] @@ -1729,7 +1737,7 @@ synonym: "Hypoplastic tongue" EXACT [] synonym: "Lingual hypoplasia" EXACT [] synonym: "Rudimentary tongue" EXACT [] synonym: "Small tongue" EXACT [] -synonym: "Underdevelopment of the tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Underdevelopment of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D014060 xref: SNOMEDCT_US:249380003 xref: SNOMEDCT_US:32614006 @@ -1742,7 +1750,7 @@ id: HP:0000172 name: Abnormality of the uvula def: "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of palatine uvula" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of palatine uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the uvula" EXACT layperson [] xref: UMLS:C4025885 is_a: HP:0100736 ! Abnormality of the soft palate @@ -1753,7 +1761,7 @@ name: Abnormality of the palate def: "Any abnormality of the palate, i.e., of roof of the mouth." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the palate" EXACT layperson [] -synonym: "Abnormality of the roof of the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Palate abnormality" EXACT [] xref: UMLS:C4021815 is_a: HP:0000163 ! Abnormality of the oral cavity @@ -1764,12 +1772,13 @@ name: Cleft palate def: "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [HPO:probinson] comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. subset: hposlim_core -synonym: "Cleft hard and soft palate" EXACT [http://orcid.org/0000-0001-5208-3432, http://orcid.org/0000-0001-5889-4463] -synonym: "Cleft of hard and soft palate" EXACT [http://orcid.org/0000-0001-5208-3432, http://orcid.org/0000-0001-5889-4463] +synonym: "Cleft hard and soft palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Cleft of hard and soft palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Cleft of palate" EXACT [Facebase] synonym: "Cleft palate" EXACT layperson [] -synonym: "Palatoschisis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Uranostaphyloschisis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Palatoschisis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Uranostaphyloschisis" EXACT [ORCID:0000-0001-5889-4463] +xref: Fyler:4876 xref: MSH:D002972 xref: SNOMEDCT_US:63567004 xref: SNOMEDCT_US:87979003 @@ -1785,7 +1794,7 @@ alt_id: HP:0000208 alt_id: HP:0002746 alt_id: HP:0009091 def: "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [HPO:probinson, pmid:19779505] -synonym: "Partial thickness cleft hard palate" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Partial thickness cleft hard palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Submucosal cleft palate" EXACT [] synonym: "Submucous clefting" RELATED [] xref: SNOMEDCT_US:43437003 @@ -1799,9 +1808,9 @@ name: Abnormality of upper lip def: "An abnormality of the upper lip." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of upper lip" EXACT layperson [] -synonym: "Anomaly of the upper lip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the upper lip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the upper lip" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025884 is_a: HP:0000159 ! Abnormality of the lip @@ -1811,9 +1820,9 @@ name: Abnormality of lower lip def: "An abnormality of the lower lip." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of lower lip" EXACT layperson [] -synonym: "Anomaly of the lower lip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the lower lip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the lower lip" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025883 is_a: HP:0000159 ! Abnormality of the lip @@ -1824,15 +1833,15 @@ alt_id: HP:0000170 def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [HPO:curators, pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. synonym: "Full lower lip" RELATED layperson [] -synonym: "Full lower lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased height of lower lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased volume of lower lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased volume of lower lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Plump lower lip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Full lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased height of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased volume of lower lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased volume of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Plump lower lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent lower lip" EXACT layperson [] -synonym: "Prominent lower lip vermilion" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Prominent lower lip vermilion" NARROW [ORCID:0000-0001-5889-4463] synonym: "Thick lower lip" RELATED layperson [] -synonym: "Thick red part of the lower lip" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thick red part of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Thick vermilion border of lower lip" EXACT [] xref: UMLS:C1839739 xref: UMLS:C2053437 @@ -1845,8 +1854,8 @@ name: Lobulated tongue def: "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [pmid:19125428] comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes. subset: hposlim_core -synonym: "Bumpy tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Lingual lobules" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Bumpy tongue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Lingual lobules" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lobulate tongue" EXACT [] xref: SNOMEDCT_US:253752000 xref: UMLS:C0431564 @@ -1855,7 +1864,7 @@ is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000182 name: Movement abnormality of the tongue -synonym: "Abnormality of lingual movement" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of lingual movement" EXACT [ORCID:0000-0001-5889-4463] synonym: "Movement abnormality of the tongue" EXACT layperson [] xref: UMLS:C4025882 is_a: HP:0030810 ! Abnormal tongue physiology @@ -1863,10 +1872,10 @@ is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0000183 name: Difficulty in tongue movements -synonym: "Difficulty in lingual movements" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Difficulty in lingual movements" EXACT [ORCID:0000-0001-5889-4463] synonym: "Difficulty in tongue movements" EXACT layperson [] -synonym: "Hypokinesia of the tongue" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Lingual hypokinesia" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Hypokinesia of the tongue" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Lingual hypokinesia" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C1853406 xref: UMLS:C4280676 is_a: HP:0000182 ! Movement abnormality of the tongue @@ -1875,9 +1884,9 @@ is_a: HP:0000182 ! Movement abnormality of the tongue id: HP:0000185 name: Cleft soft palate def: "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [HPO:curators] -synonym: "Cleft muscular palate" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Cleft of soft palate" EXACT [http://orcid.org/0000-0001-5208-3432] -synonym: "Cleft velum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cleft muscular palate" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Cleft of soft palate" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Cleft velum" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C562950 xref: SNOMEDCT_US:253997002 xref: UMLS:C0432098 @@ -1888,10 +1897,10 @@ is_a: HP:0410004 ! Cleft secondary palate id: HP:0000187 name: Broad alveolar ridges synonym: "Broad alveolar margins" EXACT [] -synonym: "Broad alveolar processes of jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Wide alveolar margins" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Wide alveolar processes of jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Wide gum ridges" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Broad alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Wide alveolar margins" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Wide alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Wide gum ridges" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Widened alveolar ridges" EXACT [] xref: UMLS:C1857500 xref: UMLS:C4280675 @@ -1902,13 +1911,13 @@ id: HP:0000188 name: Short upper lip alt_id: HP:0200087 def: "Decreased width of the upper lip." [HPO:probinson] -synonym: "Decreased height of upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased upper labial height" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased upper labial length" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased vertical length of upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased upper labial height" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased upper labial length" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased vertical length of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short upper lip" EXACT layperson [] -synonym: "Shortening of upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Vertical deficiency of upper lip" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Shortening of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Vertical deficiency of upper lip" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1848977 is_a: HP:0000177 ! Abnormality of upper lip @@ -1918,10 +1927,10 @@ name: Narrow palate def: "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. subset: hposlim_core -synonym: "Decreased palatal width" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased transverse dimension of palate" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased palatal width" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased transverse dimension of palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Narrow palate" EXACT layperson [] -synonym: "Narrow roof of mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Narrow roof of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1398312 is_a: HP:0000174 ! Abnormality of the palate @@ -1931,7 +1940,7 @@ name: Abnormal oral frenulum morphology def: "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [HPO:probinson, PMID:23633765] comment: A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. synonym: "Abnormality of oral frenula" EXACT [] -synonym: "Abnormality of oral frenum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of oral frenum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025881 is_a: HP:0000163 ! Abnormality of the oral cavity @@ -1941,12 +1950,12 @@ name: Accessory oral frenulum def: "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [pmid:19125428] comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. subset: hposlim_core -synonym: "Accessory oral frenum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Accessory oral frenum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Extra oral frenulum" EXACT [] -synonym: "Extra oral frenum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Extra oral frenum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple oral frenula" EXACT [] synonym: "Supernumerary oral frenulum" EXACT [] -synonym: "Supernumerary oral frenum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Supernumerary oral frenum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021814 is_a: HP:0000190 ! Abnormal oral frenulum morphology @@ -1956,10 +1965,10 @@ name: Bifid uvula alt_id: HP:0000173 def: "Uvula separated into two parts most easily seen at the tip." [pmid:19125428] subset: hposlim_core -synonym: "Bifid palatine uvula" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Bifid palatine uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft uvula" EXACT [] -synonym: "Forked uvula" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Split uvula" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Forked uvula" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Split uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Uvula bifida" EXACT [] xref: SNOMEDCT_US:18910001 xref: UMLS:C0266122 @@ -1969,11 +1978,11 @@ is_a: HP:0000172 ! Abnormality of the uvula id: HP:0000194 name: Open mouth def: "A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson] -synonym: "Gaped jawed appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Gaped mouthed appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Gaped jawed appearance" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Gaped mouthed appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Open mouth" EXACT layperson [] synonym: "Open mouth appearance" RELATED layperson [HPO:skoehler] -synonym: "Slack jawed appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Slack jawed appearance" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:262016004 xref: UMLS:C0240379 is_a: HP:0011338 ! Abnormality of mouth shape @@ -1991,21 +2000,21 @@ is_a: HP:0100269 ! Paramedian lip pit id: HP:0000197 name: Abnormality of parotid gland def: "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [HPO:curators] -synonym: "Anomaly of the parotid gland" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the parotid gland" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025880 is_a: HP:0010286 ! Abnormal salivary gland morphology [Term] id: HP:0000198 name: Absence of Stensen duct -synonym: "Absence of parotid duct" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Absence of parotid duct" EXACT [ORCID:0000-0001-5889-4463] synonym: "Absent stensen duct" EXACT [] -synonym: "Agenesis of parotid duct" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of stensen duct" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of parotid duct" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of stensen duct" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing parotid duct" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing stensen duct" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of parotid duct" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of stensen duct" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of parotid duct" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of stensen duct" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing parotid duct" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing stensen duct" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1858569 xref: UMLS:C4280674 is_a: HP:0000197 ! Abnormality of parotid gland @@ -2013,7 +2022,7 @@ is_a: HP:0000197 ! Abnormality of parotid gland [Term] id: HP:0000199 name: Tongue nodules -synonym: "Lingual nodules" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Lingual nodules" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C0241438 is_a: HP:0030809 ! Abnormal tongue morphology @@ -2021,15 +2030,15 @@ is_a: HP:0030809 ! Abnormal tongue morphology id: HP:0000200 name: Short lingual frenulum def: "The presence of an abnormally short lingual frenulum." [HPO:probinson] -synonym: "Deficiency of lingual frenulum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of lingual frenulum" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of lingual frenum" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of tongue frenulum" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of tongue frenum" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Short lingual frenum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Deficiency of lingual frenulum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of lingual frenulum" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of lingual frenum" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of tongue frenulum" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of tongue frenum" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Short lingual frenum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short tongue frenulum" EXACT [] -synonym: "Short tongue frenum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Tight lingual frenulum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Short tongue frenum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Tight lingual frenulum" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249388005 xref: UMLS:C0426501 xref: UMLS:C4280673 @@ -2040,9 +2049,9 @@ id: HP:0000201 name: Pierre-Robin sequence def: "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [HPO:probinson] synonym: "Pierre Robin sequence" EXACT [] -synonym: "Pierre-robin anomaly" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Pierre-robin deformity" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Pierre-robin malformation" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Pierre-robin anomaly" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Pierre-robin deformity" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Pierre-robin malformation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Robin sequence" EXACT [] xref: MSH:D010855 xref: SNOMEDCT_US:4602007 @@ -2055,7 +2064,7 @@ name: Oral cleft def: "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson] synonym: "Cleft lip, cleft palate" NARROW [] synonym: "Cleft lip/palate" RELATED [] -synonym: "Cleft of the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cleft of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Oral clefting" EXACT [] xref: SNOMEDCT_US:253983005 xref: SNOMEDCT_US:66948001 @@ -2067,10 +2076,11 @@ is_a: HP:0000153 ! Abnormality of the mouth id: HP:0000204 name: Cleft upper lip def: "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] -synonym: "Cheiloschisis of upper lip" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cheiloschisis of upper lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft of upper lip" RELATED layperson [] synonym: "Cleft upper lip" EXACT layperson [] -synonym: "Harelip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Harelip" EXACT layperson [ORCID:0000-0001-5889-4463] +xref: Fyler:4875 xref: MSH:D002971 xref: SNOMEDCT_US:80281008 xref: UMLS:C0008924 @@ -2082,7 +2092,7 @@ id: HP:0000205 name: Pursed lips def: "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [HPO:probinson] synonym: "Pursed lips" EXACT layperson [] -synonym: "Tightly closed lips" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Tightly closed lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1832130 is_a: HP:0011338 ! Abnormality of mouth shape @@ -2091,9 +2101,9 @@ id: HP:0000206 name: Glossitis def: "Inflammation of the tongue." [HPO:sdoelken] subset: hposlim_core -synonym: "Inflammation of the tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Lingual inflammation" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Smooth swollen tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Inflammation of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Lingual inflammation" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Smooth swollen tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005928 xref: SNOMEDCT_US:45534005 xref: UMLS:C0017675 @@ -2105,7 +2115,7 @@ name: Triangular mouth def: "The presence of a triangular form of the mouth." [HPO:probinson] synonym: "Triangular mouth" EXACT layperson [] synonym: "Triangular shaped mouth" EXACT layperson [] -synonym: "Triangular shaped oral aperture" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Triangular shaped oral aperture" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849341 is_a: HP:0011338 ! Abnormality of mouth shape @@ -2113,19 +2123,19 @@ is_a: HP:0011338 ! Abnormality of mouth shape id: HP:0000211 name: Trismus def: "Limitation in the ability to open the mouth." [HPO:curators] -synonym: "Decrease in jaw mobility" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decrease in jaw movement" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decrease in jaw opening" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decrease in mandibular mobility" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Decrease in mandibular movement" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Decrease in mandibular opening" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Limited jaw mobility" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Limited jaw movement" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Limited jaw opening" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Limited mandibular mobility" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Limited mandibular opening" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Decrease in jaw mobility" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Decrease in jaw movement" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Decrease in jaw opening" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Decrease in mandibular mobility" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Decrease in mandibular movement" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Decrease in mandibular opening" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Limited jaw mobility" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Limited jaw movement" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Limited jaw opening" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Limited mandibular mobility" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Limited mandibular opening" BROAD [ORCID:0000-0001-5889-4463] synonym: "Limited mouth opening" BROAD layperson [] -synonym: "Pain of muscles of mastication" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Pain of muscles of mastication" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D014313 xref: SNOMEDCT_US:87866006 xref: UMLS:C0041105 @@ -2141,10 +2151,10 @@ alt_id: HP:0000195 def: "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [pmid:19125428] comment: This finding is to be distinguished from overgrowth of the alveolar ridge. subset: hposlim_core -synonym: "Gingival enlargement" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Gingival enlargement" EXACT [ORCID:0000-0001-5889-4463] synonym: "Gingival hyperplasia" EXACT [] synonym: "Gingival hypertrophy" EXACT [] -synonym: "Gum enlargement" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Gum enlargement" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Gum hypertrophy" EXACT [] synonym: "Oral soft tissue hyperplasia" RELATED [] xref: MSH:D005885 @@ -2162,11 +2172,11 @@ is_a: HP:0000168 ! Abnormality of the gingiva id: HP:0000214 name: Lip telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips." [HPO:probinson] -synonym: "Angioectasias of the lip" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Labial angioectasias" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Labial telangiectasia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Angioectasias of the lip" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Labial angioectasias" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Labial telangiectasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lip telangiectases" EXACT [] -synonym: "Spider veins of the lip" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Spider veins of the lip" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Telangiectasia of the lips" EXACT [HPO:skoehler] xref: UMLS:C1857697 xref: UMLS:C4280670 @@ -2181,15 +2191,15 @@ alt_id: HP:0000231 def: "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. subset: hposlim_core -synonym: "Full upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Full upper lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased height of upper lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased volume of upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased volume of upper lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Plump upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Full upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Full upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased height of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased volume of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased volume of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Plump upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent upper lip" EXACT layperson [] -synonym: "Prominent upper lip vermilion" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Thick red part of the upper lip" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Prominent upper lip vermilion" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Thick red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Thick upper lip" EXACT layperson [HPO:sdoelken] synonym: "Thick vermilion border of upper lip" EXACT [] xref: UMLS:C1846423 @@ -2210,7 +2220,7 @@ alt_id: HP:0002709 alt_id: HP:0100756 def: "Dryness of the mouth due to salivary gland dysfunction." [HPO:probinson] subset: hposlim_core -synonym: "Decreased salivary flow" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased salivary flow" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Dry mouth" EXACT layperson [] synonym: "Dry mouth syndrome" EXACT layperson [] synonym: "Reduced salivation" EXACT layperson [] @@ -2230,11 +2240,11 @@ alt_id: HP:0009082 alt_id: HP:0009097 def: "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. -synonym: "Elevated palate" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Elevated palate" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "High palate" EXACT layperson [] synonym: "High, arched palate" EXACT [] synonym: "High-arched palate" EXACT [] -synonym: "Increased palatal height" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased palatal height" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:27272007 xref: UMLS:C0240635 is_a: HP:0000174 ! Abnormality of the palate @@ -2247,10 +2257,10 @@ alt_id: HP:0200086 def: "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. subset: hposlim_core -synonym: "Decreased height of upper lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of upper lip" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of upper lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Thin red part of the upper lip" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of upper lip" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Thin red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Thin upper lip" EXACT layperson [HPO:skoehler] synonym: "Thin upper lips" RELATED [HPO:skoehler] synonym: "Thin vermilion border of upper lip" EXACT [] @@ -2262,7 +2272,7 @@ is_a: HP:0011339 ! Abnormality of upper lip vermillion id: HP:0000220 name: Velopharyngeal insufficiency def: "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [DDD:jhurst] -synonym: "Velopharyngeal dysfunction" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Velopharyngeal dysfunction" BROAD [ORCID:0000-0001-5889-4463] synonym: "Velopharyngeal incompetence" EXACT layperson [] xref: MSH:D014681 xref: SNOMEDCT_US:229727006 @@ -2279,8 +2289,8 @@ def: "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19 comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. subset: hposlim_core synonym: "Fissured tongue" EXACT [HPO:skoehler] -synonym: "Grooved tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Lingual furrow" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Grooved tongue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Lingual furrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lingue plicata" EXACT [HPO:skoehler] synonym: "Plicated tongue" EXACT [HPO:skoehler] synonym: "Prominent tongue grooves" EXACT [] @@ -2325,8 +2335,8 @@ id: HP:0000225 name: Gingival bleeding alt_id: HP:0000167 def: "Hemorrhage affecting the gingiva." [HPO:ibailleulforestier] -synonym: "Bleeding gums" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Gingival hemorrhage" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Bleeding gums" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Gingival hemorrhage" EXACT [ORCID:0000-0001-5889-4463] synonym: "Gingivorrhagia" EXACT [] xref: MSH:D005884 xref: SNOMEDCT_US:86276007 @@ -2338,10 +2348,10 @@ is_a: HP:0001892 ! Abnormal bleeding id: HP:0000227 name: Tongue telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue." [HPO:probinson] -synonym: "Angioectasias of the tongue" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Lingual angioectasias" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Lingual telangiectasia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Spider veins of the tongue" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Angioectasias of the tongue" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Lingual angioectasias" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Lingual telangiectasia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Spider veins of the tongue" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025878 xref: UMLS:C4280668 is_a: HP:0000228 ! Oral cavity telangiectasia @@ -2351,11 +2361,11 @@ is_a: HP:0030809 ! Abnormal tongue morphology id: HP:0000228 name: Oral cavity telangiectasia def: "Presence of telangiectases in the oral cavity." [HPO:probinson] -synonym: "Angioectasias of the mouth" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Angioectasias of the oral cavity" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Angioectasias of the mouth" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Angioectasias of the oral cavity" RELATED [ORCID:0000-0001-5889-4463] synonym: "Oral cavity teleangiectasia" EXACT [] -synonym: "Spider veins of the mouth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Spider veins of the oral cavity" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Spider veins of the mouth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Spider veins of the oral cavity" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4025877 xref: UMLS:C4280667 is_a: HP:0011830 ! Abnormality of oral mucosa @@ -2366,9 +2376,9 @@ id: HP:0000230 name: Gingivitis def: "Inflammation of the gingiva." [HPO:probinson] subset: hposlim_core -synonym: "Gingival inflammation" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Inflamed gums" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Red and swollen gums" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Gingival inflammation" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Inflamed gums" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Red and swollen gums" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005891 xref: SNOMEDCT_US:66383009 xref: UMLS:C0017574 @@ -2387,10 +2397,10 @@ def: "An abnormal configuration of the lower lip such that it is turned outward comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. subset: hposlim_core synonym: "Drooping lower lip" EXACT layperson [] -synonym: "Eclabium of lower lip" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Eclabium of lower lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Everted lower lip" EXACT [] synonym: "Everted prominent lower lip" EXACT [] -synonym: "Outward turned lower lip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Outward turned lower lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding lower lip" RELATED layperson [] xref: UMLS:C1853246 xref: UMLS:C1866234 @@ -2403,8 +2413,8 @@ name: Thin vermilion border alt_id: HP:0000213 def: "Reduced width of the skin of vermilion border region of upper lip." [HPO:probinson] comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. -synonym: "Decreased volume of lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of lip vermillion" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased volume of lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of lip vermillion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin lips" EXACT layperson [] synonym: "Thin vermilion borders" RELATED [HPO:skoehler] synonym: "Thin vermillion" EXACT [] @@ -2434,7 +2444,7 @@ is_a: HP:0002683 ! Abnormality of the calvaria id: HP:0000236 name: Abnormality of the anterior fontanelle def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [HPO:curators] -synonym: "Abnormality of the forehead soft spot" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the forehead soft spot" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025875 is_a: HP:0011328 ! Abnormality of fontanelles @@ -2443,7 +2453,7 @@ id: HP:0000237 name: Small anterior fontanelle def: "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms." [HPO:probinson] synonym: "Small anterior fontanel" EXACT [] -synonym: "Small forehead fontanel" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Small forehead fontanel" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1859455 is_a: HP:0000236 ! Abnormality of the anterior fontanelle @@ -2469,14 +2479,14 @@ alt_id: HP:0004473 def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:probinson] comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). synonym: "Enlarged fontanelles" EXACT [] -synonym: "Large bregma sutures" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Large bregma sutures" NARROW [ORCID:0000-0001-5889-4463] synonym: "Large fontanel" EXACT [] synonym: "Large fontanelle" EXACT [] synonym: "Large fontanels" EXACT [] -synonym: "Large, late-closing fontanelle" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Large, late-closing fontanelle" NARROW [ORCID:0000-0001-5889-4463] synonym: "Persistent wide fontanel" EXACT [] -synonym: "Wide bregma sutures" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Wide fontanelles" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Wide bregma sutures" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Wide fontanelles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:276709006 xref: UMLS:C0456132 xref: UMLS:C4072820 @@ -2488,8 +2498,8 @@ is_a: HP:0011328 ! Abnormality of fontanelles id: HP:0000240 name: Abnormality of skull size def: "Any abnormality of the size of the skull." [HPO:curators] -synonym: "Abnormality of cranium size" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of head size" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of cranium size" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of head size" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of skull size" EXACT layperson [] xref: UMLS:C4025874 is_a: HP:0000929 ! Abnormality of the skull @@ -2510,12 +2520,12 @@ name: Trigonocephaly def: "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." [pmid:19125436] comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. subset: hposlim_core -synonym: "Triangular cranium shape" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Triangular head shape" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Triangular skull shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wedge shaped cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Wedge shaped head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wedge shaped skull" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Triangular cranium shape" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Triangular head shape" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Triangular skull shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Wedge shaped cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Wedge shaped head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Wedge shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:28740008 xref: UMLS:C0265535 @@ -2536,7 +2546,7 @@ id: HP:0000245 name: Abnormality of the paranasal sinuses def: "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses." [HPO:curators] synonym: "Abnormality of the sinuses" BROAD layperson [] -synonym: "Abnormality of the sinuses of the head" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the sinuses of the head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025873 is_a: HP:0011821 ! Abnormality of facial skeleton @@ -2545,9 +2555,9 @@ id: HP:0000246 name: Sinusitis def: "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [HPO:probinson] subset: hposlim_core -synonym: "Sinus disease" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Sinus infection" BROAD layperson [] -synonym: "Sinus inflammation" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Sinus inflammation" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D010254 xref: MSH:D012852 xref: SNOMEDCT_US:36971009 @@ -2566,12 +2576,12 @@ alt_id: HP:0008512 def: "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [HPO:probinson, pmid:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. subset: hposlim_core -synonym: "Broad cranium shape" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Broad head shape" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Broad skull shape" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide cranium shape" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Wide head shape" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide skull shape" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Broad cranium shape" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Broad head shape" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Broad skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide cranium shape" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Wide head shape" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:13649004 xref: UMLS:C0221356 @@ -2583,7 +2593,7 @@ is_a: HP:0002648 ! Abnormality of calvarial morphology id: HP:0000250 name: Dense calvaria def: "An abnormal increase of density of the bones making up the calvaria." [HPO:curators] -synonym: "Dense skull cap" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dense skull cap" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1854834 is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004330 ! Increased skull ossification @@ -2598,19 +2608,20 @@ alt_id: HP:0005497 def: "Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium." [pmid:19125436, pmid:9683597] comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. subset: hposlim_core -synonym: "Abnormally small cranium" EXACT [hpo:orcid.org/0000-0001-5889-4463] -synonym: "Abnormally small head" BROAD layperson [hpo:orcid.org/0000-0001-5889-4463] -synonym: "Abnormally small skull" EXACT layperson [hpo:orcid.org/0000-0001-5889-4463] -synonym: "Decreased circumference of cranium" EXACT layperson [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of skull" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally small cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormally small head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormally small skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased circumference of cranium" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Reduced head circumference" EXACT layperson [] -synonym: "small calvarium" EXACT [HPO:orcid.org/0000-0001-5889-4463] -synonym: "small cranium" EXACT [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Small head" BROAD layperson [HPO:orcid.org/0000-0001-5889-4463] +synonym: "small calvarium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "small cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Small head circumference" EXACT layperson [] -synonym: "Small skull" BROAD layperson [HPO:orcid.org/0000-0001-5889-4463] +synonym: "Small skull" BROAD layperson [ORCID:0000-0001-5889-4463] +xref: Fyler:4310 xref: SNOMEDCT_US:271611007 xref: UMLS:C0424688 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum @@ -2622,8 +2633,8 @@ name: Progressive microcephaly def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:probinson] synonym: "Microcephaly, postnatal, progressive" EXACT [] synonym: "Microcephaly, progressive" EXACT [HPO:skoehler] -synonym: "Progressively abnormally small cranium" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Progressively abnormally small skull" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Progressively abnormally small cranium" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Progressively abnormally small skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1850456 is_a: HP:0000252 ! Microcephaly @@ -2644,20 +2655,21 @@ alt_id: HP:0200135 def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [pmid:19125436] comment: Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. subset: hposlim_core -synonym: "Big calvaria" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Big cranium" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Big head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Big skull" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of skull" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large calvaria" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Large cranium" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Big calvaria" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Big cranium" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Big head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Big skull" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased size of cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased size of head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased size of skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Large calvaria" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Large cranium" BROAD [ORCID:0000-0001-5889-4463] synonym: "Large head" EXACT layperson [] synonym: "Large head circumference" EXACT layperson [] -synonym: "Large skull" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Large skull" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Macrocrania" EXACT [] -synonym: "Megacephaly" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Megacephaly" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:4335 xref: UMLS:C4083076 xref: UMLS:C4255213 xref: UMLS:C4280663 @@ -2686,11 +2698,11 @@ alt_id: HP:0001356 def: "Tall head relative to width and length." [pmid:19125436] comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. subset: hposlim_core -synonym: "Tall shaped cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Tall shaped head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tall shaped skull" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tower cranium shape" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Tower skull shape" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Tall shaped cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Tall shaped head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Tall shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Tower cranium shape" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Tower skull shape" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:48069004 xref: UMLS:C0030044 @@ -2727,16 +2739,16 @@ is_a: HP:0000264 ! Abnormality of the mastoid id: HP:0000267 name: Cranial asymmetry def: "Asymmetry of the bones of the skull." [HPO:curators] -synonym: "Abnormality of cranial vault shape" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of cranium shape" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of head shape" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Asymmetry of cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Asymmetry of head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Cranial vault asymmetry" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of cranial vault shape" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of cranium shape" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of head shape" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven head shape" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of cranial vault shape" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of cranium shape" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of head shape" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Asymmetry of cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Asymmetry of head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Cranial vault asymmetry" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Malformation of cranial vault shape" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Malformation of cranium shape" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Malformation of head shape" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven head shape" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860245 xref: UMLS:C4280258 xref: UMLS:C4280657 @@ -2756,9 +2768,10 @@ def: "An abnormality of skull shape characterized by a increased anterior-poster comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). subset: hposlim_core synonym: "Large dolichocephalic skull" NARROW [] -synonym: "Narrow cranium shape" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Narrow head shape" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Narrow skull shape" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Long, narrow head" EXACT layperson [ORCID:0000-0002-6548-5200] +synonym: "Narrow cranium shape" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Narrow head shape" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Narrow skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Turridolichocephaly" BROAD [] xref: SNOMEDCT_US:72239002 xref: UMLS:C0221358 @@ -2775,13 +2788,13 @@ alt_id: HP:0004489 def: "Increased convexity of the occiput (posterior part of the skull)." [pmid:19125436] comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. subset: hposlim_core -synonym: "Prominent back of the head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Prominent back of the skull" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Prominent posterior cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent posterior head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Prominent posterior skull" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Protruding back of the head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Protruding occiput" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Prominent back of the head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Prominent back of the skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Prominent posterior cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent posterior head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Prominent posterior skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Protruding back of the head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Protruding occiput" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1853737 xref: UMLS:C4280652 is_a: HP:0011217 ! Abnormal shape of the occiput @@ -2814,16 +2827,16 @@ name: Abnormality of the face def: "An abnormality of the face." [HPO:probinson] subset: hposlim_core synonym: "Abnormal face" EXACT layperson [HPO:skoehler] -synonym: "Abnormality of the countenance" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the countenance" BROAD [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the face" EXACT layperson [] -synonym: "Abnormality of the physiognomy" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the visage" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of face" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the face" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Disorder of face" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Disorder of the face" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Facial abnormality" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Facial anomaly" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the physiognomy" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the visage" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of face" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the face" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Disorder of face" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Disorder of the face" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Facial abnormality" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Facial anomaly" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:118930001 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 @@ -2845,15 +2858,15 @@ alt_id: HP:0005319 alt_id: HP:0005443 alt_id: HP:0005455 alt_id: HP:0100846 -def: "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [HPO:orcid.org/0000-0001-5889-4463, HPO:probinson, pmid:19125436] -comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="orcid.org/0000-0001-5889-4463"} +def: "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436] +comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="ORCID:0000-0001-5889-4463"} subset: hposlim_core -synonym: "Decreased size of malar bone" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of malar bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Depressed malar region" EXACT [] -synonym: "Hypotrophic malar bone" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrophic malar bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Malar hypoplasia" EXACT [] -synonym: "Underdevelopment of malar bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Zygomatic flattening" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Underdevelopment of malar bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Zygomatic flattening" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1858085 xref: UMLS:C4280651 is_a: HP:0012369 ! Abnormality of malar bones @@ -2871,13 +2884,13 @@ id: HP:0000274 name: Small face def: "A face that is short (HP:0011219) and narrow (HP:0000275)." [HP:probinson] comment: This term represents a combination of two terms, short face and narrow face. -synonym: "Facial hypoplasia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Microface" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Microfacies" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Short and narrow face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Facial hypoplasia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Microface" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Microfacies" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Short and narrow face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small face" EXACT layperson [] -synonym: "Small facies" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Small facies" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855538 is_a: HP:0001999 ! Abnormal facial shape @@ -2888,20 +2901,20 @@ alt_id: HP:0000318 def: "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [pmid:19125436] comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. subset: hposlim_core -synonym: "Decreased breadth of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased horizontal dimension of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased transverse dimension of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Horizontal deficiency of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Horizontal hypoplasia of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Horizontal insufficiency of face" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased breadth of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased horizontal dimension of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased transverse dimension of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Horizontal deficiency of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Horizontal hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Horizontal insufficiency of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Narrow face" EXACT layperson [] synonym: "Narrow facies" EXACT [] synonym: "Thin face" RELATED layperson [] -synonym: "Thin facies" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Transverse deficiency of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Transverse hypoplasia of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Transverse insufficiency of face" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Thin facies" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Transverse deficiency of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Transverse hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Transverse insufficiency of face" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1837463 xref: UMLS:C1849121 is_a: HP:0000274 ! Small face @@ -2913,18 +2926,18 @@ alt_id: HP:0000334 def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [pmid:19125436] comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. subset: hposlim_core -synonym: "Elongation of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased height of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased length of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased vertical dimension of face" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Elongation of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased height of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased length of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased vertical dimension of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Long face" EXACT layperson [] -synonym: "Long facies" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical elongation of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Vertical enlargement of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Vertical excess of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical Facial Excess" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical hyperplasia of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical overgrowth of face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Long facies" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical elongation of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Vertical enlargement of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Vertical excess of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical Facial Excess" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical overgrowth of face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1836047 is_a: HP:0100729 ! Large face @@ -2934,13 +2947,13 @@ name: Abnormality of the mandible alt_id: HP:0000209 def: "Any abnormality of the mandible, the bone of the lower jaw." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of the lower jaw bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the lower jaw bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the mandible" EXACT layperson [] -synonym: "Anomaly of the mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the lower jaw bone" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the lower jaw bone" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the mandible" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the lower jaw bone" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the lower jaw bone" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the mandible" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025870 is_a: HP:0030791 ! Abnormal jaw morphology @@ -2952,12 +2965,12 @@ alt_id: HP:0002954 def: "An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] subset: hposlim_core synonym: "Receding chin" EXACT layperson [] -synonym: "Receding lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Receding lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Receding mandible" EXACT [] -synonym: "Retrogenia" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Retrognathia of lower jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Weak chin" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Weak jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Retrogenia" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Retrognathia of lower jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Weak chin" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Weak jaw" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D063173 xref: UMLS:C3494422 is_a: HP:0000277 ! Abnormality of the mandible @@ -2970,11 +2983,11 @@ alt_id: HP:0004640 def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [pmid:19125436] subset: hposlim_core synonym: "Coarse face" EXACT [] -synonym: "Coarse facial appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Coarse facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Coarse facial features" EXACT layperson [] synonym: "Coarse facies" EXACT [] -synonym: "Rounded and heavy facial features" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thickened facial skin with coarse facial features" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Rounded and heavy facial features" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Thickened facial skin with coarse facial features" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1845847 xref: UMLS:C4072825 is_a: HP:0001999 ! Abnormal facial shape @@ -2982,8 +2995,8 @@ is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000282 name: Facial edema -synonym: "Facial puffiness" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Facial swelling" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Facial puffiness" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Facial swelling" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:445088006 xref: UMLS:C0542571 is_a: HP:0000969 ! Edema @@ -2996,17 +3009,17 @@ def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 st comment: Note that broad face is distinct from round face. subset: hposlim_core synonym: "Broad face" EXACT layperson [] -synonym: "Broad facies" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Horizontal excess of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Horizontal hyperplasia of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased breadth of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased horizontal dimension of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased transverse dimension of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Transverse excess of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Transverse hyperplasia of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Wide face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide facies" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Broad facies" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Horizontal excess of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Horizontal hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased breadth of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased horizontal dimension of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased transverse dimension of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased width of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Transverse excess of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Transverse hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Wide face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1859680 is_a: HP:0100729 ! Large face @@ -3027,10 +3040,10 @@ subset: hposlim_core synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthal folds" EXACT [] synonym: "Epicanthic folds" EXACT [] -synonym: "Eye folds" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Palpebronasal fold" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Plica palpebronasalis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent eye folds" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eye folds" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Palpebronasal fold" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Plica palpebronasalis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent eye folds" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0678230 is_a: HP:0000492 ! Abnormal eyelid morphology @@ -3038,13 +3051,13 @@ is_a: HP:0000492 ! Abnormal eyelid morphology id: HP:0000287 name: Increased facial adipose tissue def: "An increased amount of subcutaneous fat tissue in the face." [HPO:probinson] -synonym: "Facial fat hyperplasia" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Facial fat hypertrophy" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of facial adipose tissue" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of facial adipose tissue" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Increased amount of facial adipose tissue" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased amount of facial fat" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased volume of facial adipose tissue" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Facial fat hyperplasia" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Facial fat hypertrophy" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Increased amount of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased amount of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased volume of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025868 xref: UMLS:C4280649 xref: UMLS:C4280650 @@ -3058,7 +3071,7 @@ def: "An abnormality of the philtrum." [HPO:probinson] comment: The paralabial region is the region surrounding the lips and includes the philtrum. subset: hposlim_core synonym: "Abnormal philtrum" EXACT [] -synonym: "Abnormality of the infranasal depression" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the infranasal depression" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the paralabial region" EXACT [] xref: UMLS:C1857045 is_a: HP:0000177 ! Abnormality of upper lip @@ -3069,10 +3082,10 @@ name: Broad philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [pmid:19152422] comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. subset: hposlim_core -synonym: "Increased breadth of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased horizontal dimension of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased transverse dimension of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Increased breadth of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased horizontal dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased transverse dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased width of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide philtrum" EXACT [] xref: UMLS:C1854111 is_a: HP:0000288 ! Abnormality of the philtrum @@ -3083,10 +3096,10 @@ name: Abnormality of the forehead def: "An anomaly of the forehead." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the forehead" EXACT layperson [] -synonym: "Abnormality of the frontal region of the face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the forehead" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the forehead" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the forehead" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the frontal region of the face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025867 is_a: HP:0000271 ! Abnormality of the face @@ -3094,8 +3107,8 @@ is_a: HP:0000271 ! Abnormality of the face id: HP:0000291 name: Abnormality of facial adipose tissue synonym: "Abnormality of facial fat" EXACT layperson [] -synonym: "Deformity of facial adipose tissue" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of facial adipose tissue" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Deformity of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025866 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011799 ! Abnormality of facial soft tissue @@ -3104,10 +3117,10 @@ is_a: HP:0011799 ! Abnormality of facial soft tissue id: HP:0000292 name: Loss of facial adipose tissue def: "Loss of normal subcutaneous fat tissue in the face." [HPO:curators] -synonym: "Decreased amount of facial adipose tissue" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased amount of facial fat" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of facial adipose tissue" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Loss of facial fat" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased amount of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased amount of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Loss of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Loss of facial subcutaneous adipose tissue" EXACT [] synonym: "Loss of subcutaneous adipose tissue from face" EXACT [] xref: UMLS:C1837767 @@ -3123,13 +3136,13 @@ def: "Increased prominence or roundness of soft tissues between zygomata and man subset: hposlim_core synonym: "Apple cheeks" EXACT layperson [] synonym: "Big cheeks" EXACT layperson [] -synonym: "Chubby cheeks" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Chubby cheeks" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Full cheeks" EXACT layperson [] -synonym: "Hyperplasia of cheeks" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of cheeks" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of cheeks" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of cheeks" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of cheeks" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased size of cheeks" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large cheeks" EXACT layperson [] -synonym: "Puffy cheeks" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Puffy cheeks" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866231 xref: UMLS:C2748653 xref: UMLS:C3806443 @@ -3153,7 +3166,7 @@ id: HP:0000295 name: Doll-like facies def: "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [HPO:probinson] comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. -synonym: "Doll-like facial appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Doll-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856361 is_a: HP:0001999 ! Abnormal facial shape @@ -3161,11 +3174,11 @@ is_a: HP:0001999 ! Abnormal facial shape id: HP:0000297 name: Facial hypotonia def: "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] -synonym: "Atony of facial musculature" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased facial muscle tone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Atony of facial musculature" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotonic facies" EXACT [] -synonym: "Low facial muscle tone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Reduced facial muscle tone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Low facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Reduced facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1845251 xref: UMLS:C4280646 is_a: HP:0000301 ! Abnormality of facial musculature @@ -3178,8 +3191,8 @@ def: "A lack of facial expression often with staring eyes and a slightly open mo comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. synonym: "Amimia" EXACT [] synonym: "Expressionless face" EXACT layperson [] -synonym: "Lack of facial expression" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Mask-like facial appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lack of facial expression" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Mask-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Masklike facies" EXACT [] xref: SNOMEDCT_US:103606006 xref: UMLS:C0424448 @@ -3190,8 +3203,8 @@ id: HP:0000300 name: Oval face def: "A face with a rounded and slightly elongated outline." [HPO:probinson] synonym: "Oval face" EXACT layperson [] -synonym: "Oval facial shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Oval facies" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Oval facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Oval facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849025 is_a: HP:0001999 ! Abnormal facial shape @@ -3200,7 +3213,7 @@ id: HP:0000301 name: Abnormality of facial musculature def: "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] comment: Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. -synonym: "Abnormality of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial muscle issue" EXACT layperson [] xref: UMLS:C4025865 is_a: HP:0003011 ! Abnormality of the musculature @@ -3223,12 +3236,12 @@ synonym: "Big mandible" EXACT [] synonym: "Enlarged mandible" EXACT [] synonym: "Enlargement of mandible" EXACT [] synonym: "Hyperplasia of lower jaw" EXACT [] -synonym: "Hypertrophy of lower jaw" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of mandible" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased projection of lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased projection of mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of mandible" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hypertrophy of lower jaw" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of mandible" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased projection of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased projection of mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased size of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased size of mandible" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Large lower jaw" EXACT layperson [] synonym: "Large mandible" EXACT [] synonym: "Lower jaw excess" EXACT [] @@ -3243,8 +3256,8 @@ synonym: "Prognathia" EXACT [] synonym: "Prognathism" EXACT [] synonym: "Prominent chin" EXACT layperson [] synonym: "Prominent jaw" EXACT [] -synonym: "Prominent lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Prominent mandible" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Prominent lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Prominent mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Relative mandibular prognathism" EXACT [] xref: MSH:D008313 xref: SNOMEDCT_US:109504005 @@ -3263,10 +3276,10 @@ name: Abnormality of the chin def: "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [HPO:probinson, pmid:19125436] subset: hposlim_core synonym: "Abnormality of the chin" EXACT layperson [] -synonym: "Abnormality of the menton" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the menton" NARROW [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the chin" NARROW layperson [] -synonym: "Deformity of the chin" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the chin" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Deformity of the chin" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the chin" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025864 is_a: HP:0000271 ! Abnormality of the face @@ -3278,7 +3291,7 @@ def: "A marked tapering of the lower face to the chin." [pmid:19125436] comment: The two rami of the mandible meet at an acute angle. subset: hposlim_core synonym: "Pointed chin" EXACT layperson [] -synonym: "Pointed mention region" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Pointed mention region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pointy chin" EXACT layperson [] synonym: "Small pointed chin" EXACT layperson [] synonym: "Witch's chin" EXACT layperson [] @@ -3300,8 +3313,8 @@ name: Abnormality of the midface def: "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface." [HPO:probinson, pmid:19125436] synonym: "Abnormality of the midface" EXACT layperson [] synonym: "Anomaly of the midface" EXACT [] -synonym: "Deformity of the midface" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the midface" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Deformity of the midface" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the midface" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021811 is_a: HP:0000271 ! Abnormality of the face @@ -3312,10 +3325,10 @@ alt_id: HP:0000304 alt_id: HP:0004653 def: "The facial appearance is more circular than usual as viewed from the front." [pmid:19125436] subset: hposlim_core -synonym: "Circular face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Circular face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Round face" EXACT layperson [] synonym: "Round facial appearance" EXACT layperson [] -synonym: "Round facial shape" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Round facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Round facies" EXACT [] synonym: "Round, full face" BROAD [] xref: UMLS:C0239479 @@ -3326,11 +3339,11 @@ is_a: HP:0001999 ! Abnormal facial shape id: HP:0000315 name: Abnormality of the orbital region alt_id: HP:0000284 -synonym: "Abnormality of the eye region" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the region around the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the orbital region of the face" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the orbital region of the face" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the orbital region of the face" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the eye region" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the region around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025863 is_a: HP:0000271 ! Abnormality of the face @@ -3343,9 +3356,9 @@ alt_id: HP:0004657 alt_id: HP:0007871 def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [pmid:19125427] subset: hposlim_core -synonym: "Excessive orbital separation" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased distance between eye sockets" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased distance between eyes" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Excessive orbital separation" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased distance between eye sockets" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased distance between eyes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased interpupillary distance" EXACT [] synonym: "Ocular hypertelorism" EXACT [] synonym: "Wide-set eyes" EXACT layperson [] @@ -3379,11 +3392,11 @@ alt_id: HP:0000323 alt_id: HP:0004663 def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [pmid:19152422] comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. -synonym: "Decreased depth of philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased depth of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat philtrum" EXACT [] synonym: "Indistinct philtrum" EXACT [] synonym: "Philtrum, smooth" EXACT [] -synonym: "Shallow philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Shallow philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Simple philtrum" EXACT [] xref: UMLS:C1142533 is_a: HP:0000288 ! Abnormality of the philtrum @@ -3391,7 +3404,7 @@ is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000320 name: Bird-like facies -synonym: "Bird-like facial appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bird-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1837758 is_a: HP:0001999 ! Abnormal facial shape @@ -3400,8 +3413,8 @@ id: HP:0000321 name: Square face def: "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [pmid:19125436] synonym: "Square face" EXACT layperson [] -synonym: "Square facial shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Square facies" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Square facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Square facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1832127 is_a: HP:0001999 ! Abnormal facial shape @@ -3411,10 +3424,10 @@ name: Short philtrum alt_id: HP:0200090 def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [pmid:19152422] subset: hposlim_core -synonym: "Decreased height of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased length of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased vertical dimension of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical hypoplasia of philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased length of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased vertical dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical hypoplasia of philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1861324 is_a: HP:0000288 ! Abnormality of the philtrum @@ -3425,15 +3438,15 @@ alt_id: HP:0003775 def: "An abnormal difference between the left and right sides of the face." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric facies" EXACT [] -synonym: "Asymmetry of face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Asymmetry of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of right and left side of face" EXACT [] -synonym: "Crooked face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Crooked face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial asymmetry" EXACT layperson [] -synonym: "Unbalanced face" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unequal sides of face" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven face" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven sides of face" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unsymmetrical face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Unbalanced face" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Unequal sides of face" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven face" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven sides of face" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Unsymmetrical face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005146 xref: SNOMEDCT_US:15253005 xref: UMLS:C1306710 @@ -3447,9 +3460,9 @@ alt_id: HP:0004662 alt_id: HP:0004668 def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [DDD:jclayton-smith, pmid:19125436] subset: hposlim_core -synonym: "Face with broad temples and narrow chin" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Face with broad temples and narrow chin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular face" EXACT layperson [] -synonym: "Triangular facial shape" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Triangular facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular facies" EXACT [] xref: UMLS:C1835884 is_a: HP:0001999 ! Abnormal facial shape @@ -3459,13 +3472,13 @@ id: HP:0000326 name: Abnormality of the maxilla def: "An abnormality of the Maxilla (upper jaw bone)." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of the upper jaw bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the upper jaw bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the maxilla" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the maxilla" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the upper jaw bones" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the maxilla" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the upper jaw bones" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the upper jaw bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the maxilla" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the maxilla" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the maxilla" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025862 is_a: HP:0030791 ! Abnormal jaw morphology @@ -3475,28 +3488,28 @@ name: Hypoplasia of the maxilla alt_id: HP:0004644 def: "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [HPO:probinson] subset: hposlim_core -synonym: "Decreased projection of maxilla" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased projection of upper jaw" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of maxilla" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of upper jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of upper jaw bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of upper jaw bones" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased projection of maxilla" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased projection of upper jaw" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of maxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of upper jaw bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of upper jaw bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic maxillary bones" EXACT [] -synonym: "Hypotrophic maxilla" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic upper jaw bones" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary deficiency" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary hypoplasia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary micrognathia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary retrognathia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary retrusion" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Micromaxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Retrognathia of upper jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Retrusion of upper jaw bones" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small maxilla" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small upper jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small upper jaw bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Upper jaw deficiency" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Upper jaw retrusion" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrophic maxilla" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic upper jaw bones" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Maxillary deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Maxillary hypoplasia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Maxillary micrognathia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Maxillary retrognathia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Maxillary retrusion" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Micromaxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Retrognathia of upper jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Retrusion of upper jaw bones" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small maxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Upper jaw deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Upper jaw retrusion" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0240310 xref: UMLS:C4082243 xref: UMLS:C4280640 @@ -3519,11 +3532,11 @@ id: HP:0000331 name: Short chin def: "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [HPO:probinson, pmid:19125436] comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). -synonym: "Decreased height of chin" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of chin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short chin" EXACT layperson [] synonym: "Short lower third of face" EXACT layperson [] synonym: "Small chin" RELATED layperson [] -synonym: "Vertical deficiency of chin" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Vertical deficiency of chin" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical hypoplasia of chin" EXACT [] xref: SNOMEDCT_US:699439001 xref: UMLS:C1839323 @@ -3535,12 +3548,12 @@ id: HP:0000336 name: Prominent supraorbital ridges def: "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [pmid:19125436] subset: hposlim_core -synonym: "Hyperplasia of supraorbital margins" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of supraorbital margins" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of supraorbital ridge" NARROW [] -synonym: "Hypertrophy of supraorbital margins" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Hypertrophy of supraorbital margins" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of supraorbital ridge" NARROW [] synonym: "Prominent brow" EXACT layperson [] -synonym: "Prominent supraorbital margins" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Prominent supraorbital margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent supraorbital ridge" EXACT [] synonym: "Protruding supraorbital ridge" EXACT [] synonym: "Supraorbital hyperostosis" EXACT [] @@ -3559,12 +3572,12 @@ alt_id: HP:0000354 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [pmid:19125436] comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. subset: hposlim_core -synonym: "Bitemporal widening" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Bitemporal widening" EXACT [ORCID:0000-0001-5889-4463] synonym: "Broad forehead" EXACT layperson [] synonym: "Increased bitemporal dimension" EXACT [] synonym: "Increased bitemporal width" EXACT [] -synonym: "Increased width of the forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Intertemporal widening" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Increased width of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Intertemporal widening" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide forehead" EXACT layperson [] xref: UMLS:C1849089 is_a: HP:0000290 ! Abnormality of the forehead @@ -3575,10 +3588,10 @@ name: Hypomimic face alt_id: HP:0008769 def: "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation." [HPO:probinson] comment: The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. -synonym: "Decreased facial expressions" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased facial muscle movement" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased facial expressions" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased facial muscle movement" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Dull facial expression" EXACT layperson [] -synonym: "Hypomimia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypomimia" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248149005 xref: UMLS:C0813217 xref: UMLS:C1862474 @@ -3590,8 +3603,8 @@ is_a: HP:0004673 ! Decreased facial expression id: HP:0000339 name: Pugilistic facies def: "Coarse facial features reminiscent of those of a boxer." [HPO:probinson] -synonym: "Boxer-like facial appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pugilistic facial appearance" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Boxer-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Pugilistic facial appearance" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1846011 is_a: HP:0000280 ! Coarse facial features @@ -3606,7 +3619,7 @@ def: "Inclination of the anterior surface of the forehead from the vertical more comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. subset: hposlim_core synonym: "Inclined forehead" EXACT layperson [] -synonym: "Posteriorly sloping forehead" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Posteriorly sloping forehead" EXACT [ORCID:0000-0001-5889-4463] synonym: "Receding forehead" EXACT layperson [] synonym: "Sloping forehead" EXACT layperson [] xref: UMLS:C1857679 @@ -3624,7 +3637,7 @@ subset: hposlim_core synonym: "Bitemporal narrowing" EXACT [] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] -synonym: "Decreased width of the forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased width of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Intertemporal narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Narrow bitemporal width" EXACT [] @@ -3638,11 +3651,11 @@ id: HP:0000343 name: Long philtrum def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [pmid:19152422] subset: hposlim_core -synonym: "Elongated philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased height of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased length of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased vertical dimension of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical hyperplasia of philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Elongated philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased height of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased length of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased vertical dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical hyperplasia of philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1865014 is_a: HP:0000288 ! Abnormality of the philtrum @@ -3651,7 +3664,7 @@ id: HP:0000346 name: Whistling appearance def: "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [HPO:probinson, pmid:856233] synonym: "Whistling appearance" EXACT layperson [] -synonym: "Whistling facial appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Whistling facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1848473 is_a: HP:0000205 ! Pursed lips @@ -3669,17 +3682,17 @@ alt_id: HP:0005470 def: "Developmental hypoplasia of the mandible." [HPO:probinson] comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. subset: hposlim_core -synonym: "Decreased projection of lower jaw" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased projection of mandible" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Decreased projection of lower jaw" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased projection of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased size of lower jaw" EXACT [] synonym: "Decreased size of mandible" EXACT [] -synonym: "Deficiency of lower jaw" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of lower jaw" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Deficiency of lower jaw" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of lower jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of mandible" EXACT [] synonym: "Hypoplastic mandible" EXACT [] synonym: "Hypoplastic mandible condyle" EXACT [] -synonym: "Hypotrophic lower jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic mandible" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrophic lower jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Little lower jaw" EXACT layperson [] synonym: "Little mandible" EXACT [] synonym: "Lower jaw deficiency" EXACT [] @@ -3693,7 +3706,7 @@ synonym: "Mandibular retrognathia" EXACT [] synonym: "Mandibular retrusion" EXACT [] synonym: "Micrognathia of lower jaw" EXACT [] synonym: "Micromandible" EXACT [] -synonym: "Retrusion of lower jaw" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Retrusion of lower jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Robin mandible" EXACT [] synonym: "Severe hypoplasia of mandible" EXACT [] synonym: "Small jaw" EXACT layperson [] @@ -3701,6 +3714,7 @@ synonym: "Small lower jaw" EXACT layperson [] synonym: "Small mandible" EXACT [] synonym: "Underdevelopment of lower jaw" EXACT [] synonym: "Underdevelopment of mandible" EXACT [] +xref: Fyler:4163 xref: MSH:D008844 xref: SNOMEDCT_US:32958008 xref: UMLS:C0025990 @@ -3714,7 +3728,7 @@ name: High forehead alt_id: HP:0000342 def: "An abnormally increased height of the forehead." [HPO:probinson] synonym: "High forehead" EXACT layperson [] -synonym: "Tall forehead" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Tall forehead" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0239676 xref: UMLS:C2677762 is_a: HP:0000290 ! Abnormality of the forehead @@ -3725,9 +3739,9 @@ name: Widow's peak def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [pmid:19125436] comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. subset: hposlim_core -synonym: "Hairline peak" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hairline point" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "V-shaped frontal hairline" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hairline peak" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hairline point" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "V-shaped frontal hairline" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Widow's peak" EXACT layperson [] xref: UMLS:C1853486 is_a: HP:0009890 ! High anterior hairline @@ -3736,10 +3750,10 @@ is_a: HP:0009890 ! High anterior hairline id: HP:0000350 name: Small forehead def: "The presence of a forehead that is abnormally small." [HPO:curators] -synonym: "Decreased size of forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of frontal region of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of forehead" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic forehead" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of frontal region of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of forehead" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic forehead" NARROW [ORCID:0000-0001-5889-4463] synonym: "Small forehead" EXACT layperson [] xref: UMLS:C1845250 xref: UMLS:C4280633 @@ -3805,7 +3819,7 @@ name: Tinnitus def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] subset: hposlim_core synonym: "Ringing in ears" EXACT layperson [] -synonym: "Ringing in the ears" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Ringing in the ears" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014012 xref: SNOMEDCT_US:162349004 xref: SNOMEDCT_US:162352007 @@ -3869,6 +3883,7 @@ synonym: "Hearing defect" EXACT layperson [] synonym: "Hearing impairment" EXACT layperson [] synonym: "Hearing loss" RELATED layperson [] synonym: "Hypoacusis" RELATED [] +xref: Fyler:4868 xref: MSH:D003638 xref: MSH:D034381 xref: SNOMEDCT_US:103276001 @@ -3887,13 +3902,13 @@ name: Abnormality of the nose def: "An abnormality of the nose." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the nose" EXACT layperson [] -synonym: "Anomaly of the nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Nasal abnormality" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Nasal anomaly" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Nasal deformity" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Nasal malformation" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Nasal abnormality" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Nasal anomaly" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Nasal deformity" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Nasal malformation" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:128274005 xref: SNOMEDCT_US:72089000 xref: UMLS:C0240547 @@ -3938,7 +3953,7 @@ is_a: HP:0031703 ! Abnormal ear morphology id: HP:0000371 name: Acute otitis media def: "Acute otitis media is a short and generally painful infection of the middle ear." [HPO:probinson] -synonym: "Acute middle ear infection" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Acute middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:3110003 xref: UMLS:C0271429 is_a: HP:0000388 ! Otitis media @@ -4029,10 +4044,10 @@ is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000383 name: Abnormality of periauricular region -synonym: "Abnormality of the region around the ear" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the periauricular region" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the periauricular region" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the periauricular region" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the region around the ear" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the periauricular region" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the periauricular region" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the periauricular region" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025856 is_a: HP:0004426 ! Abnormality of the cheek @@ -4043,13 +4058,13 @@ alt_id: HP:0008575 alt_id: HP:0100278 def: "A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [HPO:probinson] synonym: "Periauricular skin tag" EXACT [] -synonym: "Preauricular acrochordon" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Preauricular fibroepithelial polyp" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Preauricular acrochordon" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Preauricular fibroepithelial polyp" EXACT [ORCID:0000-0001-5889-4463] synonym: "Preauricular skin tags" EXACT [] synonym: "Preauricular tag" EXACT [] synonym: "Preauricular tags" EXACT [] -synonym: "Skin tag in front of the ear" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Skin tag on the posterior cheek" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Skin tag in front of the ear" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Skin tag on the posterior cheek" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860816 xref: UMLS:C4072826 is_a: HP:0000383 ! Abnormality of periauricular region @@ -4085,7 +4100,7 @@ is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes id: HP:0000388 name: Otitis media def: "Inflammation or infection of the middle ear." [HPO:probinson] -synonym: "Middle ear infection" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D010033 xref: SNOMEDCT_US:65363002 xref: UMLS:C0029882 @@ -4188,7 +4203,7 @@ def: "An abnormal narrowing of the external auditory canal." [HPO:probinson] subset: hposlim_core synonym: "External auditory canal stenosis" EXACT [] synonym: "Narrow auditory canals" EXACT [] -synonym: "Narrow ear canal" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrow ear canal" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Narrow external auditory canals" EXACT [] synonym: "Narrow external auditory meatus" EXACT [] synonym: "Stenotic external auditory canal" EXACT [] @@ -4209,7 +4224,7 @@ synonym: "Frequent otitis media" EXACT [] synonym: "Multiple episodes of otitis media" EXACT [] synonym: "Otitis media, recurrent" EXACT [HPO:skoehler] synonym: "Recurrent episodes of otitis media" EXACT [] -synonym: "Recurrent middle ear infection" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Recurrent middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Susceptibility to otitis media" EXACT [] xref: UMLS:C0747085 is_a: HP:0000388 ! Otitis media @@ -4312,7 +4327,7 @@ alt_id: HP:0008626 def: "Absence or failure to form of the external auditory canal." [HPO:probinson] subset: hposlim_core synonym: "Absent auditory canals" EXACT [] -synonym: "Absent ear canal" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent ear canal" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent external auditory canals" EXACT [] synonym: "Atresia of the external auditory canals" RELATED [HPO:skoehler] synonym: "Atretic auditory canal" EXACT [] @@ -4338,7 +4353,7 @@ def: "Increased volume and globular shape of the anteroinferior aspect of the no comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. synonym: "Bulbous nasal tip" RELATED [] synonym: "Bulbous nose" EXACT layperson [] -synonym: "Potato nose" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Potato nose" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:C538354 xref: UMLS:C0240543 xref: UMLS:C1834118 @@ -4383,10 +4398,10 @@ id: HP:0000419 name: Abnormality of the nasal septum def: "An abnormality of the nasal septum." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal septum" EXACT layperson [] -synonym: "Anomaly of nasal septum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of septum of nose" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of nasal septum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of septum of nose" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:95433000 xref: UMLS:C0151790 is_a: HP:0000366 ! Abnormality of the nose @@ -4396,10 +4411,10 @@ id: HP:0000420 name: Short nasal septum def: "Reduced superior to inferior length of the nasal septum." [HPO:probinson] subset: hposlim_core -synonym: "Decreased length of nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased length of septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased length of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short nasal septum" EXACT layperson [] -synonym: "Short septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Short septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844857 is_a: HP:0000419 ! Abnormality of the nasal septum @@ -4407,7 +4422,7 @@ is_a: HP:0000419 ! Abnormality of the nasal septum id: HP:0000421 name: Epistaxis def: "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose." [HPO:probinson] -synonym: "Bloody nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bloody nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Frequent nosebleeds" EXACT layperson [] synonym: "Nose bleeding" EXACT layperson [] synonym: "Nosebleed" EXACT layperson [] @@ -4425,13 +4440,13 @@ alt_id: HP:0000423 def: "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi." [HPO:probinson, pmid:19152422] comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge. subset: hposlim_core -synonym: "Abnormality of the bridge of the nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the bridge of the nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal bridge" EXACT layperson [] synonym: "Abnormality of the nasal root" EXACT [] -synonym: "Deformity of the bridge of the nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasal bridge" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the bridge of the nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasal bridge" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Deformity of the bridge of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasal bridge" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the bridge of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasal bridge" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021805 is_a: HP:0000366 ! Abnormality of the nose @@ -4444,15 +4459,15 @@ alt_id: HP:0004498 alt_id: HP:0005287 def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [pmid:19152422] comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. -synonym: "Convex bridge of nose" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Convex nasal bridge" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Convex bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Convex nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Elevated nasal bridge" EXACT layperson [] synonym: "High nasal bridge" EXACT layperson [] -synonym: "Prominent bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Prominent bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent nasal bridge" EXACT layperson [] synonym: "Prominent nasal root" EXACT layperson [] -synonym: "Protruding bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Protruding nasal bridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Protruding bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Protruding nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1854113 xref: UMLS:C4230640 is_a: HP:0000422 ! Abnormality of the nasal bridge @@ -4464,11 +4479,11 @@ def: "An abnormality of the Ala of nose." [HPO:probinson, pmid:19152422] comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. subset: hposlim_core synonym: "Abnormality of the nasal ala" EXACT [] -synonym: "Abnormality of the nasal alar cartilage" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasal ala" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasal alar cartilage" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasal ala" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasal alar cartilage" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasal ala" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasal ala" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C2227020 xref: UMLS:C4021804 xref: UMLS:C4280631 @@ -4488,7 +4503,7 @@ comment: The alae nasi are the lateral portions of the nose or the wings of the subset: hposlim_core synonym: "Ala nasi, underdeveloped" EXACT [] synonym: "Alar cartilage hypoplasia" EXACT [] -synonym: "Decreased size of nasal alae" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of nasal alae" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic alae nasae" EXACT [] synonym: "Hypoplastic alae nasi" EXACT [] synonym: "Hypoplastic alar cartilage" EXACT [] @@ -4498,7 +4513,7 @@ synonym: "Hypoplastic nasal alae" EXACT [] synonym: "Hypoplastic nasal wings" EXACT [] synonym: "Hypoplastic nostrils" EXACT [] synonym: "Nasal cartilage hypoplasia" EXACT [] -synonym: "Small nasal alae" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Small nasal alae" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin hypoplastic alae nasi" EXACT [] xref: UMLS:C1834055 is_a: HP:0000429 ! Abnormality of the nasal alae @@ -4518,13 +4533,13 @@ synonym: "Broad flat nasal bridge" RELATED layperson [HPO:skoehler] synonym: "Broad nasal bridge" EXACT layperson [] synonym: "Broad nasal root" EXACT layperson [] synonym: "Broadened nasal bridge" EXACT layperson [] -synonym: "Increased breadth of bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased breadth of nasal bridge" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of nasal bridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased breadth of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased breadth of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal bridge broad" EXACT layperson [] synonym: "Nasal bridge, wide" EXACT [] -synonym: "Wide bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Wide bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide nasal bridge" EXACT layperson [] synonym: "Widened nasal bridge" EXACT layperson [] xref: SNOMEDCT_US:249321001 @@ -4535,9 +4550,9 @@ is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000433 name: Abnormality of the nasal mucosa -synonym: "Abnormality of mucosa of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of mucous membrane of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of nasal mucous membrane" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of mucosa of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of mucous membrane of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of nasal mucous membrane" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal mucosa" EXACT layperson [] xref: UMLS:C4025854 is_a: HP:0000366 ! Abnormality of the nose @@ -4546,16 +4561,16 @@ is_a: HP:0000366 ! Abnormality of the nose id: HP:0000434 name: Nasal mucosa telangiectasia def: "Telangiectasia of the nasal mucosa." [HPO:probinson] -synonym: "Angioectasia of mucosa of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Angioectasia of mucous membrane of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Angioectasia of nasal mucous membrane" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Nasal mucous membrane telangiectasia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Spider veins of mucosa of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Spider veins of mucous membrane of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Spider veins of nasal mucous membrane" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Telangiectasia of mucosa of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Telangiectasia of mucous membrane of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Telangiectasia of nasal mucous membrane" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Angioectasia of mucosa of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Angioectasia of mucous membrane of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Angioectasia of nasal mucous membrane" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Nasal mucous membrane telangiectasia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Spider veins of mucosa of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Spider veins of mucous membrane of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Spider veins of nasal mucous membrane" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Telangiectasia of mucosa of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Telangiectasia of mucous membrane of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Telangiectasia of nasal mucous membrane" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025853 is_a: HP:0000433 ! Abnormality of the nasal mucosa is_a: HP:0100579 ! Mucosal telangiectasiae @@ -4567,11 +4582,11 @@ def: "An abnormality of the nasal tip." [HPO:probinson, pmid:19152422] comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. subset: hposlim_core synonym: "Abnormality of the nasal tip" EXACT layperson [] -synonym: "Abnormality of tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasal tip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of tip of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasal tip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of tip of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025852 is_a: HP:0010938 ! Abnormality of the external nose @@ -4582,16 +4597,16 @@ alt_id: HP:0005279 def: "Decreased distance from the nasal tip to the nasal base." [pmid:19152422] comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. subset: hposlim_core -synonym: "Caved in nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Caved in nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Depressed nasal tip" EXACT layperson [] -synonym: "Depressed tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Depressed tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat nasal tip" EXACT layperson [] -synonym: "Flat tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Flat tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flattened nasal tip" EXACT layperson [] synonym: "Nasal tip, depressed" EXACT layperson [] synonym: "Nasal tip, recessed" EXACT [] synonym: "Nasal tip, retruded" EXACT [] -synonym: "Retruded tip of nose" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Retruded tip of nose" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1859717 is_a: HP:0000436 ! Abnormality of the nasal tip @@ -4602,10 +4617,10 @@ def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasa subset: hposlim_core synonym: "Beaked nose" EXACT layperson [] synonym: "Beaklike protrusion" EXACT layperson [] -synonym: "Convex dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Convex nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Convex dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Convex nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hooked nose" EXACT layperson [] -synonym: "Polly beak nasal deformity" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Polly beak nasal deformity" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0240538 is_a: HP:0011119 ! Abnormality of the nasal dorsum @@ -4616,10 +4631,10 @@ alt_id: HP:0000438 def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [pmid:19152422] subset: hposlim_core synonym: "Broad nose" EXACT layperson [] -synonym: "Increased breadth of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased nasal breadth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased nasal width" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased breadth of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased nasal breadth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased nasal width" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide nose" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C0426421 @@ -4632,12 +4647,12 @@ alt_id: HP:0100782 def: "Decreased width of the bony bridge of the nose." [pmid:19152422] comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. subset: hposlim_core -synonym: "Narrow bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Narrow bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow nasal bridge" EXACT layperson [] synonym: "Narrow nasal root" EXACT [] synonym: "Nasal Bridge, Narrow" EXACT layperson [] synonym: "Nasal bridge, thin" EXACT layperson [] -synonym: "Pinched bridge of nose" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pinched bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Pinched nasal bridge" RELATED layperson [] xref: SNOMEDCT_US:249322008 xref: UMLS:C0426422 @@ -4660,17 +4675,17 @@ alt_id: HP:0005271 alt_id: HP:0200140 def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [pmid:19152422] subset: hposlim_core -synonym: "Big nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Big nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Disproportionately large nose" EXACT layperson [] -synonym: "Hyperplasia of nose" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of nose" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased nasal size" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of nose" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of nose" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased nasal size" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased size of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large nose" EXACT layperson [] -synonym: "Nasal hyperplasia" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Nasal hypertrophy" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Nasal hyperplasia" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Nasal hypertrophy" RELATED [ORCID:0000-0001-5889-4463] synonym: "Prominent nose" EXACT layperson [] -synonym: "Pronounced nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pronounced nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249311009 xref: UMLS:C0426415 xref: UMLS:C1400105 @@ -4681,7 +4696,7 @@ is_a: HP:0005105 ! Abnormal nasal morphology id: HP:0000451 name: Triangular nasal tip synonym: "Triangular nasal tip" EXACT layperson [] -synonym: "Triangular shaped tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Triangular shaped tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1839765 is_a: HP:0000436 ! Abnormality of the nasal tip @@ -4691,7 +4706,7 @@ name: Choanal stenosis def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:probinson] subset: hposlim_core synonym: "Coanal stenosis" EXACT [] -synonym: "Narrowing of the rear opening of the nasal cavity" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Narrowing of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:306963008 xref: UMLS:C0584837 is_a: HP:0000415 ! Abnormality of the choanae @@ -4703,8 +4718,9 @@ alt_id: HP:0000416 alt_id: HP:0004503 def: "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:probinson] subset: hposlim_core -synonym: "Blockage of the rear opening of the nasal cavity" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Obstruction of the rear opening of the nasal cavity" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Blockage of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Obstruction of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] +xref: Fyler:4203 xref: MSH:D002754 xref: SNOMEDCT_US:204508009 xref: UMLS:C0008297 @@ -4728,16 +4744,16 @@ alt_id: HP:0005269 def: "Increase in width of the nasal tip." [HPO:probinson, pmid:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. synonym: "Broad nasal tip" EXACT layperson [] -synonym: "Broad tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Broad tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Broad upturned nose" RELATED layperson [] synonym: "Broad, upturned nose" EXACT layperson [] -synonym: "Increased breadth of nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased breadth of tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased breadth of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased breadth of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal tip, broad" EXACT layperson [] synonym: "Nasal tip, wide" EXACT layperson [] -synonym: "Wide tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Wide tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249327002 xref: UMLS:C0426429 is_a: HP:0000436 ! Abnormality of the nasal tip @@ -4749,11 +4765,11 @@ name: Bifid nasal tip alt_id: HP:0005282 def: "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [HPO:sdoelken, pmid:19152422] comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. -synonym: "Bifid tip of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Cleft nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Cleft tip of nose" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bifid tip of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Cleft nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Cleft tip of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Notched nasal tip" RELATED layperson [] -synonym: "Notched tip of nose" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Notched tip of nose" RELATED layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249326006 xref: UMLS:C0426428 xref: UMLS:C4020890 @@ -4765,17 +4781,17 @@ name: Depressed nasal ridge def: "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [HPO:probinson, pmid:19152422] comment: The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. subset: hposlim_core -synonym: "Depressed dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Depressed nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Flat dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Flat nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Depressed dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Depressed nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Flat dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Flat nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat nose" EXACT layperson [] -synonym: "Recessed dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Recessed nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Recessed nasal ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Retruded dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Retruded nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Retruded nasal ridge" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Recessed dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Recessed nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Recessed nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Retruded dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Retruded nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Retruded nasal ridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1842876 is_a: HP:0011119 ! Abnormality of the nasal dorsum @@ -4795,10 +4811,10 @@ id: HP:0000460 name: Narrow nose def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [pmid:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. -synonym: "Decreased nasal breadth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased nasal width" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased nasal breadth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased nasal width" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow nose" EXACT layperson [] -synonym: "Thin nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249322008 xref: UMLS:C0426422 is_a: HP:0005105 ! Abnormal nasal morphology @@ -4815,11 +4831,11 @@ synonym: "Anteverted nose" EXACT [] synonym: "Anteverted nostrils" EXACT [] synonym: "Nasal tip, upturned" EXACT layperson [] synonym: "Nostrils anteverted" EXACT [] -synonym: "Upturned nares" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Upturned nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Upturned nasal tip" EXACT layperson [] synonym: "Upturned nasal tips" RELATED [HPO:skoehler] synonym: "Upturned nose" EXACT layperson [] -synonym: "Upturned nostrils" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Upturned nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:708670007 xref: UMLS:C1840077 is_a: HP:0000429 ! Abnormality of the nasal alae @@ -4832,9 +4848,9 @@ name: Abnormality of the neck def: "An abnormality of the neck." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the neck" EXACT layperson [] -synonym: "Anomaly of the neck" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the neck" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the neck" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the neck" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the neck" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the neck" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:298390003 xref: SNOMEDCT_US:40052002 xref: UMLS:C0266623 @@ -4857,7 +4873,7 @@ is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000466 name: Limited neck range of motion -synonym: "Limited cervical range of motion" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Limited cervical range of motion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Limited neck range of motion" EXACT layperson [] xref: UMLS:C1859212 is_a: HP:0005986 ! Limitation of neck motion @@ -4866,8 +4882,8 @@ is_a: HP:0005986 ! Limitation of neck motion id: HP:0000467 name: Neck muscle weakness def: "Decreased strength of the neck musculature." [HPO:probinson] -synonym: "Flaccid neck" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Floppy neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Flaccid neck" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Floppy neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Neck muscle weakness" EXACT layperson [] xref: UMLS:C0240479 is_a: HP:0001324 ! Muscle weakness @@ -4877,7 +4893,7 @@ is_a: HP:0011006 ! Abnormality of the musculature of the neck id: HP:0000468 name: Increased adipose tissue around the neck def: "An increased amount of subcutaneous fat tissue around the neck." [HPO:probinson] -synonym: "Increased fat around the neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased fat around the neck" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025850 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009126 ! Increased adipose tissue @@ -4889,10 +4905,10 @@ alt_id: HP:0005992 alt_id: HP:0200137 def: "Diminished length of the neck." [HPO:probinson] subset: hposlim_core -synonym: "Cervical shortening" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased cervical height" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased cervical length" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased length of neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cervical shortening" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased cervical height" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased cervical length" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased length of neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short neck" EXACT layperson [] xref: SNOMEDCT_US:95427009 xref: UMLS:C0521525 @@ -4911,10 +4927,10 @@ id: HP:0000472 name: Long neck def: "Increased inferior-superior length of the neck." [HPO:probinson] subset: hposlim_core -synonym: "Cervical elongation" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Elongated neck" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased cervical length" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased length of neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cervical elongation" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Elongated neck" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased cervical length" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased length of neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long neck" EXACT layperson [] xref: UMLS:C1839816 is_a: HP:0000464 ! Abnormality of the neck @@ -4925,9 +4941,9 @@ name: Torticollis def: "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [HPO:probinson] comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. synonym: "Cervical dystonia" EXACT [] -synonym: "Loxia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Loxia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Spasmodic torticollis" EXACT [] -synonym: "Wry neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Wry neck" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D014103 xref: SNOMEDCT_US:270476009 xref: SNOMEDCT_US:70070008 @@ -4947,9 +4963,9 @@ def: "A thickening of the skin thickness in the posterior aspect of the fetal ne comment: A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). subset: hposlim_core synonym: "Excess nuchal skin" EXACT [] -synonym: "Thickened nuchal skin" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Thickened skin folds of neck" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thickened skin over the neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thickened nuchal skin" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Thickened skin folds of neck" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thickened skin over the neck" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1836940 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0011425 ! Fetal ultrasound soft marker @@ -4960,9 +4976,9 @@ name: Broad neck def: "Increased side-to-side width of the neck." [HPO:probinson] subset: hposlim_core synonym: "Broad neck" EXACT layperson [] -synonym: "Increased width of neck" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thick neck" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased width of neck" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thick neck" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide neck" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1853638 is_a: HP:0000464 ! Abnormality of the neck @@ -5025,17 +5041,18 @@ is_a: HP:0000589 ! Coloboma [Term] id: HP:0000481 -name: Abnormality of the cornea +name: Abnormal cornea morphology alt_id: HP:0007771 alt_id: HP:0007972 def: "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:probinson] subset: hposlim_core +synonym: "Abnormality of the cornea" EXACT [] synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] synonym: "Cornela disease" RELATED [] xref: UMLS:C1855670 xref: UMLS:C4020889 -is_a: HP:0004328 ! Abnormality of the anterior segment of the globe +is_a: HP:0004328 ! Abnormal anterior segment morphology [Term] id: HP:0000482 @@ -5053,7 +5070,7 @@ is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000483 name: Astigmatism -def: "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [DDD:ncarter, HPO:probinson] {comment="UManchester:psergouniotis"} +def: "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123] comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. subset: hposlim_core xref: MSH:D001251 @@ -5077,7 +5094,7 @@ alt_id: HP:0007660 def: "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] subset: hposlim_core synonym: "Anterior megalophthalmos" EXACT [] -synonym: "Enlarged cornea" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged cornea" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased corneal diameter" EXACT [] synonym: "Macrocornea" EXACT [] xref: MSH:C562829 @@ -5095,7 +5112,7 @@ subset: hposlim_core synonym: "Cross-eyed" EXACT layperson [] synonym: "Heterotropia" EXACT [] synonym: "Squint" EXACT layperson [] -synonym: "Squint eyes" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Squint eyes" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D013285 xref: SNOMEDCT_US:128602000 xref: SNOMEDCT_US:22066006 @@ -5105,7 +5122,7 @@ is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000487 name: Congenital strabismus -synonym: "Cross-eyed present from birth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cross-eyed present from birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95509009 xref: UMLS:C0521579 is_a: HP:0000486 ! Strabismus @@ -5115,7 +5132,7 @@ id: HP:0000488 name: Retinopathy def: "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [HPO:probinson] subset: hposlim_core -synonym: "Noninflammatory retina disease" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Noninflammatory retina disease" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012164 xref: SNOMEDCT_US:29555009 xref: UMLS:C0035309 @@ -5154,7 +5171,7 @@ id: HP:0000491 name: Keratitis def: "Inflammation of the cornea." [HPO:curators] subset: hposlim_core -synonym: "Corneal inflammation" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Corneal inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007634 xref: SNOMEDCT_US:5888003 xref: UMLS:C0022568 @@ -5199,7 +5216,7 @@ synonym: "Down-slanting palpebral fissures" EXACT [] synonym: "Downslanting palpebral fissure" EXACT [] synonym: "Downslanting palpebral fissures" EXACT [HPO:skoehler] synonym: "Downward slanted palpebral fissures" EXACT [] -synonym: "Downward slanting of the opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Downward slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Downward slanting palpebral fissures" EXACT [HPO:skoehler] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] @@ -5237,8 +5254,8 @@ synonym: "Abnormal extraocular movements" EXACT [] synonym: "Abnormal eye motility" EXACT [] synonym: "Abnormal eye movement" EXACT layperson [] synonym: "Abnormal eye movements" EXACT layperson [] -synonym: "Abnormal motility of the globe of the eye" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Abnormal movement of the globe of the eye" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Abnormal motility of the globe of the eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Abnormal movement of the globe of the eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Abnormal ocular movements" EXACT [] synonym: "Abnormality of eye movement" EXACT layperson [] synonym: "Eye movement abnormalities" EXACT layperson [] @@ -5260,8 +5277,8 @@ id: HP:0000498 name: Blepharitis def: "Inflammation of the eyelids." [HPO:probinson] subset: hposlim_core -synonym: "Cellulitis of eyelids" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Inflammation of eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cellulitis of eyelids" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Inflammation of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D001762 xref: SNOMEDCT_US:231796003 xref: SNOMEDCT_US:41446000 @@ -5315,7 +5332,7 @@ id: HP:0000504 name: Abnormality of vision def: "Abnormality of eyesight (visual perception)." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of sight" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of sight" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Abnormality of vision" EXACT layperson [] synonym: "Vision issue" EXACT layperson [] xref: UMLS:C4025846 @@ -5349,10 +5366,10 @@ name: Telecanthus def: "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [HPO:probinson] comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. subset: hposlim_core -synonym: "Corners of eye widely separated" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Corners of eye widely separated" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dystopia canthorum" EXACT [] -synonym: "Increased distance between medial canthi" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased intercanthal distance" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Increased distance between medial canthi" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased intercanthal distance" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C562941 xref: SNOMEDCT_US:246803005 xref: UMLS:C0423113 @@ -5364,7 +5381,7 @@ name: Ptosis def: "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid:19125427] subset: hposlim_core synonym: "Blepharoptosis" EXACT [] -synonym: "Drooping upper eyelid" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Drooping upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Eye drop" RELATED layperson [] synonym: "Eyelid ptosis" EXACT [HPO:skoehler] xref: MSH:D001763 @@ -5438,9 +5455,9 @@ name: Slow saccadic eye movements def: "An abnormally slow velocity of the saccadic eye movements." [HPO:probinson] comment: Saccades are rapid eye movements that align the fovea with the target. subset: hposlim_core -synonym: "Slow eye movements" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Slow eye movements" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Slow saccades" EXACT [] -synonym: "Slow visual tracking" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Slow visual tracking" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:404686001 xref: UMLS:C1321329 is_a: HP:0000570 ! Abnormality of saccadic eye movements @@ -5456,7 +5473,7 @@ xref: MSH:D007905 xref: SNOMEDCT_US:10810001 xref: UMLS:C0023308 xref: UMLS:C0549651 -is_a: HP:0004328 ! Abnormality of the anterior segment of the globe +is_a: HP:0004328 ! Abnormal anterior segment morphology [Term] id: HP:0000518 @@ -5465,9 +5482,10 @@ def: "A cataract is an opacity or clouding that develops in the crystalline lens comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). subset: hposlim_core synonym: "Cataracts" EXACT [] -synonym: "Cloudy lens" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Cloudy lens" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Lens opacities" EXACT [] synonym: "Lens opacity" EXACT [] +xref: Fyler:4865 xref: MSH:D002386 xref: SNOMEDCT_US:128306009 xref: SNOMEDCT_US:193570009 @@ -5512,9 +5530,9 @@ comment: Some sources define "exophthalmos" as a protrusion of the globe greater subset: hposlim_core synonym: "Anterior bulging of the globe" EXACT [] synonym: "Anterior bulging of the globe of eye" EXACT [] -synonym: "Bulging eye" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bulging eye" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Exophthalmos" EXACT [] -synonym: "Eyeballs bulging out" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyeballs bulging out" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Ocular proptosis" EXACT [] synonym: "Prominent eyes" EXACT layperson [] synonym: "Prominent globes" EXACT layperson [] @@ -5534,9 +5552,9 @@ name: Alacrima def: "Absence of tear secretion." [HPO:probinson] comment: Alacrima is generally a congenital deficiency. subset: hposlim_core -synonym: "Absence of tears in the eyes" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Absent lacrimal fluids" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Absent tear secretion" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absence of tears in the eyes" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Absent lacrimal fluids" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Absent tear secretion" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C562827 xref: SNOMEDCT_US:253215004 xref: UMLS:C0344505 @@ -5575,14 +5593,14 @@ subset: hposlim_core synonym: "Abnormality of the iris" EXACT layperson [] xref: UMLS:C4025845 is_a: HP:0000553 ! Abnormality of the uvea -is_a: HP:0004328 ! Abnormality of the anterior segment of the globe +is_a: HP:0004328 ! Abnormal anterior segment morphology [Term] id: HP:0000526 name: Aniridia def: "Congenital absence of the iris." [HPO:probinson] subset: hposlim_core -synonym: "Absent iris" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015783 xref: SNOMEDCT_US:69278003 xref: UMLS:C0003076 @@ -5596,7 +5614,7 @@ def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subj comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. subset: hposlim_core synonym: "Ciliary trichomegaly" EXACT [] -synonym: "Increased length of eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased length of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long eyelashes" EXACT layperson [] synonym: "Unusually long eyelashes" EXACT layperson [] xref: UMLS:C1853738 @@ -5609,16 +5627,17 @@ alt_id: HP:0001485 alt_id: HP:0007664 def: "Absence of the globe or eyeball." [DDD:ncarter] subset: hposlim_core -synonym: "Absence of eyeballs" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of globes of eyes" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Absence of eyeballs" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of globes of eyes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Anophthalmia, clinical" EXACT [] synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT [] -synonym: "Failure of development of eyeball" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing eyeball" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Missing globe of eye" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "No eyeball" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "No globe of eye" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Ocular absence" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing eyeball" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Missing globe of eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "No eyeball" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "No globe of eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Ocular absence" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +xref: Fyler:4864 xref: MSH:D000853 xref: SNOMEDCT_US:204099004 xref: SNOMEDCT_US:7183006 @@ -5793,11 +5812,11 @@ id: HP:0000544 name: External ophthalmoplegia alt_id: HP:0007762 def: "Paralysis of the external ocular muscles." [HPO:probinson] -synonym: "Chronic progressive external ophthalmoplegia" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "CPEO" EXACT HP:0045077 [HPO:skoehler, orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Chronic progressive external ophthalmoplegia" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "CPEO" EXACT HP:0045077 [HPO:skoehler, ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Ophthalmoplegia externa" EXACT [] -synonym: "Progressive paralysis or weakness of muscles of eye motility" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Progressive paralysis or weakness of muscles of eye movement" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Progressive paralysis or weakness of muscles of eye motility" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Progressive paralysis or weakness of muscles of eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D009886 xref: MSH:D017246 xref: SNOMEDCT_US:19373007 @@ -5813,9 +5832,9 @@ alt_id: HP:0001110 alt_id: HP:0007847 def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] subset: hposlim_core -synonym: "Close sighted" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Near sighted" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Near sightedness" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Close sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Near sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Near sightedness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Nearsightedness" EXACT layperson [] xref: MSH:D009216 xref: SNOMEDCT_US:57190000 @@ -5827,9 +5846,9 @@ id: HP:0000546 name: Retinal degeneration alt_id: HP:0007632 alt_id: HP:0007863 -def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [HPO:probinson, UManchester:psergouniotis] +def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [HPO:probinson, ORCID:0000-0003-0986-4123] subset: hposlim_core -synonym: "Retina degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Retina degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012162 xref: SNOMEDCT_US:95695004 xref: UMLS:C0035304 @@ -5905,7 +5924,7 @@ is_a: HP:0030637 ! Cone dysfunction syndrome id: HP:0000552 name: Tritanomaly def: "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [HPO:probinson] -synonym: "Blue yellow color blindness" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Blue yellow color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Blue-yellow dyschromatopsia" EXACT [] synonym: "Blue/yellow color vision defect" RELATED [HPO:skoehler] synonym: "Dyschromatopsia, blue-yellow" EXACT [] @@ -5940,8 +5959,8 @@ id: HP:0000555 name: Leukocoria def: "An abnormal white reflection from the pupil rather than the usual black reflection." [HPO:probinson] comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). -synonym: "Leukokoria" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "White pupillary reflex" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Leukokoria" EXACT [ORCID:0000-0001-6908-9849] +synonym: "White pupillary reflex" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:1361009 xref: UMLS:C0152458 is_a: HP:0000615 ! Abnormal pupil morphology @@ -5953,7 +5972,7 @@ alt_id: HP:0007736 alt_id: HP:0007910 alt_id: HP:0007974 alt_id: HP:0007982 -def: "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [UManchester:psergouniotis] +def: "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [ORCID:0000-0003-0986-4123] xref: MSH:D058499 xref: SNOMEDCT_US:314407005 xref: UMLS:C0854723 @@ -5965,7 +5984,7 @@ name: Buphthalmos def: "Diffusely large eye (with megalocornea) associated with glaucoma." [] comment: Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. subset: hposlim_core -synonym: "Enlarged eyeball" EXACT layperson [http://orcid.org/0000-0001-5208-3432, https://en.wikipedia.org/wiki/buphthalmos] +synonym: "Enlarged eyeball" EXACT layperson [https://en.wikipedia.org/wiki/buphthalmos, ORCID:0000-0001-5208-3432] xref: MSH:D006871 xref: SNOMEDCT_US:204113001 xref: SNOMEDCT_US:246920008 @@ -6006,10 +6025,10 @@ def: "Lack of eyelashes." [HPO:curators, pmid:19125427] comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. subset: hposlim_core synonym: "Absent eyelashes" EXACT layperson [] -synonym: "Agenesis of eyelashes" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of eyelashes" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of eyelashes" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Atrichia of eyelashes" EXACT [] -synonym: "Failure of development of eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1843005 xref: UMLS:C4280626 xref: UMLS:C4280627 @@ -6021,8 +6040,8 @@ id: HP:0000563 name: Keratoconus def: "A cone-shaped deformity of the cornea." [HPO:probinson] subset: hposlim_core -synonym: "Bulging cornea" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Conical cornea" EXACT [http://orcid.org/0000-0001-5208-3432] +synonym: "Bulging cornea" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Conical cornea" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D007640 xref: SNOMEDCT_US:65636009 xref: UMLS:C0022578 @@ -6036,7 +6055,7 @@ alt_id: HP:0007729 def: "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [HPO:probinson] synonym: "Imperforate nasolacrimal ducts" EXACT [] synonym: "Nasolacrimal duct atresia" EXACT [] -synonym: "Unopened tear duct" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Unopened tear duct" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:278530008 xref: UMLS:C0344511 is_a: HP:0011481 ! Abnormal lacrimal duct morphology @@ -6047,8 +6066,7 @@ name: Esotropia def: "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [HPO:probinson] comment: Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. subset: hposlim_core -synonym: "Convergent strabismus" EXACT [] -synonym: "Inward turning cross eyed" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Inward turning cross eyed" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004948 xref: SNOMEDCT_US:16596007 xref: UMLS:C0014877 @@ -6076,12 +6094,13 @@ name: Microphthalmia alt_id: HP:0007996 def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] subset: hposlim_core -synonym: "Abnormally small eyeball" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormally small globe of eye" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of eyeball" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of globe of eye" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally small eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormally small globe of eye" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of eyeball" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of globe of eye" BROAD [ORCID:0000-0001-5889-4463] synonym: "Microphthalmos" EXACT [] synonym: "Nanophthalmos" RELATED [] +xref: Fyler:4877 xref: MSH:D008850 xref: SNOMEDCT_US:204108000 xref: SNOMEDCT_US:61142002 @@ -6128,12 +6147,13 @@ def: "Hemorrhage occurring within the retina." [HPO:gcarletti] comment: The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. subset: hposlim_core synonym: "Retinal bleeding" EXACT layperson [] -synonym: "Retinal hemorrhages" EXACT HP:0045078 [orcid.org/0000-0002-0736-9199] +synonym: "Retinal hemorrhages" EXACT HP:0045078 [ORCID:0000-0002-0736-9199] xref: MSH:D012166 xref: SNOMEDCT_US:28998008 xref: UMLS:C0035317 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0011885 ! Hemorrhage of the eye +is_a: HP:0031803 ! Fundus hemorrhage [Term] id: HP:0000574 @@ -6158,7 +6178,7 @@ id: HP:0000575 name: Scotoma def: "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:probinson] subset: hposlim_core -synonym: "Blind spot" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Blind spot" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009898 xref: MSH:D012607 xref: SNOMEDCT_US:23388006 @@ -6181,8 +6201,7 @@ id: HP:0000577 name: Exotropia def: "A form of strabismus with one or both eyes deviated outward." [HPO:probinson] subset: hposlim_core -synonym: "Divergent strabismus" EXACT [] -synonym: "Outward facing eye ball" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Outward facing eye ball" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D005099 xref: SNOMEDCT_US:399054005 xref: SNOMEDCT_US:399252000 @@ -6214,7 +6233,7 @@ alt_id: HP:0007869 alt_id: HP:0007934 alt_id: HP:0007961 alt_id: HP:0008010 -def: "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [] {comment="UManchester:psergouniotis"} +def: "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [ORCID:0000-0003-0986-4123] synonym: "Pigmentary retinal degeneration" EXACT [] synonym: "Pigmentary retinal deposits" EXACT [] synonym: "Retinal pigment clumping" EXACT [] @@ -6232,8 +6251,8 @@ alt_id: HP:0000513 def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [pmid:19125427] comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. subset: hposlim_core -synonym: "Decreased width of palpebral fissure" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Narrow opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased width of palpebral fissure" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Narrow opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D016569 xref: UMLS:C0005744 is_a: HP:0200007 ! Abnormal size of the palpebral fissures @@ -6248,7 +6267,7 @@ synonym: "Upslanted palpebral fissures" RELATED [HPO:skoehler] synonym: "Upslanting palpebral fissures" EXACT [] synonym: "Upward slanted palpebral fissures" EXACT [] synonym: "Upward slanting of palpebral fissures" EXACT [] -synonym: "Upward slanting of the opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Upward slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upward slanting palpebral fissures" EXACT [] xref: SNOMEDCT_US:246799009 xref: UMLS:C0423109 @@ -6276,10 +6295,10 @@ id: HP:0000586 name: Shallow orbits alt_id: HP:0002706 def: "Reduced depth of the orbits associated with prominent-appearing ocular globes." [HPO:probinson] -synonym: "Decreased depth of eye sockets" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased depth of orbits" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Shallow eye sockets" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small shallow orbits" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased depth of eye sockets" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased depth of orbits" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Shallow eye sockets" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small shallow orbits" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1865244 is_a: HP:0000520 ! Proptosis is_a: HP:3000030 ! Abnormality of bony orbit of skull @@ -6320,6 +6339,7 @@ def: "A developmental defect characterized by a cleft of some portion of the eye synonym: "Notched pupil" EXACT layperson [] synonym: "Ocular coloboma" EXACT [] synonym: "Ocular colobomas" EXACT [] +xref: Fyler:4311 xref: MSH:D003103 xref: SNOMEDCT_US:92828000 xref: SNOMEDCT_US:93390002 @@ -6343,7 +6363,7 @@ id: HP:0000591 name: Abnormal sclera morphology def: "An abnormality of the sclera." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of the outer white part of eyeball" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outer white part of eyeball" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the sclera" EXACT [] xref: UMLS:C4025840 is_a: HP:0012374 ! Abnormal globe morphology @@ -6353,7 +6373,7 @@ id: HP:0000592 name: Blue sclerae def: "An abnormal bluish coloration of the sclera." [HPO:probinson] subset: hposlim_core -synonym: "Blue outer white part of eyeball" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Blue outer white part of eyeball" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Blue sclera" EXACT [] synonym: "Bluish sclerae" EXACT [] xref: SNOMEDCT_US:204164000 @@ -6370,7 +6390,7 @@ synonym: "Anterior chamber anomalies" EXACT [] synonym: "Ocular anterior chamber abnormality" EXACT [] xref: SNOMEDCT_US:204142009 xref: UMLS:C3152182 -is_a: HP:0004328 ! Abnormality of the anterior segment of the globe +is_a: HP:0004328 ! Abnormal anterior segment morphology [Term] id: HP:0000594 @@ -6388,7 +6408,7 @@ alt_id: HP:0008044 def: "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] synonym: "Extraocular muscle palsy" EXACT [] synonym: "Extraocular muscle paralysis" EXACT [] -synonym: "Weakness of extraocular eye movement" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Weakness of extraocular eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D009886 xref: UMLS:C0751401 is_a: HP:0000496 ! Abnormality of eye movement @@ -6409,7 +6429,7 @@ is_a: HP:0000118 ! Phenotypic abnormality id: HP:0000599 name: Abnormality of the frontal hairline def: "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not." [HPO:probinson] -synonym: "Abnormality of hairline at front of head" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of hairline at front of head" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the frontal hairline" EXACT layperson [] xref: UMLS:C4025839 is_a: HP:0000290 ! Abnormality of the forehead @@ -6431,12 +6451,12 @@ name: Hypotelorism alt_id: HP:0007877 def: "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [HPO:probinson, pmid:19125427] subset: hposlim_core -synonym: "Abnormally close eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally close eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Closely spaced eyes" EXACT layperson [] -synonym: "Decreased distance between eye sockets" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased distance between eyes" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased interpupillary distance" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased orbital separation" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased distance between eye sockets" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased distance between eyes" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased interpupillary distance" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased orbital separation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Ocular hypotelorism" EXACT [] xref: SNOMEDCT_US:44593008 xref: UMLS:C0424711 @@ -6446,8 +6466,8 @@ is_a: HP:0100886 ! Abnormality of globe location id: HP:0000602 name: Ophthalmoplegia def: "Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson] -synonym: "Eye muscle paralysis" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Paralysis of extraocular eye movement" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Eye muscle paralysis" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Paralysis of extraocular eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D009886 xref: SNOMEDCT_US:16110005 xref: UMLS:C0029089 @@ -6458,7 +6478,7 @@ id: HP:0000603 name: Central scotoma def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [HPO:probinson] subset: hposlim_core -synonym: "Blind spot located at fixation point" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Blind spot located at fixation point" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Central scotomata" EXACT [] xref: MSH:D012607 xref: SNOMEDCT_US:38950008 @@ -6479,11 +6499,11 @@ is_a: HP:0000549 ! Abnormal conjugate eye movement id: HP:0000606 name: Abnormality of the periorbital region def: "An abnormality of the region situated around the orbit of the eye." [HPO:probinson] -synonym: "Abnormality of the region around the eye" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the region around the eye socket" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the periorbital region" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the periorbital region" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the periorbital region" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the region around the eye" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the region around the eye socket" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the periorbital region" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the periorbital region" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the periorbital region" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025837 is_a: HP:0000271 ! Abnormality of the face @@ -6491,9 +6511,9 @@ is_a: HP:0000271 ! Abnormality of the face id: HP:0000607 name: Periorbital wrinkles synonym: "Excess periorbital skin wrinkling" EXACT [] -synonym: "Periorbital rhytids" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Periorbital rhytids" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periorbital wrinkling" EXACT [] -synonym: "Wrinkles around the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Wrinkles around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844605 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0100678 ! Premature skin wrinkling @@ -6502,7 +6522,7 @@ is_a: HP:0100678 ! Premature skin wrinkling id: HP:0000608 name: Macular degeneration alt_id: HP:0007694 -def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." [HPO:probinson] {comment="UManchester:psergouniotis"} +def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." [HPO:probinson, ORCID:0000-0003-0986-4123] synonym: "Pigmented macular degeneration" EXACT [] xref: SNOMEDCT_US:422338006 xref: UMLS:C0024437 @@ -6515,7 +6535,7 @@ name: Optic nerve hypoplasia alt_id: HP:0007273 def: "Underdevelopment of the optic nerve." [HPO:probinson] synonym: "Hypoplastic optic nerves" EXACT [] -synonym: "Underdeveloped optic nerves" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped optic nerves" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95499004 xref: UMLS:C0338502 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system @@ -6547,7 +6567,7 @@ alt_id: HP:0007744 alt_id: HP:0007748 def: "A coloboma of the iris." [HPO:probinson, pmid:19369671] subset: hposlim_core -synonym: "Cat eye" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Cat eye" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Coloboma of iris" EXACT [] synonym: "Coloboma of the iris" EXACT [] synonym: "Keyhole iris" EXACT [] @@ -6561,7 +6581,7 @@ name: Photophobia def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:probinson] comment: Note that the term photodysphoria is used to describe extreme photophobia. subset: hposlim_core -synonym: "Extreme sensitivity of the eyes to light" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Extreme sensitivity of the eyes to light" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Light hypersensitivity" EXACT layperson [] synonym: "Photodysphoria" RELATED [] xref: MSH:D020795 @@ -6602,8 +6622,8 @@ id: HP:0000616 name: Miosis def: "Abnormal (non-physiological) constriction of the pupil." [HPO:probinson] subset: hposlim_core -synonym: "Constricted pupils" EXACT layperson [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Pupillary constriction" EXACT layperson [HPO:orcid.org/0000-0001-5889-4463] +synonym: "Constricted pupils" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Pupillary constriction" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D015877 xref: SNOMEDCT_US:63251006 xref: UMLS:C0026205 @@ -6632,6 +6652,7 @@ comment: Various scales have been developed to describe the extent of vision los subset: hposlim_core synonym: "Blindness" EXACT layperson [] synonym: "Legal blindness" RELATED layperson [] +xref: Fyler:4866 xref: MSH:D001766 xref: SNOMEDCT_US:65956007 xref: UMLS:C0271215 @@ -6655,7 +6676,7 @@ name: Dacryocystitis def: "Inflammation of the nasolacrimal sac." [HPO:probinson] comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis. synonym: "Dacrocystitis" EXACT [] -synonym: "Infection of the lacrimal sac" EXACT [https://en.wikipedia.org/wiki/dacryocystitis, orcid.org/0000-0001-5208-3432] +synonym: "Infection of the lacrimal sac" EXACT [https://en.wikipedia.org/wiki/dacryocystitis, ORCID:0000-0001-5208-3432] xref: MSH:D003607 xref: SNOMEDCT_US:85777005 xref: UMLS:C0010930 @@ -6664,12 +6685,12 @@ is_a: HP:0000614 ! Abnormal morphology of the nasolacrimal system [Term] id: HP:0000621 name: Entropion -def: "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital." [pmid:19125427, UManchester:psergouniotis] +def: "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital." [ORCID:0000-0003-0986-4123, pmid:19125427] comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. subset: hposlim_core -synonym: "Eyelid folded in" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Eyelid turned in" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Inverted eyelid" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelid folded in" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Eyelid turned in" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Inverted eyelid" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D004774 xref: SNOMEDCT_US:33168009 xref: UMLS:C0014390 @@ -6704,7 +6725,7 @@ comment: The lateral segment of the lower eyelid is most commonly involved. As t subset: hposlim_core synonym: "Cleft eyelid" EXACT layperson [] synonym: "Eyelid coloboma" EXACT [] -synonym: "Full thickness defect of the eyelid" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Full thickness defect of the eyelid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Notched eyelid" EXACT layperson [] xref: SNOMEDCT_US:95202004 xref: UMLS:C0521573 @@ -6728,7 +6749,7 @@ is_a: HP:0008048 ! Abnormality of the line of Schwalbe id: HP:0000629 name: Periorbital fullness def: "Increase in periorbital soft tissue." [HPO:sdoelken] -synonym: "Fullness around the eyes" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fullness around the eyes" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Periorbital puffiness" EXACT [] xref: UMLS:C1858036 is_a: HP:0000606 ! Abnormality of the periorbital region @@ -6768,7 +6789,7 @@ is_a: HP:0012373 ! Abnormal eye physiology id: HP:0000633 name: Decreased lacrimation def: "Abnormally decreased lacrimation, that is, reduced ability to produce tears." [HPO:probinson] -synonym: "Decreased tear secretion" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased tear secretion" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0235857 is_a: HP:0000632 ! Lacrimation abnormality @@ -6792,10 +6813,10 @@ is_a: HP:0008034 ! Abnormal iris pigmentation id: HP:0000636 name: Upper eyelid coloboma def: "A short discontinuity of the margin of the upper eyelid." [HPO:probinson] -synonym: "Cleft upper eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cleft upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Coloboma of the upper eyelid" EXACT [] -synonym: "Full thickness defect of the upper eyelid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Notched upper eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Full thickness defect of the upper eyelid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Notched upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upper eyelid colobomas" EXACT [] xref: UMLS:C1863872 is_a: HP:0000625 ! Eyelid coloboma @@ -6806,11 +6827,11 @@ name: Long palpebral fissure alt_id: HP:0007904 def: "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [pmid:19125427] subset: hposlim_core -synonym: "Broad opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Broad palpebral fissure" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Long opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Broad opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Broad palpebral fissure" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Long opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long palpebral fissures" EXACT [HPO:skoehler] -synonym: "Wide opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Wide opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide palpebral fissure" EXACT [HPO:skoehler] synonym: "Wide palpebral fissures" EXACT [] xref: UMLS:C1849340 @@ -6840,9 +6861,9 @@ id: HP:0000641 name: Dysmetric saccades def: "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [HPO:probinson, pmid:572501] subset: hposlim_core -synonym: "Dysmetric eye movements" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Dysmetric eye movements" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Dysmetric eye saccades" EXACT [] -synonym: "Uncoordinated eye movement" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Uncoordinated eye movement" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1836392 is_a: HP:0000570 ! Abnormality of saccadic eye movements @@ -6852,7 +6873,7 @@ name: Red-green dyschromatopsia alt_id: HP:0007960 def: "Difficulty with discriminating red and green hues." [DDD:gblack] synonym: "Dyschromatopsia with red-green confusion" EXACT [] -synonym: "Red green color blindness" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Red green color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Red/green color vision defect" RELATED [HPO:skoehler] xref: MSH:D003117 xref: SNOMEDCT_US:246674000 @@ -6866,10 +6887,10 @@ id: HP:0000643 name: Blepharospasm alt_id: HP:0007907 def: "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [HPO:probinson] -synonym: "Eyelid spasm" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Eyelid twitching" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Involuntary closure of eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Spontaneous closure of eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelid spasm" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Eyelid twitching" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Involuntary closure of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Spontaneous closure of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D001764 xref: SNOMEDCT_US:59026006 xref: UMLS:C0005747 @@ -6882,8 +6903,8 @@ name: Amblyopia def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." [HPO:probinson] comment: Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. subset: hposlim_core -synonym: "Lazy eye" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Wandering eye" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Lazy eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Wandering eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Wandering eyes" EXACT [HPO:skoehler] xref: MSH:D000550 xref: SNOMEDCT_US:387742006 @@ -6951,11 +6972,11 @@ id: HP:0000652 name: Lower eyelid coloboma alt_id: HP:0007909 def: "A short discontinuity of the margin of the lower eyelid." [HPO:probinson] -synonym: "Cleft lower eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cleft lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Coloboma of lower eyelid" EXACT [] -synonym: "Full thickness defect of the lower eyelid" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Full thickness defect of the lower eyelid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lower lid coloboma" EXACT [] -synonym: "Notched lower eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Notched lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1837826 is_a: HP:0000625 ! Eyelid coloboma @@ -6970,12 +6991,12 @@ alt_id: HP:0004777 alt_id: HP:0007853 def: "Decreased density/number of eyelashes." [pmid:19125427] subset: hposlim_core -synonym: "Hypotrichosis of eyelashes" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Partial absence of eyelashes" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrichosis of eyelashes" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Partial absence of eyelashes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Scant eyelashes" EXACT layperson [] synonym: "Scanty eyelashes" EXACT layperson [] synonym: "Sparse eyelashes" EXACT layperson [] -synonym: "Thin eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1843300 is_a: HP:0008070 ! Sparse hair is_a: HP:0200102 ! Sparse or absent eyelashes @@ -7002,7 +7023,7 @@ is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram [Term] id: HP:0000655 name: Vitreoretinal degeneration -def: "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [HPO:probinson, PMID:18179896] {comment="UManchester:psergouniotis"} +def: "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [HPO:probinson, ORCID:0000-0003-0986-4123, PMID:18179896] subset: hposlim_core xref: SNOMEDCT_US:247182006 xref: UMLS:C0344290 @@ -7014,9 +7035,9 @@ name: Ectropion def: "An outward turning (eversion) or rotation of the eyelid margin." [pmid:19125427] comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. subset: hposlim_core -synonym: "Everted eyelid" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Eyelid folded out" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Eyelid turned out" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Everted eyelid" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Eyelid folded out" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Eyelid turned out" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D004483 xref: SNOMEDCT_US:127559009 xref: SNOMEDCT_US:62909004 @@ -7043,7 +7064,7 @@ is_a: HP:0002186 ! Apraxia [Term] id: HP:0000658 name: Eyelid apraxia -synonym: "Difficulty opening the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Difficulty opening the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:423142006 xref: UMLS:C1142448 is_a: HP:0000492 ! Abnormal eyelid morphology @@ -7086,7 +7107,7 @@ subset: hposlim_core synonym: "Difficulties with night vision" RELATED layperson [] synonym: "Night blindness" EXACT layperson [] synonym: "Night-blindness" EXACT layperson [] -synonym: "Poor night vision" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Poor night vision" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D009755 xref: SNOMEDCT_US:65194006 xref: UMLS:C0028077 @@ -7099,7 +7120,7 @@ name: Synophrys alt_id: HP:0002210 def: "Meeting of the medial eyebrows in the midline." [pmid:19125427] subset: hposlim_core -synonym: "Monobrow" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Monobrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Synophris" EXACT [] synonym: "Unibrow" EXACT layperson [] xref: SNOMEDCT_US:253207002 @@ -7134,8 +7155,8 @@ name: Hypodontia def: "A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing." [HPO:ibailleulforestier] comment: Hypodontia refers to a reduced number of primary or permanent teeth. Hypodontia may affect either both primary and permanent teeth or only the permanent teeth. Wisdom teeth (the third secondary maxillary and mandibular molar teeth) are not included in this count. subset: hposlim_core -synonym: "Failure of development of between one and six teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing between one and six teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of between one and six teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing between one and six teeth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D000848 xref: SNOMEDCT_US:64969001 xref: UMLS:C0020608 @@ -7150,15 +7171,15 @@ def: "Caries is a multifactorial bacterial infection affecting the structure of comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. subset: hposlim_core synonym: "Caries" EXACT [] -synonym: "Cariosity of teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cariosity of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dental caries" EXACT [] -synonym: "Dental cavities" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dental cavities" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dental decay" RELATED layperson [] synonym: "Early dental caries" EXACT [] synonym: "Frequent caries" EXACT [] -synonym: "Rotting teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tooth cavities" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tooth decay" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Rotting teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Tooth cavities" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Tooth decay" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003731 xref: SNOMEDCT_US:80967001 xref: UMLS:C0011334 @@ -7171,14 +7192,14 @@ name: Anodontia alt_id: HP:0006484 def: "The congenital absence of all teeth." [HPO:ibailleulforestier] comment: Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. -synonym: "Anodontia vera" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Complete agenesis of all teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Complete anodontia" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anodontia vera" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Complete agenesis of all teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Complete anodontia" NARROW [ORCID:0000-0001-5889-4463] synonym: "Dental agenesis" EXACT [] -synonym: "Failure of development of all teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing all teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Total absence of all teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Total anodontia" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of all teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing all teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Total absence of all teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Total anodontia" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D000848 xref: SNOMEDCT_US:16958000 xref: SNOMEDCT_US:26624006 @@ -7190,14 +7211,14 @@ is_a: HP:0009804 ! Reduced number of teeth id: HP:0000675 name: Macrodontia of permanent maxillary central incisor def: "Increased size of the maxillary central secondary incisor tooth." [HPO:ibailleulforestier] -synonym: "Hyperplasia of permanent maxillary central incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of permanent maxillary central incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of permanent maxillary central incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of permanent upper central incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of permanent maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of permanent upper central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Large permanent maxillary central incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Large permanent upper central incisor" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased size of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased size of permanent upper central incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased width of permanent maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased width of permanent upper central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Large permanent upper central incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Long maxillary central incisors" EXACT [] synonym: "Prominent upper incisors" EXACT [] synonym: "Prominent, protruding upper incisors" EXACT [] @@ -7221,9 +7242,9 @@ name: Oligodontia alt_id: HP:0000702 def: "A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing." [HPO:curators, pmid:19125428] comment: The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. -synonym: "Failure of development of more than six teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing more than six teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Number of teeth decreased by more than six" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of more than six teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing more than six teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Number of teeth decreased by more than six" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Partial anodontia" EXACT [] xref: UMLS:C4082304 xref: UMLS:C4280619 @@ -7237,10 +7258,10 @@ subset: hposlim_core synonym: "Crowded teeth" EXACT layperson [] synonym: "Dental crowding" EXACT layperson [] synonym: "Dental overcrowding" EXACT layperson [] -synonym: "Inadequate arch length for tooth size" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Overcrowding of teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tooth mass arch size discrepancy" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Tooth size discrepancy" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Inadequate arch length for tooth size" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Overcrowding of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Tooth mass arch size discrepancy" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Tooth size discrepancy" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D008310 xref: SNOMEDCT_US:12351004 xref: SNOMEDCT_US:699222000 @@ -7256,8 +7277,8 @@ name: Taurodontia def: "Increased volume of dental pulp of permanent molar." [HPO:ibailleulforestier] comment: Body of the tooth and pulp chamber is enlarged. subset: hposlim_core -synonym: "Large elongated pulp chamber" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Taurodont" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Large elongated pulp chamber" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Taurodont" EXACT [ORCID:0000-0001-5889-4463] synonym: "Taurodontism" EXACT [] xref: MSH:C536946 xref: SNOMEDCT_US:51744007 @@ -7271,13 +7292,13 @@ is_a: HP:0011071 ! Abnormality of permanent molar morphology id: HP:0000680 name: Delayed eruption of primary teeth def: "Delayed tooth eruption affecting the primary dentition." [HPO:ibailleulforestier] -synonym: "Delayed eruption of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Delayed eruption of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Delayed eruption of deciduous teeth" EXACT [] -synonym: "Delayed eruption of milk teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Delayed eruption of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Delayed primary teeth eruption" EXACT [] -synonym: "Late eruption of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Late eruption of milk teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Late eruption of primary teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Late eruption of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Late eruption of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Late eruption of primary teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849538 is_a: HP:0000684 ! Delayed eruption of teeth is_a: HP:0006481 ! Abnormality of primary teeth @@ -7290,12 +7311,12 @@ def: "An abnormality of the dental enamel." [HPO:probinson] comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. subset: hposlim_core synonym: "Abnormal tooth enamel" EXACT layperson [] -synonym: "Defective tooth enamel" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dystrophic tooth enamel" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Defective tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Dystrophic tooth enamel" NARROW [ORCID:0000-0001-5889-4463] synonym: "Enamel abnormalities" EXACT layperson [] synonym: "Enamel abnormality" EXACT layperson [] -synonym: "Malformation of dental enamel" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of tooth enamel" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Malformation of dental enamel" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021800 xref: UMLS:C4280262 xref: UMLS:C4280615 @@ -7307,8 +7328,8 @@ id: HP:0000683 name: Grayish enamel def: "A grey discoloration of the dental enamel." [HPO:ibailleulforestier] comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. -synonym: "Gray colored tooth enamel" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Gray tooth shade" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Gray colored tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Gray tooth shade" EXACT [ORCID:0000-0001-5889-4463] synonym: "Grayish enamel" EXACT layperson [] synonym: "Greyish enamel" EXACT layperson [] xref: UMLS:C1854783 @@ -7345,9 +7366,9 @@ alt_id: HP:0000688 alt_id: HP:0006281 alt_id: HP:0006307 def: "Developmental hypoplasia of teeth." [HPO:ibailleulforestier] -synonym: "Decreased size of teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic teeth" EXACT [] -synonym: "Underdevelopment of teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Underdevelopment of teeth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0235357 xref: UMLS:C4280611 is_a: HP:0011061 ! Abnormality of dental structure @@ -7358,8 +7379,8 @@ name: Widely spaced teeth def: "Increased spaces (diastemata) between most of the teeth in the same dental arch." [pmid:19125428] comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. subset: hposlim_core -synonym: "Generalized dental spacing" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Generalized spacing of teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Generalized dental spacing" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Generalized spacing of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple diastemata" EXACT [] synonym: "Wide-spaced teeth" EXACT layperson [] synonym: "Widely spaced teeth" EXACT layperson [] @@ -7371,14 +7392,14 @@ is_a: HP:0000692 ! Misalignment of teeth id: HP:0000689 name: Dental malocclusion def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] -synonym: "Angle class 2 malocclusion" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Angle class 3 malocclusion" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Bad bite" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Incorrect relation between upper and lower dental arches" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Malalignment of upper and lower dental arches" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Angle class 2 malocclusion" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Angle class 3 malocclusion" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Bad bite" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Incorrect relation between upper and lower dental arches" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Malalignment of upper and lower dental arches" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Malocclusion" EXACT [] -synonym: "Malocclusion of teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Misalignment of upper and lower dental arches" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Malocclusion of teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Misalignment of upper and lower dental arches" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D008310 xref: SNOMEDCT_US:47944004 xref: SNOMEDCT_US:707598004 @@ -7391,12 +7412,12 @@ is_a: HP:0000692 ! Misalignment of teeth id: HP:0000690 name: Agenesis of maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [HPO:ibailleulforestier] -synonym: "Absence of maxillary lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of upper lateral incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of upper lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absent upper lateral incisors" EXACT [] -synonym: "Failure of development of maxillary lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing maxillary lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper lateral incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing upper lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1849950 xref: UMLS:C4083046 is_a: HP:0200153 ! Agenesis of lateral incisor @@ -7408,11 +7429,11 @@ name: Microdontia def: "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [HPO:ibailleulforestier, pmid:19125428] comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. subset: hposlim_core -synonym: "Decreased size of tooth" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic tooth" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of tooth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of tooth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic tooth" BROAD [ORCID:0000-0001-5889-4463] synonym: "Small teeth" EXACT [] -synonym: "Small tooth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Small tooth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:32337007 xref: UMLS:C0240340 xref: UMLS:C4280611 @@ -7429,10 +7450,10 @@ alt_id: HP:0006478 def: "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." [HPO:ibailleulforestier] synonym: "Abnormal dental position" EXACT layperson [] synonym: "Abnormal teeth spacing" EXACT layperson [] -synonym: "Abnormality of alignment of teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of position of teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of alignment of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of position of teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of teeth spacing" EXACT layperson [] -synonym: "Crooked teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Crooked teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Malaligned teeth" EXACT layperson [] synonym: "Malposition of teeth" EXACT layperson [] synonym: "Malpositioned teeth" EXACT layperson [] @@ -7445,9 +7466,9 @@ is_a: HP:0000164 ! Abnormality of the dentition id: HP:0000694 name: Shell teeth def: "A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin." [HPO:ibailleulforestier] -synonym: "Teeth with dentinal dysplasia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Teeth with thin dentin and large pulp chambers" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Teeth with type iii dentinogenesis imperfecta" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Teeth with dentinal dysplasia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Teeth with thin dentin and large pulp chambers" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Teeth with type iii dentinogenesis imperfecta" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:67504007 xref: UMLS:C2981132 is_a: HP:0000703 ! Dentinogenesis imperfecta @@ -7457,10 +7478,10 @@ id: HP:0000695 name: Natal tooth def: "Erupted tooth or teeth at birth." [pmid:19125428] subset: hposlim_core -synonym: "Born with teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Born with teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Natal teeth" EXACT [] synonym: "Neonatal teeth" EXACT [] -synonym: "Teeth present at birth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Teeth present at birth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D009306 xref: SNOMEDCT_US:21995002 xref: SNOMEDCT_US:58748004 @@ -7471,7 +7492,7 @@ is_a: HP:0006288 ! Advanced eruption of teeth id: HP:0000696 name: Delayed eruption of permanent teeth def: "Delayed tooth eruption affecting the secondary dentition." [HPO:ibailleulforestier] -synonym: "Delayed eruption of adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Delayed eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Delayed eruption of permanent teeth" EXACT layperson [] synonym: "Delayed eruption of secondary dentition" EXACT [] synonym: "Delayed eruption of secondary teeth" EXACT [] @@ -7484,15 +7505,15 @@ id: HP:0000698 name: Conical tooth def: "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally." [HPO:ibailleulforestier] subset: hposlim_core -synonym: "Cone shaped tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cone shaped tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Conical teeth" RELATED [] -synonym: "Conoid tooth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Conoid tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Peg shaped teeth" EXACT [] -synonym: "Peg shaped tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Peg shaped tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Peg tooth" EXACT [] synonym: "Peg-shaped teeth" EXACT [] -synonym: "Pointed tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Shark tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pointed tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:29553002 xref: UMLS:C0266037 xref: UMLS:C4012359 @@ -7504,11 +7525,11 @@ name: Diastema def: "Increased space between two adjacent teeth in the same dental arch." [pmid:19125428] comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. subset: hposlim_core -synonym: "Dental diastasis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Dental diastema" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Diastasis of the teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Diastema of the teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Gaps between teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dental diastasis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Dental diastema" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Diastasis of the teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Diastema of the teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Gaps between teeth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003970 xref: SNOMEDCT_US:35591002 xref: UMLS:C0011998 @@ -7519,11 +7540,11 @@ id: HP:0000700 name: Periapical bone loss def: "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [HPO:ibailleulforestier] comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. -synonym: "Bone loss around tooth root" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dark spot around tooth root on x-ray" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Periapical cyst" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Periapical granuloma" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Periapical lesion" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Bone loss around tooth root" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Dark spot around tooth root on x-ray" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Periapical cyst" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Periapical granuloma" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Periapical lesion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periapical radiolucencies" RELATED [] synonym: "Periapical radiolucency" RELATED [] xref: MSH:D010484 @@ -7555,9 +7576,9 @@ alt_id: HP:0000165 alt_id: HP:0006301 def: "Inflammation of the periodontium." [HPO:ibailleulforestier] subset: hposlim_core -synonym: "Gum disease" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Periodontal disease" BROAD [] -synonym: "Pyorrhea" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Pyorrhea" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D005882 xref: MSH:D010510 xref: MSH:D010518 @@ -7591,10 +7612,10 @@ is_a: HP:0000682 ! Abnormality of dental enamel id: HP:0000706 name: Unerupted tooth def: "The presence of one or more embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier] -synonym: "Failure of eruption of tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of eruption of tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pseudo-anodontia" EXACT [] synonym: "Pseudoanodontia" EXACT [] -synonym: "Unerupted dentition" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Unerupted dentition" BROAD [ORCID:0000-0001-5889-4463] synonym: "Unerupted tooth" EXACT layperson [] xref: SNOMEDCT_US:109542004 xref: UMLS:C1290587 @@ -7843,7 +7864,7 @@ alt_id: HP:0008758 alt_id: HP:0008759 def: "A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral." [HPO:probinson] comment: An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. -synonym: "Repetitive movements" EXACT layperson [orcid.org/0000-0001-9114-8737] +synonym: "Repetitive movements" EXACT layperson [ORCID:0000-0001-9114-8737] synonym: "Repetitive or self-injurious behavior" EXACT layperson [] synonym: "Stereotyped behavior" EXACT [] synonym: "Stereotyped behaviors" RELATED [HPO:skoehler] @@ -7887,7 +7908,7 @@ is_a: HP:0012433 ! Abnormal social behavior id: HP:0000736 name: Short attention span def: "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] -synonym: "Easily distracted" BROAD [] {comment="layperson"} +synonym: "Easily distracted" BROAD layperson [] synonym: "Poor attention span" EXACT layperson [] synonym: "Problem paying attention" EXACT layperson [] synonym: "Short attention span" EXACT layperson [] @@ -7909,7 +7930,7 @@ name: Hallucinations def: "Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space." [HPO:sdoelken] synonym: "Hallucination" EXACT layperson [] synonym: "Hallucinations" EXACT layperson [] -synonym: "Sensory hallucination" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Sensory hallucination" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006212 xref: SNOMEDCT_US:7011001 xref: UMLS:C0018524 @@ -7923,6 +7944,7 @@ def: "Intense feelings of nervousness, tenseness, or panic, often in reaction to synonym: "Anxiety" EXACT layperson [] synonym: "Anxiety disease" RELATED layperson [] synonym: "Anxiousness" EXACT [] +synonym: "Excessive, persistent worry and fear" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D001007 xref: SNOMEDCT_US:48694002 xref: UMLS:C0003467 @@ -7948,7 +7970,7 @@ is_a: HP:0000745 ! Diminished motivation [Term] id: HP:0000742 name: Self-mutilation -synonym: "Deliberate self-harm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Deliberate self-harm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Self mutilation" EXACT layperson [] synonym: "Self-mutilation" EXACT layperson [] xref: MSH:D012652 @@ -8083,7 +8105,7 @@ is_a: HP:0000729 ! Autistic behavior id: HP:0000756 name: Agoraphobia def: "A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather." [HPO:probinson] -synonym: "Fear of open spaces" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fear of open spaces" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D000379 xref: SNOMEDCT_US:247830007 xref: SNOMEDCT_US:70691001 @@ -8213,7 +8235,7 @@ name: Pectus carinatum alt_id: HP:0006639 def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:probinson] subset: hposlim_core -synonym: "Pigeon chest" EXACT layperson [https://en.wikipedia.org/wiki/pectus_carinatum, orcid.org/0000-0001-5208-3432] +synonym: "Pigeon chest" EXACT layperson [https://en.wikipedia.org/wiki/pectus_carinatum, ORCID:0000-0001-5208-3432] xref: MSH:D066166 xref: SNOMEDCT_US:205101001 xref: UMLS:C0158731 @@ -8322,7 +8344,7 @@ is_a: HP:0100763 ! Abnormality of the lymphatic system id: HP:0000778 name: Hypoplasia of the thymus def: "Underdevelopment of the thymus." [HPO:curators] -synonym: "Small thymus" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small thymus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Thymus hypoplasia" EXACT [] xref: SNOMEDCT_US:93297002 xref: UMLS:C0685891 @@ -8334,7 +8356,7 @@ id: HP:0000782 name: Abnormality of the scapula def: "Any abnormality of the scapula, also known as the shoulder blade." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of the shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025828 is_a: HP:0000765 ! Abnormality of the thorax @@ -8372,7 +8394,7 @@ is_a: HP:0000144 ! Decreased fertility id: HP:0000790 name: Hematuria def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] -synonym: "Blood in urine" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Blood in urine" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "High urine occult blood" BROAD layperson [] xref: MSH:D006417 xref: SNOMEDCT_US:34436003 @@ -8436,7 +8458,7 @@ is_a: HP:0000795 ! Abnormality of the urethra id: HP:0000798 name: Oligospermia def: "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen." [HPO:probinson] -synonym: "Low sperm count" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low sperm count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009845 xref: UMLS:C0028960 is_a: HP:0008669 ! Abnormal spermatogenesis @@ -8627,7 +8649,7 @@ alt_id: HP:0003222 alt_id: HP:0008203 def: "Deficiency of thyroid hormone." [HPO:probinson] synonym: "Low T4" EXACT [] -synonym: "Underactive thyroid" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underactive thyroid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007037 xref: SNOMEDCT_US:40930008 xref: UMLS:C0020676 @@ -8641,7 +8663,7 @@ alt_id: HP:0005126 def: "The presence of chronic increased pressure in the systemic arterial system." [HPO:probinson] comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. synonym: "Elevated blood pressure" RELATED layperson [] -synonym: "High blood pressure" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood pressure" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Increased blood pressure" RELATED layperson [] synonym: "Systemic hypertension" EXACT [] xref: MSH:D006973 @@ -8698,7 +8720,7 @@ is_a: HP:0000842 ! Hyperinsulinemia id: HP:0000826 name: Precocious puberty def: "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:probinson] -synonym: "Early onset of puberty" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Early onset of puberty" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Early puberty" EXACT layperson [] xref: MSH:D011629 xref: SNOMEDCT_US:123527003 @@ -8797,7 +8819,7 @@ id: HP:0000836 name: Hyperthyroidism alt_id: HP:0008241 def: "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." [HPO:probinson] -synonym: "Overactive thyroid" EXACT layperson [http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986, orcid.org/0000-0001-5208-3432] +synonym: "Overactive thyroid" EXACT layperson [http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986, ORCID:0000-0001-5208-3432] xref: MSH:D006980 xref: SNOMEDCT_US:34486009 xref: UMLS:C0020550 @@ -8864,7 +8886,7 @@ is_a: HP:0040215 ! Abnormal circulating insulin level id: HP:0000843 name: Hyperparathyroidism def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [HPO:probinson] -synonym: "Elevated blood parathyroid hormone level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Elevated blood parathyroid hormone level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006961 xref: SNOMEDCT_US:66999008 xref: UMLS:C0020502 @@ -9013,8 +9035,8 @@ is_a: HP:0002717 ! Adrenal overactivity id: HP:0000860 name: Parathyroid hypoplasia def: "Developmental hypoplasia of the parathyroid gland." [HPO:probinson] -synonym: "Small parathyroid glands" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped parathyroid glands" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1389851 is_a: HP:0011768 ! Parathyroid dysgenesis @@ -9114,7 +9136,7 @@ is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000875 name: Episodic hypertension -synonym: "Intermittent high blood pressure" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Intermittent high blood pressure" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1857175 is_a: HP:0000822 ! Hypertension @@ -9168,7 +9190,7 @@ synonym: "Scapular hypoplasia" EXACT [] synonym: "Short scapulae" EXACT [] synonym: "Small scapula" EXACT [] synonym: "Small scapulae" EXACT [] -synonym: "Small shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846434 is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae @@ -9240,7 +9262,7 @@ name: Abnormality of the clavicle def: "Any abnormality of the clavicles (collar bones)." [HPO:probinson] subset: hposlim_core synonym: "Abnormal clavicles" EXACT [] -synonym: "Abnormal collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021792 is_a: HP:0000765 ! Abnormality of the thorax @@ -9250,7 +9272,7 @@ name: Long clavicles alt_id: HP:0006592 def: "Increased length of the clavicles." [HPO:probinson] synonym: "Elongated clavicles" EXACT [] -synonym: "Long collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Long collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:249687007 xref: UMLS:C0426808 is_a: HP:0000889 ! Abnormality of the clavicle @@ -9268,8 +9290,8 @@ is_a: HP:0005815 ! Supernumerary ribs id: HP:0000892 name: Bifid ribs def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [HPO:probinson] -synonym: "Cleft ribs" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Split ribs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cleft ribs" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Split ribs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:66102006 xref: UMLS:C0265695 is_a: HP:0000772 ! Abnormality of the ribs @@ -9293,7 +9315,7 @@ def: "Reduced length of the clavicles." [HPO:probinson] subset: hposlim_core synonym: "Clavicular hypoplasia" EXACT [] synonym: "Hypoplastic clavicles" EXACT [] -synonym: "Short collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped clavicles" EXACT [] xref: SNOMEDCT_US:93250003 xref: UMLS:C0426799 @@ -9304,7 +9326,7 @@ id: HP:0000895 name: Lateral clavicle hook def: "An excessive upward convexity of the lateral clavicle." [HPO:probinson, pmid:7322653] synonym: "Hook-shaped clavicle" EXACT [] -synonym: "Hook-shaped collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hook-shaped collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hooked clavicle" EXACT [] xref: SNOMEDCT_US:249684000 xref: UMLS:C0426805 @@ -9398,8 +9420,8 @@ def: "A congenital skeletal deformity characterized by the elevation of one scap comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. subset: hposlim_core synonym: "Congenital, upward displacement of the scapula" EXACT [] -synonym: "High scapula" EXACT [https://en.wikipedia.org/wiki/sprengel%27s_deformity, orcid.org/0000-0001-5208-3432] -synonym: "High schoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High scapula" EXACT [https://en.wikipedia.org/wiki/sprengel%27s_deformity, ORCID:0000-0001-5208-3432] +synonym: "High schoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sprengel deformity" EXACT [] xref: MEDDRA:10010455 "Congenital elevation of scapula" xref: MSH:C535802 @@ -9419,7 +9441,7 @@ id: HP:0000914 name: Shield chest def: "A broad chest." [HPO:probinson, pmid:22368597] comment: Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome. -synonym: "Broad chest" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad chest" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Shield chest" EXACT layperson [] xref: UMLS:C1834124 xref: UMLS:C1839248 @@ -9439,7 +9461,7 @@ name: Broad clavicles alt_id: HP:0006651 def: "Increased width (cross-sectional diameter) of the clavicles." [HPO:probinson] subset: hposlim_core -synonym: "Broad collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:249680009 xref: UMLS:C0426801 is_a: HP:0000889 ! Abnormality of the clavicle @@ -9457,7 +9479,7 @@ id: HP:0000918 name: Scapular exostoses def: "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage." [HPO:probinson] synonym: "Scapulae exostoses" EXACT [] -synonym: "Shoulder bone exostoes" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Shoulder bone exostoes" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1851415 is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0100777 ! Exostoses @@ -9555,7 +9577,7 @@ alt_id: HP:0008466 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates." [HPO:probinson] subset: hposlim_core synonym: "Flat vertebral bodies" EXACT [] -synonym: "Flattened vertebrae" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flattened vertebrae" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flattened vertebral bodies" EXACT [] xref: UMLS:C1844704 is_a: HP:0003312 ! Abnormal form of the vertebral bodies @@ -9573,7 +9595,7 @@ id: HP:0000929 name: Abnormality of the skull def: "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:probinson] synonym: "Abnormality of the skull" EXACT layperson [] -synonym: "Abnormality of the skull bones" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the skull bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0235942 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0009121 ! Abnormal axial skeleton morphology @@ -9581,19 +9603,19 @@ is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000930 name: Elevated imprint of the transverse sinuses -synonym: "Elevated imprint of occipital bone over the transverse sinuses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Elevated imprint of posterior skull bones over the transverse sinuses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Thinning and bulging of occipital bone over the transverse sinuses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Thinning and bulging of posterior skull bones over the transverse sinuses" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Elevated imprint of occipital bone over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Elevated imprint of posterior skull bones over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Thinning and bulging of occipital bone over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Thinning and bulging of posterior skull bones over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025817 is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000931 name: Thinning and bulging of the posterior fossa bones -synonym: "Thinning and bulging of occipital bone of skull" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Thinning and bulging of occipital bone of skull" NARROW [ORCID:0000-0001-5889-4463] synonym: "Thinning and bulging of posterior fossa bones" EXACT [] -synonym: "Thinning and bulging of posterior skull bones" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Thinning and bulging of posterior skull bones" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021788 xref: UMLS:C4280608 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa @@ -9627,7 +9649,7 @@ xref: SNOMEDCT_US:239838005 xref: UMLS:C0553730 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0010766 ! Ectopic calcification -is_a: HP:0100685 ! Abnormality of Sharpey fibers +is_a: HP:0100685 ! Abnormal Sharpey fiber morphology [Term] id: HP:0000935 @@ -9670,7 +9692,7 @@ is_a: HP:0004349 ! Reduced bone mineral density id: HP:0000940 name: Abnormal diaphysis morphology def: "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [HPO:probinson] -synonym: "Abnormal shape of shaft of long bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the diaphyses" EXACT [] xref: UMLS:C4021787 is_a: HP:0011314 ! Abnormality of long bone morphology @@ -9678,7 +9700,7 @@ is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000941 name: Short diaphyses -synonym: "Short shaft of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025815 is_a: HP:0000940 ! Abnormal diaphysis morphology @@ -9697,7 +9719,7 @@ id: HP:0000944 name: Abnormality of the metaphysis alt_id: HP:0006506 def: "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [HPO:probinson] -synonym: "Abnormality of the wide portion of a long bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025814 is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0011314 ! Abnormality of long bone morphology @@ -9710,7 +9732,7 @@ alt_id: HP:0003178 def: "Underdevelopment of the ilium." [HPO:probinson] synonym: "Short and small iliac bones" EXACT [] synonym: "Small iliac bones" EXACT [] -synonym: "Small wings of the pelvic girdle" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Small wings of the pelvic girdle" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861218 xref: UMLS:C4280607 is_a: HP:0002867 ! Abnormality of the ilium @@ -9754,10 +9776,10 @@ is_a: HP:0001574 ! Abnormality of the integument id: HP:0000952 name: Jaundice def: "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] -synonym: "Icterus" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Icterus" EXACT [ORCID:0000-0001-6908-9849] synonym: "Jaundice" EXACT layperson [] -synonym: "Yellow skin" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Yellowing of the skin" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Yellow skin" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Yellowing of the skin" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007565 xref: SNOMEDCT_US:18165001 xref: UMLS:C0022346 @@ -9790,7 +9812,7 @@ comment: The presence of a single palmar crease (instead of the two palmar creas subset: hposlim_core synonym: "Simian crease" EXACT [] synonym: "Simian creases" EXACT [] -synonym: "Simian line" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Simian line" EXACT [ORCID:0000-0001-6908-9849] synonym: "Single flexion crease" EXACT [] synonym: "Single palmar crease" EXACT [] synonym: "Single palmar creases" EXACT [] @@ -9809,7 +9831,7 @@ alt_id: HP:0007591 def: "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [DDD:cmoss, pmid:19061584] comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. subset: secondary_consequence -synonym: "Keratosis nigricans" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Keratosis nigricans" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D000052 xref: SNOMEDCT_US:402599005 xref: SNOMEDCT_US:72129000 @@ -9823,9 +9845,9 @@ alt_id: HP:0005601 alt_id: HP:0007454 def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [HPO:probinson] comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. -synonym: "Birthmark" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Birthmark" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Cafe au lait spots" EXACT [] -synonym: "Cafe-au-lait macule" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Cafe-au-lait macule" EXACT [ORCID:0000-0001-6908-9849] synonym: "Cafe-au-lait macules" EXACT [] synonym: "Cafe-au-lait spots" RELATED [HPO:skoehler] xref: MSH:D019080 @@ -9854,7 +9876,7 @@ name: Sacral dimple def: "A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] subset: hposlim_core synonym: "Pilonidal dimple" EXACT [] -synonym: "Spinal dimple" EXACT layperson [https://en.wikipedia.org/wiki/sacral_dimple, orcid.org/0000-0001-6908-9849] +synonym: "Spinal dimple" EXACT layperson [https://en.wikipedia.org/wiki/sacral_dimple, ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:249729002 xref: SNOMEDCT_US:311897005 xref: UMLS:C0426848 @@ -9927,7 +9949,7 @@ def: "Abnormally diminished capacity to sweat." [HPO:probinson] subset: hposlim_core synonym: "Decreased ability to sweat" EXACT layperson [] synonym: "Decreased sweating" EXACT layperson [] -synonym: "Inadequate sweating" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Inadequate sweating" EXACT [ORCID:0000-0001-6908-9849] synonym: "Oligohidrosis" EXACT [] synonym: "Sweating, decreased" EXACT layperson [] xref: MEDDRA:10021013 "Hypohidrosis" @@ -9966,7 +9988,7 @@ name: Edema alt_id: HP:0000990 def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:probinson] comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. -synonym: "Dropsy" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Dropsy" EXACT [ORCID:0000-0001-6908-9849] synonym: "Fluid retention" EXACT layperson [] synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] @@ -9984,9 +10006,9 @@ id: HP:0000970 name: Anhidrosis def: "Inability to sweat." [HPO:probinson] subset: hposlim_core -synonym: "Lack of sweating" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, orcid.org/0000-0001-5208-3432] -synonym: "Sudomotor dysfunction" EXACT [http://www.medicalnewstoday.com/articles/266427.php, orcid.org/0000-0001-5208-3432] -synonym: "Sweating dysfunction" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, orcid.org/0000-0001-5208-3432] +synonym: "Lack of sweating" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432] +synonym: "Sudomotor dysfunction" EXACT [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432] +synonym: "Sweating dysfunction" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432] xref: MEDDRA:10002512 "Anhidrosis" xref: MSH:D007007 xref: SNOMEDCT_US:14662005 @@ -10029,15 +10051,15 @@ is_a: HP:0010765 ! Palmar hyperkeratosis id: HP:0000973 name: Cutis laxa def: "Wrinkled, redundant, inelastic and sagging skin." [HPO:probinson] -synonym: "Chalazoderma" EXACT [http://orcid.org/0000-0001-6908-9849, https://en.wikipedia.org/wiki/cutis_laxa] +synonym: "Chalazoderma" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849] synonym: "Cutaneous laxity" EXACT [] -synonym: "Dermatochalasia" EXACT [http://orcid.org/0000-0001-6908-9849, https://en.wikipedia.org/wiki/cutis_laxa] -synonym: "Dermatomegaly" EXACT [http://orcid.org/0000-0001-6908-9849, https://en.wikipedia.org/wiki/cutis_laxa] +synonym: "Dermatochalasia" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849] +synonym: "Dermatomegaly" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849] synonym: "Elastolysis" EXACT [] -synonym: "Generalized elastolysis" EXACT [http://orcid.org/0000-0001-6908-9849, https://en.wikipedia.org/wiki/cutis_laxa] -synonym: "Hanging skin" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Generalized elastolysis" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849] +synonym: "Hanging skin" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Hypoelastic skin" EXACT [] -synonym: "Inelastic skin" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Inelastic skin" EXACT [ORCID:0000-0001-6908-9849] synonym: "Lax skin" EXACT [] synonym: "Loose skin" EXACT [] synonym: "Skin laxity" EXACT [] @@ -10074,7 +10096,7 @@ def: "Abnormal excessive perspiration (sweating) despite the lack of appropriate comment: Ther terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. subset: hposlim_core synonym: "Diaphoresis" EXACT [] -synonym: "Excessive sweating" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased sweating" EXACT layperson [] synonym: "Profuse sweating" EXACT layperson [] synonym: "Sweating" EXACT layperson [] @@ -10124,7 +10146,7 @@ alt_id: HP:0007472 def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson] comment: An ecchymosis is defined as being larger than 1 cm in size. synonym: "Bruisability" EXACT [] -synonym: "Bruise easily" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Bruise easily" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Bruising susceptibility" EXACT layperson [] synonym: "Easy bruisability" EXACT layperson [] synonym: "Easy bruising" EXACT layperson [] @@ -10200,7 +10222,7 @@ name: Pruritus def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:probinson] subset: hposlim_core synonym: "Itching" EXACT layperson [] -synonym: "Itchy skin" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Itchy skin" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "pruritis" EXACT [] synonym: "Skin itching" EXACT layperson [] xref: MSH:D011537 @@ -10253,11 +10275,11 @@ id: HP:0000995 name: Melanocytic nevus def: "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger." [HPO:probinson] comment: Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. -synonym: "Beauty mark" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Beauty mark" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Melanocytic naevus" EXACT [] synonym: "Melanocytic nevi" EXACT [] synonym: "Nevocellular nevi" EXACT [] -synonym: "Noncancerous mole" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Noncancerous mole" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Pigmented naevi" EXACT [] synonym: "Pigmented nevi" EXACT [] xref: MSH:D009508 @@ -10287,7 +10309,7 @@ is_a: HP:0001480 ! Freckling id: HP:0000998 name: Hypertrichosis def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:probinson] -synonym: "Excessive hair growth" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Excessive hair growth" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006983 xref: SNOMEDCT_US:271607001 xref: SNOMEDCT_US:29966009 @@ -10299,7 +10321,7 @@ id: HP:0000999 name: Pyoderma def: "Any manifestation of a skin disease associated with the production of pus." [HPO:probinson] comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. -synonym: "Pus-filled lesion" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Pus-filled lesion" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D011711 xref: SNOMEDCT_US:70759006 xref: UMLS:C0034212 @@ -10313,7 +10335,7 @@ alt_id: HP:0200045 def: "An abnormality of the pigmentation of the skin." [HPO:probinson] subset: hposlim_core synonym: "Abnormal pigmentation" EXACT layperson [] -synonym: "Abnormal skin color" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal skin color" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormal skin pigmentation" EXACT layperson [HPO:skoehler] synonym: "Abnormality of pigmentation" EXACT layperson [] synonym: "Abnormality of skin pigmentation" EXACT layperson [] @@ -10326,7 +10348,7 @@ is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001001 name: Abnormality of subcutaneous fat tissue -synonym: "Abnormality of fatty tissue below the skin" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of fatty tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025813 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011354 ! Generalized abnormality of skin @@ -10343,7 +10365,7 @@ name: Multiple lentigines def: "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots." [HPO:probinson] comment: Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands. subset: hposlim_core -synonym: "Liver spots" NARROW layperson [orcid.org/0000-0001-6908-9849] +synonym: "Liver spots" NARROW layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:72100002 xref: UMLS:C0036651 xref: UMLS:C1328931 @@ -10354,7 +10376,7 @@ id: HP:0001004 name: Lymphedema alt_id: HP:0003605 def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system." [HPO:sdoelken] -synonym: "Lymphatic obstruction" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Lymphatic obstruction" EXACT [ORCID:0000-0001-6908-9849] synonym: "Lymphoedema" EXACT [] synonym: "Onset of lymphedema around puberty" EXACT [] xref: MSH:D008209 @@ -10412,7 +10434,7 @@ name: Telangiectasia alt_id: HP:0001079 def: "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [HPO:probinson] synonym: "Cutaneous telangiectasia" EXACT [] -synonym: "Spider veins" RELATED layperson [orcid.org/0000-0001-6908-9849] +synonym: "Spider veins" RELATED layperson [ORCID:0000-0001-6908-9849] synonym: "Telangiectases" EXACT [] xref: MSH:D013684 xref: SNOMEDCT_US:112641009 @@ -10485,7 +10507,7 @@ id: HP:0001015 name: Prominent superficial veins def: "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal." [] comment: See Figure 4 of PMID:24456199 -synonym: "Prominent veins" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Prominent veins" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1837785 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:0007394 ! Prominent superficial blood vessels @@ -10509,7 +10531,7 @@ is_a: HP:0040211 ! Abnormality of the skin of the palm id: HP:0001019 name: Erythroderma def: "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] -synonym: "Exfoliative dermititis" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Exfoliative dermititis" EXACT [ORCID:0000-0001-6908-9849] synonym: "Generalized erythroderma" EXACT [] synonym: "Generalized erythrodermia" EXACT [] xref: MSH:D003873 @@ -10525,7 +10547,7 @@ is_a: HP:0011123 ! Inflammatory abnormality of the skin id: HP:0001022 name: Albinism def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [HPO:sdoelken] -synonym: "Achromasia" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Achromasia" EXACT [ORCID:0000-0001-6908-9849] synonym: "Albinism" EXACT layperson [] xref: MSH:D000417 xref: SNOMEDCT_US:15890002 @@ -10576,7 +10598,7 @@ name: Hemangioma alt_id: HP:0007444 def: "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:probinson] synonym: "Hemangiomata" RELATED [] -synonym: "Strawberry mark" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Strawberry mark" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006391 xref: SNOMEDCT_US:2099007 xref: SNOMEDCT_US:253053003 @@ -10688,10 +10710,10 @@ name: Facial erythema alt_id: HP:0001068 def: "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] synonym: "Blushed cheeks" EXACT layperson [] -synonym: "Blushing" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Blushing" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Red face" EXACT layperson [] synonym: "Red in the face" EXACT layperson [] -synonym: "Rosacea" NARROW layperson [orcid.org/0000-0001-6908-9849] +synonym: "Rosacea" NARROW layperson [ORCID:0000-0001-6908-9849] synonym: "Ruddy face" RELATED layperson [] xref: MSH:D001821 xref: MSH:D012393 @@ -10722,7 +10744,7 @@ is_a: HP:3000036 ! Abnormality of head blood vessel [Term] id: HP:0001045 name: Vitiligo -synonym: "Blotchy loss of skin color" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Blotchy loss of skin color" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D014820 xref: SNOMEDCT_US:56727007 xref: UMLS:C0042900 @@ -10733,9 +10755,9 @@ id: HP:0001046 name: Intermittent jaundice def: "Jaundice that is sometimes present, sometimes not." [HPO:curators] subset: secondary_consequence -synonym: "Intermittent icterus" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Intermittent yellow skin" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Intermittent yellowing of skin" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Intermittent icterus" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Intermittent yellow skin" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Intermittent yellowing of skin" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025805 is_a: HP:0000952 ! Jaundice @@ -10744,10 +10766,10 @@ id: HP:0001047 name: Atopic dermatitis alt_id: HP:0007533 alt_id: HP:0007564 -def: "A chronic inflammatory genetically determined disease of the skin manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee." [HPO:probinson] +def: "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage." [HPO:probinson, PMID:27904186] comment: In infants, atopic dermatitis is known as infantile eczema. synonym: "Atopic dermatitis, chronic" EXACT [] -synonym: "Baby eczema" RELATED layperson [orcid.org/0000-0001-6908-9849] +synonym: "Baby eczema" RELATED layperson [ORCID:0000-0001-6908-9849] synonym: "Dermatitis, Atopic" EXACT [] xref: MSH:D003876 xref: SNOMEDCT_US:200775004 @@ -10761,7 +10783,7 @@ id: HP:0001048 name: Cavernous hemangioma def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:probinson] subset: hposlim_core -synonym: "Cavernous angioma" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Cavernous angioma" EXACT [ORCID:0000-0001-6908-9849] synonym: "Cavernous haemangioma" EXACT [] xref: MEDDRA:10055899 "Haemangioma cavernous" xref: MSH:D006392 @@ -10807,7 +10829,7 @@ name: Nevus flammeus def: "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken, PMID:22483320] comment: Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions. subset: hposlim_core -synonym: "Nevus simplex" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Nevus simplex" EXACT [ORCID:0000-0001-6908-9849] synonym: "port-wine stain" EXACT layperson [HPO:SKOEHLER] xref: MEDDRA:10067193 "Naevus flammeus" xref: MSH:D019339 @@ -10828,7 +10850,7 @@ is_a: HP:0011355 ! Localized skin lesion id: HP:0001054 name: Numerous nevi synonym: "Multiple pigmented nevi" EXACT [] -synonym: "Numerous moles" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Numerous moles" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1849677 is_a: HP:0003764 ! Nevus is_a: HP:0010566 ! Hamartoma @@ -10854,8 +10876,8 @@ name: Milia def: "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin." [HPO:probinson] comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. subset: hposlim_core -synonym: "Milk spot" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Millium cyst" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Milk spot" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Millium cyst" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:254679001 xref: SNOMEDCT_US:254683001 xref: SNOMEDCT_US:37719003 @@ -10867,9 +10889,9 @@ id: HP:0001057 name: Aplasia cutis congenita def: "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:probinson] subset: hposlim_core -synonym: "Congenital absence of skin" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, orcid.org/0000-0001-5208-3432] -synonym: "Congenital scars" BROAD [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, orcid.org/0000-0001-5208-3432] -synonym: "Cutis aplasia" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, orcid.org/0000-0001-5208-3432] +synonym: "Congenital absence of skin" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432] +synonym: "Congenital scars" BROAD [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432] +synonym: "Cutis aplasia" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432] xref: MEDDRA:10002963 "Aplasia cutis congenita" xref: MSH:D004476 xref: SNOMEDCT_US:254237003 @@ -10893,7 +10915,7 @@ id: HP:0001059 name: Pterygium def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:probinson] synonym: "Pterygia" RELATED [] -synonym: "Surfer's eye" NARROW layperson [orcid.org/0000-0001-6908-9849] +synonym: "Surfer's eye" NARROW layperson [ORCID:0000-0001-6908-9849] xref: MSH:D011625 xref: SNOMEDCT_US:77489003 xref: UMLS:C0033999 @@ -10925,7 +10947,7 @@ id: HP:0001062 name: Atypical nevus def: "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink." [HPO:probinson] comment: Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance. -synonym: "Atypical mole" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Atypical mole" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Dysplastic Nevus" RELATED [] xref: MSH:D004416 xref: SNOMEDCT_US:254818000 @@ -10985,7 +11007,7 @@ id: HP:0001069 name: Episodic hyperhidrosis def: "Intermittent episodes of abnormally increased perspiration." [HPO:probinson] synonym: "Hyperhidrosis, episodic" EXACT [] -synonym: "Sporadic excessive sweating" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Sporadic excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857171 is_a: HP:0000975 ! Hyperhidrosis @@ -10994,7 +11016,7 @@ id: HP:0001070 name: Mottled pigmentation alt_id: HP:0007584 def: "Patchy and irregular skin pigmentation." [HPO:probinson] -synonym: "Mottled skin coloring" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Mottled skin coloring" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Stippled pigmentation" RELATED [] xref: UMLS:C0860439 xref: UMLS:C4020879 @@ -11003,7 +11025,7 @@ is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum -synonym: "Fabry syndrome" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Fabry syndrome" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D000795 xref: SNOMEDCT_US:124464003 xref: SNOMEDCT_US:16652001 @@ -11091,7 +11113,7 @@ is_a: HP:0012437 ! Abnormal gallbladder morphology id: HP:0001082 name: Cholecystitis def: "The presence of inflammatory changes in the gallbladder." [HPO:probinson] -synonym: "Gallbladder inflammation" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Gallbladder inflammation" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D002764 xref: SNOMEDCT_US:76581006 xref: UMLS:C0008325 @@ -11107,8 +11129,6 @@ alt_id: HP:0008016 def: "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of lens position" EXACT [] -synonym: "Dislocated lens" EXACT layperson [] -synonym: "Dislocated lenses" EXACT layperson [] synonym: "Lens dislocation" EXACT [] xref: MSH:D004479 xref: MSH:D007906 @@ -11154,9 +11174,9 @@ is_a: HP:0012795 ! Abnormality of the optic disc [Term] id: HP:0001087 name: Congenital glaucoma -synonym: "Childhood glaucoma" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Infantile glaucoma" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Pediatric glaucoma" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Childhood glaucoma" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Infantile glaucoma" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Pediatric glaucoma" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D006871 xref: SNOMEDCT_US:204113001 xref: SNOMEDCT_US:413728006 @@ -11170,7 +11190,7 @@ def: "The presence of whitish spots in a ring-like arrangement at the periphery comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). subset: hposlim_core synonym: "Iris brushfield spots" EXACT [] -synonym: "Speckled iris" RELATED layperson [orcid.org/0000-0001-6908-9849] +synonym: "Speckled iris" RELATED layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:400960002 xref: UMLS:C1303007 xref: UMLS:C4280604 @@ -11180,7 +11200,7 @@ is_a: HP:0008034 ! Abnormal iris pigmentation id: HP:0001089 name: Iris atrophy def: "Loss of iris tissue (atrophy)" [HPO:probinson] -synonym: "Iris degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Iris degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95709007 xref: UMLS:C0423319 is_a: HP:0000525 ! Abnormality iris morphology @@ -11191,11 +11211,11 @@ name: Abnormally large globe alt_id: HP:0200093 def: "Diffusely large eye (with megalocornea) without glaucoma." [HPO:probinson] comment: Note that Increased size of palpebral fissues is not a synonym of this term. -synonym: "Increased size of eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of palpebral fissures" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Large eyeballs" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased size of eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased size of palpebral fissures" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Large eyeballs" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Large eyes" EXACT layperson [] -synonym: "Large of palpebral fissures" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Large of palpebral fissures" RELATED [ORCID:0000-0001-5889-4463] synonym: "Megalophthalmos" EXACT [] xref: SNOMEDCT_US:246920008 xref: UMLS:C0423221 @@ -11266,7 +11286,7 @@ name: Keratoconjunctivitis sicca def: "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:probinson] subset: hposlim_core synonym: "Dry eye syndrome" RELATED layperson [] -synonym: "Dry eyes" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Dry eyes" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Keratitis sicca" EXACT [] synonym: "Xerophthalmia" EXACT [] xref: MSH:C531719 @@ -11301,18 +11321,18 @@ id: HP:0001100 name: Heterochromia iridis def: "Heterochromia iridis is a difference in the color of the iris in the two eyes." [HPO:probinson] subset: hposlim_core -synonym: "Different colored eyes" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Different colored eyes" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Heterochromia irides" EXACT [] xref: MSH:C538115 xref: SNOMEDCT_US:247033008 xref: UMLS:C0423318 -is_a: HP:0008034 ! Abnormal iris pigmentation +is_a: HP:0200064 ! Asymmetry of iris pigmentation [Term] id: HP:0001101 name: Iritis def: "Inflammation of the iris." [HPO:probinson] -synonym: "Inflammation of iris" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007500 xref: SNOMEDCT_US:65074000 xref: UMLS:C0022081 @@ -11321,7 +11341,7 @@ is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0001102 name: Angioid streaks of the fundus -def: "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic." [HPO:probinson] {comment="UManchester:psergouniotis"} +def: "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic." [HPO:probinson, ORCID:0000-0003-0986-4123] comment: Angioid streaks result from breaks in a weakened Bruch's membrane. synonym: "Angioid streaks" EXACT [] synonym: "Angioid streaks of the retina" EXACT [] @@ -11355,7 +11375,7 @@ is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula [Term] id: HP:0001105 name: Retinal atrophy -def: "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [UManchester:psergouniotis] +def: "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [ORCID:0000-0003-0986-4123] xref: MSH:D012162 xref: SNOMEDCT_US:405722004 xref: SNOMEDCT_US:95695004 @@ -11367,13 +11387,13 @@ is_a: HP:0000546 ! Retinal degeneration id: HP:0001106 name: Periorbital hyperpigmentation def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [HPO:probinson] -synonym: "Dark circles around the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dark circles under the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Darkening around the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Idiopathic cutaneous hyperchromia at the orbital region" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Infraorbital pigmentation" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Periorbital melanosis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Pigmentation around the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dark circles around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Dark circles under the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Darkening around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Idiopathic cutaneous hyperchromia at the orbital region" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Infraorbital pigmentation" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Periorbital melanosis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Pigmentation around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844606 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001000 ! Abnormality of skin pigmentation @@ -11385,7 +11405,7 @@ alt_id: HP:0007745 alt_id: HP:0007837 def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina." [HPO:probinson] comment: Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. -synonym: "Absent pigmentation in the eye" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent pigmentation in the eye" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Albinism, Ocular" EXACT [] xref: MSH:D016117 xref: SNOMEDCT_US:26399002 @@ -11399,7 +11419,7 @@ name: Leber optic atrophy alt_id: HP:0001086 def: "Degeneration of retinal ganglion cells and their axons." [HPO:probinson] synonym: "Leber optic atrophy features" EXACT [] -synonym: "Leber optic degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Leber optic degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D029242 xref: SNOMEDCT_US:58610003 xref: UMLS:C0917796 @@ -11415,14 +11435,14 @@ replaced_by: HP:0000518 id: HP:0001114 name: Xanthelasma def: "The presence of xanthomata in the skin of the eyelid." [HPO:curators] -synonym: "Fatty deposits in skin around the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Fatty deposits on eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Xanthelasma of eyelid" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Xanthelasma of periocular region" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Xanthelasma palpebrarum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Xanthoma" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Xanthoma of eyelid" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Xanthoma of periocular region" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Fatty deposits in skin around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Fatty deposits on eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Xanthelasma of eyelid" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Xanthelasma of periocular region" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Xanthelasma palpebrarum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Xanthoma" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Xanthoma of eyelid" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Xanthoma of periocular region" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D014973 xref: SNOMEDCT_US:63103006 xref: SNOMEDCT_US:6400008 @@ -11455,7 +11475,7 @@ id: HP:0001117 name: Sudden loss of visual acuity def: "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy." [HPO:probinson] synonym: "Sudden central visual loss" RELATED [] -synonym: "Sudden decrease in vision" BROAD layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Sudden decrease in vision" BROAD layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025803 xref: UMLS:C4072828 xref: UMLS:C4280600 @@ -11484,19 +11504,18 @@ id: HP:0001120 name: Abnormality of corneal size def: "Any abnormality of the size or morphology of the cornea." [HPO:curators] xref: UMLS:C4025802 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0001122 name: obsolete Aplasia/Hypoplasia of the choroid is_obsolete: true -created_by: peter -creation_date: 2008-04-02T03:23:00Z +consider: HP:0000610 [Term] id: HP:0001123 name: Visual field defect -synonym: "Partial loss of field of vision" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Partial loss of field of vision" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Visual field defects" EXACT [HPO:skoehler] xref: SNOMEDCT_US:12184005 xref: UMLS:C3887875 @@ -11530,8 +11549,8 @@ id: HP:0001128 name: Trichiasis def: "Inversion and rubbing of the eyelashes against the globe of the eye." [HPO:curators] comment: Eyelash inversion. -synonym: "Ingrown eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Introversion of eyelashes" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Ingrown eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Introversion of eyelashes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Trichiasis of eyelid eyelashes" EXACT [] xref: MSH:D058457 xref: SNOMEDCT_US:60332004 @@ -11541,7 +11560,7 @@ is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0001129 name: Large central visual field defect -synonym: "Large central loss of field of vision" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Large central loss of field of vision" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025800 is_a: HP:0001123 ! Visual field defect @@ -11553,14 +11572,14 @@ def: "An abnormality of the cornea that is characterized by opacity of one or pa subset: hposlim_core xref: SNOMEDCT_US:5587004 xref: UMLS:C0010036 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0001132 name: Lens subluxation def: "Partial dislocation of the lens of the eye." [HPO:probinson] comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). -synonym: "Partially dislocated lens" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Partially dislocated lens" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007906 xref: SNOMEDCT_US:65814009 xref: UMLS:C0023316 @@ -11575,7 +11594,7 @@ synonym: "Concentric narrowing of visual field" EXACT [] synonym: "Constricted visual field" EXACT [] synonym: "Constricted visual fields" EXACT [HPO:skoehler] synonym: "Depressed visual field" EXACT [] -synonym: "Limited peripheral vision" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Limited peripheral vision" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Reduced visual fields" EXACT [] synonym: "Visual field constriction" EXACT [] xref: SNOMEDCT_US:1151008 @@ -11612,9 +11631,9 @@ is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0001137 name: Alternating esotropia -def: "Esotropia in which either eye may be used for fixation." [UManchester:psergouniotis] +def: "Esotropia in which either eye may be used for fixation." [ORCID:0000-0003-0986-4123] comment: Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time). -synonym: "Alternating cross eyes" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Alternating cross eyes" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:39837002 xref: UMLS:C0152205 is_a: HP:0000565 ! Esotropia @@ -11623,7 +11642,7 @@ is_a: HP:0000565 ! Esotropia id: HP:0001138 name: Optic neuropathy alt_id: HP:0007806 -synonym: "Damaged optic nerve" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Damaged optic nerve" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:82108004 xref: UMLS:C3887709 is_a: HP:0000587 ! Abnormality of the optic nerve @@ -11641,13 +11660,13 @@ id: HP:0001140 name: Epibulbar dermoid def: "An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:probinson] subset: hposlim_core -synonym: "Benign eye tumor" BROAD layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Benign eye tumor" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Epibulbar dermoids" RELATED [] xref: SNOMEDCT_US:5131000119107 xref: SNOMEDCT_US:92097004 xref: UMLS:C0496897 xref: UMLS:C1867616 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0000591 ! Abnormal sclera morphology @@ -11679,7 +11698,7 @@ is_a: HP:0011526 ! Abnormality of lens shape id: HP:0001144 name: Orbital cyst def: "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [HPO:probinson] -synonym: "Cyst of eye socket" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cyst of eye socket" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Orbital cysts" EXACT [] xref: SNOMEDCT_US:31021007 xref: UMLS:C0155285 @@ -11689,6 +11708,7 @@ is_a: HP:0000606 ! Abnormality of the periorbital region id: HP:0001145 name: obsolete Chorioretinopathy is_obsolete: true +consider: HP:0000532 [Term] id: HP:0001146 @@ -11710,7 +11730,7 @@ is_a: HP:0030506 ! Yellow/white lesions of the retina id: HP:0001149 name: Lattice corneal dystrophy def: "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [HPO:curators] -synonym: "Biber haab dimmer dystrophy" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Biber haab dimmer dystrophy" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D028227 xref: SNOMEDCT_US:1192004 xref: SNOMEDCT_US:361199007 @@ -11721,6 +11741,7 @@ is_a: HP:0001131 ! Corneal dystrophy id: HP:0001150 name: obsolete Choroidal sclerosis is_obsolete: true +consider: HP:0000532 [Term] id: HP:0001151 @@ -11746,7 +11767,7 @@ is_a: HP:0000617 ! Abnormality of ocular smooth pursuit id: HP:0001153 name: Septate vagina def: "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [HPO:curators] -synonym: "Double vagina" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Double vagina" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:47054003 xref: UMLS:C0266411 is_a: HP:0000142 ! Abnormality of the vagina @@ -11791,7 +11812,8 @@ alt_id: HP:0001206 alt_id: HP:0001236 def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as \"symphalangism\"." [HPO:probinson] comment: Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. -synonym: "Webbed fingers or toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed fingers or toes" EXACT layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:4174 xref: MSH:D013576 xref: SNOMEDCT_US:373413006 xref: UMLS:C0039075 @@ -11802,10 +11824,10 @@ id: HP:0001161 name: Hand polydactyly def: "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [HPO:probinson] subset: hposlim_core -synonym: "Extra finger" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Extra finger" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Finger polydactyly" EXACT [] synonym: "Polydactyly of the hand" EXACT [] -synonym: "Supernumerary finger" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Supernumerary finger" EXACT [ORCID:0000-0001-6908-9849] xref: MEDDRA:10036064 "Polydactyly of fingers" xref: SNOMEDCT_US:81793007 xref: UMLS:C0158733 @@ -11820,9 +11842,9 @@ alt_id: HP:0005763 alt_id: HP:0009984 def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [HPO:sdoelken] subset: hposlim_core -synonym: "Extra little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Extra pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Extra pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Extra pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Extra pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Polydactyly affecting the 5th finger" EXACT [] synonym: "Polydactyly, postaxial" EXACT [] synonym: "Postaxial polydactyly of fingers" EXACT [] @@ -11838,7 +11860,7 @@ is_a: HP:0100259 ! Postaxial polydactyly id: HP:0001163 name: Abnormality of the metacarpal bones def: "An abnormality of the metacarpal bones." [HPO:probinson] -synonym: "Abnormality of the long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Anomaly of the metacarpal bones" EXACT [] xref: UMLS:C4021785 is_a: HP:0001155 ! Abnormality of the hand @@ -11935,10 +11957,10 @@ alt_id: HP:0005634 alt_id: HP:0006182 alt_id: HP:0009604 def: "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:probinson] -synonym: "Extra thumb" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Extra thumb" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Polydactyly affecting the thumb" EXACT [] synonym: "Preaxial polydactyly of hands" EXACT [] -synonym: "Supernumerary thumb" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Supernumerary thumb" EXACT [ORCID:0000-0001-6908-9849] synonym: "thumb polydactyly" EXACT [] xref: MSH:C536332 xref: SNOMEDCT_US:205135003 @@ -11972,7 +11994,7 @@ alt_id: HP:0005646 def: "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [pmid:19125433] comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. synonym: "Adducted thumbs" EXACT [] -synonym: "Inward turned thumb" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Inward turned thumb" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3554617 is_a: HP:0001172 ! Abnormality of the thumb @@ -12028,7 +12050,7 @@ name: Abnormality of the carpal bones def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:probinson] subset: hposlim_core synonym: "Abnormal carpal bones" EXACT [] -synonym: "Abnormal wrist bones" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Anomalous carpal bones" EXACT [] synonym: "Carpal bone anomalies" EXACT [] xref: UMLS:C1840535 @@ -12107,7 +12129,7 @@ alt_id: HP:0006116 alt_id: HP:0009841 alt_id: HP:0009871 def: "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [HPO:sdoelken] -synonym: "Fused outermost bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT [] synonym: "Symphalangism, distal" EXACT [] synonym: "Synostosis of distal phalanges" EXACT [] @@ -12155,7 +12177,7 @@ synonym: "Carpal delayed ossification" EXACT [] synonym: "Delayed carpal bone age" EXACT [] synonym: "Delayed carpal ossification" EXACT [] synonym: "Delayed maturation of carpal bones" EXACT [] -synonym: "Delayed maturation of wrist bone" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed maturation of wrist bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1841684 xref: UMLS:C4280599 is_a: HP:0006257 ! Abnormality of carpal bone ossification @@ -12192,7 +12214,7 @@ is_a: HP:0012785 ! Flexion contracture of finger id: HP:0001222 name: Spatulate thumbs def: "Spoon-shaped, broad thumbs." [HPO:curators] -synonym: "Spoon shaped thumbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Spoon shaped thumbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0241395 is_a: HP:0011304 ! Broad thumb @@ -12235,7 +12257,7 @@ alt_id: HP:0006024 alt_id: HP:0006065 def: "Abnormally broad metacarpal bones." [HPO:probinson] subset: hposlim_core -synonym: "Wide long bones of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wide long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide metacarpals" EXACT [] xref: UMLS:C1842229 is_a: HP:0005916 ! Abnormal metacarpal morphology @@ -12266,7 +12288,7 @@ alt_id: HP:0006122 def: "Syndactyly with fusion of fingers two and three." [HPO:sdoelken] synonym: "Syndactyly 2nd-3rd fingers" EXACT [] synonym: "Syndactyly, 2-3 finger" EXACT [] -synonym: "Webbed 2nd-3rd fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 2nd-3rd fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205139009 xref: UMLS:C0432055 is_a: HP:0006101 ! Finger syndactyly @@ -12337,7 +12359,7 @@ is_a: HP:0001227 ! Abnormality of the thenar eminence [Term] id: HP:0001248 name: Short tubular bones of the hand -def: "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals." [] {comment="HPO:probinson"} +def: "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals." [HPO:probinson] synonym: "Shortened short tubular bones of the hand" EXACT [] xref: UMLS:C4025795 is_a: HP:0001155 ! Abnormality of the hand @@ -12447,6 +12469,7 @@ id: HP:0001252 name: Muscular hypotonia alt_id: HP:0001318 def: "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] +synonym: "Low or weak muscle tone" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Muscle hypotonia" EXACT [] xref: MSH:D009123 xref: SNOMEDCT_US:398151007 @@ -12689,7 +12712,7 @@ name: Polyneuropathy alt_id: HP:0006941 alt_id: HP:0007287 def: "A generalized disorder of peripheral nerves." [HPO:curators] -synonym: "Peripheral nerve disease" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Peripheral nerve disease" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010523 xref: MSH:D011115 xref: SNOMEDCT_US:302226006 @@ -12708,7 +12731,7 @@ alt_id: HP:0007072 alt_id: HP:0007203 def: "Atrophy (wasting) of the cerebellum." [HPO:probinson, pmid:12169461] comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. -synonym: "Degeneration of cerebellum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Degeneration of cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Infratentorial atrophy" RELATED [] xref: SNOMEDCT_US:95646004 xref: UMLS:C0262404 @@ -12738,6 +12761,7 @@ synonym: "Agenesis of the corpus callosum" EXACT [] synonym: "Callosal agenesis" EXACT [] synonym: "Corpus callosum agenesis" EXACT [] synonym: "Dysplastic or absent corpus callosum" EXACT [] +xref: Fyler:4321 xref: MSH:D061085 xref: SNOMEDCT_US:5102002 xref: UMLS:C0175754 @@ -12855,7 +12879,7 @@ alt_id: HP:0006953 def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:probinson] comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. synonym: "Abnormal gait" EXACT layperson [] -synonym: "Abnormal walk" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal walk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Gait abnormalities" EXACT [] synonym: "Gait difficulties" EXACT [] synonym: "Gait disturbances" EXACT [] @@ -12991,13 +13015,13 @@ id: HP:0001308 name: Tongue fasciculations alt_id: HP:0003727 def: "Fasciculations or fibrillation affecting the tongue muscle." [HPO:probinson] -synonym: "Lingual fasciculations" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lingual fibrillations" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lingual twitching" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Lingual fasciculations" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lingual fibrillations" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lingual twitching" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tongue fasciculation" EXACT [] synonym: "Tongue fasciculations/fibrillations" EXACT [] synonym: "Tongue twitching" EXACT layperson [] -synonym: "Twitching of the tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Twitching of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005207 xref: SNOMEDCT_US:249878001 xref: UMLS:C0239548 @@ -13072,7 +13096,7 @@ alt_id: HP:0008976 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] synonym: "Hypotonia, in neonatal onset" EXACT [] synonym: "Hypotonia, neonatal" EXACT [] -synonym: "Low muscle tone, in neonatal onset" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low muscle tone, in neonatal onset" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009123 xref: SNOMEDCT_US:205294008 xref: UMLS:C2267233 @@ -13100,8 +13124,8 @@ comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cereb synonym: "Congenital cerebellar hypoplasia" EXACT [] synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] -synonym: "Small cerebellum" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped cerebellum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C562568 xref: SNOMEDCT_US:16026008 xref: UMLS:C0266470 @@ -13133,7 +13157,7 @@ is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0001325 name: Hypoglycemic coma -synonym: "Coma caused by low blood sugar" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Coma caused by low blood sugar" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Coma, hypoglycemic" EXACT [] synonym: "Hypoglycaemic coma" EXACT [] synonym: "Loss of consciousness due to hypoglycemia" EXACT [] @@ -13293,7 +13317,7 @@ name: Cerebral hemorrhage alt_id: HP:0002137 def: "Hemorrhage into the parenchyma of the brain." [HPO:gcarletti] comment: A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. -synonym: "Hemorrhagic stroke" RELATED [http://orcid.org/0000-0001-6908-9849] +synonym: "Hemorrhagic stroke" RELATED [ORCID:0000-0001-6908-9849] synonym: "Intracerebral hemorrhage" EXACT [] xref: MSH:D002543 xref: MSH:D020300 @@ -13325,7 +13349,7 @@ synonym: "Lack of language development" EXACT layperson [] synonym: "Lack of speech" EXACT layperson [] synonym: "No speech development" EXACT layperson [] synonym: "No speech or language development" EXACT layperson [] -synonym: "Nonverbal" EXACT layperson [orcid.org/0000-0001-9114-8737] +synonym: "Nonverbal" EXACT layperson [ORCID:0000-0001-9114-8737] xref: UMLS:C0746940 xref: UMLS:C1854882 is_a: HP:0000750 ! Delayed speech and language development @@ -13404,20 +13428,20 @@ alt_id: HP:0001121 def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [pmid:19125436] comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. subset: hposlim_core -synonym: "Asymmetry of the posterior cranium" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Asymmetry of the posterior head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Asymmetry of the posterior skull" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformational plagiocephaly" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Asymmetry of the posterior cranium" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Asymmetry of the posterior head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Asymmetry of the posterior skull" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformational plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] synonym: "Flat head" BROAD [HPO:skoehler] -synonym: "Flat head syndrome" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of cranial vault" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of head" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of skull" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Positional plagiocephaly" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Rhomboid shaped cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Rhomboid shaped head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Rhomboid shaped skull" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Flat head syndrome" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Flattening of cranial vault" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Flattening of cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Flattening of head" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Flattening of skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Positional plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Rhomboid shaped cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Rhomboid shaped head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Rhomboid shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D049068 xref: MSH:D059041 xref: SNOMEDCT_US:21850008 @@ -13437,6 +13461,7 @@ alt_id: HP:0009807 def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [HPO:probinson] comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. synonym: "Single brain ventricle" EXACT [] +xref: Fyler:4338 xref: MSH:D016142 xref: SNOMEDCT_US:30915001 xref: UMLS:C0079541 @@ -13453,8 +13478,8 @@ is_a: HP:0000639 ! Nystagmus id: HP:0001362 name: Calvarial skull defect def: "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:probinson] -synonym: "Calvarial defect" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Cranial defect" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Calvarial defect" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Cranial defect" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Skull defect" EXACT layperson [] xref: UMLS:C4025787 xref: UMLS:C4280595 @@ -13473,14 +13498,15 @@ alt_id: HP:0008492 def: "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:probinson] comment: Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. subset: hposlim_core -synonym: "Cranial suture synostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cranial suture synostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Craniostenosis" RELATED [] synonym: "Craniosyostosis" EXACT [] -synonym: "Deformity of the skull" BROAD layperson [https://en.wikipedia.org/wiki/Craniosynostosis, orcid.org/0000-0002-9353-5498] +synonym: "Deformity of the skull" BROAD layperson [https://en.wikipedia.org/wiki/Craniosynostosis, ORCID:0000-0002-9353-5498] synonym: "Early fusion of cranial sutures" EXACT [] synonym: "Premature closure of cranial sutures" EXACT [] synonym: "Premature fontanel closure" EXACT [] -synonym: "Premature suture closure" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Premature suture closure" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:4336 xref: MSH:D003398 xref: SNOMEDCT_US:57219006 xref: UMLS:C0010278 @@ -13492,7 +13518,7 @@ is_a: HP:0011329 ! Abnormality of cranial sutures id: HP:0001367 name: Abnormal joint morphology def: "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." [HPO:probinson] -synonym: "Abnormal shape of joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of joints" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the joints" EXACT layperson [] synonym: "Anomaly of the joints" EXACT layperson [] synonym: "Joint disease" RELATED layperson [] @@ -13507,6 +13533,7 @@ id: HP:0001369 name: Arthritis def: "Inflammation of a joint." [HPO:probinson] synonym: "Arthritis" EXACT layperson [] +synonym: "Joint inflammation" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D001168 xref: SNOMEDCT_US:3723001 xref: UMLS:C0003864 @@ -13574,7 +13601,7 @@ synonym: "Congenital dislocation of the hip" EXACT [] synonym: "Congenital dislocation of the hips" EXACT [] synonym: "Congenital hip anomaly" EXACT [] synonym: "Congenital hip dislocations" EXACT [] -synonym: "Dislocated hip since birth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dislocated hip since birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006618 xref: SNOMEDCT_US:48334007 xref: SNOMEDCT_US:52781008 @@ -13728,7 +13755,7 @@ synonym: "Liver cirrhosis" RELATED [HPO:skoehler] xref: MSH:D008103 xref: SNOMEDCT_US:19943007 xref: UMLS:C0023890 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0001395 @@ -13737,7 +13764,7 @@ def: "The presence of excessive fibrous connective tissue in the liver. Fibrosis xref: MSH:D008103 xref: SNOMEDCT_US:62484002 xref: UMLS:C0239946 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0001396 @@ -13818,7 +13845,7 @@ is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001404 name: Hepatocellular necrosis -synonym: "Death of liver cells" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Death of liver cells" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hepatocellular loss" EXACT [] xref: UMLS:C1855038 is_a: HP:0002605 ! Hepatic necrosis @@ -13934,7 +13961,7 @@ is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001421 name: Abnormality of the musculature of the hand -synonym: "Abnormal hand muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal hand muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025786 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs @@ -13994,7 +14021,7 @@ is_a: HP:0000005 ! Mode of inheritance id: HP:0001430 name: Abnormality of the calf musculature alt_id: HP:0004300 -synonym: "Abnormal calf muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of calf musculature" EXACT [] xref: UMLS:C4021779 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs @@ -14005,12 +14032,12 @@ creation_date: 2008-04-07T10:18:00Z id: HP:0001433 name: Hepatosplenomegaly def: "Simultaneous enlargement of the liver and spleen." [HPO:probinson] -synonym: "Enlarged liver and spleen" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged liver and spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:36760000 xref: UMLS:C0019214 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0003271 ! Visceromegaly is_a: HP:0025408 ! Abnormal spleen morphology +is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2008-02-20T10:51:00Z @@ -14028,7 +14055,7 @@ creation_date: 2008-04-07T10:19:00Z id: HP:0001436 name: Abnormality of the foot musculature def: "An anomaly of the musculature of foot." [HPO:probinson] -synonym: "Abnormal foot muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal foot muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025785 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter @@ -14059,7 +14086,7 @@ name: Metatarsal synostosis alt_id: HP:0004705 alt_id: HP:0008098 synonym: "Fusion of metatarsals" EXACT [] -synonym: "Fusion of the long bones of the feet" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion of the long bones of the feet" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving metatarsal bones" EXACT [] xref: UMLS:C1862697 is_a: HP:0001832 ! Abnormality of the metatarsal bones @@ -14071,7 +14098,7 @@ creation_date: 2008-04-17T02:36:00Z [Term] id: HP:0001441 name: Abnormality of the musculature of the thigh -synonym: "Abnormal thigh muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025783 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter @@ -14087,7 +14114,7 @@ is_a: HP:0001428 ! Somatic mutation [Term] id: HP:0001443 name: Abnormality of the gluteal musculature -synonym: "Abnormality of glutes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of glutes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025782 is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter @@ -14111,7 +14138,7 @@ creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001446 name: Abnormality of the musculature of the upper limbs -synonym: "Abnormal upper limb muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025779 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs @@ -14121,7 +14148,7 @@ creation_date: 2008-04-07T10:40:00Z [Term] id: HP:0001449 name: Duplication of metatarsal bones -synonym: "Duplication of long bones of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of long bones of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025778 is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0009136 ! Duplication involving bones of the feet @@ -14164,7 +14191,7 @@ creation_date: 2008-04-07T10:42:00Z id: HP:0001459 name: 1-3 toe syndactyly def: "Syndactyly with fusion of toes one to three." [HPO:sdoelken] -synonym: "Webbed 1st-3rd toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 1st-3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025774 is_a: HP:0001770 ! Toe syndactyly @@ -14172,8 +14199,8 @@ is_a: HP:0001770 ! Toe syndactyly id: HP:0001460 name: Aplasia/Hypoplasia involving the skeletal musculature def: "Absence or underdevelopment of the musculature." [HPO:curators] -synonym: "Absent/small skeletal muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped skeletal muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small skeletal muscles" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped skeletal muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025773 is_a: HP:0030236 ! Abnormality of muscle size created_by: peter @@ -14183,8 +14210,8 @@ creation_date: 2008-04-07T10:46:00Z id: HP:0001464 name: Aplasia/Hypoplasia involving the shoulder musculature def: "Absence or underdevelopment of the muscles of the shoulder." [HPO:curators] -synonym: "Absent/small shoulder muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped shoulder muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025772 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs @@ -14194,8 +14221,8 @@ creation_date: 2008-04-07T10:49:00Z [Term] id: HP:0001465 name: Amyotrophy involving the shoulder musculature -synonym: "Shoulder muscle degeneration" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Wasting of shoulder muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shoulder muscle degeneration" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Wasting of shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025771 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature created_by: peter @@ -14211,8 +14238,8 @@ is_a: HP:0000005 ! Mode of inheritance id: HP:0001467 name: Aplasia/Hypoplasia involving the musculature of the upper limbs def: "Absence or underdevelopment of the musculature of the upper limbs." [HPO:curators] -synonym: "Absent/small upper limb muscles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped upper limb muscles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025770 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities @@ -14223,8 +14250,8 @@ creation_date: 2008-04-07T10:51:00Z id: HP:0001468 name: Aplasia/Hypoplasia involving the musculature of the upper arm def: "Absence or underdevelopment of the muscles of the upper arm." [HPO:curators] -synonym: "Absent/small upper arm muscles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped upper arm muscles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025769 is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs @@ -14248,8 +14275,8 @@ is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001471 name: Aplasia/Hypoplasia of the musculature of the pelvis -synonym: "Absent/small pelvis muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pelvis muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small pelvis muscles" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pelvis muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025766 is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter @@ -14295,12 +14322,12 @@ name: Delayed closure of the anterior fontanelle def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson] synonym: "Delayed closure anterior fontanel" EXACT [] synonym: "Delayed closure of anterior fontanelle" EXACT [] -synonym: "Delayed closure of the bregma sutures" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Delayed closure of the soft spot on the skull" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Late closure of anterior fontanelle" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Delayed closure of the bregma sutures" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Delayed closure of the soft spot on the skull" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Late closure of anterior fontanelle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Late closure of large anterior fontanel" EXACT [] -synonym: "Late closure of soft spot on the skull" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Late closure of the bregma sutures" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Late closure of soft spot on the skull" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Late closure of the bregma sutures" EXACT [ORCID:0000-0001-5889-4463] synonym: "Persistent anterior fontanelle" EXACT [] xref: SNOMEDCT_US:295091000119100 xref: UMLS:C3840083 @@ -14334,8 +14361,9 @@ alt_id: HP:0005903 def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [HPO:probinson] comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. subset: hposlim_core +synonym: "Firm lump under the skin" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Multiple, subcutaneous nodules" RELATED [] -synonym: "Nodule below the skin" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Nodule below the skin" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Subcutaneous nodules" RELATED [] xref: SNOMEDCT_US:95325000 xref: UMLS:C0151811 @@ -14360,14 +14388,14 @@ replaced_by: HP:0007894 [Term] id: HP:0001488 name: Bilateral ptosis -synonym: "Drooping of both upper eyelids" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Drooping of both upper eyelids" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865916 is_a: HP:0000508 ! Ptosis [Term] id: HP:0001489 name: Posterior vitreous detachment -def: "Separation of the vitreous humor from the retina." [] {comment="HPO:probinson", comment="PMID:24376338"} +def: "Separation of the vitreous humor from the retina." [HPO:probinson, PMID:24376338] comment: The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. synonym: "Vitreous detachment" EXACT [] xref: MSH:D020255 @@ -14382,7 +14410,7 @@ def: "Congenital non-progressive ophthalmoplegia with multiple extraocular muscl subset: hposlim_core synonym: "CFEOM" EXACT HP:0045077 [HPO:skoehler] synonym: "Congenital fibrosis of the extraocular muscles" EXACT [] -synonym: "Congenital ophthalmoplegia" EXACT [http://www.omim.org/entry/135700, orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Congenital ophthalmoplegia" EXACT [http://www.omim.org/entry/135700, ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:C580012 xref: SNOMEDCT_US:400946004 xref: UMLS:C1302995 @@ -14433,7 +14461,7 @@ synonym: "Hypoplasia of carpal bones" EXACT [] synonym: "Hypoplastic carpal bones" EXACT [] synonym: "Small carpal bones" EXACT layperson [] synonym: "Small carpals" EXACT layperson [] -synonym: "Small wrist bones" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Small wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863749 xref: UMLS:C4280594 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones @@ -14454,7 +14482,7 @@ is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001501 name: 6 metacarpals -synonym: "6 long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "6 long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861360 is_a: HP:0005917 ! Supernumerary metacarpal bones @@ -14485,11 +14513,11 @@ alt_id: HP:0008878 alt_id: HP:0008916 def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). -synonym: "Faltering weight" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Faltering weight" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Poor weight gain" RELATED layperson [] synonym: "Postnatal failure to thrive" EXACT [] synonym: "Undergrowth" BROAD layperson [] -synonym: "Weight faltering" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Weight faltering" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:36440009 xref: SNOMEDCT_US:432788009 xref: UMLS:C0231246 @@ -14563,6 +14591,7 @@ is_a: HP:0001510 ! Growth delay id: HP:0001513 name: Obesity def: "Accumulation of substantial excess body fat." [] +synonym: "Having too much body fat" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Obesity" EXACT layperson [] xref: MSH:D009765 xref: SNOMEDCT_US:414915002 @@ -14640,9 +14669,9 @@ id: HP:0001525 name: Severe failure to thrive alt_id: HP:0008876 synonym: "Marked failure to thrive" EXACT [] -synonym: "Severe faltering weight" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Severe faltering weight" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Severe postnatal failure to thrive" EXACT [] -synonym: "Severe weight faltering" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Severe weight faltering" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855514 is_a: HP:0001508 ! Failure to thrive @@ -14677,8 +14706,8 @@ name: Failure to thrive in infancy alt_id: HP:0008863 alt_id: HP:0008925 synonym: "Failure to thrive in first year of life" EXACT [] -synonym: "Faltering weight in infancy" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Weight faltering in infancy" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Faltering weight in infancy" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Weight faltering in infancy" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867873 is_a: HP:0001508 ! Failure to thrive @@ -14690,6 +14719,7 @@ def: "Asthenic habitus refers to a slender build with long limbs, an angular pro comment: Slender, long-limbed habitus. synonym: "Asthenic habitus" EXACT [] synonym: "Slender build" EXACT layperson [] +synonym: "Thin build" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1850573 is_a: HP:0000098 ! Tall stature is_a: HP:0004325 ! Decreased body weight @@ -14700,6 +14730,7 @@ name: Umbilical hernia def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:probinson] subset: hposlim_core synonym: "Umbilical hernias" EXACT [] +xref: Fyler:4445 xref: SNOMEDCT_US:396347007 xref: UMLS:C0019322 is_a: HP:0001551 ! Abnormality of the umbilicus @@ -14719,6 +14750,7 @@ name: Omphalocele def: "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [HPO:probinson] subset: hposlim_core synonym: "Omphalocoele" EXACT [] +xref: Fyler:4404 xref: MEDDRA:10030309 "Omphalocoele" xref: MSH:D006554 xref: SNOMEDCT_US:18735004 @@ -14762,8 +14794,8 @@ is_a: HP:0010866 ! Abdominal wall defect id: HP:0001544 name: Prominent umbilicus def: "Abnormally prominent umbilicus (belly button)." [HPO:curators] -synonym: "Prominent belly button" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Prominent navel" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Prominent belly button" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Prominent navel" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837795 is_a: HP:0001551 ! Abnormality of the umbilicus @@ -14810,8 +14842,8 @@ id: HP:0001551 name: Abnormality of the umbilicus def: "Abnormality of the umbilicus." [HPO:probinson] comment: The umbilicus is also known as the belly button or the navel. -synonym: "Abnormal belly button" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormal navel" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal belly button" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormal navel" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal umbilicus" EXACT [] xref: UMLS:C1849338 is_a: HP:0004298 ! Abnormality of the abdominal wall @@ -14919,10 +14951,10 @@ alt_id: HP:0006324 def: "Increased distance between the maxillary central permanent incisor tooth." [HPO:ibailleulforestier] synonym: "Central incisor gap" BROAD layperson [] synonym: "Diastasis of the central incisors" EXACT [] -synonym: "Diastema between maxillary central incisors" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Diastema between upper front teeth" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Diastema between upper incisors" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Gap between upper front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Diastema between maxillary central incisors" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Diastema between upper front teeth" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Diastema between upper incisors" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Gap between upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Separated superior central incisors" EXACT [] synonym: "Wide gap between upper central incisors" EXACT layperson [] synonym: "Wide upper central incisors" EXACT [] @@ -14937,9 +14969,9 @@ id: HP:0001571 name: Multiple impacted teeth def: "The presence of multiple impacted teeth." [HPO:ibailleulforestier] synonym: "Impacted teeth" EXACT layperson [] -synonym: "Multiple buried teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Multiple buried teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Multiple impacted teeth" EXACT layperson [] -synonym: "Multiple retained teeth" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Multiple retained teeth" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C1839965 xref: UMLS:C4280593 is_a: HP:0011079 ! Impacted tooth @@ -14950,13 +14982,13 @@ name: Macrodontia def: "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [HPO:ibailleulforestier, pmid:19125428] comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. subset: hposlim_core -synonym: "Hyperplasia of tooth" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of tooth" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of tooth" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of tooth" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of tooth" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased size of tooth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large teeth" EXACT [] synonym: "Large tooth" BROAD layperson [] -synonym: "Tooth mass excess" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Tooth mass excess" RELATED layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:71485000 xref: UMLS:C0266036 xref: UMLS:C4280590 @@ -15065,10 +15097,10 @@ is_a: HP:0001547 ! Abnormality of the rib cage id: HP:0001592 name: Selective tooth agenesis def: "Agenesis specifically affecting one of the classes incisor, premolar, or molar." [HPO:ibailleulforestier] -synonym: "Absence of a tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of a tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of a tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing a tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of a tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of a tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of a tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing a tooth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1970308 xref: UMLS:C4280251 is_a: HP:0009804 ! Reduced number of teeth @@ -15077,13 +15109,13 @@ is_a: HP:0009804 ! Reduced number of teeth id: HP:0001593 name: Maxillary lateral incisor microdontia def: "Decreased size of the maxillary permanent incisor." [HPO:ibailleulforestier] -synonym: "Decreased size of maxillary lateral incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of upper lateral incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of upper lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic maxillary lateral incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic upper lateral incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Small maxillary lateral incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Small upper lateral incisor" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Small maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Small upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C1845111 xref: UMLS:C4280588 xref: UMLS:C4280589 @@ -15096,7 +15128,7 @@ name: Abnormality of the hair def: "An abnormality of the hair." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the hair" EXACT layperson [] -synonym: "Abnormality of the hair shaft" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the hair shaft" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Hair abnormality" EXACT layperson [] xref: UMLS:C0157733 xref: UMLS:C2677869 @@ -15190,7 +15222,7 @@ xref: UMLS:C0751576 xref: UMLS:C1832690 xref: UMLS:C1843187 xref: UMLS:C1853729 -is_a: HP:0008777 ! Abnormality of the vocal cords +is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0001605 @@ -15199,14 +15231,14 @@ alt_id: HP:0001606 alt_id: HP:0006847 def: "A loss of the ability to move the vocal folds." [HPO:probinson] comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. -synonym: "Inability to move vocal cords" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inability to move vocal cords" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Laryngeal paralysis" EXACT [] xref: MSH:D014826 xref: SNOMEDCT_US:302912005 xref: UMLS:C0042928 xref: UMLS:C1854345 is_a: HP:0003470 ! Paralysis -is_a: HP:0008777 ! Abnormality of the vocal cords +is_a: HP:0031801 ! Vocal cord dysfunction [Term] id: HP:0001606 @@ -15285,7 +15317,7 @@ is_a: HP:0001609 ! Hoarse voice id: HP:0001618 name: Dysphonia def: "An impairment in the ability to produce voice sounds." [HPO:probinson] -synonym: "Inability to produce voice sounds" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inability to produce voice sounds" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D055154 xref: SNOMEDCT_US:47004009 xref: UMLS:C1527344 @@ -15373,7 +15405,7 @@ alt_id: HP:3000001 def: "Any structural anomaly of the heart." [HPO:probinson] synonym: "Abnormality of cardiac morphology" EXACT [] synonym: "Abnormality of the heart" EXACT layperson [] -synonym: "Abnormally shaped heart" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally shaped heart" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cardiac abnormality" EXACT [] synonym: "Cardiac anomalies" EXACT [] synonym: "Congenital heart defect" EXACT [] @@ -15391,6 +15423,7 @@ alt_id: HP:0001652 def: "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] synonym: "Ventricular septal defects" EXACT [] synonym: "Ventriculoseptal defect" EXACT [] +xref: Fyler:1300 xref: MSH:D006345 xref: SNOMEDCT_US:253549006 xref: SNOMEDCT_US:30288003 @@ -15406,6 +15439,7 @@ synonym: "ASD" EXACT HP:0045077 [HPO:skoehler] synonym: "Atria septal defect" EXACT [] synonym: "Atrial septum defect" EXACT [] synonym: "Defect in the atrial septum" EXACT [] +xref: Fyler:2050 xref: ICD-10:Q21.1 xref: MSH:D006344 xref: SNOMEDCT_US:253366007 @@ -15429,6 +15463,7 @@ id: HP:0001634 name: Mitral valve prolapse def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] comment: Mitral valve prolapse can be associated with mitral regurgitation. +xref: Fyler:1533 xref: MSH:D008945 xref: SNOMEDCT_US:409712001 xref: SNOMEDCT_US:8074002 @@ -15476,6 +15511,7 @@ is_a: HP:0001627 ! Abnormal heart morphology id: HP:0001638 name: Cardiomyopathy def: "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [HPO:probinson, pmid:17916581] +xref: Fyler:1840 xref: MSH:D009202 xref: SNOMEDCT_US:57809008 xref: SNOMEDCT_US:85898001 @@ -15498,7 +15534,7 @@ id: HP:0001640 name: Cardiomegaly def: "Increased size of the heart." [HPO:probinson] synonym: "Enlarged heart" EXACT layperson [] -synonym: "Increased heart size" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased heart size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006332 xref: SNOMEDCT_US:8186001 xref: UMLS:C0018800 @@ -15510,6 +15546,8 @@ name: Abnormal pulmonary valve morphology def: "Any structural abnormality of the pulmonary valve." [HPO:probinson] synonym: "Abnormality of the pulmonary valve" EXACT [] synonym: "Anomaly of the pulmonary valve" EXACT [] +xref: Fyler:1600 +xref: Fyler:1602 xref: SNOMEDCT_US:448643005 xref: UMLS:C3164374 is_a: HP:0001654 ! Abnormal heart valve morphology @@ -15519,10 +15557,11 @@ id: HP:0001642 name: Pulmonic stenosis def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] comment: Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. -synonym: "Narrowing of pulmonic valve" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of pulmonic valve" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] +xref: Fyler:1611 xref: MSH:D011666 xref: SNOMEDCT_US:56786000 xref: UMLS:C1956257 @@ -15535,6 +15574,7 @@ def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output a synonym: "Ductus arteriosus" EXACT [] synonym: "Persistent arterial duct" EXACT [] synonym: "Persistent ductus arteriosus" EXACT [] +xref: Fyler:2100 xref: MSH:D004374 xref: SNOMEDCT_US:83330001 xref: UMLS:C0013274 @@ -15549,6 +15589,7 @@ alt_id: HP:0200130 def: "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [pmid:17916581] synonym: "Cardiomyopathy, dilated" EXACT [] synonym: "Congestive cardiomyopathy" EXACT [] +xref: Fyler:1843 xref: MSH:D002311 xref: SNOMEDCT_US:195021004 xref: SNOMEDCT_US:399020009 @@ -15572,6 +15613,8 @@ id: HP:0001646 name: Abnormal aortic valve morphology def: "Any abnormality of the aortic valve." [HPO:curators] synonym: "Abnormality of the aortic valve" EXACT [] +xref: Fyler:1400 +xref: Fyler:1408 xref: SNOMEDCT_US:448743001 xref: UMLS:C3164445 is_a: HP:0001654 ! Abnormal heart valve morphology @@ -15622,8 +15665,9 @@ alt_id: HP:0005140 def: "The presence of a stenosis (narrowing) of the aortic valve." [HPO:probinson] comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. synonym: "Aortic stenosis" EXACT [] -synonym: "Narrowing of aortic valve" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of aortic valve" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Valvular aortic stenosis" EXACT [] +xref: Fyler:1411 xref: MSH:D001024 xref: SNOMEDCT_US:60573004 xref: UMLS:C0003507 @@ -15635,6 +15679,8 @@ name: Dextrocardia def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [DDD:dbrown, HPO:sdoelken] synonym: "Thoracic situs inversus" EXACT [] xref: EPCC:02.01.02 +xref: Fyler:0110 +xref: Fyler:110 xref: ICD-10:Q24.0 xref: MSH:D003914 xref: SNOMEDCT_US:27637000 @@ -15650,6 +15696,7 @@ synonym: "Mitral insufficiency" EXACT [] synonym: "Mitral regurgitation, mild" RELATED [] synonym: "Mitral valve insufficiency" EXACT [] synonym: "Mitral valve regurgitation" EXACT [] +xref: Fyler:1151 xref: MSH:D008944 xref: SNOMEDCT_US:48724000 xref: UMLS:C0026266 @@ -15675,6 +15722,7 @@ id: HP:0001655 name: Patent foramen ovale def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [DDD:dbrown, HPO:probinson] comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. +xref: Fyler:2020 xref: ICD-10:Q21.1 xref: MSH:D054092 xref: SNOMEDCT_US:204317008 @@ -15697,7 +15745,7 @@ is_a: HP:0031547 ! Abnormal QT interval id: HP:0001658 name: Myocardial infarction def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [HPO:probinson] -synonym: "Heart attack" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Heart attack" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "MI" EXACT HP:0045077 [] xref: MSH:D009203 xref: SNOMEDCT_US:22298006 @@ -15721,6 +15769,8 @@ name: Truncus arteriosus def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [DDD:dbrown, HPO:probinson] synonym: "Common arterial trunk" EXACT [] synonym: "Persistant truncus arteriosus" RELATED [] +xref: Fyler:0500 +xref: Fyler:500 xref: ICD-10:Q20.0 xref: MSH:D014338 xref: SNOMEDCT_US:58140002 @@ -15763,7 +15813,8 @@ is_a: HP:0004308 ! Ventricular arrhythmia id: HP:0001667 name: Right ventricular hypertrophy def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [HPO:probinson] -synonym: "Heart right ventricle hypertrophy" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Heart right ventricle hypertrophy" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:3609 xref: MSH:D017380 xref: SNOMEDCT_US:89792004 xref: UMLS:C0162770 @@ -15821,6 +15872,7 @@ synonym: "Atrioventricular canal" EXACT [] synonym: "Common atrioventricular canal" EXACT [] synonym: "Complete atrioventricular septal defect" EXACT [] synonym: "Complete common AV canal" EXACT [] +xref: Fyler:1120 xref: MSH:C562831 xref: SNOMEDCT_US:253414002 xref: UMLS:C1389018 @@ -15847,7 +15899,7 @@ def: "Reduction of the diameter of the coronary arteries as the result of an acc comment: Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. synonym: "Coronary atherosclerosis" EXACT [] synonym: "Coronary disease" EXACT [] -synonym: "Plaque build-up in arteries supplying blood to heart" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Plaque build-up in arteries supplying blood to heart" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D003324 xref: SNOMEDCT_US:414024009 xref: SNOMEDCT_US:53741008 @@ -15876,8 +15928,9 @@ id: HP:0001679 name: Abnormal aortic morphology alt_id: HP:0030963 def: "An abnormality of the aorta." [HPO:probinson, PMID:24910511] -synonym: "Abnormal aorta morphology" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal aorta morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the aorta" EXACT [] +xref: Fyler:1453 xref: UMLS:C4025756 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0030962 ! Abnormal morphology of the great vessels @@ -15921,6 +15974,8 @@ id: HP:0001683 name: Ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall." [DDD:dbrown] comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). +xref: Fyler:0170 +xref: Fyler:170 xref: MSH:D054083 xref: SNOMEDCT_US:78250005 xref: UMLS:C0013580 @@ -15934,6 +15989,7 @@ def: "A kind of atrial septum defect arising from an enlarged foramen ovale, ina synonym: "Atrial septal defect, ostium secundum type" EXACT [HPO:skoehler] synonym: "Ostium secundum atrial septal defect" EXACT [] synonym: "Patent ostium secundum" EXACT [] +xref: Fyler:2000 xref: ICD-10:Q21.1 xref: MSH:D006344 xref: SNOMEDCT_US:204315000 @@ -15962,6 +16018,7 @@ id: HP:0001688 name: Sinus bradycardia alt_id: HP:0005137 def: "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute." [HPO:probinson] +xref: Fyler:7013 xref: SNOMEDCT_US:49710005 xref: UMLS:C0085610 is_a: HP:0001662 ! Bradycardia @@ -16018,6 +16075,8 @@ def: "A left-right reversal (or \"mirror reflection\") of the anatomical locatio synonym: "Situs inversus" RELATED [] synonym: "situs oppositus" EXACT [] synonym: "situs transversus" EXACT [] +xref: Fyler:0100 +xref: Fyler:100 xref: MSH:D012857 xref: MSH:D059446 xref: SNOMEDCT_US:14821001 @@ -16034,6 +16093,7 @@ id: HP:0001697 name: Abnormal pericardium morphology def: "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." [HPO:probinson] synonym: "Abnormality of the pericardium" EXACT [] +xref: Fyler:1900 xref: UMLS:C4025754 is_a: HP:0001627 ! Abnormal heart morphology @@ -16042,6 +16102,7 @@ id: HP:0001698 name: Pericardial effusion def: "Accumulation of fluid within the pericardium." [HPO:probinson] synonym: "Pericardial effusions" EXACT [] +xref: Fyler:1940 xref: MSH:D010490 xref: SNOMEDCT_US:373945007 xref: UMLS:C0031039 @@ -16088,6 +16149,7 @@ is_a: HP:0006705 ! Abnormal atrioventricular valve morphology id: HP:0001704 name: Tricuspid valve prolapse def: "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [HPO:probinson] +xref: Fyler:1733 xref: MSH:D014263 xref: SNOMEDCT_US:253383003 xref: UMLS:C0040962 @@ -16116,6 +16178,7 @@ def: "An abnormality of the right ventricle of the heart." [HPO:probinson] comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. synonym: "Abnormality of the right ventricle" EXACT [] synonym: "Right ventricular abnormality" EXACT [] +xref: Fyler:1820 xref: SNOMEDCT_US:253516002 xref: UMLS:C0344887 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology @@ -16154,11 +16217,12 @@ is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001711 -name: Abnormal morphology of the left ventricle +name: Abnormal left ventricle morphology def: "Any structural abnormality of the left ventricle of the heart." [HPO:probinson] -synonym: "Abnormal heart left ventricle morphology" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal heart left ventricle morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the left ventricle" EXACT [] synonym: "Left ventricular abnormality" EXACT [] +xref: Fyler:1810 xref: SNOMEDCT_US:253535002 xref: UMLS:C0344905 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology @@ -16168,12 +16232,13 @@ id: HP:0001712 name: Left ventricular hypertrophy alt_id: HP:0005171 def: "Enlargement or increased size of the heart left ventricle." [MP:0002625] -synonym: "Heart left ventricle hypertrophy" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Heart left ventricle hypertrophy" EXACT [ORCID:0000-0001-5208-3432] synonym: "Left ventricular wall hypertrophy" EXACT [] +xref: Fyler:3608 xref: MSH:D017379 xref: SNOMEDCT_US:55827005 xref: UMLS:C0149721 -is_a: HP:0001711 ! Abnormal morphology of the left ventricle +is_a: HP:0001711 ! Abnormal left ventricle morphology is_a: HP:0001714 ! Ventricular hypertrophy [Term] @@ -16218,6 +16283,7 @@ alt_id: HP:0005163 def: "Ab abnormal narrowing of the orifice of the mitral valve." [DDD:dbrown] synonym: "Mitral valve stenosis" EXACT [] xref: EPCC:06.02.92 +xref: Fyler:1511 xref: ICD-10:Q23.2 xref: MSH:D008946 xref: SNOMEDCT_US:79619009 @@ -16231,6 +16297,8 @@ def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial conne comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. synonym: "DORV" EXACT HP:0045077 [] synonym: "Double-outlet right ventricle" EXACT [] +xref: Fyler:600 +xref: Fyler:606 xref: MSH:D004310 xref: SNOMEDCT_US:7484005 xref: UMLS:C0013069 @@ -16299,7 +16367,7 @@ is_a: HP:0002012 ! Abnormality of the abdominal organs id: HP:0001733 name: Pancreatitis def: "The presence of inflammation in the pancreas." [HPO:probinson] -synonym: "Pancreatic inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Pancreatic inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010195 xref: SNOMEDCT_US:75694006 xref: UMLS:C0030305 @@ -16320,7 +16388,7 @@ id: HP:0001735 name: Acute pancreatitis alt_id: HP:0004512 def: "A acute form of pancreatitis." [HPO:probinson] -synonym: "Acute pancreatic inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Acute pancreatic inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Pancreatitis, acute" EXACT [] xref: SNOMEDCT_US:197456007 xref: UMLS:C0001339 @@ -16375,12 +16443,12 @@ is_a: HP:0100587 ! Abnormality of the preputium id: HP:0001742 name: Nasal obstruction def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [HPO:probinson] -synonym: "Blockage of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Congestion of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Nasal blockage" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Nasal congestion" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Blockage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Congestion of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Nasal blockage" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Nasal congestion" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal obstruction" EXACT layperson [] -synonym: "Obstruction of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Obstruction of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Stuffy nose" EXACT layperson [http://www.entnet.org/content/stuffy-nose] xref: MSH:D015508 xref: SNOMEDCT_US:232209000 @@ -16406,7 +16474,7 @@ name: Splenomegaly alt_id: HP:0001745 alt_id: HP:0006269 def: "Abnormal increased size of the spleen." [HPO:probinson] -synonym: "Increased spleen size" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased spleen size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D013163 xref: SNOMEDCT_US:16294009 xref: UMLS:C0038002 @@ -16417,7 +16485,8 @@ is_a: HP:0025408 ! Abnormal spleen morphology id: HP:0001746 name: Asplenia def: "Absence (aplasia) of the spleen." [HPO:curators] -synonym: "Absent spleen" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent spleen" EXACT layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:4771 xref: SNOMEDCT_US:702624008 xref: SNOMEDCT_US:707147002 xref: SNOMEDCT_US:93030006 @@ -16428,6 +16497,7 @@ is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen id: HP:0001747 name: Accessory spleen def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:probinson] +xref: Fyler:4772 xref: SNOMEDCT_US:10362008 xref: UMLS:C0266631 is_a: HP:0009799 ! Supernumerary spleens @@ -16448,7 +16518,9 @@ is_a: HP:0009799 ! Supernumerary spleens id: HP:0001750 name: Single ventricle def: "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle." [MP:0010432] -synonym: "Common ventricle" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Common ventricle" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:0200 +xref: Fyler:200 xref: SNOMEDCT_US:45503006 xref: UMLS:C0152424 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology @@ -16524,6 +16596,7 @@ synonym: "Equinovarus" EXACT [] synonym: "Foot, talipes equinovarus" EXACT [] synonym: "Pes equinovarus" EXACT [] synonym: "Pes equinus" EXACT [] +xref: Fyler:4171 xref: MEDDRA:10043106 "Talipes equinovarus, congenital" xref: MSH:D003025 xref: SNOMEDCT_US:249808002 @@ -16568,7 +16641,7 @@ def: "A foot for which the measured width is above the 95th centile for age; or, subset: hposlim_core synonym: "Broad feet" EXACT layperson [] synonym: "Broad foot" EXACT layperson [] -synonym: "Wide foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866241 is_a: HP:0001760 ! Abnormality of the foot @@ -16578,10 +16651,10 @@ name: Toe syndactyly alt_id: HP:0001828 alt_id: HP:0005677 def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as \"Symphalangism\"." [HPO:curators] -synonym: "Fused toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Syndactyly of feet" EXACT [] synonym: "Syndactyly of toes" EXACT [] -synonym: "Webbed toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:32113001 xref: UMLS:C0265660 is_a: HP:0001159 ! Syndactyly @@ -16670,7 +16743,7 @@ alt_id: HP:0005907 alt_id: HP:0008106 def: "Increased side-to-side width of a metatarsal bone." [HPO:probinson] synonym: "Broad metatarsals" RELATED [] -synonym: "Wide long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wide long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Widened metatarsal shaft" RELATED [] xref: UMLS:C1842231 xref: UMLS:C1850161 @@ -16809,7 +16882,7 @@ is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails id: HP:0001800 name: Hypoplastic toenails def: "Underdevelopment of the toenail." [HPO:probinson] -synonym: "Underdeveloped toenails" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped toenails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837279 is_a: HP:0001792 ! Small nail is_a: HP:0010624 ! Aplastic/hypoplastic toenail @@ -16844,8 +16917,8 @@ is_a: HP:0002164 ! Nail dysplasia id: HP:0001804 name: Hypoplastic fingernail def: "Underdevelopment of a fingernail." [HPO:curators] -synonym: "Small fingernail" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped fingernail" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Small fingernail" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped fingernail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856786 is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0001792 ! Small nail @@ -16869,7 +16942,7 @@ id: HP:0001806 name: Onycholysis def: "Detachment of the nail from the nail bed." [HPO:probinson] subset: hposlim_core -synonym: "Detachment of nail" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Detachment of nail" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Oncholysis" EXACT [] xref: MEDDRA:10030337 "Onycholysis" xref: MSH:D054039 @@ -16919,7 +16992,7 @@ alt_id: HP:0007558 def: "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate." [HPO:probinson] synonym: "Dystrophic toenail changes" EXACT [] synonym: "Dystrophic toenails" RELATED [] -synonym: "Poor toenail formation" EXACT layperson [http://naildystrophy.com/, http://orcid.org/0000-0001-5208-3432] +synonym: "Poor toenail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432] xref: UMLS:C1833225 is_a: HP:0008388 ! Abnormal toenail morphology is_a: HP:0008404 ! Nail dystrophy @@ -16979,7 +17052,7 @@ is_a: HP:0100803 ! Abnormality of the periungual region id: HP:0001820 name: Leukonychia def: "White discoloration of the nails." [HPO:probinson] -synonym: "White discoloration of nails" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "White discoloration of nails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10050658 "Leukonychia" xref: SNOMEDCT_US:111202002 xref: UMLS:C0240182 @@ -17001,7 +17074,7 @@ id: HP:0001822 name: Hallux valgus alt_id: HP:0004682 def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] -synonym: "Bunion" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Bunion" EXACT [ORCID:0000-0001-5208-3432] synonym: "Lateral deviation of great toe" EXACT [] synonym: "Lateral deviation of halluces" EXACT [] xref: MSH:D000071378 @@ -17083,7 +17156,7 @@ synonym: "Hypoplastic toes" EXACT [] synonym: "Short foot phalanges" EXACT [] synonym: "Short toe" EXACT layperson [] synonym: "Short toes" EXACT layperson [] -synonym: "Stubby toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Stubby toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836195 is_a: HP:0001991 ! Aplasia/Hypoplasia of toe is_a: HP:0011927 ! Short digit @@ -17092,7 +17165,7 @@ is_a: HP:0011927 ! Short digit id: HP:0001832 name: Abnormality of the metatarsal bones def: "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." [HPO:probinson] -synonym: "Abnormality of the long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025745 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0040069 ! Abnormality of lower limb bone @@ -17128,7 +17201,7 @@ def: "Visible increase in width of the non-hallux digit without an increase in t comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. subset: hposlim_core synonym: "Broad toe" EXACT layperson [] -synonym: "Wide toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865038 is_a: HP:0001780 ! Abnormality of toe @@ -17222,7 +17295,7 @@ name: Abnormality of the hallux def: "This term applies for all abnormalities of the big toe, also called hallux." [HPO:probinson] subset: hposlim_core synonym: "Abnormalities of the hallux" EXACT [] -synonym: "Abnormality of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021773 is_a: HP:0001780 ! Abnormality of toe @@ -17248,7 +17321,7 @@ def: "Increased length of the big toe." [HPO:probinson] subset: hposlim_core synonym: "Increased length of the hallux" EXACT [] synonym: "Large halluces" EXACT [] -synonym: "Long big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Long big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Long halluces" EXACT [] xref: UMLS:C1864375 is_a: HP:0001844 ! Abnormality of the hallux @@ -17285,7 +17358,7 @@ is_a: HP:0012165 ! Oligodactyly id: HP:0001850 name: Abnormality of the tarsal bones def: "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [HPO:curators] -synonym: "Abnormal ankle bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal tarsals" EXACT [] xref: UMLS:C1862136 is_a: HP:0001760 ! Abnormality of the foot @@ -17316,7 +17389,7 @@ name: Bifid distal phalanx of toe alt_id: HP:0005615 synonym: "Bifid distal phalanges of toes" EXACT [] synonym: "Bifid terminal phalanx of toe" EXACT [] -synonym: "Notched outermost bones of toes" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Notched outermost bones of toes" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021772 is_a: HP:0009136 ! Duplication involving bones of the feet @@ -17336,7 +17409,7 @@ name: Short distal phalanx of toe def: "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe." [pmid:19125433] comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. synonym: "Hypoplastic distal phalanges of feet" EXACT [] -synonym: "Short outermost bone of toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021771 is_a: HP:0005035 ! Shortening of all phalanges of the toes is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes @@ -17362,7 +17435,7 @@ id: HP:0001863 name: Toe clinodactyly def: "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "Clinodactyly of feet" EXACT [] -synonym: "Toe curvature" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Toe curvature" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021770 xref: UMLS:C4280587 is_a: HP:0030084 ! Clinodactyly @@ -17372,9 +17445,9 @@ is_a: HP:0100498 ! Deviation of toes id: HP:0001864 name: Clinodactyly of the 5th toe def: "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] -synonym: "Curvature of the little toe" BROAD [orcid.org/0000-0001-5208-3432] -synonym: "Curvature of the pinkie toe" BROAD [orcid.org/0000-0001-5208-3432] -synonym: "Curvature of the pinky toe" BROAD [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of the little toe" BROAD [ORCID:0000-0001-5208-3432] +synonym: "Curvature of the pinkie toe" BROAD [ORCID:0000-0001-5208-3432] +synonym: "Curvature of the pinky toe" BROAD [ORCID:0000-0001-5208-3432] xref: UMLS:C4025741 xref: UMLS:C4280586 is_a: HP:0001863 ! Toe clinodactyly @@ -17476,7 +17549,7 @@ alt_id: HP:0005515 alt_id: HP:0005533 def: "An abnormally low number of neutrophils in the peripheral blood." [HPO:probinson] comment: Mild neutropenia is defined as an absolute neutrophil cont between 1000 and 1500 cells per microliter, moderte as between 500 and 100, and severe as less than 500 cells. -synonym: "Low blood neutrophil count" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood neutrophil count" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Low neutrophil count" EXACT layperson [] synonym: "Peripheral neutropenia" EXACT [] xref: SNOMEDCT_US:165517008 @@ -17487,7 +17560,7 @@ is_a: HP:0011991 ! Abnormal neutrophil count id: HP:0001876 name: Pancytopenia def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [HPO:probinson] -synonym: "Low blood cell count" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood cell count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010198 xref: SNOMEDCT_US:127034005 xref: UMLS:C0030312 @@ -17534,7 +17607,7 @@ is_a: HP:0001911 ! Abnormality of granulocytes id: HP:0001880 name: Eosinophilia def: "Increased count of eosinophils in the blood." [HPO:sdoelken] -synonym: "High blood eosinophil count" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood eosinophil count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004802 xref: UMLS:C0014457 is_a: HP:0001879 ! Abnormality of eosinophils @@ -17557,7 +17630,7 @@ is_a: HP:0010987 ! Abnormality of cellular immune system id: HP:0001882 name: Leukopenia def: "An abnormal decreased number of leukocytes in the blood." [HPO:probinson] -synonym: "Decreased blood leukocyte number" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased blood leukocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Low white blood cell count" EXACT layperson [] xref: MSH:D007970 xref: SNOMEDCT_US:84828003 @@ -17608,8 +17681,8 @@ is_a: HP:0002754 ! Osteomyelitis id: HP:0001888 name: Lymphopenia def: "A reduced number of lymphocytes in the blood." [HPO:probinson] -synonym: "Decreased blood lymphocyte number" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Low lymphocyte number" EXACT [http://orcid.org/0000-0001-7941-2961] {synonymtypedef="layperson"} +synonym: "Decreased blood lymphocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Low lymphocyte number" EXACT layperson [ORCID:0000-0001-7941-2961] synonym: "Lymphocytopenia" EXACT [] xref: MSH:D008231 xref: SNOMEDCT_US:48813009 @@ -17643,7 +17716,7 @@ is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001891 name: Iron deficiency anemia -synonym: "Ferropenic" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Ferropenic" EXACT [ORCID:0000-0001-6908-9849] synonym: "Iron-deficiency anemia" EXACT [] xref: MSH:D018798 xref: SNOMEDCT_US:87522002 @@ -17733,7 +17806,7 @@ id: HP:0001901 name: Polycythemia alt_id: HP:0001893 def: "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [HPO:probinson] -synonym: "Abnormally shaped erythrocytes" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Abnormally shaped erythrocytes" EXACT [ORCID:0000-0001-6908-9849] synonym: "Erythrocytosis" EXACT [] synonym: "Polyglobulia" EXACT [] xref: MSH:D011086 @@ -17818,7 +17891,7 @@ name: Leukemia alt_id: HP:0005519 alt_id: HP:0006726 def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:probinson] -synonym: "Blood cancer" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007938 xref: MSH:D019337 xref: SNOMEDCT_US:129154003 @@ -17882,7 +17955,7 @@ id: HP:0001919 name: Acute kidney injury def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [HPO:probinson] comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. -synonym: "Acute kidney failure" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Acute kidney failure" EXACT [ORCID:0000-0001-5208-3432] synonym: "Acute renal failure" EXACT [] xref: MSH:D058186 xref: SNOMEDCT_US:14350001000004108 @@ -17895,7 +17968,8 @@ is_a: HP:0000083 ! Renal insufficiency id: HP:0001920 name: Renal artery stenosis def: "The presence of stenosis of the renal artery." [HPO:probinson] -synonym: "Narrowing of kidney artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of kidney artery" EXACT layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:2634 xref: MSH:D012078 xref: SNOMEDCT_US:282664001 xref: SNOMEDCT_US:302233006 @@ -17954,7 +18028,7 @@ is_a: HP:0004447 ! Poikilocytosis id: HP:0001928 name: Abnormality of coagulation def: "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [HPO:probinson] -synonym: "Abnormal blood clotting" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal blood clotting" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Blood coagulation disorder" RELATED [] synonym: "Coagulation abnormalities" EXACT [] @@ -18002,7 +18076,7 @@ id: HP:0001933 name: Subcutaneous hemorrhage def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [HPO:probinson] comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. -synonym: "Bleeding below the skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bleeding below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0854107 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011276 ! Vascular skin abnormality @@ -18075,7 +18149,7 @@ name: Hypoglycemia alt_id: HP:0003356 def: "A decreased concentration of glucose in the blood." [HPO:curators] synonym: "Hypoglycaemia" EXACT [] -synonym: "Low blood sugar" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood sugar" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007003 xref: SNOMEDCT_US:237630007 xref: SNOMEDCT_US:271327008 @@ -18112,7 +18186,7 @@ name: Ketosis alt_id: HP:0003543 def: "Presence of elevated levels of ketone bodies in the body." [HPO:probinson] comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. -synonym: "High levels of ketone bodies" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "High levels of ketone bodies" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ketonemia" EXACT [] xref: MSH:D007662 xref: SNOMEDCT_US:213281004 @@ -18243,8 +18317,8 @@ is_a: HP:0200114 ! Metabolic alkalosis [Term] id: HP:0001961 name: Hypoplastic heart -synonym: "Small heart" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped heart" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small heart" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped heart" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3151525 is_a: HP:0001627 ! Abnormal heart morphology @@ -18276,8 +18350,8 @@ def: "Absence or underdevelopment of the metatarsal bones." [HPO:curators] synonym: "Absent or hypoplastic metatarsal" EXACT [] synonym: "Absent/hypoplastic metacarpals" EXACT [] synonym: "Absent/hypoplastic metatarsals" EXACT [] -synonym: "Absent/small long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic metatarsals" EXACT [] xref: UMLS:C1860182 is_a: HP:0001832 ! Abnormality of the metatarsal bones @@ -18289,7 +18363,7 @@ name: Abnormality of the scalp def: "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows." [HPO:probinson] comment: The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. synonym: "Abnormality of the scalp" EXACT layperson [] -synonym: "Anomaly of scalp" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of scalp" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025734 is_a: HP:0000234 ! Abnormality of the head @@ -18386,7 +18460,7 @@ name: Leukocytosis def: "An abnormal increase in the number of leukocytes in the blood." [HPO:probinson] synonym: "Elevated white blood count" EXACT layperson [] synonym: "High white blood count" EXACT layperson [] -synonym: "Increased blood leukocyte number" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased blood leukocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007964 xref: SNOMEDCT_US:111583006 xref: UMLS:C0023518 @@ -18423,7 +18497,7 @@ is_a: HP:0010989 ! Abnormality of the intrinsic pathway id: HP:0001977 name: Abnormal thrombosis def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [HPO:probinson] -synonym: "Abnormal blood clot" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal blood clot" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025731 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues @@ -18508,7 +18582,7 @@ name: Hyperammonemia alt_id: HP:0008308 alt_id: HP:0008334 def: "An increased concentration of ammonia in the blood." [HPO:gcarletti] -synonym: "High blood ammonia levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood ammonia levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D022124 xref: SNOMEDCT_US:9360008 xref: UMLS:C0220994 @@ -18523,7 +18597,7 @@ synonym: "hypoglycemia, recurrent" EXACT [HPO:skoehler] synonym: "Hypoglycemic episodes" EXACT [] synonym: "Recurrent hypoglycaemia" EXACT [] synonym: "Recurrent hypoglycemic episodes" EXACT [] -synonym: "Recurrent low blood sugar levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Recurrent low blood sugar levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846288 is_a: HP:0001943 ! Hypoglycemia @@ -18545,8 +18619,8 @@ id: HP:0001991 name: Aplasia/Hypoplasia of toe def: "Absence or hypoplasia of toes." [HPO:probinson] synonym: "Absent/hypoplastic toes" RELATED [HPO:skoehler] -synonym: "Absent/small toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic toe phalanges" EXACT [] xref: UMLS:C3551148 is_a: HP:0001780 ! Abnormality of toe @@ -18617,7 +18691,7 @@ is_a: HP:0002149 ! Hyperuricemia [Term] id: HP:0001998 name: Neonatal hypoglycemia -synonym: "Low blood sugar in newborn" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Low blood sugar in newborn" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:52767006 xref: UMLS:C0158986 is_a: HP:0001943 ! Hypoglycemia @@ -18637,17 +18711,17 @@ def: "An abnormal morphology (form) of the face or its components." [DDD:jclayto comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. subset: hposlim_core synonym: "Abnormal facial shape" EXACT layperson [] -synonym: "Abnormal morphology of the face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of face" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal morphology of the face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of face" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Distinctive facies" EXACT [] -synonym: "Distortion of face" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Distortion of face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Dysmorphic facial features" EXACT [] -synonym: "Dysmorphic facies" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Facial Dysmorphism" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Facial dysmorphism" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Funny looking face" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of face" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unusual facial appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dysmorphic facies" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Facial Dysmorphism" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Facial dysmorphism" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Funny looking face" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of face" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Unusual facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unusual facies" EXACT [] xref: SNOMEDCT_US:248200007 xref: SNOMEDCT_US:32003007 @@ -18667,8 +18741,8 @@ def: "Reduced distance from the anterior border of the naris to the subnasale." comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. subset: hposlim_core synonym: "Columella, short" EXACT [] -synonym: "Decreased length of columella" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of columella" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of columella" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of columella" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C1857479 xref: UMLS:C4280585 is_a: HP:0009929 ! Abnormality of the columella @@ -18682,10 +18756,10 @@ def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groov comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. subset: hposlim_core synonym: "Depressed philtrum" RELATED [] -synonym: "Increased depth of philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Increased depth of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum, deep" EXACT [] synonym: "Prominent philtrum" EXACT [] -synonym: "Pronounced philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Pronounced philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1839797 xref: UMLS:C4020861 is_a: HP:0000288 ! Abnormality of the philtrum @@ -18693,10 +18767,10 @@ is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0002003 name: Large forehead -synonym: "Hyperplasia of forehead" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of forehead" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of frontal region of face" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of forehead" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of forehead" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Increased size of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased size of frontal region of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large forehead" EXACT layperson [] xref: UMLS:C1839783 xref: UMLS:C4280583 @@ -18709,10 +18783,10 @@ name: Facial cleft def: "A congenital malformation with a cleft (gap or opening) in the face." [HPO:probinson] comment: The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations. subset: hposlim_core -synonym: "Cleft of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cleft of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial cleft" EXACT layperson [] synonym: "Facial clefts" RELATED layperson [HPO:skoehler] -synonym: "Tessier facial cleft" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Tessier facial cleft" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:92821006 xref: UMLS:C0685787 is_a: HP:0000271 ! Abnormality of the face @@ -18727,8 +18801,8 @@ alt_id: HP:0001359 def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [pmid:19125436] comment: This is not the same as prominent forehead. subset: hposlim_core -synonym: "Frontal protruberance" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Skull bossing" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Frontal protruberance" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Skull bossing" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:90145001 xref: UMLS:C0221354 is_a: HP:0000290 ! Abnormality of the forehead @@ -18746,14 +18820,14 @@ is_a: HP:0011334 ! Facial shape deformation [Term] id: HP:0002010 name: Narrow maxilla -synonym: "Decreased breadth of upper jaw bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased transverse dimension of maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of upper jaw bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Narrow upper jaw bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Transverse hypoplasia of maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Transverse maxillary deficiency" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Transverse maxillary insufficiency" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased breadth of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased transverse dimension of maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Narrow upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Transverse hypoplasia of maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Transverse maxillary deficiency" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Transverse maxillary insufficiency" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1851835 is_a: HP:0000326 ! Abnormality of the maxilla @@ -18876,7 +18950,7 @@ synonym: "Acid reflux" EXACT layperson [] synonym: "Acid reflux disease" EXACT layperson [] synonym: "Gastroesophageal reflux disease" EXACT [] synonym: "GERD" EXACT HP:0045077 [HPO:skoehler] -synonym: "Heartburn" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Heartburn" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005764 xref: MSH:D006356 xref: SNOMEDCT_US:16331000 @@ -18893,6 +18967,7 @@ name: Pyloric stenosis def: "An abnormal narrowing of the pylorus." [HPO:probinson] comment: Pyloric stenosis occurs in the first few months of life. subset: hposlim_core +xref: Fyler:4444 xref: MEDDRA:10037621 "Pyloric stenosis" xref: MSH:D011707 xref: SNOMEDCT_US:367403001 @@ -18906,6 +18981,8 @@ alt_id: HP:0001550 def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson] subset: hposlim_core synonym: "Imperforate anus" RELATED [] +xref: Fyler:4402 +xref: Fyler:4443 xref: MEDDRA:10002120 "Anal atresia" xref: MSH:D001006 xref: SNOMEDCT_US:204712000 @@ -18921,14 +18998,14 @@ def: "Impaired ability to absorb one or more nutrients from the intestine." [HPO synonym: "Intestinal malabsorption" EXACT layperson [] synonym: "Malabsorption" EXACT layperson [] xref: UMLS:C3714745 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002025 name: Anal stenosis def: "Abnormal narrowing of the anal opening." [HPO:probinson] subset: hposlim_core -synonym: "Narrowing of anal opening" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of anal opening" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10002176 "Anal stenosis" xref: SNOMEDCT_US:250037002 xref: SNOMEDCT_US:69914001 @@ -18946,7 +19023,7 @@ synonym: "Abdominal pain" EXACT layperson [] synonym: "Gastro pain" BROAD layperson [] synonym: "Gastrointestinal pain" BROAD layperson [] synonym: "Pain in stomach" EXACT layperson [] -synonym: "Stomach pain" EXACT layperson [orcid.org/0000-0002-0736-9199] +synonym: "Stomach pain" EXACT layperson [ORCID:0000-0002-0736-9199] xref: MEDDRA:10000081 "Abdominal pain" xref: MSH:D015746 xref: SNOMEDCT_US:21522001 @@ -18979,6 +19056,7 @@ is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract id: HP:0002032 name: Esophageal atresia def: "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] +xref: Fyler:4412 xref: MSH:D004933 xref: SNOMEDCT_US:26179002 xref: UMLS:C0014850 @@ -19024,7 +19102,7 @@ def: "The presence of a hernia in which the upper part of the stomach, i.e., mai comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). subset: hposlim_core synonym: "Hiatal hernia" EXACT [] -synonym: "Stomach hernia" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Stomach hernia" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10020028 "Hiatus hernia" xref: MSH:D006551 xref: SNOMEDCT_US:84089009 @@ -19111,7 +19189,7 @@ id: HP:0002045 name: Hypothermia def: "Reduced body temperature due to failed thermoregulation." [HPO:sdoelken] comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). -synonym: "Abnormally low body temperature" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally low body temperature" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypothermia" EXACT layperson [] xref: MSH:D007035 xref: SNOMEDCT_US:386689009 @@ -19171,8 +19249,8 @@ is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0002054 name: Heavy supraorbital ridges -synonym: "Heavy brow of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Heavy supraorbital ridge" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Heavy brow of the face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Heavy supraorbital ridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1845107 is_a: HP:0000336 ! Prominent supraorbital ridges @@ -19186,10 +19264,10 @@ is_a: HP:0000178 ! Abnormality of lower lip id: HP:0002056 name: Abnormality of the glabella def: "An abnormality of the glabella." [HPO:probinson] -synonym: "Abnormality of the area between the eyebrows" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the area between the eyebrows" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the area between the eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Glabellar abnormality" EXACT [] -synonym: "Malformation of the area between the eyebrows" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Malformation of the area between the eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021763 is_a: HP:0000290 ! Abnormality of the forehead @@ -19199,10 +19277,10 @@ name: Prominent glabella def: "Forward protrusion of the glabella." [HPO:probinson, pmid:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. subset: hposlim_core -synonym: "Convex glabella" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of glabella" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent area between the eyebrows" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Protruding area between the eyebrows" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Convex glabella" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of glabella" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Protruding area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860247 is_a: HP:0002056 ! Abnormality of the glabella @@ -19212,7 +19290,7 @@ name: Myopathic facies alt_id: HP:0004647 def: "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] synonym: "Myopathic face" EXACT [] -synonym: "Myopathic facial appearance" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Myopathic facial appearance" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:26432009 xref: UMLS:C0332615 is_a: HP:0004673 ! Decreased facial expression @@ -19224,7 +19302,7 @@ alt_id: HP:0002422 alt_id: HP:0006890 def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [HPO:sdoelken] comment: Atrophy may be progressive over time. -synonym: "Degeneration of cerebrum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Degeneration of cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Supratentorial atrophy" RELATED [] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 @@ -19277,7 +19355,7 @@ is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002064 name: Spastic gait -synonym: "Spastic walk" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Spastic walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:9447003 xref: UMLS:C0231687 @@ -19300,7 +19378,7 @@ is_a: HP:0001288 ! Gait disturbance id: HP:0002067 name: Bradykinesia def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:probinson] -synonym: "Slow movements" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slow movements" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Slowness of movements" EXACT layperson [] xref: MSH:D018476 xref: SNOMEDCT_US:399317006 @@ -19553,8 +19631,8 @@ name: Pulmonary hypoplasia synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] -synonym: "Small lung" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped lung" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Small lung" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped lung" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:80825009 xref: UMLS:C0265783 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs @@ -19575,7 +19653,7 @@ id: HP:0002091 name: Restrictive ventilatory defect def: "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus." [] comment: The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. -synonym: "Restrictive lung disease" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Restrictive lung disease" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:36485005 xref: UMLS:C0085581 xref: UMLS:C3277226 @@ -19639,7 +19717,7 @@ id: HP:0002098 name: Respiratory distress alt_id: HP:0002880 def: "Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." [] -synonym: "Breathing difficulties" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Breathing difficulties" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Difficulty breathing" EXACT layperson [] synonym: "Respiratory difficulties" EXACT [] synonym: "Short of breath" RELATED layperson [] @@ -19725,6 +19803,7 @@ is_a: HP:0002793 ! Abnormal pattern of respiration id: HP:0002105 name: Hemoptysis def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:probinson] +synonym: "Coughing up blood" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Coughing up blood or blood-stained mucus" RELATED layperson [] synonym: "Haemoptysis" EXACT HP:0045076 [] xref: MSH:D006469 @@ -19737,7 +19816,7 @@ is_a: HP:0002088 ! Abnormal lung morphology id: HP:0002107 name: Pneumothorax def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [HPO:probinson] -synonym: "Collapsed lung" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Collapsed lung" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D011030 xref: SNOMEDCT_US:36118008 xref: UMLS:C0032326 @@ -19747,6 +19826,7 @@ is_a: HP:0002088 ! Abnormal lung morphology id: HP:0002108 name: Spontaneous pneumothorax def: "Pneumothorax occurring without traumatic injury to the chest or lung." [HPO:probinson] +synonym: "Spontaneous collapsed lung" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D011030 xref: SNOMEDCT_US:80423007 xref: UMLS:C0149781 @@ -19754,14 +19834,9 @@ is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0002109 -name: Abnormality of the bronchi -def: "An abnormality of the set of bronchi." [HPO:probinson] -synonym: "Bronchial disease" RELATED [] -xref: MSH:D001982 -xref: SNOMEDCT_US:41427001 -xref: UMLS:C0006261 -xref: UMLS:C4025725 -is_a: HP:0005607 ! Abnormality of the tracheobronchial system +name: obsolete Abnormality of the bronchi +is_obsolete: true +replaced_by: HP:0025426 [Term] id: HP:0002110 @@ -19775,7 +19850,7 @@ is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0002111 name: Restrictive deficit on pulmonary function testing -def: "FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent." [] {comment="NIHR:ldaugherty"} +def: "FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent." [NIHR:ldaugherty] synonym: "Restrictive deficit on pulmonary function tests" EXACT [] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory insufficiency'" EXACT [] @@ -19788,7 +19863,7 @@ is_a: HP:0030878 ! Abnormality on pulmonary function testing [Term] id: HP:0002113 name: Pulmonary infiltrates -synonym: "Lung infiltrates" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Lung infiltrates" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Pulmonic infiltration" EXACT [] xref: UMLS:C0235896 is_a: HP:0002088 ! Abnormal lung morphology @@ -19885,7 +19960,7 @@ id: HP:0002127 name: Abnormal upper motor neuron morphology def: "Any structural anomaly that affects the upper motor neuron." [] comment: previous def: 'has part' some \n(quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) -synonym: "Abnormal shape of upper motor neuron" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of upper motor neuron" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025723 is_a: HP:0002450 ! Abnormal motor neuron morphology @@ -19953,7 +20028,7 @@ name: Broad-based gait def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] synonym: "Broad based gait" EXACT [] synonym: "Wide based gait" EXACT [] -synonym: "Wide based walk" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wide based walk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide-based gait" EXACT [] xref: UMLS:C0856863 is_a: HP:0001288 ! Gait disturbance @@ -19991,7 +20066,7 @@ name: Gait imbalance alt_id: HP:0100683 synonym: "Abnormality of balance" EXACT layperson [] synonym: "Abnormality of equilibrium" EXACT layperson [] -synonym: "Imbalanced walk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Imbalanced walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836150 is_a: HP:0001288 ! Gait disturbance @@ -20012,7 +20087,7 @@ is_a: HP:0002011 ! Morphological abnormality of the central nervous system id: HP:0002144 name: Tethered cord def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] -synonym: "Occult spinal dysraphism" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Occult spinal dysraphism" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D009436 xref: SNOMEDCT_US:70534000 xref: UMLS:C0080218 @@ -20032,7 +20107,7 @@ id: HP:0002148 name: Hypophosphatemia def: "An abnormally decreased phosphate concentration in the blood." [HPO:gcarletti] synonym: "Hypophosphataemia" EXACT [] -synonym: "Low blood phosphate level" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Low blood phosphate level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D017674 xref: SNOMEDCT_US:4996001 xref: UMLS:C0085682 @@ -20042,7 +20117,7 @@ is_a: HP:0100529 ! Abnormality of phosphate homeostasis id: HP:0002149 name: Hyperuricemia def: "An abnormally high level of uric acid in the blood." [HPO:probinson] -synonym: "High blood uric acid level" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "High blood uric acid level" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperuricaemia" EXACT [] xref: MSH:D033461 xref: SNOMEDCT_US:35885006 @@ -20053,7 +20128,7 @@ is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0002150 name: Hypercalciuria -synonym: "Elevated urine calcium levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Elevated urine calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypercalcinuria" EXACT [] xref: MSH:D053565 xref: SNOMEDCT_US:71938000 @@ -20081,7 +20156,7 @@ is_a: HP:0010876 ! Abnormality of circulating protein level id: HP:0002153 name: Hyperkalemia def: "An abnormally increased potassium concentration in the blood." [HPO:probinson] -synonym: "Elevated serum potassium levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Elevated serum potassium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006947 xref: SNOMEDCT_US:14140009 xref: SNOMEDCT_US:166689004 @@ -20094,7 +20169,7 @@ id: HP:0002154 name: Hyperglycinemia def: "An elevated concentration of glycine in the blood." [HPO:gcarletti, pmid:16902722, pmid:4696900] comment: Normal blood glycine levels are around 200-250 micromole per liter. -synonym: "Elevated blood glycine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Elevated blood glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperglycinaemia" EXACT [] xref: SNOMEDCT_US:64654004 xref: UMLS:C0268559 @@ -20121,7 +20196,7 @@ id: HP:0002156 name: Homocystinuria def: "An increased concentration of homocystine in the urine." [HPO:gcarletti] comment: Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. -synonym: "High urine homocystine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine homocystine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006712 xref: SNOMEDCT_US:11282001 xref: UMLS:C0019880 @@ -20151,7 +20226,7 @@ id: HP:0002160 name: Hyperhomocystinemia def: "An increased concentration of homocystine in the blood." [HPO:gcarletti] comment: Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine).\nHyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. -synonym: "Elevated blood homocystine" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Elevated blood homocystine" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Homocystinemia" EXACT [] xref: UMLS:C3806347 is_a: HP:0010919 ! Abnormality of homocysteine metabolism @@ -20161,7 +20236,7 @@ id: HP:0002161 name: Hyperlysinemia def: "An increased concentration of lysine in the blood." [HPO:gcarletti, pmid:4696900] comment: Normal blood lysine levels are around 180-200 micromole per liter. -synonym: "Elevated blood lysine" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Elevated blood lysine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020167 xref: SNOMEDCT_US:58558003 xref: UMLS:C0268553 @@ -20174,7 +20249,7 @@ name: Low posterior hairline def: "Hair on the neck extends more inferiorly than usual." [pmid:19125436] comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. subset: hposlim_core -synonym: "Low hairline at back of neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Low hairline at back of neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Low posterior hair line" EXACT [] xref: UMLS:C1855728 is_a: HP:0000464 ! Abnormality of the neck @@ -20232,7 +20307,7 @@ is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002168 name: Scanning speech -synonym: "Explosive speech" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Explosive speech" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:102935005 xref: SNOMEDCT_US:77420001 xref: UMLS:C0278184 @@ -20253,7 +20328,7 @@ is_a: HP:0004305 ! Involuntary movements id: HP:0002170 name: Intracranial hemorrhage def: "Hemorrhage occurring within the skull." [HPO:gcarletti] -synonym: "Bleeding within the skull" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bleeding within the skull" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020300 xref: SNOMEDCT_US:1386000 xref: UMLS:C0151699 @@ -20340,7 +20415,7 @@ def: "Abnormal accumulation of fluid in the brain." [HPO:probinson] comment: Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. synonym: "Brain edema" EXACT [] synonym: "Brain oedema" EXACT [] -synonym: "Brain swelling" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Brain swelling" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001929 xref: SNOMEDCT_US:2032001 xref: UMLS:C0006114 @@ -20353,7 +20428,7 @@ id: HP:0002183 name: Phonophobia def: "An abnormally heightened sensitivity to loud sounds." [HPO:probinson] comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. -synonym: "Fear of loud sounds" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fear of loud sounds" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012001 xref: SNOMEDCT_US:313387002 xref: UMLS:C0751466 @@ -20503,7 +20578,7 @@ is_a: HP:0010950 ! Abnormality of the fourth ventricle [Term] id: HP:0002199 name: Hypocalcemic seizures -synonym: "Low calcium seizures" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Low calcium seizures" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Seizures due to hypocalcemia" EXACT [] xref: UMLS:C1855841 is_a: HP:0002901 ! Hypocalcemia @@ -20585,8 +20660,8 @@ alt_id: HP:0200078 def: "Hair shafts are rough in texture." [HPO:probinson] subset: hposlim_core synonym: "Coarse hair" EXACT layperson [] -synonym: "Coarse hair texture" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Rough hair texture" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Coarse hair texture" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Rough hair texture" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:48610005 xref: UMLS:C0277959 xref: UMLS:C4072834 @@ -20619,8 +20694,8 @@ id: HP:0002211 name: White forelock def: "A triangular depigmented region of white hairs located in the anterior midline of the scalp." [DDD:probinson] subset: hposlim_core -synonym: "Poliosis of anterior hair" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Poliosis of forelock hair" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Poliosis of anterior hair" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Poliosis of forelock hair" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:247564004 xref: UMLS:C0344312 is_a: HP:0011365 ! Patchy hypopigmentation of hair @@ -20640,11 +20715,11 @@ alt_id: HP:0200132 def: "Hair that is fine or thin to the touch." [HPO:probinson] subset: hposlim_core synonym: "Fine hair" EXACT layperson [] -synonym: "Fine hair shaft" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Fine hair texture" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fine hair shaft" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Fine hair texture" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin hair" EXACT [] -synonym: "Thin hair shaft" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin hair texture" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin hair shaft" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin hair texture" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thinned hair" EXACT [] xref: SNOMEDCT_US:247546006 xref: UMLS:C0423867 @@ -20657,6 +20732,7 @@ alt_id: HP:0004514 alt_id: HP:0004518 alt_id: HP:0004545 def: "Reduced number or density of axillary hair." [HPO:probinson] +synonym: "Little underarm hair" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Sparse axillary and pubic hair" EXACT [] synonym: "Sparse scalp, axillary, and pubic hair" EXACT [] synonym: "sparse to absent axillary hair" EXACT [] @@ -20689,8 +20765,8 @@ alt_id: HP:0004781 def: "Hair whose growth is slower than normal." [HPO:probinson] subset: hposlim_core synonym: "Slow growing hair" EXACT layperson [] -synonym: "Slow rate of hair growth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Slow speed of hair growth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Slow rate of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Slow speed of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Slow-growing hair" EXACT layperson [] xref: UMLS:C1832348 is_a: HP:0011363 ! Abnormality of hair growth rate @@ -20708,7 +20784,7 @@ is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002219 name: Facial hypertrichosis -synonym: "Increased facial hair growth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased facial hair growth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C565029 xref: UMLS:C1851400 is_a: HP:0000998 ! Hypertrichosis @@ -20735,11 +20811,11 @@ def: "Absence of the eyebrow." [HPO:probinson] subset: hposlim_core synonym: "Absent eyebrow" EXACT layperson [] synonym: "Absent eyebrows" EXACT [] -synonym: "Agenesis of eyebrows" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of eyebrows" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of eyebrows" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Loss of eyebrows" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing eyebrows" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of eyebrows" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of eyebrows" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Loss of eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:253208007 xref: SNOMEDCT_US:422441003 xref: UMLS:C0431448 @@ -20753,9 +20829,9 @@ is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow id: HP:0002224 name: Woolly hair subset: hposlim_core -synonym: "Afro-textured hair" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Kinky hair texture" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Nappy hair texture" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Afro-textured hair" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Kinky hair texture" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Nappy hair texture" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MEDDRA:10048017 "Wooly hair" xref: SNOMEDCT_US:52564001 xref: UMLS:C0343073 @@ -20784,11 +20860,11 @@ alt_id: HP:0002228 alt_id: HP:0004536 def: "White color (lack of pigmentation) of the eyebrow." [HPO:probinson] subset: hposlim_core -synonym: "Blonde eyebrow" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Blonde eyebrow" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Depigmented eyebrow" EXACT [] -synonym: "Grey eyebrow" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Grey eyebrow" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Hypopigmented eyebrow" EXACT [] -synonym: "Pale eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pale eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "White eyebrow" EXACT layperson [] xref: UMLS:C1836737 xref: UMLS:C4280579 @@ -20800,10 +20876,10 @@ is_a: HP:0009887 ! Abnormality of hair pigmentation id: HP:0002227 name: White eyelashes def: "White color (lack of pigmentation) of the eyelashes." [DDD:cmoss] -synonym: "Blonde eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Blonde eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Depigmented eyelashes" EXACT [] -synonym: "Grey eyelashes" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pale eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Grey eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Pale eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "White eyelashes" EXACT layperson [] xref: UMLS:C1836736 xref: UMLS:C4280578 @@ -20866,7 +20942,7 @@ name: Frontal upsweep of hair def: "Upward and/or sideward growth of anterior hair." [pmid:19125436] subset: hposlim_core synonym: "Cowlick" EXACT layperson [] -synonym: "Frontal Cowlick" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Frontal Cowlick" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Frontal upsweep of hair" EXACT layperson [] synonym: "Upswept frontal hair" EXACT layperson [] synonym: "Upswept frontal hair pattern" RELATED layperson [HPO:skoehler] @@ -20899,12 +20975,12 @@ synonym: "Enlarged liver" EXACT layperson [] xref: MSH:D006529 xref: SNOMEDCT_US:80515008 xref: UMLS:C0019209 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0003271 ! Visceromegaly +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0002242 -name: Abnormality of the intestine +name: Abnormal intestine morphology alt_id: HP:0002628 def: "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." [HPO:probinson] synonym: "Abnormality of the intestine" EXACT layperson [] @@ -20930,7 +21006,7 @@ id: HP:0002244 name: Abnormality of the small intestine def: "An abnormality of the small intestine." [HPO:probinson] xref: UMLS:C4025717 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002245 @@ -20956,6 +21032,7 @@ id: HP:0002247 name: Duodenal atresia def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:probinson] subset: hposlim_core +xref: Fyler:4406 xref: MEDDRA:10013812 "Duodenal atresia" xref: MSH:C535720 xref: SNOMEDCT_US:51118003 @@ -20968,7 +21045,7 @@ id: HP:0002248 name: Hematemesis def: "The vomiting of blood." [HPO:probinson] comment: The source of hematemesis is generally the upper gastrointestinal tract. -synonym: "Vomitting blood" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Vomitting blood" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006396 xref: SNOMEDCT_US:8765009 xref: UMLS:C0018926 @@ -20978,7 +21055,7 @@ is_a: HP:0002239 ! Gastrointestinal hemorrhage id: HP:0002249 name: Melena def: "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [HPO:probinson] -synonym: "Black feces" NARROW layperson [orcid.org/0000-0001-6908-9849] +synonym: "Black feces" NARROW layperson [ORCID:0000-0001-6908-9849] xref: MSH:D008551 xref: SNOMEDCT_US:249627005 xref: SNOMEDCT_US:267055007 @@ -20997,7 +21074,7 @@ def: "Any abnormality of the large intestine." [HPO:probinson] comment: The large intestine comprises the cecum and colon. synonym: "Abnormality of the large intestine" EXACT layperson [] xref: UMLS:C4025715 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002251 @@ -21088,8 +21165,8 @@ is_a: HP:0000400 ! Macrotia [Term] id: HP:0002266 name: Focal clonic seizures -synonym: "Localized clonic seizure" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Partial clonic seizure" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Localized clonic seizure" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Partial clonic seizure" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D020938 xref: UMLS:C0752323 is_a: HP:0011153 ! Focal motor seizures @@ -21174,7 +21251,7 @@ alt_id: HP:0000596 def: "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection." [HPO:probinson] comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. synonym: "Horner's syndrome" EXACT [] -synonym: "Oculosympathetic palsy" EXACT [http://orcid.org/0000-0001-5208-3432] +synonym: "Oculosympathetic palsy" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D006732 xref: SNOMEDCT_US:12731000 xref: SNOMEDCT_US:192915005 @@ -21223,7 +21300,7 @@ def: "Unlocalized atrophy of the brain with decreased total brain matter volume comment: Global brain atrophy can be visualized and quantified by magnetic resonance imaging. synonym: "Diffuse brain atrophy" EXACT [] synonym: "Generalized brain atrophy" EXACT [] -synonym: "Generalized brain degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Generalized brain degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Generalized cerebral atrophy" EXACT [] xref: UMLS:C0241816 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system @@ -21238,12 +21315,12 @@ def: "A lesser degree of hair pigmentation than would otherwise be expected." [D comment: For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. synonym: "Blond hair" EXACT layperson [] synonym: "Fair hair" EXACT layperson [] -synonym: "Fair hair color" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flaxen hair color" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Light colored hair" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Sandy hair color" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Straw colored hair" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Towhead (hair color)" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fair hair color" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Flaxen hair color" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Light colored hair" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Sandy hair color" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Straw colored hair" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Towhead (hair color)" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:297995004 xref: UMLS:C0239801 xref: UMLS:C1849221 @@ -21284,7 +21361,7 @@ name: Frontal balding def: "Absence of hair in the anterior midline and/or parietal areas." [pmid:19125436] subset: hposlim_core synonym: "Frontal balding" EXACT layperson [] -synonym: "Male pattern baldness" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Male pattern baldness" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D000505 xref: SNOMEDCT_US:87872006 xref: UMLS:C1864584 @@ -21295,11 +21372,11 @@ is_a: HP:0011360 ! Acquired abnormal hair pattern id: HP:0002293 name: Alopecia of scalp alt_id: HP:0200115 -synonym: "Absence of scalp hair" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Baldness" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing scalp hair" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pathologic hair loss from scalp" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Scalp hair loss" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of scalp hair" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Baldness" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing scalp hair" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Pathologic hair loss from scalp" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Scalp hair loss" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D000505 xref: SNOMEDCT_US:278040002 xref: SNOMEDCT_US:298000004 @@ -21320,10 +21397,10 @@ is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0002297 name: Red hair -synonym: "Ginger hair color" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Ginger hair color" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Red hair" EXACT layperson [] -synonym: "Red hair color" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Red head (hair color)" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Red hair color" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Red head (hair color)" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:297997007 xref: UMLS:C0239803 is_a: HP:0009887 ! Abnormality of hair pigmentation @@ -21343,10 +21420,10 @@ name: Brittle hair def: "Fragile, easily breakable hair, i.e., with reduced tensile strength." [DDD:cmoss] comment: Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). synonym: "Brittle hair" EXACT layperson [] -synonym: "Easily breakable hair" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Fractured hair" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Fragile hair" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Reduced tensile strength of hair" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Easily breakable hair" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Fractured hair" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Fragile hair" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Reduced tensile strength of hair" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:25159003 xref: UMLS:C0263490 xref: UMLS:C1851868 @@ -21357,8 +21434,8 @@ is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002300 name: Mutism -synonym: "Inability to speak" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Muteness" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Inability to speak" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Muteness" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009155 xref: SNOMEDCT_US:88052002 xref: UMLS:C0026884 @@ -21495,7 +21572,7 @@ is_a: HP:0012638 ! Abnormality of nervous system physiology id: HP:0002317 name: Unsteady gait synonym: "Gait instability" EXACT [] -synonym: "Unsteady walk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Unsteady walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:22631008 xref: SNOMEDCT_US:394616008 @@ -21542,6 +21619,7 @@ is_a: HP:0001337 ! Tremor [Term] id: HP:0002323 name: Anencephaly +xref: Fyler:4332 xref: MSH:D000757 xref: SNOMEDCT_US:89369001 xref: UMLS:C0002902 @@ -21551,7 +21629,7 @@ is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum id: HP:0002324 name: Hydranencephaly def: "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue." [HPO:probinson] -synonym: "Hydrancephaly" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Hydrancephaly" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D006832 xref: SNOMEDCT_US:30023002 xref: UMLS:C0020225 @@ -21560,7 +21638,7 @@ is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002326 name: Transient ischemic attack -synonym: "Mini stroke" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Mini stroke" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "TIA" EXACT HP:0045077 [HPO:skoehler] synonym: "Transient ischemic attacks" EXACT [] xref: MSH:D002546 @@ -21573,7 +21651,7 @@ id: HP:0002329 name: Drowsiness def: "Excessive daytime sleepiness." [HPO:probinson] synonym: "Drowsiness" EXACT layperson [] -synonym: "Sleepy" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Sleepy" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012894 xref: SNOMEDCT_US:271782001 xref: SNOMEDCT_US:79519003 @@ -21590,7 +21668,7 @@ is_a: HP:0002329 ! Drowsiness [Term] id: HP:0002331 name: Recurrent paroxysmal headache -def: "Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality." [] {comment="HPO:probinson"} +def: "Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality." [HPO:probinson] xref: UMLS:C1854337 is_a: HP:0002315 ! Headache @@ -21605,7 +21683,7 @@ is_a: HP:0000735 ! Impaired social interactions id: HP:0002333 name: Motor deterioration def: "Loss of previously present motor (i.e., movement) abilities." [HPO:probinson] -synonym: "Progressive degeneration of movement" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Progressive degeneration of movement" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866284 is_a: HP:0001268 ! Mental deterioration @@ -21640,7 +21718,7 @@ is_a: HP:0010994 ! Abnormality of the striatum [Term] id: HP:0002340 name: Caudate atrophy -synonym: "Caudate degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Caudate degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1858116 is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus @@ -21817,7 +21895,7 @@ is_a: HP:0004302 ! Functional motor deficit id: HP:0002360 name: Sleep disturbance def: "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] -synonym: "Difficulty sleeping" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Difficulty sleeping" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sleep disturbances" EXACT [HPO:skoehler] synonym: "Sleep dysfunction" EXACT [] synonym: "Trouble sleeping" EXACT layperson [] @@ -21836,7 +21914,7 @@ is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002362 name: Shuffling gait -synonym: "Shuffled walk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shuffled walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:43005009 xref: UMLS:C0231688 @@ -21846,7 +21924,7 @@ is_a: HP:0001288 ! Gait disturbance id: HP:0002363 name: Abnormality of brainstem morphology def: "An anomaly of the brainstem." [HPO:probinson] -synonym: "Abnormal shape of brainstem" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of brainstem" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the brainstem" EXACT [] xref: UMLS:C1850601 is_a: HP:0012443 ! Abnormality of brain morphology @@ -21860,7 +21938,7 @@ synonym: "Brainstem hypoplasia" EXACT [] synonym: "Hypoplastic brain stem" EXACT [] synonym: "Hypoplastic brainstem" EXACT [] synonym: "Small brainstem" EXACT layperson [] -synonym: "Underdeveloped brainstem" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped brainstem" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1842688 is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem @@ -21914,7 +21992,7 @@ alt_id: HP:0002175 alt_id: HP:0007102 def: "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] synonym: "Febrile convulsions" EXACT [] -synonym: "Fever induced seizures" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fever induced seizures" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Seizures, febrile, in early childhood" EXACT [] synonym: "Seizures, generalized, associated with fever" EXACT [] xref: MSH:D003294 @@ -21935,7 +22013,7 @@ name: Hypokinesia alt_id: HP:0002603 alt_id: HP:0006795 def: "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [HPO:probinson] -synonym: "Decreased muscle movement" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Decreased muscle movement" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Decreased spontaneous movement" EXACT layperson [] synonym: "Decreased spontaneous movements" EXACT layperson [] xref: MSH:D018476 @@ -22000,7 +22078,7 @@ def: "Fasciculations are observed as small, local, involuntary muscle contractio comment: This finding can be visible clinically and can be demonstrated by electromyography (EMG). synonym: "Fasciculation" EXACT [] synonym: "Muscle fasciculation" EXACT [] -synonym: "Muscle twitch" EXACT layperson [https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm, orcid.org/0000-0001-6908-9849] +synonym: "Muscle twitch" EXACT layperson [https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm, ORCID:0000-0001-6908-9849] xref: MSH:D005207 xref: SNOMEDCT_US:82470000 xref: UMLS:C0015644 @@ -22022,7 +22100,7 @@ is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002383 name: Encephalitis -synonym: "Brain inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Brain inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004660 xref: SNOMEDCT_US:45170000 xref: UMLS:C0014038 @@ -22090,7 +22168,7 @@ synonym: "Hyperreflexia in lower limbs" EXACT [] synonym: "Hyperreflexia in the lower limbs" EXACT [] synonym: "Increased deep tendon reflexes in the lower limbs" EXACT [] synonym: "Leg hyperreflexia" EXACT [] -synonym: "Overactive lower leg reflex" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Overactive lower leg reflex" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1836696 is_a: HP:0001347 ! Hyperreflexia @@ -22149,7 +22227,7 @@ is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle id: HP:0002406 name: Limb dysmetria def: "A type of dysmetria involving the limbs." [HPO:probinson] -synonym: "Uncoordinated limb movement" NARROW layperson [orcid.org/0000-0001-6908-9849] +synonym: "Uncoordinated limb movement" NARROW layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1854489 xref: UMLS:C4280577 is_a: HP:0001310 ! Dysmetria @@ -22159,6 +22237,7 @@ id: HP:0002408 name: Cerebral arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain." [] synonym: "Cerebral AV malformation" EXACT HP:0045077 [] +xref: Fyler:2201 xref: MSH:D002538 xref: SNOMEDCT_US:234142008 xref: UMLS:C0917804 @@ -22189,7 +22268,8 @@ is_a: HP:0100022 ! Abnormality of movement id: HP:0002414 name: Spina bifida def: "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." [HPO:probinson] -synonym: "Split spine" BROAD layperson [http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel, orcid.org/0000-0001-5208-3432] +synonym: "Split spine" BROAD layperson [http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel, ORCID:0000-0001-5208-3432] +xref: Fyler:4157 xref: MSH:D016135 xref: SNOMEDCT_US:67531005 xref: UMLS:C0080178 @@ -22200,7 +22280,7 @@ id: HP:0002415 name: Leukodystrophy def: "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes." [HPO:probinson] comment: The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. -synonym: "Degeneration of white matter of brain" EXACT [http://orcid.org/0000-0001-5208-3432, https://en.wikipedia.org/wiki/leukodystrophy] +synonym: "Degeneration of white matter of brain" EXACT [https://en.wikipedia.org/wiki/leukodystrophy, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:192781003 xref: UMLS:C0023520 is_a: HP:0011400 ! Abnormal CNS myelination @@ -22208,7 +22288,7 @@ is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0002416 name: Subependymal cysts -def: "Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life." [] {comment="HPO:probinson", comment="PMID:12423490"} +def: "Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life." [HPO:probinson, PMID:12423490] comment: In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular. xref: UMLS:C1833431 is_a: HP:0002118 ! Abnormality of the cerebral ventricles @@ -22218,7 +22298,7 @@ is_a: HP:0010576 ! Intracranial cystic lesion id: HP:0002418 name: Abnormality of midbrain morphology def: "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct." [HPO:probinson] -synonym: "Abnormal shape of midbrain" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of midbrain" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the mesencephalon" EXACT [] synonym: "Abnormality of the midbrain" EXACT layperson [] xref: UMLS:C4021755 @@ -22255,7 +22335,7 @@ is_a: HP:0002143 ! Abnormality of the spinal cord id: HP:0002425 name: Anarthria def: "A defect in the motor ability that enables speech." [HPO:curators] -synonym: "Loss of articulate speech" EXACT layperson [http://dictionary.reference.com/browse/anarthria, orcid.org/0000-0001-5208-3432] +synonym: "Loss of articulate speech" EXACT layperson [http://dictionary.reference.com/browse/anarthria, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:48257004 xref: UMLS:C0234517 is_a: HP:0002167 ! Neurological speech impairment @@ -22264,9 +22344,9 @@ is_a: HP:0002167 ! Neurological speech impairment id: HP:0002427 name: Motor aphasia def: "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it." [HPO:probinson] -synonym: "Broca's aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, orcid.org/0000-0001-5208-3432] -synonym: "Expressive aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, orcid.org/0000-0001-5208-3432] -synonym: "Loss of expressive speech" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broca's aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, ORCID:0000-0001-5208-3432] +synonym: "Expressive aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, ORCID:0000-0001-5208-3432] +synonym: "Loss of expressive speech" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001039 xref: SNOMEDCT_US:229654003 xref: SNOMEDCT_US:229665008 @@ -22309,7 +22389,7 @@ is_a: HP:0000726 ! Dementia id: HP:0002442 name: Dyscalculia def: "A specific learning disability involving mathematics and arithmetic." [DDD:probinson] -synonym: "Difficulty making arithmetical calculations" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Difficulty making arithmetical calculations" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:47916000 xref: UMLS:C1411876 xref: UMLS:C4280576 @@ -22331,7 +22411,7 @@ id: HP:0002445 name: Tetraplegia alt_id: HP:0010552 def: "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord." [HPO:probinson] -synonym: "Paralysis of all four limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Paralysis of all four limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Quadriplegia" EXACT [] xref: MSH:D011782 xref: SNOMEDCT_US:11538006 @@ -22342,7 +22422,7 @@ is_a: HP:0030182 ! Tetraplegia/tetraparesis id: HP:0002446 name: Astrocytosis def: "Proliferation of astrocytes in the area of a lesion of the central nervous system." [HPO:probinson] -synonym: "Increase in astrocyte number" BROAD [orcid.org/0000-0001-5208-3432] +synonym: "Increase in astrocyte number" BROAD [ORCID:0000-0001-5208-3432] xref: MSH:D005911 xref: SNOMEDCT_US:81415000 xref: UMLS:C3887640 @@ -22351,7 +22431,7 @@ is_a: HP:0100705 ! Abnormality of the glial cells [Term] id: HP:0002448 name: Progressive encephalopathy -synonym: "Progressive brain disease" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Progressive brain disease" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1838578 xref: UMLS:C4280575 is_a: HP:0001298 ! Encephalopathy @@ -22360,7 +22440,7 @@ is_a: HP:0001298 ! Encephalopathy id: HP:0002450 name: Abnormal motor neuron morphology def: "Any structural anomal that affects the motor neuron." [] -synonym: "Abnormal shape of motor neuron" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of motor neuron" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025707 is_a: HP:0012757 ! Abnormal neuron morphology @@ -22430,7 +22510,7 @@ synonym: "Distal paresis" EXACT [] synonym: "Muscle weakness, distal" EXACT [] synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT [] synonym: "Weakness of distal muscles" EXACT [] -synonym: "Weakness of outermost muscles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Weakness of outermost muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:249942005 xref: UMLS:C0427065 xref: UMLS:C1864696 @@ -22456,7 +22536,7 @@ is_a: HP:0011446 ! Abnormality of higher mental function id: HP:0002464 name: Spastic dysarthria def: "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality." [HPO:probinson] -synonym: "Rigid dysarthria" EXACT [http://medical-dictionary.thefreedictionary.com/spastic+dysarthria, http://orcid.org/0000-0001-5208-3432] +synonym: "Rigid dysarthria" EXACT [http://medical-dictionary.thefreedictionary.com/spastic+dysarthria, ORCID:0000-0001-5208-3432] xref: MSH:D004401 xref: SNOMEDCT_US:229684006 xref: UMLS:C0454596 @@ -22468,7 +22548,7 @@ id: HP:0002465 name: Poor speech synonym: "Difficulty speaking" RELATED layperson [] synonym: "Poor speech" EXACT layperson [] -synonym: "Problems speaking" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Problems speaking" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848207 xref: UMLS:C4280574 is_a: HP:0002167 ! Neurological speech impairment @@ -22494,7 +22574,7 @@ id: HP:0002474 name: Expressive language delay alt_id: HP:0007192 def: "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [HPO:probinson] -synonym: "Communication delay" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Communication delay" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Deficit in expressive language" EXACT [] xref: SNOMEDCT_US:229734008 xref: UMLS:C0454641 @@ -22509,6 +22589,7 @@ def: "Protrusion of the meninges and portions of the spinal cord through a defec comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. synonym: "Meningomyelocele" EXACT [] synonym: "Spina bifida cystica" EXACT [HPO:sdoelken] +xref: Fyler:4309 xref: MSH:D008591 xref: SNOMEDCT_US:203994003 xref: SNOMEDCT_US:414667000 @@ -22518,7 +22599,7 @@ is_a: HP:0002435 ! Meningocele [Term] id: HP:0002476 name: Primitive reflex -def: "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [] {comment="PMID:12700289"} +def: "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [PMID:12700289] synonym: "Primitive reflexes" EXACT [] xref: UMLS:C1838319 is_a: HP:0100022 ! Abnormality of movement @@ -22565,7 +22646,7 @@ id: HP:0002487 name: Hyperkinesis def: "Motor hyperactivity with excessive movement of muscles of the body as a whole." [HPO:probinson] synonym: "Hyperkinesia" EXACT [] -synonym: "Muscle spasms" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Muscle spasms" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006948 xref: MSH:D013035 xref: SNOMEDCT_US:44548000 @@ -22578,7 +22659,7 @@ is_a: HP:0100022 ! Abnormality of movement id: HP:0002488 name: Acute leukemia def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300] -synonym: "Acute blood cancer" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Acute blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Acute leukemias" EXACT [] xref: SNOMEDCT_US:24072005 xref: SNOMEDCT_US:91855006 @@ -22603,8 +22684,8 @@ name: Spasticity of facial muscles alt_id: HP:0000313 def: "Spasticity of one or more muscles innervated by the facial nerve." [] comment: Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort. -synonym: "Increased stiffness of facial muscles" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased tone of facial muscles" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased stiffness of facial muscles" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased tone of facial muscles" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Spasticity of the facial muscles" EXACT [] xref: UMLS:C1853404 xref: UMLS:C4280570 @@ -22804,7 +22885,7 @@ is_a: HP:0010766 ! Ectopic calcification id: HP:0002515 name: Waddling gait synonym: "'Waddling' gait" EXACT layperson [] -synonym: "Waddling walk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Waddling walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:271706000 xref: UMLS:C0231712 @@ -23082,8 +23163,9 @@ synonym: "accessory mamilla" EXACT [] synonym: "accessory mamillas" RELATED [] synonym: "Accessory nipple" EXACT layperson [] synonym: "Accessory nipples" RELATED layperson [] -synonym: "Increased nipple number" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Increased nipple number" EXACT [ORCID:0000-0001-5208-3432] synonym: "Supernumerary nipples" RELATED [] +xref: Fyler:4234 xref: MSH:C562557 xref: SNOMEDCT_US:50956007 xref: UMLS:C0266011 @@ -23139,7 +23221,7 @@ xref: SNOMEDCT_US:253789002 xref: SNOMEDCT_US:29980002 xref: SNOMEDCT_US:48641006 xref: UMLS:C0221210 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002570 @@ -23205,12 +23287,13 @@ id: HP:0002575 name: Tracheoesophageal fistula def: "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson] subset: hposlim_core +xref: Fyler:4202 xref: MEDDRA:10044310 "Tracheo-oesophageal fistula" xref: MSH:D014138 xref: SNOMEDCT_US:95435007 xref: UMLS:C0040588 is_a: HP:0002031 ! Abnormality of esophagus morphology -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0002576 @@ -23223,7 +23306,7 @@ xref: MSH:D007443 xref: SNOMEDCT_US:35327006 xref: SNOMEDCT_US:49723003 xref: UMLS:C0021933 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002577 @@ -23238,7 +23321,7 @@ id: HP:0002578 name: Gastroparesis def: "Decreased strength of the Muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction." [HPO:probinson] subset: hposlim_core -synonym: "Delayed gastric emptying" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Delayed gastric emptying" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D018589 xref: SNOMEDCT_US:196753007 xref: SNOMEDCT_US:235675006 @@ -23263,7 +23346,7 @@ xref: MSH:D045822 xref: SNOMEDCT_US:90738007 xref: SNOMEDCT_US:9707006 xref: UMLS:C0042961 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002582 @@ -23293,7 +23376,7 @@ synonym: "Intestinal hemorrhage" EXACT [] xref: SNOMEDCT_US:712510007 xref: UMLS:C0267373 is_a: HP:0002239 ! Gastrointestinal hemorrhage -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002585 @@ -23388,7 +23471,7 @@ def: "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in th xref: MSH:D008201 xref: SNOMEDCT_US:197260007 xref: UMLS:C0024215 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002594 @@ -23397,7 +23480,7 @@ alt_id: HP:0005221 def: "Hypoplasia of the pancreas." [HPO:probinson] comment: Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. synonym: "Hypoplastic pancreas" EXACT [] -synonym: "Underdeveloped pancreas" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:68591005 xref: UMLS:C0266267 is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas @@ -23407,7 +23490,7 @@ id: HP:0002595 name: Ileus def: "Acute obstruction of the intestines preventing passage of the contents of the intestines." [HPO:sdoelken] subset: hposlim_core -synonym: "Gastrointestinal atony" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Gastrointestinal atony" EXACT [ORCID:0000-0001-5208-3432] xref: MEDDRA:10021328 "Ileus" xref: MSH:D045823 xref: UMLS:C1258215 @@ -23418,7 +23501,7 @@ is_a: HP:0005214 ! Intestinal obstruction id: HP:0002597 name: Abnormality of the vasculature def: "An abnormality of the vasculature." [HPO:probinson] -synonym: "Abnormality of blood vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the vasculature" EXACT layperson [] synonym: "Vascular abnormalities" EXACT layperson [] xref: UMLS:C0241657 @@ -23460,6 +23543,7 @@ id: HP:0002604 name: Gastrointestinal telangiectasia def: "Telangiectasia affecting thegastrointestinal tract." [HPO:probinson] comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. +synonym: "Small, enlarged blood vessels near skin" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1619711 is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100579 ! Mucosal telangiectasiae @@ -23470,7 +23554,7 @@ name: Hepatic necrosis def: "The presence of necrosis affecting the liver." [HPO:probinson] xref: SNOMEDCT_US:87248009 xref: UMLS:C0151798 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2008-02-20T11:32:00Z @@ -23481,7 +23565,7 @@ alt_id: HP:0007147 def: "Involuntary fecal soiling in adults and children who have usually already been toilet trained." [HPO:sdoelken] synonym: "Anal incontinence" EXACT [] synonym: "Fecal incontinence" EXACT [] -synonym: "Loss of bowel control" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Loss of bowel control" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005242 xref: SNOMEDCT_US:72042002 xref: UMLS:C0015732 @@ -23567,9 +23651,10 @@ name: Dilatation def: "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm" NARROW layperson [] -synonym: "Aneurysmal dilatation" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Aneurysmal dilatation" EXACT [ORCID:0000-0001-5208-3432] synonym: "Aneurysmal disease" RELATED layperson [] synonym: "Aneurysms" NARROW layperson [HPO:skoehler] +xref: Fyler:2399 xref: MSH:D000783 xref: SNOMEDCT_US:432119003 xref: SNOMEDCT_US:85659009 @@ -23593,8 +23678,8 @@ id: HP:0002621 name: Atherosclerosis def: "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:probinson] comment: Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. -synonym: "Atherosclerotic cardiovascular disease" EXACT [http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel, orcid.org/0000-0001-5208-3432] -synonym: "Plaque build-up in arteries" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Atherosclerotic cardiovascular disease" EXACT [http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel, ORCID:0000-0001-5208-3432] +synonym: "Plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D050197 xref: SNOMEDCT_US:38716007 xref: UMLS:C0004153 @@ -23605,6 +23690,7 @@ is_a: HP:0002634 ! Arteriosclerosis id: HP:0002622 name: obsolete Dissecting aortic dilatation is_obsolete: true +replaced_by: HP:0002647 [Term] id: HP:0002623 @@ -23612,6 +23698,7 @@ name: Overriding aorta def: "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [HPO:curators] synonym: "Dextroposition of aorta" EXACT [] synonym: "Overriding aortic valve" EXACT [] +xref: Fyler:1432 xref: SNOMEDCT_US:63934006 xref: UMLS:C0011818 xref: UMLS:C0265886 @@ -23621,7 +23708,7 @@ is_a: HP:0001679 ! Abnormal aortic morphology id: HP:0002624 name: Abnormal venous morphology def: "An anomaly of vein." [HPO:probinson] -synonym: "Abnormal vein" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal vein" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Venous abnormality" EXACT [] xref: UMLS:C0241665 is_a: HP:0025015 ! Abnormal vascular morphology @@ -23630,7 +23717,7 @@ is_a: HP:0025015 ! Abnormal vascular morphology id: HP:0002625 name: Deep venous thrombosis def: "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected." [HPO:probinson] -synonym: "Blood clot in a deep vein" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Blood clot in a deep vein" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Deep vein thrombosis" EXACT [] synonym: "Multiple deep venous thrombosis" EXACT [] xref: MSH:D020246 @@ -23686,7 +23773,7 @@ is_a: HP:0002615 ! Hypotension id: HP:0002633 name: Vasculitis def: "Inflammation of blood vessel." [HPO:probinson] -synonym: "Angiitis" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Angiitis" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D014657 xref: SNOMEDCT_US:31996006 xref: UMLS:C0042384 @@ -23697,7 +23784,7 @@ id: HP:0002634 name: Arteriosclerosis def: "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity." [HPO:probinson] comment: Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. -synonym: "Hardened artery wall" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hardened artery wall" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001161 xref: SNOMEDCT_US:107671003 xref: SNOMEDCT_US:28960008 @@ -23729,8 +23816,8 @@ is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0002637 name: Cerebral ischemia -synonym: "Brain ischemia" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Cerebrovascular ischemia" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Brain ischemia" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Cerebrovascular ischemia" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D002545 xref: SNOMEDCT_US:287731003 xref: SNOMEDCT_US:389100007 @@ -23766,7 +23853,7 @@ is_a: HP:0000822 ! Hypertension [Term] id: HP:0002641 name: Peripheral thrombosis -synonym: "Peripheral blood clot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Peripheral blood clot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849749 is_a: HP:0001977 ! Abnormal thrombosis @@ -23792,7 +23879,7 @@ is_a: HP:0002093 ! Respiratory insufficiency id: HP:0002644 name: Abnormality of pelvic girdle bone morphology def: "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs." [HPO:probinson] -synonym: "Abnormal shape of pelvic girdle bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of pelvic girdle bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the pelvic girdle" RELATED [] xref: UMLS:C4020847 is_a: HP:0011844 ! Abnormal appendicular skeleton morphology @@ -23803,10 +23890,10 @@ name: Wormian bones def: "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium." [HPO:probinson] comment: Irregular, solated bones in the lambdoidal suture or at the fontanelles. subset: hposlim_core -synonym: "Extra bones within cranial sutures" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Intra sutural bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Intrasutural bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Islands of bone within cranial sutures" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Extra bones within cranial sutures" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Intra sutural bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Intrasutural bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Islands of bone within cranial sutures" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:113194005 xref: UMLS:C0222716 is_a: HP:0011329 ! Abnormality of cranial sutures @@ -23824,12 +23911,12 @@ is_a: HP:0001679 ! Abnormal aortic morphology id: HP:0002648 name: Abnormality of calvarial morphology def: "The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain." [DDD:awilkie, HPO:probinson] -synonym: "Abnormality of cranial bone morphology" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of skull bone morphology" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the shape of calvarium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the shape of cranium" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the shape of skull bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormally shaped skull" EXACT layperson [orcid.org/0000-0002-9353-5498] +synonym: "Abnormality of cranial bone morphology" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of skull bone morphology" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the shape of calvarium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the shape of cranium" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the shape of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormally shaped skull" EXACT layperson [ORCID:0000-0002-9353-5498] xref: UMLS:C4025692 xref: UMLS:C4280260 is_a: HP:0002683 ! Abnormality of the calvaria @@ -23843,8 +23930,10 @@ alt_id: HP:0003317 alt_id: HP:0003415 def: "The presence of an abnormal lateral curvature of the spine." [HPO:probinson] subset: hposlim_core -synonym: "Curvature of spine" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved spine" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal curving of the spine" EXACT layperson [ORCID:0000-0002-6548-5200] +synonym: "Curvature of spine" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved spine" BROAD layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:4160 xref: MSH:D013121 xref: SNOMEDCT_US:111266001 xref: SNOMEDCT_US:64217002 @@ -23865,7 +23954,7 @@ name: Skeletal dysplasia alt_id: HP:0005685 def: "A general term describing features characterized by abnormal development of bones and connective tissues." [HPO:probinson] comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of a congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. -synonym: "Abnormal skeletal development" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal skeletal development" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010009 xref: SNOMEDCT_US:105985007 xref: SNOMEDCT_US:240190009 @@ -23905,7 +23994,7 @@ is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002656 name: Epiphyseal dysplasia -synonym: "Abnormal development of end part of bone" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal development of end part of bone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:254080004 xref: UMLS:C0392476 xref: UMLS:C4280566 @@ -23953,7 +24042,7 @@ id: HP:0002663 name: Delayed epiphyseal ossification alt_id: HP:0005862 synonym: "Delayed epiphyseal maturation" EXACT [] -synonym: "Delayed maturation of end part of long bone" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed maturation of end part of long bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed opacification of the epiphyses" EXACT [] synonym: "Detailed epiphyseal ossification" EXACT [] synonym: "Epiphyseal ossification delay" EXACT [] @@ -23998,7 +24087,7 @@ is_a: HP:0004377 ! Hematological neoplasm id: HP:0002666 name: Pheochromocytoma def: "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:probinson] -synonym: "Chromaffin tumors" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Chromaffin tumors" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D010673 xref: SNOMEDCT_US:302835009 xref: SNOMEDCT_US:399343007 @@ -24091,11 +24180,11 @@ alt_id: HP:0005459 def: "Trilobar skull configuration when viewed from the front or behind." [pmid:19125436] comment: A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. subset: hposlim_core -synonym: "Cloverleaf cranium shape" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Cloverleaf skull shape" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cloverleaf cranium shape" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Cloverleaf skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Kleeblattschaedel" EXACT [] -synonym: "Trilobar cranium shape" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Trilobar skull shape" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Trilobar cranium shape" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Trilobar skull shape" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C1860050 xref: UMLS:C4280564 is_a: HP:0002648 ! Abnormality of calvarial morphology @@ -24108,10 +24197,10 @@ def: "An abnormal narrowing of the foramen magnum." [HPO:probinson] comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord. subset: hposlim_core synonym: "Foramen magnum stenosis" EXACT [] -synonym: "Hypoplasia of foramen magnum" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Little foramen magnum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Narrow foramen magnum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Stenosis of foramen magnum" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Hypoplasia of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Little foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Narrow foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Stenosis of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:444879009 xref: UMLS:C1535953 xref: UMLS:C1861217 @@ -24121,12 +24210,12 @@ is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002678 name: Skull asymmetry -synonym: "Abnormality of skull shape" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Asymmetry of skull" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of skull shape" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Asymmetry of skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of skull shape" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Skull asymmetry" EXACT layperson [] -synonym: "Unequal skull shape" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven skull shape" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Unequal skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248372000 xref: UMLS:C0424690 xref: UMLS:C4280562 @@ -24138,11 +24227,11 @@ id: HP:0002679 name: Abnormality of the sella turcica def: "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of the hypophysial fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the pituitary fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the hypophysial fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the pituitary fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the sella turcica" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the sella turcica" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021754 xref: UMLS:C4072839 is_a: HP:0000929 ! Abnormality of the skull @@ -24152,15 +24241,15 @@ id: HP:0002680 name: J-shaped sella turcica def: "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [HPO:pnrobinson] subset: hposlim_core -synonym: "Hour glass shaped hypophysial fossa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hour glass shaped pituitary fossa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hour glass shaped sella turcica" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "J-shaped hypophysial fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "J-shaped pituitary fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "J-shaped sella" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Omega shaped hypophysial fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Omega shaped pituitary fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Omega shaped sella turcica" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hour glass shaped hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hour glass shaped pituitary fossa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hour glass shaped sella turcica" EXACT [ORCID:0000-0001-5889-4463] +synonym: "J-shaped hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "J-shaped pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "J-shaped sella" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Omega shaped hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Omega shaped pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Omega shaped sella turcica" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1854718 xref: UMLS:C4072841 xref: UMLS:C4072842 @@ -24169,14 +24258,14 @@ is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0002681 name: Deformed sella turcica -synonym: "Abnormal shape of hypophysial fossa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal shape of pituitary fossa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal shape of sella turcica" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of hypophysial fossa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of pituitary fossa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of hypophysial fossa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of pituitary fossa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of sella turcica" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal shape of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormal shape of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormal shape of sella turcica" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Malformation of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Malformation of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Malformation of sella turcica" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1846437 is_a: HP:0002679 ! Abnormality of the sella turcica @@ -24184,12 +24273,12 @@ is_a: HP:0002679 ! Abnormality of the sella turcica id: HP:0002682 name: Broad skull def: "Increased width of the skull." [HPO:probinson] -synonym: "Broad cranium" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Broad cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Broad skull" EXACT layperson [] -synonym: "Increased width of cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of skull" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Wide skull" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased width of cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased width of skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Wide skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248374004 xref: UMLS:C0424693 is_a: HP:0002648 ! Abnormality of calvarial morphology @@ -24199,11 +24288,11 @@ id: HP:0002683 name: Abnormality of the calvaria def: "Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." [HPO:probinson] comment: The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. -synonym: "Abnormality of calvarium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of cranial vault" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of cranium" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the skull cap" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the skullcap" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of calvarium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of cranial vault" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of cranium" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the skull cap" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the skullcap" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025691 xref: UMLS:C4280561 is_a: HP:0000929 ! Abnormality of the skull @@ -24215,18 +24304,18 @@ def: "The presence of an abnormally thick calvaria." [HPO:curators] synonym: "Calvarial thickening" EXACT [] synonym: "Calvarium thickened" EXACT [] synonym: "Increased calvarial thickness" EXACT [] -synonym: "Increased thickness of calvaria" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased thickness of calvarium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased thickness of cranial vault" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased thickness of cranium" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased thickness of skull cap" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased thickness of calvaria" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased thickness of calvarium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased thickness of cranial vault" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased thickness of cranium" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased thickness of skull cap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick calvaria" EXACT [] synonym: "Thick calvarium" EXACT [] synonym: "Thickened calcaria" EXACT [] synonym: "Thickened calvarium" EXACT [] synonym: "Thickened cranial vault" EXACT [] synonym: "Thickened cranium" EXACT [] -synonym: "Thickened skull cap" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thickened skull cap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thickening of the calvaria" EXACT [] xref: UMLS:C1858452 xref: UMLS:C4280560 @@ -24242,9 +24331,9 @@ is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0002687 name: Abnormality of frontal sinus -def: "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone." [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of sinus frontalis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the forehead sinus" EXACT layperson [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone." [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of sinus frontalis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the forehead sinus" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025689 is_a: HP:0000245 ! Abnormality of the paranasal sinuses @@ -24257,9 +24346,9 @@ def: "Aplasia of frontal sinus." [HPO:probinson] subset: hposlim_core synonym: "Absence of frontal sinuses" EXACT [] synonym: "Absent frontal sinus" EXACT [] -synonym: "Aplasia of frontal sinus" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia sinus frontalis" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Missing frontal sinus" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Aplasia of frontal sinus" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Aplasia sinus frontalis" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Missing frontal sinus" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1855669 xref: UMLS:C4280559 is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses @@ -24268,10 +24357,10 @@ is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses id: HP:0002689 name: Absent paranasal sinuses def: "Aplasia of the paranasal sinuses." [HPO:probinson] -synonym: "Absence of paranasal sinuses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of paranasal sinuses" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Missing paranasal sinuses" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing sinuses" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of paranasal sinuses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of paranasal sinuses" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Missing paranasal sinuses" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing sinuses" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1857131 xref: UMLS:C3804986 xref: UMLS:C4072844 @@ -24283,13 +24372,13 @@ name: Large sella turcica alt_id: HP:0005444 def: "An abnormal enlargement of the sella turcica." [HPO:probinson] subset: hposlim_core -synonym: "Big sella turcica" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Big sella turcica" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Enlarged sella turcica" EXACT [] -synonym: "Hyperplasia of hypophysial fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of pituitary fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of sella turcica" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Large hypophysial fossa" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large pituitary fossa" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of sella turcica" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large hypophysial fossa" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Large pituitary fossa" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent sella turcica" EXACT [] xref: UMLS:C1843677 xref: UMLS:C4072845 @@ -24300,11 +24389,11 @@ is_a: HP:0002679 ! Abnormality of the sella turcica id: HP:0002691 name: Platybasia def: "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [HPO:probinson] -comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result.\nBasal Angle formed by:\nline joining the nasion with the centre of the pituitary fossa\nline joining the anterior border of the foramen magnum with the centre of the pituitary fossa\nnormal: 125 degrees-143 degrees\nplatybasia: > 143 degrees\nbasilar kyphosis: < 125 degrees {xref="orcid.org/0000-0001-5889-4463"} +comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result.\nBasal Angle formed by:\nline joining the nasion with the centre of the pituitary fossa\nline joining the anterior border of the foramen magnum with the centre of the pituitary fossa\nnormal: 125 degrees-143 degrees\nplatybasia: > 143 degrees\nbasilar kyphosis: < 125 degrees {xref="ORCID:0000-0001-5889-4463"} subset: hposlim_core -synonym: "Flattening of the skull base" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased basal angle of skull base" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Obtuse basal angle of skull base" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Flattening of the skull base" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased basal angle of skull base" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Obtuse basal angle of skull base" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D010985 xref: SNOMEDCT_US:86587003 xref: UMLS:C0032209 @@ -24313,17 +24402,17 @@ is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002692 name: Hypoplastic facial bones -synonym: "Decreased size of facial bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of facial skeleton" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of facial bones" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of facial skeleton" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of facial skeleton" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic facial bones" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic facial skeleton" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small facial bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small facial skeleton" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of facial bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of facial skeleton" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Flattening of facial bones" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Flattening of facial skeleton" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of facial skeleton" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic facial bones" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic facial skeleton" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small facial bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Small facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of facial bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1846438 xref: UMLS:C4229090 xref: UMLS:C4280268 @@ -24335,7 +24424,7 @@ is_a: HP:0011821 ! Abnormality of facial skeleton id: HP:0002693 name: Abnormality of the skull base def: "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [HPO:curators] -synonym: "Abnormality of cranial base" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of cranial base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the skull base" EXACT layperson [] xref: UMLS:C4025688 is_a: HP:0000929 ! Abnormality of the skull @@ -24345,13 +24434,13 @@ id: HP:0002694 name: Sclerosis of skull base alt_id: HP:0005757 def: "Increased bone density of the skull base without significant changes in bony contour." [HPO:probinson] -synonym: "Dense bone of skull base" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "HyperCalcification of skull base" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "HyperMineralization of skull base" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "HyperOssification of skull base" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "HyperOstosis of skull base" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Dense bone of skull base" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "HyperCalcification of skull base" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "HyperMineralization of skull base" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "HyperOssification of skull base" EXACT [ORCID:0000-0001-5889-4463] +synonym: "HyperOstosis of skull base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Marked sclerosis of skull base" EXACT [] -synonym: "Sclerosis of cranial base" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Sclerosis of cranial base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Sclerosis of the skull base" EXACT [] synonym: "Sclerotic skull base" EXACT [] xref: UMLS:C1851714 @@ -24371,7 +24460,7 @@ is_a: HP:0002696 ! Abnormality of the parietal bone id: HP:0002696 name: Abnormality of the parietal bone def: "Any abnormality of the parietal bone of the skull." [HPO:curators] -synonym: "Abnormality of the parietal bone of skull" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the parietal bone of skull" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021834 is_a: HP:0002648 ! Abnormality of calvarial morphology @@ -24380,9 +24469,9 @@ id: HP:0002697 name: Parietal foramina def: "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide." [HPO:probinson] comment: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. -synonym: "Holes in parietal bones" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Openings in parietal bones" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Persistent foramina of the parietal bones" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Holes in parietal bones" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Openings in parietal bones" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Persistent foramina of the parietal bones" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:11240000 xref: SNOMEDCT_US:29307005 xref: UMLS:C0222706 @@ -24403,13 +24492,13 @@ id: HP:0002700 name: Large foramen magnum def: "An abnormal increase in the size of the foramen magnum." [HPO:curators] subset: hposlim_core -synonym: "Big foramen magnum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dilation of foramen magnum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Big foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Dilation of foramen magnum" EXACT [ORCID:0000-0001-5889-4463] synonym: "enlarged foramen magnum" EXACT [] -synonym: "Hyperplasia of foramen magnum" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Increased circumference of foramen magnum" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Increased diameter of foramen magnum" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Wide foramen magnum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Increased circumference of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Increased diameter of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Wide foramen magnum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1844508 xref: UMLS:C4073291 xref: UMLS:C4280554 @@ -24421,17 +24510,17 @@ id: HP:0002703 name: Abnormality of skull ossification def: "An abnormality of the process of ossification of the skull." [HPO:probinson] comment: The bones of the skull derive directly from mesenchyme cells by intramembranous ossification. -synonym: "Abnormality of bone calcification of calvarium" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of bone calcification of cranium" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of bone calcification of skull" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of bone formation of calvarium" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of bone formation of cranium" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of bone mineralization of calvarium" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of bone mineralization of cranium" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of bone mineralization of skull" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of ossification of calvarium" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of ossification of cranium" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of skull bone formation" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of bone calcification of calvarium" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of bone calcification of cranium" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of bone calcification of skull" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of bone formation of calvarium" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of bone formation of cranium" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of bone mineralization of calvarium" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of bone mineralization of cranium" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of bone mineralization of skull" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of ossification of calvarium" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of ossification of cranium" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of skull bone formation" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025686 xref: UMLS:C4280550 xref: UMLS:C4280551 @@ -24445,16 +24534,16 @@ creation_date: 2008-02-28T11:53:00Z id: HP:0002705 name: High, narrow palate def: "The presence of a high and narrow palate." [HPO:curators] -synonym: "Gothic palate" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Gothic palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "High arched palate" EXACT [] synonym: "High narrow palate" EXACT [] -synonym: "High vaulted palate" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "High vaulted palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "High, narrow palate" EXACT layperson [] synonym: "Narrow and high arched palate" EXACT [] synonym: "Narrow, high-arched palate" EXACT [] -synonym: "Narrow, high-arched roof of mouth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrow, high-arched roof of mouth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Narrow, highly arched palate" EXACT [] -synonym: "Narrow, highly arched roof of mouth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrow, highly arched roof of mouth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Palate high-arched" EXACT [] synonym: "Palate, high-arched" EXACT [] xref: UMLS:C1837404 @@ -24466,13 +24555,13 @@ id: HP:0002707 name: Palate telangiectasia alt_id: HP:0000229 def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [HPO:curators] -synonym: "Palatal angioectasia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Palatal spider veins" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Palatal telangiectasia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Palatal angioectasia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Palatal spider veins" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Palatal telangiectasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Palate telangiectases" EXACT [] synonym: "Palate teleangiectases" EXACT [] -synonym: "Spider veins of the roof of the mouth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Telangiectasia of the roof of the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Spider veins of the roof of the mouth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Telangiectasia of the roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1857699 xref: UMLS:C4280267 is_a: HP:0000174 ! Abnormality of the palate @@ -24482,9 +24571,9 @@ is_a: HP:0000228 ! Oral cavity telangiectasia id: HP:0002708 name: Prominent median palatal raphe def: "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate." [HPO:curators] -synonym: "Prominent central palatal ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent central ridge on roof of the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Prominent medial palatal suture" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Prominent central palatal ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent central ridge on roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Prominent medial palatal suture" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1845108 is_a: HP:0000174 ! Abnormality of the palate @@ -24494,10 +24583,10 @@ name: Commissural lip pit def: "A depression located at an oral commissure." [HPO:sdoelken, pmid:19125428] comment: Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. subset: hposlim_core -synonym: "Commissural labial pits" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Commissural labial pits" EXACT [ORCID:0000-0001-5889-4463] synonym: "Commissural pit" EXACT [] -synonym: "Lip pits at corners of the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pits at the corners of the lips" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lip pits at corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Pits at the corners of the lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0399605 is_a: HP:0100267 ! Lip pit @@ -24505,15 +24594,15 @@ is_a: HP:0100267 ! Lip pit id: HP:0002711 name: Exaggerated median tongue furrow def: "Increased depth of the median tongue furrow." [HPO:probinson] -synonym: "Deep central lingual furrow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deep central lingual groove" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deep central tongue furrow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deep central tongue groove" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deep median lingual furrow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deep median lingual groove" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deep median tongue furrow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deep median tongue groove" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Exaggerated median lingual furrow" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Deep central lingual furrow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deep central lingual groove" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deep central tongue furrow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deep central tongue groove" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deep median lingual furrow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deep median lingual groove" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deep median tongue furrow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deep median tongue groove" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Exaggerated median lingual furrow" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1845109 is_a: HP:0000221 ! Furrowed tongue @@ -24527,7 +24616,7 @@ subset: hposlim_core synonym: "Downturned corners of mouth" EXACT layperson [] synonym: "Downturned corners of the mouth" EXACT layperson [] synonym: "Downturned mouth" EXACT layperson [] -synonym: "Downturned oral commisures" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Downturned oral commisures" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1866195 is_a: HP:0011338 ! Abnormality of mouth shape @@ -24631,7 +24720,7 @@ name: Immunodeficiency alt_id: HP:0005362 alt_id: HP:0005371 def: "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227] -synonym: "Decreased immune function" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased immune function" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Immune deficiency" EXACT [] xref: MSH:D007153 xref: SNOMEDCT_US:234532001 @@ -24695,7 +24784,7 @@ is_a: HP:0011370 ! Recurrent cutaneous fungal infections [Term] id: HP:0002729 name: Follicular hyperplasia -def: "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [HPO:probinson] {comment="PMID: 23281438"} +def: "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [HPO:probinson, PMID:23281438] comment: Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96). xref: UMLS:C4014733 is_a: HP:0002716 ! Lymphadenopathy @@ -24738,8 +24827,8 @@ is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0002737 name: Thick skull base -synonym: "Increased thickness of bone of skull base" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased thickness of skull base" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased thickness of bone of skull base" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased thickness of skull base" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick skull base" EXACT layperson [] xref: UMLS:C1839507 is_a: HP:0002693 ! Abnormality of the skull base @@ -24748,10 +24837,10 @@ is_a: HP:0002693 ! Abnormality of the skull base id: HP:0002738 name: Hypoplastic frontal sinuses def: "Underdevelopment of frontal sinus." [HPO:probinson] -synonym: "Decreased pneumatization of frontal sinus" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of frontal sinuses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic frontal sinus" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small frontal sinuses" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased pneumatization of frontal sinus" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of frontal sinuses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic frontal sinus" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small frontal sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdeveloped frontal sinuses" EXACT [] xref: UMLS:C1859682 xref: UMLS:C4280548 @@ -24796,7 +24885,7 @@ id: HP:0002744 name: Bilateral cleft lip and palate def: "Cleft lip and cleft palate affecting both sides of the face." [HPO:probinson] synonym: "Bilateral cleft lip and cleft palate" EXACT [] -synonym: "Right and left cleft lip and palate" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Right and left cleft lip and palate" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:1085331000119107 xref: UMLS:C1398522 is_a: HP:0100336 ! Bilateral cleft lip @@ -24809,14 +24898,14 @@ def: "A thickened white patch on the oral mucosa that cannot be rubbed off." [HP comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. subset: hposlim_core synonym: "leukokeratosis" EXACT [HPO:SKOEHLER] -synonym: "Oral idiopathic keratosis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Oral idiopathic leukoplakia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Oral idiopathic white patch" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Oral leucoplakia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Oral leukokeratosis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Oral leukoplasia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Oral white patch" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Oral white plaque" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Oral idiopathic keratosis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Oral idiopathic leukoplakia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Oral idiopathic white patch" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Oral leucoplakia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Oral leukokeratosis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Oral leukoplasia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Oral white patch" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Oral white plaque" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D007971 xref: MSH:D007972 xref: SNOMEDCT_US:414603003 @@ -24904,7 +24993,7 @@ id: HP:0002754 name: Osteomyelitis def: "An infection of bone." [HPO:probinson] comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. -synonym: "Bone infection" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bone infection" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010019 xref: SNOMEDCT_US:111253001 xref: SNOMEDCT_US:60168000 @@ -24975,7 +25064,7 @@ is_a: HP:0001367 ! Abnormal joint morphology id: HP:0002761 name: Generalized joint laxity def: "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] -synonym: "Increased joint mobility" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased joint mobility" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Joint laxity, generalized" RELATED [HPO:skoehler] xref: UMLS:C1836308 is_a: HP:0001382 ! Joint hypermobility @@ -24993,7 +25082,7 @@ is_a: HP:0100777 ! Exostoses id: HP:0002763 name: Abnormal cartilage morphology def: "Any morphological abnormality of cartilage." [HPO:probinson] -synonym: "Abnormal shape of cartilage" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of cartilage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025680 is_a: HP:0011842 ! Abnormality of skeletal morphology @@ -25020,22 +25109,23 @@ replaced_by: HP:0008479 [Term] id: HP:0002777 name: Tracheal stenosis -synonym: "Narrowing of windpipe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of windpipe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014135 xref: SNOMEDCT_US:11296007 xref: UMLS:C0040583 -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0002778 -name: Abnormality of the trachea -def: "An anomaly of the trachea." [HPO:probinson] +name: Abnormal trachea morphology +def: "A structural anomaly of the trachea." [HPO:probinson] +synonym: "Abnormality of the trachea" EXACT [] synonym: "Tracheal disease" RELATED [] xref: MSH:D014133 xref: SNOMEDCT_US:47125007 xref: UMLS:C0040580 xref: UMLS:C4025678 -is_a: HP:0005607 ! Abnormality of the tracheobronchial system +is_a: HP:0005607 ! Abnormal tracheobronchial morphology [Term] id: HP:0002779 @@ -25043,7 +25133,7 @@ name: Tracheomalacia xref: MSH:D055090 xref: SNOMEDCT_US:95434006 xref: UMLS:C0948187 -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0002780 @@ -25060,7 +25150,7 @@ def: "Increased resistance to the passage of air in the upper airway." [HPO:prob subset: hposlim_core synonym: "Upper airway obstruction" EXACT layperson [] xref: UMLS:C0740852 -is_a: HP:0002087 ! Abnormality of the upper respiratory tract +is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002783 @@ -25097,7 +25187,7 @@ synonym: "Tracheal calcifications" EXACT [] synonym: "Tracheal ectopic calcification" EXACT [] xref: SNOMEDCT_US:81089005 xref: UMLS:C0264324 -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology is_a: HP:0010766 ! Ectopic calcification [Term] @@ -25135,7 +25225,7 @@ is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002790 name: Neonatal breathing dysregulation -synonym: "Impaired breathing in newborn" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Impaired breathing in newborn" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3806216 is_a: HP:0005957 ! Breathing dysregulation @@ -25147,8 +25237,8 @@ def: "A reduction in the amount of air transported into the pulmonary alveoli by comment: Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. synonym: "Alveolar hypoventilation" EXACT [] synonym: "Respiratory depression" RELATED [] -synonym: "Slow breathing" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Under breathing" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Slow breathing" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Under breathing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007040 xref: MSH:D012131 xref: SNOMEDCT_US:15993004 @@ -25183,9 +25273,10 @@ is_a: HP:0002795 ! Functional respiratory abnormality id: HP:0002795 name: Functional respiratory abnormality comment: This category describes not-primarily structural lesions. -synonym: "Abnormal respiration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal respiration" EXACT [ORCID:0000-0001-5208-3432] synonym: "Functional respiratory abnormality" EXACT layperson [] synonym: "Respiratory problem" RELATED layperson [] +xref: Fyler:4200 xref: UMLS:C4025677 is_a: HP:0002086 ! Abnormality of the respiratory system @@ -25249,7 +25340,7 @@ alt_id: HP:0003314 def: "Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] subset: hposlim_core synonym: "Gibbus deformity" EXACT [] -synonym: "Hunched back" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Hunched back" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Hyperkyphosis" EXACT [] synonym: "Round back" EXACT layperson [] xref: MSH:D007738 @@ -25263,8 +25354,8 @@ id: HP:0002810 name: Dumbbell-shaped metaphyses alt_id: HP:0005079 synonym: "Dumbbell shaped metaphyses" EXACT [] -synonym: "Dumbbell shaped metaphysis" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Dumbbell shaped wide portion of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dumbbell shaped metaphysis" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Dumbbell shaped wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3277123 is_a: HP:0000944 ! Abnormality of the metaphysis @@ -25282,7 +25373,7 @@ is_a: HP:0003367 ! Abnormality of the femoral neck id: HP:0002813 name: Abnormality of limb bone morphology def: "Any abnormality of bones of the arms or legs." [HPO:probinson] -synonym: "Abnormal shape of limb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Arm and/or leg bone differences" EXACT layperson [] synonym: "Limb abnormality" EXACT layperson [] xref: UMLS:C4082761 @@ -25316,9 +25407,9 @@ name: Genu recurvatum def: "An abnormally increased extension of the knee joint, so that the knee can bend backwards." [HPO:probinson, pmid:9580896] comment: Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. subset: hposlim_core -synonym: "Back knee" EXACT layperson [http://orcid.org/0000-0001-6908-9849, https://en.wikipedia.org/wiki/genu_recurvatum] +synonym: "Back knee" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, ORCID:0000-0001-6908-9849] synonym: "Genu recurvata" EXACT [] -synonym: "Knee hyperextension" EXACT layperson [http://orcid.org/0000-0001-6908-9849, https://en.wikipedia.org/wiki/genu_recurvatum] +synonym: "Knee hyperextension" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, ORCID:0000-0001-6908-9849] xref: MEDDRA:10018194 "Genu recurvatum" xref: UMLS:C0546964 is_a: HP:0002815 ! Abnormality of the knee @@ -25344,8 +25435,8 @@ is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0002821 name: Neuropathic arthropathy -synonym: "Charcot arthropathy" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Charcot joint" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Charcot arthropathy" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Charcot joint" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D001177 xref: SNOMEDCT_US:359554008 xref: SNOMEDCT_US:67536000 @@ -25366,7 +25457,7 @@ alt_id: HP:0001439 def: "Any anomaly of the structure of the femur." [HPO:probinson] comment: The femur (plural: femora) is the thigh bone. synonym: "Abnormality of the femora" EXACT [] -synonym: "Abnormality of the thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021750 is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs @@ -25376,14 +25467,14 @@ name: Caudal appendage def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson] subset: hposlim_core synonym: "Coccygeal tail" EXACT [] -synonym: "Human tail" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Human tail" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3277117 is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002826 name: Halberd-shaped pelvis -def: "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle)." [] {comment="HPO:probinson", comment="PMID:19232556"} +def: "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle)." [HPO:probinson, PMID:19232556] synonym: "Halberd-shaped pelvis bone" EXACT [] xref: UMLS:C3277119 is_a: HP:0040163 ! Abnormal pelvis bone morphology @@ -25415,7 +25506,7 @@ id: HP:0002829 name: Arthralgia def: "Joint pain." [HPO:probinson] synonym: "Arthralgias" EXACT [] -synonym: "Joint pain" EXACT layperson [] +synonym: "Joint pain" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Joint pains" RELATED layperson [HPO:skoehler] xref: MSH:D018771 xref: SNOMEDCT_US:57676002 @@ -25425,7 +25516,7 @@ is_a: HP:0012531 ! Pain [Term] id: HP:0002831 name: Long coccyx -synonym: "Long tailbone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Long tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3277116 is_a: HP:0008519 ! Abnormality of the coccyx @@ -25450,7 +25541,7 @@ is_a: HP:0012062 ! Bone cyst [Term] id: HP:0002834 name: Flared femoral metaphysis -synonym: "Flared metaphysis of thigh bone" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Flared metaphysis of thigh bone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4025674 is_a: HP:0006489 ! Abnormality of the femoral metaphysis is_a: HP:0030307 ! Flared lower limb metaphysis @@ -25459,7 +25550,7 @@ is_a: HP:0030307 ! Flared lower limb metaphysis id: HP:0002835 name: Aspiration def: "Inspiration of a foreign object into the airway." [HPO:probinson] -synonym: "Pulmonary aspiration" RELATED [orcid.org/0000-0001-6908-9849] +synonym: "Pulmonary aspiration" RELATED [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:413585005 xref: SNOMEDCT_US:68052005 xref: UMLS:C0700198 @@ -25471,7 +25562,7 @@ id: HP:0002836 name: Bladder exstrophy def: "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall." [HPO:probinson, pmid:23650202] comment: Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately. -synonym: "Ectopia vesicae" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Ectopia vesicae" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D001746 xref: SNOMEDCT_US:61758007 xref: UMLS:C0005689 @@ -25482,7 +25573,7 @@ is_a: HP:0100548 ! Exstrophy id: HP:0002837 name: Recurrent bronchitis alt_id: HP:0002785 -def: "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [HPO:probinson] +def: "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [HPO:probinson, ISBN:0199747725\, 9780199747726] synonym: "Bronchitis, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0741796 is_a: HP:0002788 ! Recurrent upper respiratory tract infections @@ -25503,7 +25594,7 @@ is_a: HP:0000009 ! Functional abnormality of the bladder id: HP:0002840 name: Lymphadenitis def: "Inflammation of a lymph node." [HPO:probinson] -synonym: "Inflammation of the lymph nodes" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of the lymph nodes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D008199 xref: SNOMEDCT_US:19471005 xref: UMLS:C0024205 @@ -25633,11 +25724,6 @@ id: HP:0002858 name: Meningioma alt_id: HP:0006754 def: "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater." [HPO:probinson] -synonym: "Meligioma" EXACT [] -synonym: "Mengioma" EXACT [] -synonym: "Mengiomia" EXACT [] -synonym: "Menigiom" EXACT [] -synonym: "Menigioma" EXACT [] xref: MSH:D008579 xref: UMLS:C0025286 is_a: HP:0100835 ! Benign neoplasm of the central nervous system @@ -25656,7 +25742,7 @@ is_a: HP:0030448 ! Soft tissue sarcoma id: HP:0002860 name: Squamous cell carcinoma def: "The presence of squamous cell carcinoma of the skin." [HPO:probinson] -synonym: "Squamous cell cancer" BROAD [orcid.org/0000-0001-6908-9849] +synonym: "Squamous cell cancer" BROAD [ORCID:0000-0001-6908-9849] xref: MSH:D002294 xref: MSH:D018307 xref: SNOMEDCT_US:28899001 @@ -25716,7 +25802,7 @@ is_a: HP:0002668 ! Paraganglioma id: HP:0002865 name: Medullary thyroid carcinoma def: "The presence of a medullary carcinoma of the thyroid gland." [HPO:probinson] -synonym: "Medullary thyroid cancer" BROAD [orcid.org/0000-0001-6908-9849] +synonym: "Medullary thyroid cancer" BROAD [ORCID:0000-0001-6908-9849] xref: MSH:C536914 xref: SNOMEDCT_US:128916007 xref: SNOMEDCT_US:255032005 @@ -25810,9 +25896,9 @@ is_a: HP:0002789 ! Tachypnea [Term] id: HP:0002877 name: Nocturnal hypoventilation -synonym: "Nocturnal hypopnea" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Nocturnal slow breathing" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Nocturnal under breathing" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Nocturnal hypopnea" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Nocturnal slow breathing" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Nocturnal under breathing" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1843643 is_a: HP:0002791 ! Hypoventilation @@ -25852,7 +25938,7 @@ is_a: HP:0002104 ! Apnea id: HP:0002883 name: Hyperventilation def: "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide." [HPO:probinson] -synonym: "Rapid breathing" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Rapid breathing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006985 xref: SNOMEDCT_US:68978004 xref: UMLS:C0020578 @@ -25942,7 +26028,7 @@ synonym: "Cancer of the pancreas" EXACT layperson [] synonym: "increased risk of pancreatic cancer" RELATED layperson [] synonym: "Neoplasia of the pancreas" EXACT [] synonym: "Pancreatic cancer" BROAD layperson [] -synonym: "Pancreatic tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Pancreatic tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010190 xref: SNOMEDCT_US:126859007 xref: SNOMEDCT_US:363418001 @@ -25968,7 +26054,7 @@ id: HP:0002896 name: Neoplasm of the liver def: "A tumor (abnormal growth of tissue) of the liver." [HPO:probinson] synonym: "Liver cancer" EXACT layperson [] -synonym: "Liver tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Liver tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D008113 xref: SNOMEDCT_US:126851005 xref: SNOMEDCT_US:93870000 @@ -26002,7 +26088,7 @@ is_a: HP:0011792 ! Neoplasm by histology id: HP:0002900 name: Hypokalemia def: "An abnormally decreased potassium concentration in the blood." [HPO:probinson] -synonym: "Low blood potassium levels" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Low blood potassium levels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007008 xref: SNOMEDCT_US:166690008 xref: SNOMEDCT_US:43339004 @@ -26014,7 +26100,7 @@ id: HP:0002901 name: Hypocalcemia def: "An abnormally decreased calcium concentration in the blood." [HPO:curators] synonym: "Hypocalcaemia" EXACT [] -synonym: "Low blood calcium levels" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Low blood calcium levels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006996 xref: SNOMEDCT_US:5291005 xref: UMLS:C0020598 @@ -26024,7 +26110,7 @@ is_a: HP:0040077 ! Abnormal concentration of calcium in blood id: HP:0002902 name: Hyponatremia def: "An abnormally decreased sodium concentration in the blood." [HPO:probinson] -synonym: "Low blood sodium levels" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Low blood sodium levels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007010 xref: SNOMEDCT_US:89627008 xref: UMLS:C0020625 @@ -26034,7 +26120,7 @@ is_a: HP:0010931 ! Abnormality of sodium homeostasis id: HP:0002904 name: Hyperbilirubinemia def: "An increased amount of bilirubin in the blood." [HPO:probinson] -synonym: "High blood bilirubin levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood bilirubin levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:26165005 xref: UMLS:C0311468 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis @@ -26043,7 +26129,7 @@ is_a: HP:0001939 ! Abnormality of metabolism/homeostasis id: HP:0002905 name: Hyperphosphatemia def: "An abnormally increased phosphate concentration in the blood." [HPO:gcarletti] -synonym: "High blood phosphate levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood phosphate levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D054559 xref: SNOMEDCT_US:20165001 xref: UMLS:C0085681 @@ -26116,7 +26202,7 @@ xref: UMLS:C0438717 xref: UMLS:C0877359 xref: UMLS:C1842003 xref: UMLS:C1848701 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0002912 @@ -26162,7 +26248,7 @@ id: HP:0002917 name: Hypomagnesemia alt_id: HP:0003284 def: "An abnormally decreased magnesium concentration in the blood." [HPO:probinson] -synonym: "Low blood magnesium levels" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Low blood magnesium levels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:190855004 xref: UMLS:C0151723 is_a: HP:0004921 ! Abnormality of magnesium homeostasis @@ -26171,7 +26257,7 @@ is_a: HP:0004921 ! Abnormality of magnesium homeostasis id: HP:0002918 name: Hypermagnesemia def: "An abnormally increased magnesium concentration in the blood." [HPO:probinson] -synonym: "High blood magnesium levels" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "High blood magnesium levels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:66978005 xref: UMLS:C0151714 is_a: HP:0004921 ! Abnormality of magnesium homeostasis @@ -26263,7 +26349,7 @@ name: Histidinuria alt_id: HP:0010905 def: "An increased concentration of histidine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours. -synonym: "High urine histidine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine histidine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C538321 xref: SNOMEDCT_US:78311009 xref: UMLS:C0268642 @@ -26420,7 +26506,7 @@ is_a: HP:0030304 ! Abnormal number of vertebrae id: HP:0002947 name: Cervical kyphosis def: "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance." [HPO:probinson] -synonym: "Rounded neck" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Rounded neck" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:298393001 xref: UMLS:C0575170 is_a: HP:0002808 ! Kyphosis @@ -26448,9 +26534,9 @@ is_a: HP:0100240 ! Synostosis of joints id: HP:0002949 name: Fused cervical vertebrae def: "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another." [] -synonym: "Cervical spine fusion" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Cervical spine fusion" EXACT [ORCID:0000-0001-6908-9849] synonym: "Cervical vertebral fusion" EXACT [] -synonym: "Fused neck" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Fused neck" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Fusion of cervical vertebrae" EXACT [] xref: UMLS:C3887527 is_a: HP:0002948 ! Vertebral fusion @@ -26465,7 +26551,7 @@ is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0002953 name: Vertebral compression fractures -synonym: "Compression fracture" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Compression fracture" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Fractures of vertebral bodies" EXACT [] synonym: "Vertebral body compression" EXACT [] synonym: "Vertebral collapse" EXACT [] @@ -26480,7 +26566,7 @@ is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0002955 name: Granulomatosis -def: "A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity." [HPO:probinson, pmid:937513] {comment="PMID: 10908370"} +def: "A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity." [HPO:probinson, PMID: 10908370, pmid:937513] comment: This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). xref: SNOMEDCT_US:443138004 xref: SNOMEDCT_US:44328006 @@ -26492,7 +26578,7 @@ id: HP:0002958 name: Immune dysregulation def: "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications." [PMID:26233425] synonym: "Immune dysregulation" EXACT layperson [] -synonym: "Unregulated immune response" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Unregulated immune response" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844666 is_a: HP:0010978 ! Abnormality of immune system physiology @@ -26551,7 +26637,7 @@ id: HP:0002967 name: Cubitus valgus def: "Abnormal positioning in which the elbows are turned out." [HPO:probinson] subset: hposlim_core -synonym: "Outward turned elbows" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Outward turned elbows" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:54583007 xref: UMLS:C0158465 is_a: HP:0009811 ! Abnormality of the elbow @@ -26617,7 +26703,7 @@ id: HP:0002977 name: Aplasia/Hypoplasia involving the central nervous system alt_id: HP:0001323 def: "Absence or underdevelopment of tissue in the central nervous system." [HPO:probinson] -synonym: "Absent/underdeveloped central nervous system tissue" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/underdeveloped central nervous system tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025665 is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter @@ -26647,7 +26733,7 @@ subset: hposlim_core synonym: "Bowed femur" EXACT [] synonym: "Bowed femura" EXACT [HPO:skoehler] synonym: "Bowed femurs" EXACT [HPO:skoehler] -synonym: "Bowed thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bowed thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859461 is_a: HP:0002823 ! Abnormality of femur morphology is_a: HP:0002979 ! Bowing of the legs @@ -26667,8 +26753,8 @@ alt_id: HP:0006363 def: "A bending or abnormal curvature of the tibia." [HPO:probinson] comment: A developmental defect with posteromedial tibial angulation. subset: hposlim_core -synonym: "Bowed shankbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bowed shinbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bowed shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bowed shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bowed tibia" EXACT [] synonym: "Bowing of the tibia" EXACT [] xref: UMLS:C1837081 @@ -26751,7 +26837,7 @@ name: Fibular aplasia alt_id: HP:0006373 def: "Absence of the fibula." [HPO:probinson] subset: hposlim_core -synonym: "Absent calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent fibulae" EXACT [] synonym: "Absent-hypoplastic fibulae" EXACT [] xref: MEDDRA:10054882 "Fibula agenesis" @@ -26763,7 +26849,7 @@ id: HP:0002991 name: Abnormality of fibula morphology def: "An anomaly of the calf bone (fibula), one of the two bones of the calf." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of the calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025664 is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs @@ -26772,8 +26858,8 @@ is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs id: HP:0002992 name: Abnormality of tibia morphology def: "Abnormality of the tibia (shinbone)." [HPO:curators] -synonym: "Abnormality of the shankbone" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Abnormality of the shinbone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormality of the shankbone" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Abnormality of the shinbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025663 is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs @@ -26802,7 +26888,7 @@ is_a: HP:0040072 ! Abnormality of forearm bone id: HP:0002999 name: Patellar dislocation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:probinson] -synonym: "Dislocated kneecap" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Dislocated kneecap" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Dislocated patellae" EXACT [] synonym: "Dislocation of patella" EXACT [] xref: MSH:D031222 @@ -26898,7 +26984,7 @@ is_a: HP:0000118 ! Phenotypic abnormality id: HP:0003013 name: Bulging epiphyses def: "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)." [HPO:probinson] -synonym: "Bulging end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bulging end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1833329 is_a: HP:0010580 ! Enlarged epiphyses @@ -26913,12 +26999,13 @@ alt_id: HP:0005095 alt_id: HP:0200002 def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones." [HPO:probinson, pmid:12853662] comment: Figure 11 of pmid:12853662 shows metaphyseal flaring. -synonym: "Flared wide portion of long bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Flared wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flared, widened metaphyses" EXACT [] synonym: "marked metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal flaring" EXACT [] synonym: "Metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal splaying" EXACT [] +synonym: "Metaphyses flared" EXACT [] synonym: "Splayed metaphyses" EXACT [] xref: UMLS:C1850135 is_a: HP:0003016 ! Metaphyseal widening @@ -26928,7 +27015,7 @@ id: HP:0003016 name: Metaphyseal widening alt_id: HP:0005074 def: "Abnormal widening of the metaphyseal regions of long bones." [HPO:probinson] -synonym: "Broad wide portion of long bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide metaphyses" EXACT [] synonym: "Widened long bone metaphyses" EXACT [] synonym: "Widened metaphyses" EXACT [] @@ -26973,7 +27060,7 @@ synonym: "Hypoplastic ulna" EXACT [] synonym: "Short ulna" EXACT [] synonym: "Short ulnae" EXACT [] synonym: "Ulnar hypoplasia" EXACT [] -synonym: "Underdeveloped ulna" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped ulna" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:C538069 xref: UMLS:C1860614 xref: UMLS:C1862132 @@ -27006,7 +27093,7 @@ def: "Irregularity of the normally smooth surface of the metaphyses." [HPO:probi synonym: "Frayed, irregular metaphyses" EXACT [] synonym: "Frayed, irregular, metaphyses" EXACT [] synonym: "Irregular metaphyses" EXACT [] -synonym: "Irregular wide portion of a long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Metaphyseal fraying" EXACT [] synonym: "Metaphyseal irregularities" EXACT [] xref: UMLS:C1838662 @@ -27084,7 +27171,7 @@ alt_id: HP:0005611 def: "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Craniodiaphyseal osteosclerosis" EXACT [] synonym: "Diaphyseal osteosclerosis" EXACT [] -synonym: "Increased bone density in shaft of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D003966 xref: SNOMEDCT_US:318761000119105 xref: SNOMEDCT_US:34643004 @@ -27111,7 +27198,7 @@ alt_id: HP:0006401 def: "Underdevelopment of the fibula." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic fibula" EXACT [] -synonym: "Short calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short fibula" EXACT [] synonym: "Short fibulae" EXACT [] xref: UMLS:C1832119 @@ -27187,7 +27274,7 @@ id: HP:0003045 name: Abnormality of the patella def: "Abnormality of the patella (knee cap)." [HPO:probinson] subset: hposlim_core -synonym: "Abnormal kneecap" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal kneecap" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Patellar abnormality" EXACT [] xref: UMLS:C4021743 is_a: HP:0002815 ! Abnormality of the knee @@ -27216,7 +27303,7 @@ id: HP:0003051 name: Enlarged metaphyses alt_id: HP:0005018 def: "Abnormal increase in size of one or more metaphyses." [HPO:probinson] -synonym: "Enlarged wide portion of a long bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Enlarged wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855544 is_a: HP:0000944 ! Abnormality of the metaphysis @@ -27259,10 +27346,10 @@ name: Patellar hypoplasia alt_id: HP:0005020 def: "Underdevelopment of the patella." [HPO:curators] synonym: "Hypoplastic patellae" EXACT [] -synonym: "Small kneecap" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Small kneecap" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Small patella" EXACT [] synonym: "Small patellae" EXACT [] -synonym: "Underdeveloped kneecap" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped kneecap" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1840068 is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella @@ -27306,7 +27393,7 @@ alt_id: HP:0005051 alt_id: HP:0005076 alt_id: HP:0005080 def: "Abnormal flatness (decreased height) of epiphyses." [HPO:probinson] -synonym: "Flat end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flat end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flat epiphyses" EXACT [] xref: UMLS:C1857527 is_a: HP:0005930 ! Abnormality of epiphysis morphology @@ -27315,9 +27402,9 @@ is_a: HP:0005930 ! Abnormality of epiphysis morphology id: HP:0003072 name: Hypercalcemia def: "An abnormally increased calcium concentration in the blood." [HPO:curators] -synonym: "High blood calcium levels" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "High blood calcium levels" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Hypercalcaemia" EXACT [] -synonym: "Increased calcium in blood" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased calcium in blood" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006934 xref: SNOMEDCT_US:166702002 xref: SNOMEDCT_US:66931009 @@ -27340,8 +27427,8 @@ is_a: HP:0012116 ! Abnormal albumin level id: HP:0003074 name: Hyperglycemia def: "An increased concentration of glucose in the blood." [HPO:probinson] -synonym: "High blood glucose" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "High blood sugar" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "High blood glucose" EXACT [ORCID:0000-0001-6908-9849] +synonym: "High blood sugar" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006943 xref: SNOMEDCT_US:237598005 xref: SNOMEDCT_US:80394007 @@ -27442,7 +27529,7 @@ name: Long fibula def: "Disproportionately long fibulae." [HPO:probinson] subset: hposlim_core synonym: "Disproportionately long fibula" EXACT [] -synonym: "Long calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Long calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Long fibula" EXACT layperson [] xref: UMLS:C1848109 is_a: HP:0002991 ! Abnormality of fibula morphology @@ -27479,9 +27566,9 @@ alt_id: HP:0008792 def: "Underdevelopment of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Small capital femoral epiphyses" EXACT [] synonym: "Small femoral capital epiphyses" EXACT [] -synonym: "Small innermost thighbone end part" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small innermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small proximal femoral epiphyses" EXACT [] -synonym: "Underdevelopment of the innermost thighbone end part" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdevelopment of the innermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1839254 is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis @@ -27506,7 +27593,7 @@ is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003095 name: Septic arthritis -synonym: "Infected joint" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Infected joint" BROAD layperson [ORCID:0000-0001-6908-9849] xref: MSH:D001170 xref: SNOMEDCT_US:372939007 xref: SNOMEDCT_US:396234004 @@ -27523,7 +27610,7 @@ subset: hposlim_core synonym: "Femoral hypoplasia" EXACT [] synonym: "Hypoplasia of the femora" EXACT [] synonym: "Short femurs" EXACT [] -synonym: "Short thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:93255008 xref: UMLS:C0345375 is_a: HP:0003026 ! Short long bone @@ -27533,7 +27620,7 @@ is_a: HP:0005613 ! Aplasia/hypoplasia of the femur id: HP:0003099 name: Fibular overgrowth def: "Relatively increased growth of the fibula compared to that of the tibia." [HPO:probinson, pmid:17259417] -synonym: "Overgrowth of calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Overgrowth of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1864298 is_a: HP:0002991 ! Abnormality of fibula morphology @@ -27605,7 +27692,7 @@ alt_id: HP:0002931 def: "An increased concentration of glycine in the urine." [HPO:gcarletti, pmid:18901181, pmid:20240447] comment: Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. synonym: "Glycinuria" EXACT [] -synonym: "High urine glycine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C563009 xref: SNOMEDCT_US:236477004 xref: UMLS:C0341706 @@ -27618,7 +27705,7 @@ id: HP:0003109 name: Hyperphosphaturia alt_id: HP:0003266 def: "An increased excretion of phosphates in the urine." [HPO:curators] -synonym: "High urine phosphate levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine phosphate levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Phosphaturia" EXACT [] xref: SNOMEDCT_US:22450000 xref: UMLS:C0268079 @@ -27660,7 +27747,7 @@ is_a: HP:0004337 ! Abnormality of amino acid metabolism id: HP:0003113 name: Hypochloremia def: "An abnormally decreased chloride concentration in the blood." [HPO:probinson] -synonym: "Low blood chloride levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood chloride levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:10399008 xref: UMLS:C0085680 xref: UMLS:C0595901 @@ -27679,7 +27766,7 @@ def: "Abnormal rhythm of the heart." [] synonym: "Abnormal ECG" EXACT layperson [] synonym: "Abnormal EKG" EXACT layperson [] synonym: "Abnormal electrocardiogram" EXACT [] -synonym: "EKG abnormality" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "EKG abnormality" EXACT HP:0045077 [] xref: SNOMEDCT_US:102594003 xref: UMLS:C0522055 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology @@ -27792,7 +27879,7 @@ is_a: HP:0000093 ! Proteinuria id: HP:0003127 name: Hypocalciuria def: "An abnormally decreased calcium concentration in the urine." [HPO:probinson] -synonym: "Low urine calcium levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low urine calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:86353007 xref: UMLS:C0020599 is_a: HP:0011280 ! Abnormality of urine calcium concentration @@ -27830,7 +27917,7 @@ id: HP:0003131 name: Cystinuria def: "An increased concentration of cystine in the urine." [HPO:gcarletti] comment: Cystine is a sulfur-containing amino acid. -synonym: "High urine cystine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine cystine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D003555 xref: SNOMEDCT_US:85020001 xref: UMLS:C0010691 @@ -27897,7 +27984,7 @@ alt_id: HP:0008343 def: "An elevated concentration of low-density lipoprotein cholesterol in the blood." [HPO:probinson] synonym: "Hyperbetalipoproteinemia" EXACT [] synonym: "Increased beta-lipoproteins" EXACT [] -synonym: "Increased circulating LDL level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased circulating LDL level" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased circulating low-density lipoprotein cholesterol" EXACT [] synonym: "Increased LDL cholesterol" EXACT layperson [] synonym: "Increased plasma LDL levels" EXACT HP:0045077 [] @@ -27934,7 +28021,7 @@ is_a: HP:0040126 ! Abnormal vitamin B12 level id: HP:0003146 name: Hypocholesterolemia def: "An decreased concentration of cholesterol in the blood." [HPO:gcarletti] -synonym: "Decreased circulating cholesterol level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased circulating cholesterol level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:61336008 xref: UMLS:C0151718 is_a: HP:0003107 ! Abnormality of cholesterol metabolism @@ -27952,7 +28039,7 @@ is_a: HP:0004356 ! Abnormality of lysosomal metabolism id: HP:0003149 name: Hyperuricosuria def: "An abnormally high level of uric acid in the urine." [HPO:probinson] -synonym: "High urine uric acid level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine uric acid level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0948643 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis @@ -27969,7 +28056,7 @@ is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0003152 name: Increased serum 1,25-dihydroxyvitamin D3 -synonym: "Increased serum calcitriol" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Increased serum calcitriol" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1833331 is_a: HP:0003117 ! Abnormality of circulating hormone level @@ -27978,7 +28065,7 @@ id: HP:0003153 name: Cystathioninuria def: "An elevated urinary concentration of cystathionine." [HPO:probinson] comment: Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. -synonym: "High urine cystathionine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine cystathionine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:13003007 xref: UMLS:C0220993 is_a: HP:0003355 ! Aminoaciduria @@ -27988,7 +28075,7 @@ is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism id: HP:0003154 name: Increased circulating ACTH level def: "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson] -synonym: "High blood corticotropin levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood corticotropin levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased circulating ACTH level" EXACT layperson [] synonym: "Increased plasma ACTH" EXACT [] xref: UMLS:C4021740 @@ -28025,7 +28112,7 @@ is_a: HP:0003110 ! Abnormality of urine homeostasis id: HP:0003159 name: Hyperoxaluria def: "Increased excretion of oxalates in the urine." [HPO:probinson] -synonym: "High urine oxalate levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine oxalate levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006959 xref: SNOMEDCT_US:367621000119107 xref: UMLS:C0020500 @@ -28053,7 +28140,7 @@ is_a: HP:0040156 ! Elevated urinary carboxylic acid [Term] id: HP:0003162 name: Fasting hypoglycemia -synonym: "Low blood sugar when fasting" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Low blood sugar when fasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007003 xref: SNOMEDCT_US:6974005 xref: UMLS:C0271708 @@ -28102,7 +28189,7 @@ id: HP:0003167 name: Carnosinuria def: "An increased concentration of carnosine in the urine." [HPO:probinson] comment: Carnosine is the N-(beta-alanyl) derivative of L-histidine. -synonym: "High urine carnosine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine carnosine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:410051001 xref: UMLS:C3495558 is_a: HP:0003355 ! Aminoaciduria @@ -28118,7 +28205,7 @@ id: HP:0003170 name: Abnormality of the acetabulum def: "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of the hipbone socket" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the hipbone socket" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Acetabular abnormality" EXACT [] xref: UMLS:C4021739 is_a: HP:0001384 ! Abnormality of the hip joint @@ -28233,7 +28320,7 @@ is_a: HP:0008800 ! Limited hip movement id: HP:0003185 name: Short sacroiliac notch alt_id: HP:0008815 -def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch." [] {comment="HPO:probinson"} +def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch." [HPO:probinson] synonym: "Shortened sacroiliac notches" EXACT [] synonym: "Small sacroiliac notch" EXACT [] xref: UMLS:C1866689 @@ -28265,13 +28352,13 @@ name: Long nose alt_id: HP:0005283 alt_id: HP:0200142 def: "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base." [pmid:19152422] -synonym: "Elongated nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased height of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased length of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased nasal height" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased nasal length" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Elongated nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased height of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased length of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased nasal height" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased nasal length" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long nose" EXACT layperson [] -synonym: "Nasal elongation" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Nasal elongation" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1839798 is_a: HP:0005105 ! Abnormal nasal morphology @@ -28283,8 +28370,8 @@ def: "The presence of a notch in the margin of the ala nasi." [HPO:probinson, pm comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity. synonym: "Ala nasi, cleft" EXACT [] synonym: "Alar clefts" EXACT [] -synonym: "Cleft nasal alae" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Cleft nostril" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cleft nasal alae" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Cleft nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nostril coloboma" RELATED [] synonym: "Notched nasal alae" EXACT [] xref: UMLS:C1844537 @@ -28296,7 +28383,7 @@ name: Allergic rhinitis def: "It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea." [PMID:11449200] synonym: "Hay fever" EXACT layperson [] synonym: "Hayfever" EXACT layperson [] -synonym: "Nasal allergies" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Nasal allergies" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D065631 xref: SNOMEDCT_US:61582004 xref: UMLS:C0847614 @@ -28307,9 +28394,9 @@ is_a: HP:0012393 ! Allergy [Term] id: HP:0003194 name: Short nasal bridge -synonym: "Decreased length of bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased length of nasal bridge" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Short bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased length of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Short bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short nasal bridge" EXACT layperson [] xref: UMLS:C1854689 is_a: HP:0000422 ! Abnormality of the nasal bridge @@ -28327,7 +28414,7 @@ alt_id: HP:0200092 def: "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, pmid:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. subset: hposlim_core -synonym: "Decreased length of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic nose" EXACT [] synonym: "Nasal hypoplasia" EXACT [] synonym: "Short nose" EXACT layperson [] @@ -28347,7 +28434,7 @@ alt_id: HP:0003742 alt_id: HP:0003802 def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson] comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. -synonym: "Muscle tissue disease" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Muscle tissue disease" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Myopathic changes" EXACT [] xref: MSH:D009135 xref: SNOMEDCT_US:129565002 @@ -28404,7 +28491,7 @@ synonym: "Amyotrophy" EXACT [] synonym: "Amyotrophy involving the extremities" EXACT [] synonym: "Muscle atrophy" EXACT [] synonym: "Muscle atrophy, neurogenic" EXACT [] -synonym: "Muscle degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle hypotrophy" EXACT [] synonym: "Muscle wasting" EXACT layperson [] synonym: "Muscular atrophy" EXACT [] @@ -28550,7 +28637,7 @@ id: HP:0003218 name: Oroticaciduria def: "An increased concentration of orotic acid in the urine." [HPO:gcarlotti] comment: Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. -synonym: "High urine orotic acid levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine orotic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Orotic aciduria" RELATED [HPO:skoehler] xref: SNOMEDCT_US:124277009 xref: SNOMEDCT_US:47641009 @@ -28625,7 +28712,7 @@ is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment sto id: HP:0003228 name: Hypernatremia def: "An abnormally increased sodium concentration in the blood." [HPO:probinson] -synonym: "High blood sodium levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood sodium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006955 xref: SNOMEDCT_US:286926003 xref: SNOMEDCT_US:39355002 @@ -28637,7 +28724,7 @@ id: HP:0003231 name: Hypertyrosinemia def: "An increased concentration of tyrosine in the blood." [HPO:probinson] comment: Defect in fumarylacetoacetase. -synonym: "Increased tyrosine in blood" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased tyrosine in blood" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Tyrosinemia" EXACT [] xref: SNOMEDCT_US:56595005 xref: UMLS:C1879362 @@ -28681,7 +28768,7 @@ id: HP:0003235 name: Hypermethioninemia def: "An increased concentration of methionine in the blood." [HPO:gcarletti] comment: Elevated blood methionine levels in the range of 500-2000 micromolar. -synonym: "Increased methionine in blood" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased methionine in blood" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Methioninemia" EXACT [] xref: MSH:C564683 xref: SNOMEDCT_US:124283007 @@ -28736,7 +28823,7 @@ is_a: HP:0010876 ! Abnormality of circulating protein level id: HP:0003239 name: Phosphoethanolaminuria def: "An increased concentration of phosphoethanolamine in the urine." [HPO:probinson] -synonym: "High urine phosphoethanolamine levels" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "High urine phosphoethanolamine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C562646 xref: SNOMEDCT_US:55236002 xref: UMLS:C0268412 @@ -28872,7 +28959,7 @@ id: HP:0003260 name: Hydroxyprolinemia def: "An increased concentration of hydroxyproline in the blood." [HPO:gcarletti] comment: Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter. -synonym: "High blood hydroxyproline levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood hydroxyproline levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C562669 xref: SNOMEDCT_US:25739007 xref: UMLS:C0268531 @@ -28918,7 +29005,7 @@ id: HP:0003265 name: Neonatal hyperbilirubinemia alt_id: HP:0008152 def: "A type of hyperbilirubinemia with neonatal onset." [HPO:probinson] -synonym: "High blood bilirubin levels in neonate" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "High blood bilirubin levels in neonate" EXACT [ORCID:0000-0001-5208-3432] synonym: "Hyperbilirubinemia, neonatal" EXACT [] xref: MSH:D051556 xref: SNOMEDCT_US:281610001 @@ -28940,7 +29027,7 @@ id: HP:0003268 name: Argininuria def: "A increased concentration of arginine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours. -synonym: "High urine arginine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine arginine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025635 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010909 ! Abnormality of arginine metabolism @@ -29087,7 +29174,7 @@ id: HP:0003286 name: Cystathioninemia def: "An increased concentration of cystathionine in the blood." [HPO:gcarletti, pmid:16902722] comment: Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma. -synonym: "High blood cystathionine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood cystathionine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:6669004 xref: UMLS:C0268618 is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism @@ -29113,6 +29200,7 @@ name: Decreased serum leptin def: "A decreased concentration of leptin in the blood." [HPO:probinson, pmid:16932309] comment: Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. synonym: "Decreased serum leptin" EXACT layperson [] +synonym: "Reduced circulating leptin level" EXACT [] xref: UMLS:C1837802 is_a: HP:0004361 ! Abnormality of circulating leptin level @@ -29127,7 +29215,7 @@ id: HP:0003296 name: Hyperthreoninuria def: "An increased concentration of threonine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours. -synonym: "High urine threonine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine threonine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2673931 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010900 ! Abnormality of threonine metabolism @@ -29138,7 +29226,7 @@ name: Hyperlysinuria alt_id: HP:0002158 def: "An increased concentration of lysine in the blood." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours. -synonym: "High blood lysine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood lysine levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Lysinuria" EXACT [] xref: UMLS:C4021733 is_a: HP:0003355 ! Aminoaciduria @@ -29229,7 +29317,7 @@ alt_id: HP:0002939 def: "Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine." [HPO:probinson] subset: hposlim_core synonym: "Lordosis" EXACT [] -synonym: "Prominent swayback" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Prominent swayback" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D008141 xref: SNOMEDCT_US:249710008 xref: SNOMEDCT_US:61960001 @@ -29271,7 +29359,7 @@ def: "Developmental hypoplasia of the dens of the axis." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic odontoid process" EXACT [] synonym: "Odontoid hypoplasia" EXACT [] -synonym: "Small odontoid peg" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Small odontoid peg" EXACT [ORCID:0000-0001-5208-3432] synonym: "Small odontoid process" EXACT [] xref: UMLS:C1846439 is_a: HP:0003310 ! Abnormality of the odontoid process @@ -29368,9 +29456,9 @@ id: HP:0003326 name: Myalgia alt_id: HP:0003718 def: "Pain in muscle." [HPO:probinson] -synonym: "Muscle ache" EXACT [orcid.org/0000-0002-0736-9199] -synonym: "Muscle pain" EXACT [orcid.org/0000-0002-0736-9199] -synonym: "Myalgias" RELATED [HPO:skoehler] +synonym: "Muscle ache" EXACT layperson [ORCID:0000-0002-0736-9199] +synonym: "Muscle pain" EXACT layperson [ORCID:0000-0002-0736-9199] +synonym: "Myalgias" RELATED HP:0045078 [HPO:skoehler] xref: MSH:D063806 xref: SNOMEDCT_US:68962001 xref: UMLS:C0231528 @@ -29566,7 +29654,7 @@ is_a: HP:0004337 ! Abnormality of amino acid metabolism id: HP:0003354 name: Hyperthreoninemia def: "An increased concentration of threonine in the blood." [HPO:probinson] -synonym: "High blood threonine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood threonine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848861 is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010900 ! Abnormality of threonine metabolism @@ -29614,7 +29702,7 @@ id: HP:0003361 name: Tryptophanuria def: "An increased concentration of tryptophan in the urine." [HPO:gcarletti, pmid:18901181] comment: Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours. -synonym: "High urine tryptophan levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine tryptophan levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:18789002 xref: UMLS:C0268472 is_a: HP:0003355 ! Aminoaciduria @@ -29635,6 +29723,7 @@ name: Abdominal situs inversus def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen." [HPO:probinson] synonym: "Situs inversus visceralis" EXACT [] synonym: "Situs inversus viscerum" EXACT [] +xref: Fyler:3816 xref: MSH:D012857 xref: SNOMEDCT_US:27317008 xref: SNOMEDCT_US:43876007 @@ -29647,7 +29736,7 @@ name: Arthralgia of the hip def: "Joint pain affecting the hip." [HPO:probinson] synonym: "Coxalgia" EXACT [] synonym: "Hip arthralgia" EXACT [] -synonym: "Hip joint pain" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hip joint pain" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:49218002 xref: UMLS:C0019559 is_a: HP:0003272 ! Abnormality of the hip bone @@ -29655,7 +29744,7 @@ is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003366 name: Abnormality of the femoral neck or head region -synonym: "Abnormal neck or head of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal neck or head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025622 is_a: HP:0002823 ! Abnormality of femur morphology @@ -29663,7 +29752,7 @@ is_a: HP:0002823 ! Abnormality of femur morphology id: HP:0003367 name: Abnormality of the femoral neck def: "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] -synonym: "Abnormal neck of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal neck of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025621 is_a: HP:0003366 ! Abnormality of the femoral neck or head region @@ -29671,7 +29760,7 @@ is_a: HP:0003366 ! Abnormality of the femoral neck or head region id: HP:0003368 name: Abnormality of the femoral head def: "An abnormality of the femoral head." [HPO:probinson] -synonym: "Abnormal head of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025620 is_a: HP:0003366 ! Abnormality of the femoral neck or head region @@ -29681,7 +29770,7 @@ name: Flat capital femoral epiphysis alt_id: HP:0006393 def: "An abnormal flattening of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Flat capital femoral epiphyses" EXACT [] -synonym: "Flat end part of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flat end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flat femoral capital epiphyses" EXACT [] synonym: "Flat proximal femoral epiphyses" EXACT [] synonym: "Flattened proximal femoral epiphyses" EXACT [] @@ -29694,7 +29783,7 @@ id: HP:0003371 name: Enlargement of the proximal femoral epiphysis def: "An abnormal enlargement of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Enlarged capital femoral epiphyses" EXACT [] -synonym: "Enlarged end part of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859697 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010580 ! Enlarged epiphyses @@ -29722,7 +29811,7 @@ id: HP:0003376 name: Steppage gait def: "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:probinson] synonym: "'steppage' gait" EXACT [] -synonym: "High stepping" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High stepping" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:27253007 xref: UMLS:C0427149 @@ -29802,7 +29891,7 @@ id: HP:0003388 name: Easy fatigability def: "Increased susceptibility to fatigue." [HPO:probinson] comment: Fatigue describes the inability to continue performing a task after multiple repetitions. -synonym: "Tired easily" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Tired easily" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:248268002 xref: UMLS:C0424585 xref: UMLS:C1837098 @@ -30352,6 +30441,7 @@ synonym: "Abnormal vertebral bodies" RELATED [] synonym: "Abnormality of the vertebrae" EXACT [] synonym: "Multiple vertebral anomalies" RELATED [HPO:skoehler] synonym: "Vertebral anomalies" EXACT [] +xref: Fyler:4108 xref: SNOMEDCT_US:205043005 xref: SNOMEDCT_US:74877002 xref: UMLS:C0158775 @@ -30370,7 +30460,7 @@ is_a: HP:0003130 ! Abnormal peripheral myelination id: HP:0003470 name: Paralysis def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators] -synonym: "Inability to move" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inability to move" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Paralysis" EXACT layperson [] xref: MSH:D010243 xref: SNOMEDCT_US:44695005 @@ -30656,7 +30746,7 @@ is_a: HP:0010928 ! Abnormality of orotic acid metabolism id: HP:0003527 name: Hyperprostaglandinuria def: "An increased concentration of prostaglandin in the urine." [HPO:probinson] -synonym: "High urine prostaglandin levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine prostaglandin levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866498 is_a: HP:0011023 ! Abnormality of prostaglandin metabolism @@ -30733,7 +30823,7 @@ is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism id: HP:0003537 name: Hypouricemia def: "An abnormally low level of uric acid in the blood." [HPO:curators] -synonym: "Low blood uric acid levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood uric acid levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:4519003 xref: UMLS:C0221333 is_a: HP:0002157 ! Azotemia @@ -31165,7 +31255,7 @@ id: HP:0003614 name: Trimethylaminuria def: "Increased concentration of trimethylamine in the urine." [HPO:probinson] comment: Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. -synonym: "High urine trimethylamine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine trimethylamine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C536561 xref: SNOMEDCT_US:237959005 xref: UMLS:C0342739 @@ -31213,7 +31303,7 @@ id: HP:0003634 name: Amyoplasia alt_id: HP:0008990 def: "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [HPO:probinson, Neuromics:vstraub] -synonym: "Absent muscles since birth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent muscles since birth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Congenital absence of muscles" EXACT [] xref: SNOMEDCT_US:205532005 xref: UMLS:C0432185 @@ -31225,7 +31315,7 @@ name: Loss of subcutaneous adipose tissue in limbs alt_id: HP:0003757 def: "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg." [HPO:probinson] subset: hposlim_core -synonym: "Loss of fat tissue below the skin in limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Loss of fat tissue below the skin in limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT [] xref: UMLS:C1837764 is_a: HP:0008887 ! Adipose tissue loss @@ -31257,7 +31347,7 @@ id: HP:0003641 name: Hemoglobinuria def: "The presence of free hemoglobin in the urine." [HPO:probinson] comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. -synonym: "Hemoglobin in urine" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hemoglobin in urine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006456 xref: SNOMEDCT_US:68600005 xref: UMLS:C0019048 @@ -31313,7 +31403,7 @@ is_a: HP:0003287 ! Abnormality of mitochondrial metabolism id: HP:0003648 name: Lacticaciduria def: "An increased concentration of lactic acid in the urine." [HPO:probinson] -synonym: "High urine lactic acid levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine lactic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025585 is_a: HP:0003128 ! Lactic acidosis is_a: HP:0003355 ! Aminoaciduria @@ -31436,7 +31526,7 @@ comment: Adolescent is defined by WHO as a person between 10-19 years of age. synonym: "Age of onset" EXACT [] xref: MSH:D017668 xref: UMLS:C0206132 -is_a: HP:0012823 ! Clinical modifier +is_a: HP:0031797 ! Clinical course [Term] id: HP:0003676 @@ -31472,7 +31562,7 @@ is_a: HP:0003679 ! Pace of progression id: HP:0003679 name: Pace of progression xref: UMLS:C4025580 -is_a: HP:0012823 ! Clinical modifier +is_a: HP:0031797 ! Clinical course [Term] id: HP:0003680 @@ -31556,7 +31646,7 @@ synonym: "Scapula alata" EXACT [] synonym: "Scapular weakness" RELATED [] synonym: "Winged scapulae" EXACT [] synonym: "Winged scapulas" EXACT [] -synonym: "Winged shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Winged shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10067628 "Winged scapula" xref: SNOMEDCT_US:17211005 xref: UMLS:C0240953 @@ -31585,7 +31675,7 @@ synonym: "Distal amyotrophy, especially of the hands and feet" EXACT [] synonym: "Distal limb muscle atrophy" EXACT [] synonym: "Distal muscle atrophy" EXACT [] synonym: "Distal muscle atrophy, upper and lower limbs" EXACT [] -synonym: "Distal muscle degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Distal muscle degeneration" EXACT [ORCID:0000-0001-5208-3432] synonym: "Distal muscle wasting" EXACT layperson [] synonym: "Distal muscular atrophy" EXACT [] synonym: "Muscle atrophy, distal" EXACT [] @@ -31603,9 +31693,9 @@ is_a: HP:0003701 ! Proximal muscle weakness id: HP:0003696 name: Absent epiphysis of the distal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [HPO:curators] -synonym: "Absent end part of the outermost bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the outermost bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the outermost bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025577 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger @@ -31648,7 +31738,7 @@ synonym: "Diffuse muscle atrophy" EXACT [] synonym: "Diffuse muscle wasting" EXACT [] synonym: "Diffuse skeletal muscle wasting" EXACT layperson [] synonym: "Generalized muscle atrophy" EXACT [] -synonym: "Generalized muscle degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Generalized muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle atrophy, diffuse" EXACT [] synonym: "Muscle atrophy, generalized" EXACT layperson [] synonym: "Muscular atrophy, generalized" EXACT [] @@ -31714,7 +31804,7 @@ name: Skeletal muscle hypertrophy def: "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] comment: Increased muscle bulk based on clinical observation. synonym: "Hypertrophic muscles" EXACT [] -synonym: "Increased skeletal muscle cells" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased skeletal muscle cells" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle hypertrophy" EXACT [] synonym: "Muscular hypertrophy" EXACT [] xref: UMLS:C2265792 @@ -31749,7 +31839,7 @@ is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003717 name: Minimal subcutaneous fat -synonym: "Minimal fat below the skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Minimal fat below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859442 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue @@ -31764,7 +31854,7 @@ is_a: HP:0010548 ! Percussion myotonia id: HP:0003720 name: Generalized muscle hypertrophy def: "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [HPO:curators] -synonym: "Generalized increase in muscle cell size" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Generalized increase in muscle cell size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805639 is_a: HP:0003712 ! Skeletal muscle hypertrophy @@ -31824,7 +31914,7 @@ id: HP:0003733 name: Thigh hypertrophy def: "Muscle hypertrophy affecting the thighs." [HPO:probinson] comment: Proximal lower limb hypertrophy -synonym: "Increased thigh size" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased thigh size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846674 is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities @@ -31966,7 +32056,7 @@ alt_id: HP:0007409 def: "A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness." [] synonym: "Decreased subcutaneous adipose tissue" EXACT [] synonym: "Decreased subcutaneous fat" EXACT [] -synonym: "Reduced fat tissue below the skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Reduced fat tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Reduced subcutaneous fat" EXACT [] synonym: "Scanty adipose tissue" EXACT [] xref: SNOMEDCT_US:248316006 @@ -31980,14 +32070,14 @@ id: HP:0003759 name: Hypoplasia of lymphatic vessels def: "Congenital underdevelopment of lymph vessels." [HPO:probinson] comment: This feature can be demonstrated by lymphography. -synonym: "Underdeveloped lymphatic vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped lymphatic vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025570 is_a: HP:0100766 ! Abnormal lymphatic vessel morphology [Term] id: HP:0003760 name: Percussion-induced rapid rolling muscle contractions -def: "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle." [] {comment="HPO:probinson"} +def: "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle." [HPO:probinson] xref: UMLS:C4280804 is_a: HP:0010548 ! Percussion myotonia @@ -32015,7 +32105,7 @@ is_a: HP:0031105 ! Abnormal uterus morphology id: HP:0003763 name: Bruxism def: "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep." [HPO:sdoelken] -synonym: "Teeth grinding" EXACT layperson [orcid.org/0000-0002-0736-9199] +synonym: "Teeth grinding" EXACT layperson [ORCID:0000-0002-0736-9199] xref: MSH:D002012 xref: SNOMEDCT_US:191983006 xref: SNOMEDCT_US:90207007 @@ -32027,7 +32117,7 @@ id: HP:0003764 name: Nevus def: "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin." [HPO:probinson] comment: The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. -synonym: "Mole" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Mole" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Naevi" RELATED [] synonym: "Naevus" EXACT [] synonym: "Nevi" RELATED [] @@ -32064,13 +32154,13 @@ is_a: HP:0003470 ! Paralysis id: HP:0003771 name: Pulp stones def: "Multiple punctate calcifications in the dental pulp." [HPO:ibailleulforestier] -synonym: "False denticles" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "False pulp stones" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Pulp calcifications" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Pulp denticles" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "False denticles" NARROW [ORCID:0000-0001-5889-4463] +synonym: "False pulp stones" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Pulp calcifications" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Pulp denticles" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pulp stones" EXACT layperson [] -synonym: "True denticles" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "True pulp stones" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "True denticles" NARROW [ORCID:0000-0001-5889-4463] +synonym: "True pulp stones" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D003784 xref: SNOMEDCT_US:57602001 xref: UMLS:C1527284 @@ -32105,7 +32195,7 @@ id: HP:0003777 name: Pili torti def: "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:probinson] subset: hposlim_core -synonym: "Flattened and twisted hair" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Flattened and twisted hair" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C562485 xref: SNOMEDCT_US:17170005 xref: UMLS:C0263491 @@ -32115,8 +32205,8 @@ is_a: HP:0003328 ! Abnormal hair laboratory examination id: HP:0003778 name: Short mandibular rami alt_id: HP:0005447 -synonym: "Decreased height of mandibular ramus" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of mandibular ramus" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of mandibular ramus" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of mandibular ramus" BROAD [ORCID:0000-0001-5889-4463] synonym: "Short body and ramus of mandible" EXACT [] synonym: "Short mandibular ramus" EXACT [] synonym: "Underdeveloped mandibular rami" EXACT [] @@ -32128,8 +32218,8 @@ is_a: HP:3000003 ! Abnormality of mandibular ramus [Term] id: HP:0003779 name: Antegonial notching of mandible -synonym: "Deep antegonial notch of mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Large antegonial notch of mandible" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Deep antegonial notch of mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large antegonial notch of mandible" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1844509 is_a: HP:0010753 ! Midline defect of mandible @@ -32141,7 +32231,7 @@ synonym: "Excessive production of saliva" EXACT [] synonym: "Excessive salivation" EXACT layperson [] synonym: "Hypersalivation" EXACT [] synonym: "Mouth watering" EXACT layperson [] -synonym: "Oversalivation" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Oversalivation" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Ptyalism" EXACT [] synonym: "Watery mouth" EXACT layperson [] xref: MSH:D012798 @@ -32204,7 +32294,7 @@ is_a: HP:0004303 ! Abnormality of muscle fibers id: HP:0003795 name: Short middle phalanx of toe def: "Developmental hypoplasia (shortening) of middle phalanx of toe." [HPO:probinson] -synonym: "Short middle bones (feet)" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short middle bones (feet)" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanges of toes" EXACT [] xref: UMLS:C4021723 is_a: HP:0001831 ! Short toe @@ -32222,7 +32312,7 @@ id: HP:0003797 name: Limb-girdle muscle atrophy def: "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators] synonym: "Limb-girdle myopathy" BROAD [] -synonym: "Wasting of limb-girdle muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wasting of limb-girdle muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1404521 xref: UMLS:C1842552 is_a: HP:0003202 ! Skeletal muscle atrophy @@ -32418,7 +32508,7 @@ is_a: HP:0030310 ! Upper extremity joint dislocation id: HP:0003835 name: Shoulder subluxation def: "A partial dislocation of the shoulder joint." [HPO:curators] -synonym: "Partial shoulder dislocation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial shoulder dislocation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:263051004 xref: UMLS:C0434744 is_a: HP:0003834 ! Shoulder dislocation @@ -32433,7 +32523,7 @@ is_a: HP:0003043 ! Abnormality of the shoulder id: HP:0003837 name: Soft-tissue ossification around the shoulders def: "Formation of calcified tissue in the soft tissues surrounding the shoulder." [HPO:probinson] -synonym: "Calcification of the soft-tissue around the shoulders" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Calcification of the soft-tissue around the shoulders" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025561 is_a: HP:0011986 ! Ectopic ossification @@ -32441,7 +32531,7 @@ is_a: HP:0011986 ! Ectopic ossification id: HP:0003839 name: Abnormality of upper limb epiphysis morphology alt_id: HP:0003845 -synonym: "Abnormal shape of end part of upper limb long bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of end part of upper limb long bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the upper limbs" EXACT [] synonym: "Epihyseal plate abnormality of the upper limbs" EXACT [] xref: UMLS:C4021722 @@ -32452,7 +32542,7 @@ is_a: HP:0006505 ! Abnormality of limb epiphysis morphology id: HP:0003840 name: Delayed upper limb epiphyseal ossification def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs." [HPO:probinson] -synonym: "Delayed maturation fo the end part of the upper limb bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Delayed maturation fo the end part of the upper limb bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025560 xref: UMLS:C4280544 is_a: HP:0002663 ! Delayed epiphyseal ossification @@ -32461,7 +32551,7 @@ is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0003841 name: Fragmented epiphyses of the upper limbs -synonym: "Fragmented end part of upper limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmented end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025559 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0100168 ! Fragmented epiphyses @@ -32469,7 +32559,7 @@ is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0003842 name: Irregular epiphyses of the upper limbs -synonym: "Irregular end part of upper limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025558 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0010582 ! Irregular epiphyses @@ -32477,14 +32567,14 @@ is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0003843 name: Round epiphyses of the upper limbs -synonym: "Round end part of upper limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Round end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025557 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0003844 name: Small epiphyses of the upper limbs -synonym: "Small end part of upper limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025556 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0010585 ! Small epiphyses @@ -32493,14 +32583,14 @@ is_a: HP:0010585 ! Small epiphyses id: HP:0003846 name: Wide epiphyseal plates of the upper limbs synonym: "Broad epiphyseal plates of the upper limbs" EXACT [] -synonym: "Broad growth plates of upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad growth plates of upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020913 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0003848 name: Cupped metaphyses of the upper limbs -synonym: "Cupped wide portion of the upper limb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cupped wide portion of the upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025555 is_a: HP:0003021 ! Metaphyseal cupping is_a: HP:0009809 ! Abnormality of upper limb metaphysis @@ -32510,7 +32600,7 @@ id: HP:0003849 name: Flared upper limb metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm." [HPO:probinson] synonym: "Flared metaphyses of the upper limbs" EXACT [] -synonym: "Flared wide portion of the upper limb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flared wide portion of the upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021721 is_a: HP:0003015 ! Flared metaphysis is_a: HP:0003856 ! Upper limb metaphyseal widening @@ -32519,7 +32609,7 @@ is_a: HP:0003856 ! Upper limb metaphyseal widening id: HP:0003850 name: Upper-limb metaphyseal irregularity synonym: "Irregular metaphyses of the upper limbs" EXACT [] -synonym: "Irregular wide portion of upper limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular wide portion of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021720 is_a: HP:0003025 ! Metaphyseal irregularity is_a: HP:0009809 ! Abnormality of upper limb metaphysis @@ -32545,14 +32635,14 @@ is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs [Term] id: HP:0003854 name: Sclerosis of metaphyses of the upper limbs -synonym: "Increased bone density in wide portion of the upper limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in wide portion of the upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025551 is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003855 name: Spurred metaphyses of the upper limbs -synonym: "Spurred wide portion of upper limb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Spurred wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025550 is_a: HP:0005054 ! Metaphyseal spurs is_a: HP:0009809 ! Abnormality of upper limb metaphysis @@ -32561,7 +32651,7 @@ is_a: HP:0009809 ! Abnormality of upper limb metaphysis id: HP:0003856 name: Upper limb metaphyseal widening def: "Increased width (breadth) of metaphyses of the arms." [HPO:probinson] -synonym: "Broad wide portion of upper limb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad metaphyses of the upper limbs" EXACT [] xref: UMLS:C4021719 is_a: HP:0003016 ! Metaphyseal widening @@ -32583,7 +32673,7 @@ is_a: HP:0009808 ! Anomaly of the upper limb diaphyses id: HP:0003860 name: Diaphyseal sclerosis of the upper limbs def: "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in central part of long bone of upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in central part of long bone of upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025547 is_a: HP:0003034 ! Diaphyseal sclerosis is_a: HP:0009808 ! Anomaly of the upper limb diaphyses @@ -32591,9 +32681,9 @@ is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003861 name: Broad diaphyses of the upper limbs -synonym: "Broad shaft of long bone of the upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide diaphyses of the upper limbs" EXACT [] -synonym: "Wide shaft of long bone of the upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021718 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses @@ -32602,7 +32692,7 @@ id: HP:0003862 name: Absent humerus def: "Missing humerus bone associated with congenital failure of development." [HPO:probinson] subset: hposlim_core -synonym: "Absent long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the humerus" EXACT [] synonym: "Aplastic humerus" EXACT [] xref: UMLS:C2678399 @@ -32611,7 +32701,7 @@ is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0003863 name: Angulated humerus -synonym: "Angulated long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Angulated long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025546 is_a: HP:0031095 ! Abnormal humerus morphology @@ -32619,7 +32709,7 @@ is_a: HP:0031095 ! Abnormal humerus morphology id: HP:0003864 name: Bifid humerus def: "Clefting affecting the humerus." [HPO:curators] -synonym: "Notched long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025545 is_a: HP:0031095 ! Abnormal humerus morphology @@ -32628,7 +32718,7 @@ id: HP:0003865 name: Bowed humerus def: "A bending or abnormal curvature of the humerus." [HPO:probinson] subset: hposlim_core -synonym: "Bowed long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bowed long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bowing of the humerus" EXACT [] synonym: "Humeral bowing" EXACT [] xref: UMLS:C1859460 @@ -32666,14 +32756,14 @@ is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus id: HP:0003870 name: Crumpled humerus alt_id: HP:0003873 -synonym: "Crumpled long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Crumpled long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025540 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003871 name: Deformed humerus -synonym: "Deformed long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Deformed long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025539 is_a: HP:0031095 ! Abnormal humerus morphology @@ -32724,7 +32814,7 @@ is_a: HP:0030314 ! Periostosis [Term] id: HP:0003879 name: Humeral pseudarthrosis -synonym: "False joint (long bone in upper arm)" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "False joint (long bone in upper arm)" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025532 is_a: HP:0031095 ! Abnormal humerus morphology @@ -32738,7 +32828,7 @@ is_a: HP:0003881 ! Humeral sclerosis [Term] id: HP:0003881 name: Humeral sclerosis -synonym: "Increased bone density in long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of humerus" EXACT [] xref: UMLS:C4021716 is_a: HP:0003063 ! Abnormality of the humerus @@ -32748,7 +32838,7 @@ is_a: HP:0006392 ! Increased density of long bones id: HP:0003882 name: Slender humerus def: "Reduction in diameter of the humerus." [HPO:probinson] -synonym: "Slender long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slender long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021851 is_a: HP:0003100 ! Slender long bone is_a: HP:0031095 ! Abnormal humerus morphology @@ -32756,14 +32846,14 @@ is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003883 name: Tapered humerus -synonym: "Tapered long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Tapered long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025531 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003884 name: Triangular humerus -synonym: "Triangular long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025530 is_a: HP:0003063 ! Abnormality of the humerus @@ -32777,7 +32867,7 @@ is_a: HP:0031095 ! Abnormal humerus morphology id: HP:0003886 name: Wide humerus synonym: "Broad humerus" EXACT [] -synonym: "Wide long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021715 is_a: HP:0005622 ! Broad long bones is_a: HP:0031095 ! Abnormal humerus morphology @@ -32785,14 +32875,14 @@ is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003887 name: Abnormality of the humeral heads -synonym: "Abnormal head of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025528 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003888 name: Flattened humeral heads -synonym: "Flattended head of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flattended head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3808869 is_a: HP:0003887 ! Abnormality of the humeral heads @@ -32812,7 +32902,7 @@ is_a: HP:0003889 ! Abnormality of the deltoid tuberosities id: HP:0003891 name: Abnormality of the humeral epiphysis def: "An anomaly of the humeral epiphysis." [HPO:probinson] -synonym: "Abnormality of end part of the long bone of the upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of the long bone of the upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the humeral epiphyses" EXACT [] xref: UMLS:C4021714 is_a: HP:0003063 ! Abnormality of the humerus @@ -32823,7 +32913,7 @@ id: HP:0003892 name: Absent humeral epiphyseal ossification def: "Lack of formation of bone in the epiphysis of the humerus." [HPO:probinson] comment: Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation. -synonym: "Absent maturation of end part of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent maturation of end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent ossification of the humeral epiphyses" EXACT [] xref: UMLS:C4021713 is_a: HP:0003891 ! Abnormality of the humeral epiphysis @@ -32833,7 +32923,7 @@ is_a: HP:0012791 ! Abnormal humeral ossification id: HP:0003893 name: Advanced ossification of the humeral epiphysis def: "Ossification of the humeral epiphysis at an earlier age than normal." [HPO:probinson] -synonym: "Accelerated maturation of end part of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Accelerated maturation of end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Advanced maturation of the humeral epiphyses" RELATED [] xref: UMLS:C4020836 xref: UMLS:C4025526 @@ -32844,7 +32934,7 @@ is_a: HP:0010656 ! Abnormal epiphyseal ossification id: HP:0003894 name: Delayed humeral epiphyseal ossification def: "A delay in the process of formation and maturation of the humeral epiphysis." [HPO:probinson] -synonym: "Delayed maturation of the end part of the long bone in upper arm" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed maturation of the end part of the long bone in upper arm" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed maturation/delayed ossification of the humeral epiphyses" EXACT [] xref: UMLS:C4021712 xref: UMLS:C4280543 @@ -32854,7 +32944,7 @@ is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003895 name: Flattened humeral epiphyses -synonym: "Flattened end part of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flattened end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025525 is_a: HP:0003071 ! Flattened epiphysis is_a: HP:0003891 ! Abnormality of the humeral epiphysis @@ -32862,7 +32952,7 @@ is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003896 name: Irregular humeral epiphyses -synonym: "Irregular end part of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025524 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis @@ -32870,7 +32960,7 @@ is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003897 name: Irregular ossification of the humeral epiphyses -synonym: "Irregular maturation of the end part of the long bone in upper arm" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Irregular maturation of the end part of the long bone in upper arm" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025523 xref: UMLS:C4280542 is_a: HP:0003891 ! Abnormality of the humeral epiphysis @@ -32880,7 +32970,7 @@ is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003898 name: Large humeral epiphyses -synonym: "Large end part of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Large end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025522 is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0010580 ! Enlarged epiphyses @@ -32888,7 +32978,7 @@ is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003899 name: Round humeral epiphyses -synonym: "Round end part of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Round end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025521 is_a: HP:0003843 ! Round epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis @@ -32896,7 +32986,7 @@ is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003900 name: Small humeral epiphyses -synonym: "Small end part of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025520 is_a: HP:0003844 ! Small epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis @@ -32920,7 +33010,7 @@ is_a: HP:0010655 ! Epiphyseal stippling id: HP:0003903 name: Broad humeral epiphyses def: "Increased width of the humeral epiphysis." [HPO:probinson] -synonym: "Wide end part of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide humeral epiphyses" EXACT [] xref: UMLS:C4021710 is_a: HP:0003891 ! Abnormality of the humeral epiphysis @@ -32930,7 +33020,7 @@ is_a: HP:0003904 ! Wide epiphyses of the upper limbs id: HP:0003904 name: Wide epiphyses of the upper limbs synonym: "Broad epiphyses of the upper limbs" EXACT [] -synonym: "Wide end part of upper limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021709 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0010580 ! Enlarged epiphyses @@ -32938,7 +33028,7 @@ is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003905 name: Abnormality of the humeral epiphyseal plate -synonym: "Abnormality of arm long bone growth plate" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of arm long bone growth plate" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025518 xref: UMLS:C4280541 is_a: HP:0003891 ! Abnormality of the humeral epiphysis @@ -32948,7 +33038,7 @@ id: HP:0003906 name: Broad humeral epiphyseal plate def: "Increased width of the humeral epiphyseal growth plate." [HPO:probinson] synonym: "Wide humeral epiphyseal plate" EXACT [] -synonym: "Wide long bone of arm growth plate" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide long bone of arm growth plate" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021708 xref: UMLS:C4280540 is_a: HP:0003846 ! Wide epiphyseal plates of the upper limbs @@ -32957,7 +33047,7 @@ is_a: HP:0003905 ! Abnormality of the humeral epiphyseal plate [Term] id: HP:0003907 name: Abnormality of the humeral metaphyses -synonym: "Abnormality of the wide portion of the long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the wide portion of the long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025517 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0009809 ! Abnormality of upper limb metaphysis @@ -32981,7 +33071,7 @@ is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003910 name: Enlarged humeral metaphyses -synonym: "Enlarged wide portion of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Expanded humeral metaphyses" EXACT [] xref: UMLS:C4021707 is_a: HP:0003051 ! Enlarged metaphyses @@ -32993,7 +33083,7 @@ name: Flared humeral metaphysis alt_id: HP:0003925 def: "Flaring (increase of width with a splayed appearance) of the humeral metaphysis." [HPO:probinson] synonym: "Flared humerus" RELATED [] -synonym: "Flared wide portion of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flared wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad humeral metaphysis" EXACT [] xref: UMLS:C4020835 xref: UMLS:C4020912 @@ -33010,7 +33100,7 @@ is_a: HP:0003907 ! Abnormality of the humeral metaphyses id: HP:0003913 name: Humeral metaphyseal irregularity synonym: "Irregular humeral metaphyses" EXACT [] -synonym: "Irregular wide portion of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular wide portion of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021706 is_a: HP:0003850 ! Upper-limb metaphyseal irregularity is_a: HP:0003907 ! Abnormality of the humeral metaphyses @@ -33018,7 +33108,7 @@ is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003914 name: Irregular ossification of humeral metaphyses -synonym: "Irregular bone maturation of the wide portion of the long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular bone maturation of the wide portion of the long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025513 is_a: HP:0003907 ! Abnormality of the humeral metaphyses is_a: HP:0012791 ! Abnormal humeral ossification @@ -33041,15 +33131,15 @@ is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003917 name: Pointed humeral metaphysis -synonym: "Pointed wide portion of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Pointed wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025510 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003918 name: Sclerotic humeral metaphysis -synonym: "Hardening of wide portion of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Stiffening of wide portion of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hardening of wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Stiffening of wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025509 is_a: HP:0003907 ! Abnormality of the humeral metaphyses @@ -33062,35 +33152,35 @@ is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0003920 name: Sloping humeral metaphysis -synonym: "Sloping metaphysis of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Sloping metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025507 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003921 name: Laterally sloping humeral metaphysis -synonym: "Laterally sloping metaphysis of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Laterally sloping metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025506 is_a: HP:0003920 ! Sloping humeral metaphysis [Term] id: HP:0003922 name: Spurred humeral metaphysis -synonym: "Spurred metaphysis of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Spurred metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025505 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003923 name: Square humeral metaphysis -synonym: "Square metaphysis of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Square metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025504 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003924 name: Stippled calcification of humeral metaphysis -synonym: "Speckled calcification in metaphysis of long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcification in metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025503 is_a: HP:0003907 ! Abnormality of the humeral metaphyses @@ -33098,7 +33188,7 @@ is_a: HP:0003907 ! Abnormality of the humeral metaphyses id: HP:0003926 name: Abnormality of the humeral diaphysis def: "An anomaly of the humeral diaphysis." [HPO:probinson] -synonym: "Abnormality of shaft of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025502 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses is_a: HP:0031095 ! Abnormal humerus morphology @@ -33148,7 +33238,7 @@ is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003933 name: Sclerosis of humeral diaphysis -synonym: "Increased bone density in shaft of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025496 is_a: HP:0003860 ! Diaphyseal sclerosis of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis @@ -33156,7 +33246,7 @@ is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003934 name: Slender humeral diaphysis -synonym: "Slender shaft of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slender shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025495 is_a: HP:0003926 ! Abnormality of the humeral diaphysis @@ -33165,8 +33255,8 @@ id: HP:0003935 name: Wide humeral diaphysis def: "Increased width of the humeral diaphysis." [HPO:probinson] synonym: "Broad humeral diaphysis" EXACT [] -synonym: "Broad shaft of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide shaft of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021704 is_a: HP:0003861 ! Broad diaphyses of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis @@ -33174,7 +33264,7 @@ is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003938 name: Synostosis involving the elbow -synonym: "Bone fusion involving the elbow" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bone fusion involving the elbow" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025494 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0100238 ! Synostosis involving bones of the upper limbs @@ -33232,7 +33322,7 @@ is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003946 name: Abnormality of the epiphyses of the elbow -synonym: "Abnormality of end part of the elbow bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025488 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0009811 ! Abnormality of the elbow @@ -33241,7 +33331,7 @@ is_a: HP:0009811 ! Abnormality of the elbow id: HP:0003947 name: Delayed elbow epiphyseal ossification def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow." [HPO:probinson] -synonym: "Delayed maturation of the end part of the elbow bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Delayed maturation of the end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025487 is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow @@ -33249,7 +33339,7 @@ is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003948 name: Irregular epiphyses of the elbow -synonym: "Irregular end part of the elbow bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025486 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow @@ -33257,7 +33347,7 @@ is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003949 name: Abnormality of the elbow metaphyses -synonym: "Abnormal wide portion of elbow bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal wide portion of elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025485 is_a: HP:0009809 ! Abnormality of upper limb metaphysis is_a: HP:0009811 ! Abnormality of the elbow @@ -33275,7 +33365,7 @@ id: HP:0003951 name: Distal humeral metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow)." [HPO:probinson] synonym: "Irregular metaphyses of elbow" EXACT [] -synonym: "Irregular wide portion of elbow bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular wide portion of elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021703 is_a: HP:0003913 ! Humeral metaphyseal irregularity is_a: HP:0003949 ! Abnormality of the elbow metaphyses @@ -33302,12 +33392,12 @@ id: HP:0003954 name: Angulated forearm bones synonym: "Angulated forearm bones" EXACT layperson [] xref: UMLS:C4025483 -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003955 name: Bone-in-a-bone appearance of forearm -def: "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography." [] {def="HPO:probinson"} +def: "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography." [HPO:probinson] synonym: "Bone-in-a-bone appearance of forearm" EXACT layperson [] xref: UMLS:C4025482 is_a: HP:0002973 ! Abnormality of the forearm @@ -33319,7 +33409,7 @@ def: "A bending or abnormal curvature affecting either the radius, the ulna, or synonym: "Bowed forearm bones" EXACT layperson [] xref: UMLS:C4025481 is_a: HP:0006488 ! Bowing of the arm -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003957 @@ -33339,7 +33429,7 @@ id: HP:0003959 name: Deformed forearm bones synonym: "Deformed forearm bones" EXACT layperson [] xref: UMLS:C4025479 -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003960 @@ -33354,7 +33444,7 @@ name: Fractured forearm bones synonym: "Fractured forearm bones" EXACT layperson [] xref: UMLS:C4025477 is_a: HP:0003330 ! Abnormal bone structure -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003963 @@ -33383,7 +33473,7 @@ is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003967 name: Sclerotic forearm bones -synonym: "Increased bone density of forearm bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025472 is_a: HP:0040072 ! Abnormality of forearm bone @@ -33391,7 +33481,7 @@ is_a: HP:0040072 ! Abnormality of forearm bone id: HP:0003969 name: Slender forearm bones xref: UMLS:C4025471 -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003970 @@ -33406,7 +33496,7 @@ def: "Abnormally wide bone of the skeleton of forearm." [HPO:probinson] synonym: "Broad forearm bones" EXACT layperson [] synonym: "Wide forearm bones" EXACT layperson [] xref: UMLS:C4021700 -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003973 @@ -33988,7 +34078,7 @@ is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand id: HP:0004051 name: Advanced ossification of the hand bones def: "Ossification of hand bones at an earlier age than normal." [HPO:probinson] -synonym: "Accelerated maturation of hand bones" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Accelerated maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Advanced maturation of the hand bones" RELATED [] xref: UMLS:C4020834 is_a: HP:0010660 ! Abnormal hand bone ossification @@ -34020,7 +34110,7 @@ alt_id: HP:0004055 def: "Osteosclerosis affecting one or more bones of the hand." [HPO:probinson] synonym: "Generalized sclerosis of hand bones" EXACT [] synonym: "Hand bone sclerosis" EXACT [] -synonym: "Increased bone density in hand bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021684 is_a: HP:0011001 ! Increased bone mineral density @@ -34043,7 +34133,7 @@ is_a: HP:0001180 ! Hand oligodactyly id: HP:0004059 name: Radial club hand def: "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius." [HPO:probinson] -synonym: "Radial dysplasia" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Radial dysplasia" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025414 is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009486 ! Radial deviation of the hand @@ -34130,7 +34220,7 @@ consider: HP:0009542 id: HP:0004112 name: Midline nasal groove def: "An abnormal groove on the midline of the nose that may extend to the nasal tip." [HPO:sdoelken] -synonym: "Central nasal groove" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Central nasal groove" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midline nasal groove" EXACT layperson [] xref: UMLS:C4025412 is_a: HP:0004122 ! Midline defect of the nose @@ -34148,12 +34238,12 @@ id: HP:0004122 name: Midline defect of the nose alt_id: HP:0003190 def: "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:sdoelken] -synonym: "Central cleft of nose" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Central defect of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Central nasal defect" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Midline cleft of nose" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Central cleft of nose" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Central defect of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Central nasal defect" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Midline cleft of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Midline defect of the nose" EXACT layperson [] -synonym: "Midline nasal defect" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Midline nasal defect" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025411 xref: UMLS:C4280539 is_a: HP:0005105 ! Abnormal nasal morphology @@ -34165,7 +34255,7 @@ id: HP:0004132 name: Dimple on nasal tip def: "An abnormal indentation of the skin in the region of the nasal tip." [HPO:sdoelken] synonym: "Dimple on nasal tip" EXACT layperson [] -synonym: "Dimpled tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dimpled tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1863349 is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter @@ -34236,7 +34326,7 @@ consider: HP:0009316 [Term] id: HP:0004172 name: Abnormality of the middle phalanx of the 3rd finger -synonym: "Abnormal middle finger bone of the middle finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal middle finger bone of the middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025410 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger @@ -34259,7 +34349,7 @@ alt_id: HP:0004182 def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 3rd finger" EXACT [] synonym: "Short distal phalanx of the third finger" EXACT [] -synonym: "Short outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short terminal phalanx of middle finger" EXACT [] xref: UMLS:C4021681 is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger @@ -34341,7 +34431,7 @@ consider: HP:0009408 id: HP:0004197 name: Symphalangism of the 4th finger def: "Fusion of two or more bones of the 4th finger." [HPO:curators] -synonym: "Fused ring finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the ring finger" EXACT [] xref: UMLS:C4021679 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger @@ -34377,8 +34467,8 @@ id: HP:0004207 name: Abnormality of the 5th finger def: "An abnormality affecting one or both 5th fingers." [HPO:sdoelken] synonym: "Abnormality of the little finger" EXACT layperson [] -synonym: "Abnormality of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021678 is_a: HP:0001167 ! Abnormality of finger @@ -34397,9 +34487,9 @@ synonym: "Bilateral fifth digit clinodactyly" EXACT [] synonym: "Bilateral fifth finger clinodactyly" EXACT [] synonym: "Clinodactyly of fifth digit" EXACT [] synonym: "Clinodactyly of the little finger" EXACT [] -synonym: "Curvature of little finger" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curvature of pinkie finger" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curvature of pinky finger" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of little finger" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Curvature of pinkie finger" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Curvature of pinky finger" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Fifth finger clinodactyly" EXACT [] xref: UMLS:C1850049 xref: UMLS:C4280538 @@ -34410,9 +34500,9 @@ is_a: HP:0040019 ! Finger clinodactyly id: HP:0004213 name: Abnormality of the phalanges of the 5th finger def: "Abnormality of the phalanges of the 5th (little) finger." [HPO:sdoelken] -synonym: "Abnormality of the little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025408 is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0005918 ! Abnormality of phalanx of finger @@ -34421,9 +34511,9 @@ is_a: HP:0005918 ! Abnormality of phalanx of finger id: HP:0004214 name: Curved phalanges of the 5th finger def: "Curved phalanges of the 5th (little) finger." [HPO:curators] -synonym: "Curved little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025407 is_a: HP:0004095 ! Curved fingers is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger @@ -34442,9 +34532,9 @@ is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand id: HP:0004218 name: Symphalangism of the 5th finger def: "Fusion of two or more bones of the 5th finger." [HPO:curators] -synonym: "Fused little finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused pinkie finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused pinky finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalagism of the little finger" EXACT [] xref: UMLS:C4021676 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger @@ -34454,9 +34544,9 @@ is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004219 name: Abnormality of the middle phalanx of the 5th finger -synonym: "Abnormality of the middle bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the middle bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Abnormality of the middle bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Abnormality of the middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025406 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger @@ -34479,9 +34569,9 @@ synonym: "Hypoplastic fifth finger middle phalanx" EXACT [] synonym: "Hypoplastic middle phalanx of the 5th finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 5th finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the little finger" EXACT [] -synonym: "Short middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Short middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Short middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of the little finger" EXACT [] synonym: "Type A3 brachydactyly" EXACT [] xref: UMLS:C1834060 @@ -34494,9 +34584,9 @@ is_a: HP:0009370 ! Type A brachydactyly id: HP:0004222 name: Cone-shaped epiphysis of the distal phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of the distal phalanx of the little finger" EXACT [] xref: UMLS:C4021675 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger @@ -34508,9 +34598,9 @@ id: HP:0004223 name: Ivory epiphysis of the distal phalanx of the 5th finger alt_id: HP:0004229 def: "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ivory epiphysis of the distal phalanx of the little finger" EXACT [] synonym: "Ivory epiphysis of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021674 @@ -34522,9 +34612,9 @@ is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand id: HP:0004224 name: Abnormality of the epiphysis of the middle phalanx of the 5th finger def: "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] -synonym: "Abnormality of the end part of middle little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of middle pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of middle pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025405 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger @@ -34535,9 +34625,9 @@ id: HP:0004225 name: Abnormality of the distal phalanx of the 5th finger def: "Abnormality of the distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Abnormality of the distal phalanx of the little finger" EXACT [] -synonym: "Abnormality of the outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021673 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger @@ -34546,9 +34636,9 @@ is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger id: HP:0004226 name: Curved distal phalanx of the 5th finger def: "Curved appearance of the distal phalanx of the 5th (little) finger." [HPO:curators] -synonym: "Curved outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021672 is_a: HP:0004214 ! Curved phalanges of the 5th finger @@ -34564,9 +34654,9 @@ synonym: "Brachytelophalangism V" EXACT [] synonym: "Fifth digit distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplastic/small terminal phalanx of the little finger" EXACT [] synonym: "Short distal phalanx of the fifth finger" EXACT [] -synonym: "Short outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Short outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Short outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836674 is_a: HP:0009237 ! Short 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger @@ -34576,9 +34666,9 @@ is_a: HP:0009882 ! Short distal phalanx of finger id: HP:0004230 name: Subluxation of the proximal interphalangeal joint of the little finger def: "A partial dislocation of the proximal interphalangeal joint of the little finger." [HPO:sdoelken] -synonym: "Partially dislocated innermost hinge joint of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partially dislocated innermost hinge joint of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partially dislocated innermost hinge joint of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partially dislocated innermost hinge joint of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partially dislocated innermost hinge joint of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partially dislocated innermost hinge joint of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025404 is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0006243 ! Phalangeal dislocation @@ -34594,9 +34684,9 @@ comment: Radiographically difficult to distinguish between absent ossification o synonym: "Absent carpal bone" EXACT [] synonym: "Absent carpal bones" EXACT [] synonym: "Absent carpal ossification center" EXACT [] -synonym: "Absent wrist bone" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent wrist bone" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic carpal bone" EXACT [] -synonym: "Missing wrist bone" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Missing wrist bone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836219 xref: UMLS:C4280537 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones @@ -34605,7 +34695,7 @@ is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones id: HP:0004232 name: Accessory carpal bones def: "The presence of more than the normal number of carpal bones." [HPO:curators] -synonym: "Extra wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Supernumerary carpal bones" EXACT [] xref: SNOMEDCT_US:20136007 xref: SNOMEDCT_US:9181003 @@ -34619,7 +34709,7 @@ name: Advanced ossification of carpal bones alt_id: HP:0006104 def: "Ossification of carpal bones at an abnormally early age." [HPO:probinson] synonym: "Accelerated carpal bone maturation" EXACT [] -synonym: "Accelerated wrist bone maturation" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Accelerated wrist bone maturation" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Advanced carpal bone age" EXACT [] synonym: "Advanced carpal ossification" EXACT [] synonym: "Precociously ossified carpal bones" EXACT [] @@ -34631,7 +34721,7 @@ is_a: HP:0006257 ! Abnormality of carpal bone ossification id: HP:0004234 name: Bone-in-a-bone appearance of carpal bones def: "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones." [HPO:curators] -synonym: "Bone-in-a-bone appearance of wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bone-in-a-bone appearance of wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025403 is_a: HP:0009164 ! Abnormal calcification of the carpal bones is_a: HP:0011001 ! Increased bone mineral density @@ -34639,7 +34729,7 @@ is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004235 name: Comma-shaped carpal bones -synonym: "Comma-shaped wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Comma-shaped wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025402 is_a: HP:0006014 ! Abnormally shaped carpal bones @@ -34647,7 +34737,7 @@ is_a: HP:0006014 ! Abnormally shaped carpal bones id: HP:0004236 name: Irregular carpal bones def: "Carpal bones with irregular or fragmented margins." [HPO:probinson] -synonym: "Irregular wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025401 is_a: HP:0006014 ! Abnormally shaped carpal bones @@ -34657,7 +34747,7 @@ name: Large carpal bones def: "Increased size of carpal bones." [HPO:probinson] subset: hposlim_core synonym: "Large carpals" EXACT [] -synonym: "Large wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Large wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021671 is_a: HP:0006014 ! Abnormally shaped carpal bones @@ -34676,8 +34766,8 @@ is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004240 name: Sclerotic foci within carpal bones -synonym: "Hardened spots within wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Stiffened spots within wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hardened spots within wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Stiffened spots within wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025398 xref: UMLS:C4280535 is_a: HP:0004054 ! Sclerosis of hand bone @@ -34697,7 +34787,7 @@ is_a: HP:0009164 ! Abnormal calcification of the carpal bones id: HP:0004242 name: Broad carpal bones synonym: "Wide carpal bones" EXACT [] -synonym: "Wide wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3554618 is_a: HP:0004237 ! Large carpal bones @@ -34831,7 +34921,7 @@ is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004260 name: Large hamate bone -synonym: "Large unciform bone" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Large unciform bone" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025385 is_a: HP:0004237 ! Large carpal bones is_a: HP:0004259 ! Abnormality of the hamate bone @@ -34840,7 +34930,7 @@ is_a: HP:0004259 ! Abnormality of the hamate bone id: HP:0004261 name: Wide hamate bone synonym: "Broad hamate bone" EXACT [] -synonym: "Wide unciform bone" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Wide unciform bone" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4021667 is_a: HP:0004242 ! Broad carpal bones is_a: HP:0004260 ! Large hamate bone @@ -34884,7 +34974,7 @@ is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand id: HP:0004269 name: Subluxation of the small joints of the hand def: "A partial dislocation of some or all of the small joints of the hand." [HPO:curators] -synonym: "Partial dislocation of small joints of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial dislocation of small joints of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025380 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand @@ -34905,15 +34995,15 @@ is_a: HP:0005926 ! Abnormality of hand cortical bone [Term] id: HP:0004273 name: Cupped metaphyses of hand bones -synonym: "Cupped metaphysis of hand bones" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Cupped wide portion of hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cupped metaphysis of hand bones" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Cupped wide portion of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025377 is_a: HP:0005923 ! Abnormalities of the metaphyses of the hand [Term] id: HP:0004274 name: Deficient ossification of hand bones -synonym: "Deficient maturation of hand bones" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Deficient maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025376 xref: UMLS:C4280534 is_a: HP:0010660 ! Abnormal hand bone ossification @@ -34937,7 +35027,7 @@ is_a: HP:0100777 ! Exostoses [Term] id: HP:0004277 name: Fractured hand bones -synonym: "Broken hand bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broken hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fractured hand bones" EXACT layperson [] xref: SNOMEDCT_US:20511007 xref: UMLS:C0435632 @@ -34969,14 +35059,14 @@ is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0004280 name: Irregular ossification of hand bones -synonym: "Irregular maturation of hand bones" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Irregular maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025374 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004281 name: Irregular sclerosis of hand bones -synonym: "Increased bone density in hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025373 is_a: HP:0004054 ! Sclerosis of hand bone @@ -35007,7 +35097,7 @@ is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004286 name: Patchy sclerosis of hand bones -synonym: "Uneven increase in bone density in hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025370 is_a: HP:0004281 ! Irregular sclerosis of hand bones @@ -35062,8 +35152,8 @@ is_a: HP:0100328 ! Carpometacarpal synostosis id: HP:0004294 name: Subluxation of metacarpal phalangeal joints def: "A partial dislocation affecting some or all of the metacarpophalangeal joints." [HPO:probinson] -synonym: "Partial knuckle dislocation" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Subluxation of metacarpophalangeal joints" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Partial knuckle dislocation" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Subluxation of metacarpophalangeal joints" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025363 is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint @@ -35071,7 +35161,7 @@ is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint id: HP:0004295 name: Abnormality of the gastric mucosa def: "An abnormality of the gastric mucous membrane." [HPO:probinson] -synonym: "Abnormality of the mucous membrane layer of stomach" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the mucous membrane layer of stomach" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025362 is_a: HP:0002577 ! Abnormality of the stomach created_by: peter @@ -35080,7 +35170,7 @@ creation_date: 2008-02-20T11:12:00Z [Term] id: HP:0004296 name: Abnormality of gastrointestinal vasculature -synonym: "Abnormality of GI blood vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of GI blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025361 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract @@ -35115,7 +35205,8 @@ name: Hernia of the abdominal wall def: "The presence of a hernia in the abdominal wall." [HPO:probinson] comment: A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. subset: hposlim_core -synonym: "Herniated abdominal wall" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Herniated abdominal wall" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:4414 xref: SNOMEDCT_US:128545000 xref: UMLS:C1442978 is_a: HP:0010866 ! Abdominal wall defect @@ -35396,7 +35487,7 @@ creation_date: 2008-02-27T03:22:00Z id: HP:0004326 name: Cachexia def: "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease." [HPO:probinson] -synonym: "Wasting syndrome" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wasting syndrome" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D002100 xref: SNOMEDCT_US:238108007 xref: SNOMEDCT_US:285384003 @@ -35418,11 +35509,12 @@ creation_date: 2008-02-27T04:20:00Z [Term] id: HP:0004328 -name: Abnormality of the anterior segment of the globe +name: Abnormal anterior segment morphology def: "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens)." [HPO:probinson] comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. synonym: "Abnormality of the anterior segment of the eye" EXACT [] synonym: "Abnormality of the anterior segment of the eyeball" EXACT [] +synonym: "Abnormality of the anterior segment of the globe" EXACT [] xref: UMLS:C4025355 is_a: HP:0012374 ! Abnormal globe morphology created_by: peter @@ -35445,12 +35537,12 @@ id: HP:0004330 name: Increased skull ossification def: "An increase in the magnitude or amount of ossification of the skull." [HPO:probinson] subset: hposlim_core -synonym: "Hyperossification of skull" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of skull" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased calcification of skull" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased Mineralization of skull" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Sclerosis of bones of skull" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Sclerosis of skull" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hyperossification of skull" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of skull" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased calcification of skull" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased Mineralization of skull" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Sclerosis of bones of skull" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Sclerosis of skull" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:17401000119104 xref: UMLS:C0020496 xref: UMLS:C4072850 @@ -35466,13 +35558,13 @@ name: Decreased skull ossification alt_id: HP:0003780 def: "A reduction in the magnitude or amount of ossification of the skull." [HPO:probinson] subset: hposlim_core -synonym: "Decreased calcification of skull" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased mineralization of skull" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased calcification of skull" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased mineralization of skull" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Deficient skull ossification" EXACT [] -synonym: "Hypoossification of skull" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Ossification defect of skull" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypoossification of skull" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Ossification defect of skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Poorly mineralized skull" EXACT [] -synonym: "Poorly ossified skull" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Poorly ossified skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Poorly ossified skull bones" EXACT [] xref: SNOMEDCT_US:253980008 xref: UMLS:C0432073 @@ -35519,7 +35611,7 @@ def: "Partial or complete wasting (atrophy) of the skin." [HPO:probinson] subset: hposlim_core synonym: "Atrophic skin" EXACT [] synonym: "Skin atrophy" EXACT [] -synonym: "Skin degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Skin degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10040799 "Skin atrophy" xref: SNOMEDCT_US:399979006 xref: SNOMEDCT_US:400190005 @@ -35894,7 +35986,7 @@ id: HP:0004375 name: Neoplasm of the nervous system def: "A tumor (abnormal growth of tissue) of the nervous system." [HPO:probinson] synonym: "Neoplasia of the nervous system" RELATED [] -synonym: "Nervous system cancer" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Nervous system cancer" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Tumor of the nervous system" EXACT layperson [HPO:sdoelken] xref: MSH:D009423 xref: SNOMEDCT_US:126950007 @@ -35917,7 +36009,7 @@ creation_date: 2008-03-18T07:39:00Z id: HP:0004377 name: Hematological neoplasm def: "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)." [http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms] -synonym: "Blood tumor" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Blood tumor" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D019337 xref: SNOMEDCT_US:129154003 xref: SNOMEDCT_US:269475001 @@ -35968,6 +36060,7 @@ creation_date: 2008-03-18T08:52:00Z id: HP:0004381 name: Supravalvular aortic stenosis def: "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow." [HPO:probinson] +xref: Fyler:1430 xref: MSH:D021921 xref: SNOMEDCT_US:268185002 xref: UMLS:C0003499 @@ -35992,7 +36085,7 @@ creation_date: 2008-03-18T08:55:00Z id: HP:0004383 name: Hypoplastic left heart def: "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta." [HPO:probinson] -synonym: "Underdeveloped left heart" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped left heart" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D018636 xref: SNOMEDCT_US:62067003 xref: UMLS:C0152101 @@ -36008,6 +36101,8 @@ def: "Truncus arteriosus (single great artery leaving the base of the heart, giv comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type I" EXACT [] synonym: "Type 1 truncus arteriosus" EXACT [] +xref: Fyler:0510 +xref: Fyler:510 xref: UMLS:C1834934 is_a: HP:0001660 ! Truncus arteriosus created_by: peter @@ -36066,7 +36161,7 @@ xref: MSH:D007418 xref: SNOMEDCT_US:235825006 xref: SNOMEDCT_US:715201005 xref: UMLS:C0021847 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0002579 ! Gastrointestinal dysmotility created_by: peter creation_date: 2008-03-18T09:03:00Z @@ -36143,7 +36238,7 @@ id: HP:0004397 name: Ectopic anus def: "Abnormal displacement or malposition of the anus." [HPO:probinson] subset: hposlim_core -synonym: "Abnormal anus position" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal anus position" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Anus malposition" EXACT [] xref: SNOMEDCT_US:5153001 xref: UMLS:C0266231 @@ -36238,8 +36333,8 @@ name: Spontaneous, recurrent epistaxis alt_id: HP:0003684 synonym: "Recurrent epistaxes" EXACT [] synonym: "Recurrent epistaxis" EXACT [] -synonym: "Recurring nosebleed" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Spontaneous, recurrent nosebleed" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Recurring nosebleed" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Spontaneous, recurrent nosebleed" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3809715 is_a: HP:0000421 ! Epistaxis created_by: peter @@ -36287,10 +36382,10 @@ id: HP:0004411 name: Deviated nasal septum def: "Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum." [HPO:probinson] subset: hposlim_core -synonym: "Crooked nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Crooked septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Crooked nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deviated nasal septum" EXACT layperson [] -synonym: "Deviated septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Deviated septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:126660000 xref: UMLS:C0549397 is_a: HP:0000419 ! Abnormality of the nasal septum @@ -36301,7 +36396,7 @@ creation_date: 2008-03-18T09:23:00Z id: HP:0004414 name: Abnormality of the pulmonary artery def: "An abnormality of the pulmonary artery." [HPO:probinson] -synonym: "Abnormality of lung artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:128588008 xref: SNOMEDCT_US:198914002 xref: SNOMEDCT_US:36110001 @@ -36314,7 +36409,8 @@ creation_date: 2008-03-18T09:28:00Z id: HP:0004415 name: Pulmonary artery stenosis def: "An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [HPO:probinson] -synonym: "Narrowing of lung artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:1622 xref: MSH:D000071079 xref: SNOMEDCT_US:95441000 xref: UMLS:C0238397 @@ -36326,7 +36422,7 @@ creation_date: 2008-03-18T09:28:00Z id: HP:0004416 name: Precocious atherosclerosis synonym: "Premature atherosclerosis" EXACT [] -synonym: "Premature plaque build-up in arteries" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Premature plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021654 xref: UMLS:C4280264 is_a: HP:0002621 ! Atherosclerosis @@ -36370,7 +36466,7 @@ creation_date: 2008-03-18T09:31:00Z id: HP:0004420 name: Arterial thrombosis def: "The formation of a blood clot inside an artery." [HPO:probinson] -synonym: "Blood clot in artery" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Blood clot in artery" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:65198009 xref: UMLS:C0151942 is_a: HP:0001977 ! Abnormal thrombosis @@ -36392,7 +36488,7 @@ creation_date: 2008-03-18T09:33:00Z id: HP:0004422 name: Biparietal narrowing def: "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators] -synonym: "Decreased width of the skull" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased width of the skull" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1854418 xref: UMLS:C4280532 is_a: HP:0002648 ! Abnormality of calvarial morphology @@ -36416,7 +36512,7 @@ alt_id: HP:0004659 def: "A forehead with abnormal flatness." [HPO:probinson] synonym: "Flat forehead" EXACT layperson [] synonym: "Flattened forehead" EXACT layperson [] -synonym: "Frontal flattening" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Frontal flattening" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1857485 is_a: HP:0000290 ! Abnormality of the forehead created_by: peter @@ -36427,10 +36523,10 @@ id: HP:0004426 name: Abnormality of the cheek def: "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface" [] synonym: "Abnormality of the cheek" EXACT layperson [] -synonym: "Abnormality of the cheeks" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the cheeks" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Anomaly of the cheeks" NARROW layperson [] -synonym: "Deformity of the cheeks" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the cheeks" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Deformity of the cheeks" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the cheeks" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025324 is_a: HP:0000309 ! Abnormality of the midface created_by: peter @@ -36441,9 +36537,9 @@ id: HP:0004428 name: Elfin facies def: "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations." [HPO:probinson] subset: hposlim_core -synonym: "Elf-like facial appearance" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Elf-like facial features" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Leprechaun facies" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Elf-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Elf-like facial features" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Leprechaun facies" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:69288002 xref: UMLS:C0332606 is_a: HP:0001999 ! Abnormal facial shape @@ -36520,14 +36616,14 @@ id: HP:0004437 name: Cranial hyperostosis alt_id: HP:0002698 def: "Excessive growth of the bones of cranium, i.e., of the skull." [HPO:probinson] -synonym: "Enlargement of skull bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Excessive growth of skull bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of cranial bones" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Enlargement of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Excessive growth of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of cranial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of cranial vault" EXACT [] -synonym: "Hypertrophy of cranial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of cranial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of skull bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thick skull bones" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hypertrophy of cranial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of cranial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Thick skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1832451 xref: UMLS:C4280528 xref: UMLS:C4280529 @@ -36542,15 +36638,15 @@ creation_date: 2008-03-18T09:57:00Z id: HP:0004438 name: Hyperostosis frontalis interna def: "Bony overgrowth of the internal (endosteal) surface of the frontal bone." [HPO:probinson] -synonym: "Enlargement of the inner surface of the frontal bone" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Excessive growth of inner surface of the frontal bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of the internal surface of the frontal bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of the internal surface of the frontal bone" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of the internal surface of the frontal bone" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of the inner surface of the frontal bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of the inside of the frontal bone" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Thick inner surface of the frontal bone" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thick internal surface of the frontal bone" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Enlargement of the inner surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Excessive growth of inner surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of the internal surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of the internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of the internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of the inner surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of the inside of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Thick inner surface of the frontal bone" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Thick internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] xref: MSH:D006957 xref: SNOMEDCT_US:82054006 xref: UMLS:C0020494 @@ -36567,7 +36663,7 @@ id: HP:0004439 name: Craniofacial dysostosis def: "A characteristic appearance resulting from defective ossification of craniofacial bones." [HPO:probinson] comment: Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. -synonym: "Crouzon syndrome" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Crouzon syndrome" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D003394 xref: SNOMEDCT_US:28861008 xref: UMLS:C0010273 @@ -36585,8 +36681,8 @@ alt_id: HP:0002739 alt_id: HP:0004441 def: "Premature closure of the coronal suture of skull." [HPO:probinson] subset: hposlim_core -synonym: "Coronal suture craniosynostosis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Coronal suture synostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Craniosynostosis of coronal suture" EXACT [] xref: UMLS:C1856266 is_a: HP:0001363 ! Craniosynostosis @@ -36600,7 +36696,7 @@ def: "A kind of craniosynostosis affecting the sagittal suture." [HPO:probinson] subset: hposlim_core synonym: "Craniosynostosis, sagittal" EXACT [] synonym: "Craniosynostosis, sagittal suture" EXACT [] -synonym: "Sagittal suture synostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Sagittal suture synostosis" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109418001 xref: UMLS:C0432123 is_a: HP:0001363 ! Craniosynostosis @@ -36614,7 +36710,7 @@ alt_id: HP:0004486 def: "A kind of craniosynostosis affecting the lambdoidal suture." [HPO:probinson] subset: hposlim_core synonym: "Lambdoid suture craniosynostosis" EXACT [] -synonym: "Lambdoid suture synostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Lambdoid suture synostosis" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:109417006 xref: UMLS:C1833340 @@ -36640,7 +36736,7 @@ name: Elliptocytosis alt_id: HP:0004837 def: "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear." [HPO:probinson, pmid:16304353] synonym: "Hereditary elliptocytosis" RELATED [] -synonym: "Ovalocytosis" EXACT [https://en.wikipedia.org/wiki/hereditary_elliptocytosis, orcid.org/0000-0001-5208-3432] +synonym: "Ovalocytosis" EXACT [https://en.wikipedia.org/wiki/hereditary_elliptocytosis, ORCID:0000-0001-5208-3432] xref: MSH:D004612 xref: SNOMEDCT_US:178935009 xref: SNOMEDCT_US:191169008 @@ -36691,10 +36787,10 @@ id: HP:0004450 name: Preauricular skin furrow def: "A groove of the skin immediately in front of the ear." [HPO:probinson] synonym: "Preauricular skin furrows" EXACT [] -synonym: "Preauricular skin groove" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Preauricular skin sulcus" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Skin groove behind the ear" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Skin sulcus behind the ear" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Preauricular skin groove" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Preauricular skin sulcus" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Skin groove behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Skin sulcus behind the ear" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1852411 is_a: HP:0000383 ! Abnormality of periauricular region @@ -36702,9 +36798,9 @@ is_a: HP:0000383 ! Abnormality of periauricular region id: HP:0004451 name: Postauricular skin tag def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear)." [HPO:probinson] -synonym: "Postauricular acrochordon" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Postauricular fibroepithelial polyp" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Skin tag behind the ear" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Postauricular acrochordon" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Postauricular fibroepithelial polyp" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Skin tag behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025323 is_a: HP:0000383 ! Abnormality of periauricular region @@ -36774,8 +36870,8 @@ id: HP:0004464 name: Postauricular pit def: "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] subset: hposlim_core -synonym: "Pit behind the ear" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Postauricular earpits" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Pit behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Postauricular earpits" EXACT [ORCID:0000-0001-5889-4463] synonym: "Postauricular fistula" EXACT [] synonym: "Posterior auricular pit" EXACT [] synonym: "Posterior auricular sinus" EXACT [] @@ -36799,7 +36895,7 @@ alt_id: HP:0008552 alt_id: HP:0008578 def: "Small indentation anterior to the insertion of the ear." [HPO:sdoelken, pmid:19152421] comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. -synonym: "Pit in front of the ear" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pit in front of the ear" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Preauricular earpits" EXACT [] synonym: "Preauricular fistulas" EXACT [] synonym: "Preauricular pits" EXACT [] @@ -36819,7 +36915,7 @@ name: Anomalous tracheal cartilage def: "An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue)." [] synonym: "Abnormal tracheal cartilaginous ring" EXACT [] xref: UMLS:C1863406 -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology created_by: HPO:probinson [Term] @@ -36843,7 +36939,7 @@ is_a: HP:0011815 ! Cephalocele id: HP:0004471 name: Aplasia cutis congenita over the scalp vertex def: "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline." [HPO:curators] -synonym: "Absent cutis congenita of vertex" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent cutis congenita of vertex" EXACT [ORCID:0000-0001-5208-3432] synonym: "Aplasia cutis congenita of vertex" EXACT [] xref: UMLS:C1970112 is_a: HP:0007385 ! Aplasia cutis congenita of scalp @@ -36853,15 +36949,15 @@ id: HP:0004472 name: Mandibular hyperostosis def: "Hyperostosis (bony overgrowth) of the mandible." [HPO:probinson] comment: This bundled term will be made obsolete in future versions of the HPO. -synonym: "Excessive growth of mandibular bone" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of lower jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of mandibular bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of lower jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of mandible" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of mandibular bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of mandibular bone" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Thick lower jaw bone" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thick mandibular bone" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Excessive growth of mandibular bone" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of lower jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of mandibular bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of lower jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of mandible" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of mandibular bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of mandibular bone" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Thick lower jaw bone" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Thick mandibular bone" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C4025321 xref: UMLS:C4280521 xref: UMLS:C4280522 @@ -36875,7 +36971,7 @@ alt_id: HP:0004475 alt_id: HP:0004483 def: "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [HPO:probinson] synonym: "Anterior fontanelle open in adults" RELATED [] -synonym: "Front fontanelle stays open" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Front fontanelle stays open" EXACT [ORCID:0000-0001-5889-4463] synonym: "Persistent, open anterior fontanel" EXACT [] xref: UMLS:C1849537 is_a: HP:0001476 ! Delayed closure of the anterior fontanelle @@ -36884,7 +36980,7 @@ is_a: HP:0001476 ! Delayed closure of the anterior fontanelle id: HP:0004476 name: Aplasia cutis congenita over parietal area def: "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area." [HPO:curators] -synonym: "Absent cutis congenita over parietal area" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent cutis congenita over parietal area" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1863492 is_a: HP:0007385 ! Aplasia cutis congenita of scalp @@ -36900,8 +36996,8 @@ name: Progressive macrocephaly alt_id: HP:0000261 def: "The progressive development of an abnormally large skull." [HPO:probinson] synonym: "Macrocephaly, progressive" EXACT [] -synonym: "Progressively abnormally enlarging cranium" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Progressively abnormally enlarging skull" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Progressively abnormally enlarging cranium" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Progressively abnormally enlarging skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1859896 is_a: HP:0000256 ! Macrocephaly @@ -36922,9 +37018,9 @@ is_a: HP:0000256 ! Macrocephaly id: HP:0004484 name: Craniofacial asymmetry def: "Asymmetry of the bones of the skull and the face." [HPO:curators] -synonym: "Abnormality of craniofacial shape" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of craniofacial shape" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven craniofacial structures" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of craniofacial shape" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of craniofacial shape" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven craniofacial structures" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025320 is_a: HP:0000267 ! Cranial asymmetry is_a: HP:0000324 ! Facial asymmetry @@ -36934,9 +37030,9 @@ is_a: HP:0011821 ! Abnormality of facial skeleton id: HP:0004485 name: Cessation of head growth def: "Stagnation of head growth seen as flattening of the head circumference curve." [HPO:probinson] -synonym: "Cranium stopped growing" EXACT [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Head stopped growing" EXACT layperson [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Skull stopped growing" BROAD layperson [HPO:orcid.org/0000-0001-5889-4463] +synonym: "Cranium stopped growing" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Head stopped growing" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Skull stopped growing" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025319 is_a: HP:0005484 ! Postnatal microcephaly @@ -36953,23 +37049,23 @@ id: HP:0004488 name: Macrocephaly at birth def: "The presence of an abnormally large skull with onset at birth." [HPO:probinson] subset: hposlim_core -synonym: "Big cranium present at birth" EXACT [http://orcid.org/0000-0001-5889-4463] -synonym: "Big cranium present since birth" EXACT [http://orcid.org/0000-0001-5889-4463] -synonym: "Big head present at birth" BROAD layperson [http://orcid.org/0000-0001-5889-4463] -synonym: "Big head present since birth" BROAD layperson [http://orcid.org/0000-0001-5889-4463] -synonym: "Big skull present at birth" EXACT layperson [http://orcid.org/0000-0001-5889-4463] -synonym: "Big skull present since birth" EXACT layperson [http://orcid.org/0000-0001-5889-4463] -synonym: "Congenital large cranium" EXACT [http://orcid.org/0000-0001-5889-4463] -synonym: "Congenital large head" BROAD layperson [http://orcid.org/0000-0001-5889-4463] -synonym: "Congenital large skull" EXACT [http://orcid.org/0000-0001-5889-4463] +synonym: "Big cranium present at birth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Big cranium present since birth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Big head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Big head present since birth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Big skull present at birth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Big skull present since birth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Congenital large cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Congenital large head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Congenital large skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Congenital macrocephaly" EXACT [] synonym: "Head circumference large for gestational age" EXACT [] -synonym: "Large cranium present at birth" EXACT [http://orcid.org/0000-0001-5889-4463] -synonym: "Large cranium present since birth" EXACT [http://orcid.org/0000-0001-5889-4463] -synonym: "Large head present at birth" BROAD layperson [http://orcid.org/0000-0001-5889-4463] -synonym: "Large head present since birth" BROAD layperson [http://orcid.org/0000-0001-5889-4463] -synonym: "Large skull present at birth" EXACT layperson [http://orcid.org/0000-0001-5889-4463] -synonym: "Large skull present since birth" EXACT layperson [http://orcid.org/0000-0001-5889-4463] +synonym: "Large cranium present at birth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large cranium present since birth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Large head present since birth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Large skull present at birth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Large skull present since birth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1836599 is_a: HP:0000256 ! Macrocephaly @@ -36978,14 +37074,14 @@ id: HP:0004490 name: Calvarial hyperostosis def: "Excessive growth of the calvaria." [HPO:probinson] comment: The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw. -synonym: "Enlargement of calvarial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Excessive growth of calvarial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of calvarial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of calvarial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of calvarial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of calvarial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of skullcap" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thick calvarial bones" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Enlargement of calvarial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Excessive growth of calvarial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of calvarial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of calvarial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of calvarial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of calvarial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of skullcap" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thick calvarial bones" BROAD [ORCID:0000-0001-5889-4463] xref: MSH:C537963 xref: UMLS:C1863351 xref: UMLS:C4280519 @@ -37017,13 +37113,13 @@ id: HP:0004493 name: Craniofacial hyperostosis def: "Excessive growth of the craniofacial bones." [HPO:probinson] subset: hposlim_core -synonym: "Enlargement of craniofacial bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Excessive growth of craniofacial bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of craniofacial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of craniofacial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of craniofacial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of craniofacial bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thick craniofacial bones" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Enlargement of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Excessive growth of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of craniofacial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of craniofacial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of craniofacial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Thick craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1868085 xref: UMLS:C4280516 xref: UMLS:C4280517 @@ -37050,7 +37146,7 @@ is_a: HP:0000453 ! Choanal atresia [Term] id: HP:0004499 name: Chronic rhinitis due to narrow nasal airway -synonym: "Chronic nasal inflammation due to narrow nasal airway" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Chronic nasal inflammation due to narrow nasal airway" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025318 is_a: HP:0002257 ! Chronic rhinitis @@ -37058,8 +37154,8 @@ is_a: HP:0002257 ! Chronic rhinitis id: HP:0004502 name: Bilateral choanal atresia def: "Bilateral absence (atresia) of the posterior nasal aperture (choana)." [HPO:probinson] -synonym: "Bilateral blockage of the rear opening of the nasal cavity" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Bilateral obstruction of the rear opening of the nasal cavity" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bilateral blockage of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Bilateral obstruction of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025317 is_a: HP:0000453 ! Choanal atresia @@ -37082,9 +37178,9 @@ is_a: HP:0006476 ! Abnormality of the pancreatic islet cells id: HP:0004523 name: Long eyebrows def: "Increased length of the hairs of the eyebrows." [HPO:probinson] -synonym: "Elongated eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased horizontal length of eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased transverse length of eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Elongated eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased horizontal length of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased transverse length of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long eyebrows" EXACT layperson [] xref: UMLS:C3280131 is_a: HP:0000534 ! Abnormal eyebrow morphology @@ -37093,7 +37189,7 @@ is_a: HP:0000534 ! Abnormal eyebrow morphology id: HP:0004524 name: Temporal hypotrichosis def: "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)." [HPO:curators] -synonym: "Reduced hair growth in temporal region" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Reduced hair growth in temporal region" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025316 is_a: HP:0011361 ! Congenital abnormal hair pattern @@ -37154,15 +37250,15 @@ is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004544 name: Pointed frontal hairline -synonym: "Pointed hairline at front of head" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pointed hairline at front of head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025312 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0004552 name: Scarring alopecia of scalp -synonym: "Cicatricial alopecia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hair loss on scalp from scarring condition" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cicatricial alopecia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hair loss on scalp from scarring condition" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3806301 is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0002293 ! Alopecia of scalp @@ -37202,14 +37298,14 @@ is_a: HP:0004568 ! Beaking of vertebral bodies id: HP:0004563 name: Increased spinal bone density def: "Increased bone density affecting the bones of the spine (vertebral column)." [HPO:curators] -synonym: "Compact spinal bone" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Concrete spinal bone" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dense spinal bone" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Eburnation of spinal bone" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased density of spinal bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Compact spinal bone" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Concrete spinal bone" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Dense spinal bone" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Eburnation of spinal bone" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased density of spinal bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "increased spinal bone density Z" RELATED [] -synonym: "Ivory spinal bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Sclerosis of spinal bone" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Ivory spinal bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Sclerosis of spinal bone" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4020828 xref: UMLS:C4280254 xref: UMLS:C4280513 @@ -37341,7 +37437,7 @@ is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0004590 name: Hypoplastic sacrum -synonym: "Small sacrum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small sacrum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1970816 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum @@ -37542,7 +37638,7 @@ is_a: HP:0004568 ! Beaking of vertebral bodies id: HP:0004631 name: Decreased cervical spine flexion due to contractures of posterior cervical muscles synonym: "Contracture of post-cervical muscles" EXACT [] -synonym: "Inability to touch chin to chest" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Inability to touch chin to chest" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1839653 xref: UMLS:C4280512 is_a: HP:0001371 ! Flexion contracture @@ -37560,7 +37656,7 @@ is_a: HP:0003422 ! Vertebral segmentation defect id: HP:0004633 name: Lower thoracic kyphosis def: "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump." [HPO:probinson] -synonym: "Round mid-back" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Round mid-back" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1864361 is_a: HP:0002942 ! Thoracic kyphosis @@ -37581,7 +37677,7 @@ is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004637 name: Decreased cervical spine mobility -synonym: "Limited neck movement" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Limited neck movement" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1859692 is_a: HP:0003319 ! Abnormality of the cervical spine @@ -37591,9 +37687,9 @@ name: Elevated amniotic fluid alpha-fetoprotein alt_id: HP:0005985 def: "An elevation of alpha-feto protein measured in the amniotic fluid." [HPO:curators] comment: This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele. -synonym: "Elevated amniotic fluid alpha fetal protein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, orcid.org/0000-0001-5208-3432] -synonym: "Elevated amniotic fluid alpha-1-fetoprotein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, orcid.org/0000-0001-5208-3432] -synonym: "Elevated amniotic fluid alpha-fetoglobulin" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, orcid.org/0000-0001-5208-3432] +synonym: "Elevated amniotic fluid alpha fetal protein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432] +synonym: "Elevated amniotic fluid alpha-1-fetoprotein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432] +synonym: "Elevated amniotic fluid alpha-fetoglobulin" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432] xref: UMLS:C1839860 is_a: HP:0006254 ! Elevated alpha-fetoprotein @@ -37601,12 +37697,12 @@ is_a: HP:0006254 ! Elevated alpha-fetoprotein id: HP:0004646 name: Hypoplasia of the nasal bone def: "Underdevelopment of the nasal bone." [HPO:probinson] -synonym: "Decreased size of nasal bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of nasal bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic nasal bone" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic nasal bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Nasal bone hypoplasia" EXACT [] -synonym: "Small nasal bone" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of nasal bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Small nasal bone" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021651 is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone @@ -37615,12 +37711,12 @@ is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone id: HP:0004660 name: Hypoplasia of facial musculature def: "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] -synonym: "Atrophy of facial musculature" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of facial musculature" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic facial musculature" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small facial muscles" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Atrophy of facial musculature" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of facial musculature" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic facial musculature" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small facial muscles" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1834042 xref: UMLS:C4280509 xref: UMLS:C4280510 @@ -37632,7 +37728,7 @@ id: HP:0004661 name: Frontalis muscle weakness def: "Reduced strength of the frontalis muscle (which is located on the forehead)." [HPO:curators] synonym: "Weak frontalis muscle" EXACT [] -synonym: "Weakness of forehead muscle" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Weakness of forehead muscle" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1859438 is_a: HP:0010628 ! Facial palsy is_a: HP:3000004 ! Abnormality of frontalis muscle belly @@ -37662,7 +37758,7 @@ is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0004679 name: Large tarsal bones -synonym: "Large ankle bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Large ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1859116 is_a: HP:0001850 ! Abnormality of the tarsal bones @@ -37671,7 +37767,7 @@ id: HP:0004681 name: Deep longitudinal plantar crease def: "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot." [pmid:19125433] subset: hposlim_core -synonym: "Foot crease" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Foot crease" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Longitudinal groove on soles" EXACT [] xref: UMLS:C1859223 xref: UMLS:C4280508 @@ -37692,7 +37788,7 @@ name: Short third metatarsal alt_id: HP:0010673 def: "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone." [HPO:probinson] synonym: "Hypoplasia of the 3rd metatarsal bone" EXACT [] -synonym: "Short 3rd long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021650 is_a: HP:0010672 ! Abnormality of the third metatarsal bone is_a: HP:0010743 ! Short metatarsal @@ -37700,7 +37796,7 @@ is_a: HP:0010743 ! Short metatarsal [Term] id: HP:0004688 name: Irregular tarsal bones -synonym: "Abnormal shape of ankle bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal shape of ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1855240 is_a: HP:0001850 ! Abnormality of the tarsal bones @@ -37709,7 +37805,7 @@ id: HP:0004689 name: Short fourth metatarsal def: "Short fourth metatarsal bone." [HPO:probinson] synonym: "Bilateral fourth metatarsal shortening" EXACT [] -synonym: "Short 4th long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short fourth metatarsals" RELATED [HPO:skoehler] synonym: "Short fourth metatarsus" EXACT [] xref: UMLS:C1848514 @@ -37746,7 +37842,7 @@ synonym: "Cutaneous syndactyly of second and third toes" EXACT [] synonym: "partial or complete syndactyly 2nd-3rd toes" EXACT [] synonym: "Syndactyly of second and third toes" EXACT [] synonym: "Toe syndactyly, 2-3" EXACT [HPO:skoehler] -synonym: "Webbed 2nd and 3rd toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 2nd and 3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205145001 xref: UMLS:C0432040 is_a: HP:0001770 ! Toe syndactyly @@ -37759,7 +37855,7 @@ alt_id: HP:0005861 def: "Syndactyly with fusion of toes four and five." [HPO:sdoelken] synonym: "Symmetric syndactyly, toes 4 and 5" EXACT [] synonym: "Syndactyly of toes 4 and 5" EXACT [] -synonym: "Webbed 4th-5th toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 4th-5th toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837836 is_a: HP:0001770 ! Toe syndactyly @@ -37790,7 +37886,7 @@ alt_id: HP:0004702 alt_id: HP:0010671 def: "Short (hypoplastic) fifth metatarsal bone." [HPO:probinson] synonym: "Hypoplasia of the fifth metatarsal bone" EXACT [] -synonym: "Short 5th long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021649 is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone is_a: HP:0010743 ! Short metatarsal @@ -37811,7 +37907,7 @@ is_a: HP:0012210 ! Abnormal renal morphology id: HP:0004713 name: Reversible renal failure def: "Acute renal failure with resolution of manifestations." [HPO:probinson] -synonym: "Reversible kidney failure" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Reversible kidney failure" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Reversible renal failure" EXACT layperson [] xref: UMLS:C1843276 is_a: HP:0000083 ! Renal insufficiency @@ -37844,7 +37940,7 @@ id: HP:0004724 name: Calcium nephrolithiasis def: "The presence of calcium-containing calculi (stones) in the kidneys." [HPO:probinson] comment: The overwhelming majority of renal calculi contain calcium. -synonym: "Calcium kidney stone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Calcium kidney stone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1855801 is_a: HP:0000787 ! Nephrolithiasis @@ -37944,6 +38040,9 @@ is_a: HP:0001692 ! Atrial arrhythmia [Term] id: HP:0004751 name: Paroxysmal ventricular tachycardia +alt_id: HP:0005141 +def: "Episodes of ventricular tachycardia that have a sudden onset and ending." [] +synonym: "Episodes of ventricular tachycardia" EXACT [] xref: SNOMEDCT_US:66657009 xref: UMLS:C0030591 is_a: HP:0004756 ! Ventricular tachycardia @@ -37985,6 +38084,8 @@ is_a: HP:0005115 ! Supraventricular arrhythmia id: HP:0004756 name: Ventricular tachycardia def: "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)." [] +comment: Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease. +xref: Fyler:7160 xref: MSH:D017180 xref: SNOMEDCT_US:25569003 xref: UMLS:C0042514 @@ -38028,9 +38129,10 @@ id: HP:0004762 name: Hypoplasia of right ventricle alt_id: HP:0004951 def: "Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells." [MP:0010422] -synonym: "Heart right ventricle hypoplasia" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Small right heart chamber" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Underdeveloped right heart chamber" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Heart right ventricle hypoplasia" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Small right heart chamber" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Underdeveloped right heart chamber" EXACT layperson [ORCID:0000-0001-6908-9849] +xref: Fyler:1821 xref: UMLS:C4082954 is_a: HP:0001707 ! Abnormal right ventricle morphology @@ -38040,7 +38142,7 @@ name: Paroxysmal supraventricular tachycardia alt_id: HP:0004765 def: "An episodic form of supraventricular tachycardia with abrupt onset and termination." [pmid:18025404] comment: PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). -synonym: "Episodic rapid heart beat" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Episodic rapid heart beat" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Episodic supraventricular tachycardia" EXACT [] xref: SNOMEDCT_US:67198005 xref: UMLS:C0030590 @@ -38060,8 +38162,8 @@ is_a: HP:0001634 ! Mitral valve prolapse id: HP:0004768 name: Sparse anterior scalp hair def: "Decreased number of head hairs per unit area on the anterior region of the scalp." [HPO:probinson] -synonym: "Sparse scalp hair at front of head" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin scalp hair at front of head" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Sparse scalp hair at front of head" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin scalp hair at front of head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866246 is_a: HP:0000599 ! Abnormality of the frontal hairline is_a: HP:0002209 ! Sparse scalp hair @@ -38086,9 +38188,9 @@ is_a: HP:0002299 ! Brittle hair id: HP:0004780 name: Elbow hypertrichosis def: "Excessive, increased hair growth located in the elbow region." [HPO:probinson] -synonym: "Hairy elbow" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Hairy elbow syndrome" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Hypertrichosis cubiti" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Hairy elbow" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Hairy elbow syndrome" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Hypertrichosis cubiti" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025295 is_a: HP:0000998 ! Hypertrichosis @@ -38098,7 +38200,7 @@ name: Hypotrichosis of the scalp alt_id: HP:0004526 def: "Reduced or lacking hair growth of the scalp." [HPO:curators] synonym: "Hypotrichosis on scalp" EXACT [] -synonym: "Reduced/lack of hair on scalp" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Reduced/lack of hair on scalp" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Scalp hypotrichosis" EXACT [] xref: UMLS:C1873509 is_a: HP:0001006 ! Hypotrichosis @@ -38157,7 +38259,7 @@ id: HP:0004789 name: Lactose intolerance def: "An inability to digest lactose." [HPO:probinson] synonym: "Lactose intolerance" EXACT layperson [] -synonym: "Milk intolerance" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Milk intolerance" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007787 xref: SNOMEDCT_US:267425008 xref: SNOMEDCT_US:700094005 @@ -38168,7 +38270,7 @@ is_a: HP:0002024 ! Malabsorption id: HP:0004790 name: Hypoplasia of the small intestine def: "Underdevelopment of the small intestine." [HPO:probinson] -synonym: "Underdeveloped small intestine" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped small intestine" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025291 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0005245 ! Intestinal hypoplasia @@ -38177,8 +38279,8 @@ is_a: HP:0005245 ! Intestinal hypoplasia id: HP:0004791 name: Esophageal ulceration def: "Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus." [HPO:probinson] -synonym: "Esophagus ulcer" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Oesophagus ulceration" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Esophagus ulcer" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Oesophagus ulceration" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:30811009 xref: UMLS:C0151970 is_a: HP:0002031 ! Abnormality of esophagus morphology @@ -38213,7 +38315,7 @@ is_a: HP:0006753 ! Neoplasm of the stomach id: HP:0004796 name: Gastrointestinal obstruction synonym: "Gastrointestinal obstruction" EXACT layperson [] -synonym: "Obstruction in digestive tract" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Obstruction in digestive tract" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:126765001 xref: UMLS:C0236124 is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract @@ -38358,7 +38460,7 @@ is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004818 name: Paroxysmal nocturnal hemoglobinuria -synonym: "Paroxysmal nocturnal haemoglobinuria" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Paroxysmal nocturnal haemoglobinuria" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D006457 xref: SNOMEDCT_US:1963002 xref: UMLS:C0024790 @@ -38374,7 +38476,7 @@ is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004820 name: Acute myelomonocytic leukemia -def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors." [] {comment="NCIT:C7463"} +def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors." [NCIT:C7463] xref: MSH:D015479 xref: SNOMEDCT_US:110005000 xref: SNOMEDCT_US:277601005 @@ -38512,7 +38614,7 @@ name: Acute monocytic leukemia alt_id: HP:0004833 def: "The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation." [PMID:24904835] synonym: "Acute monoblastic leukemia" EXACT [] -synonym: "AML" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "AML" EXACT HP:0045077 [] xref: MSH:D007948 xref: SNOMEDCT_US:22331004 xref: SNOMEDCT_US:413441006 @@ -38543,7 +38645,7 @@ is_a: HP:0006721 ! Acute lymphoblastic leukemia id: HP:0004850 name: Recurrent deep vein thrombosis def: "Repeated episodes of the formation of a blot clot in a deep vein." [HPO:probinson] -synonym: "Recurrent deep vein blood clot" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Recurrent deep vein blood clot" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Recurrent venous thrombosis" EXACT [] xref: SNOMEDCT_US:710167004 xref: UMLS:C1735901 @@ -38692,7 +38794,7 @@ is_a: HP:0002108 ! Spontaneous pneumothorax id: HP:0004878 name: Intercostal muscle weakness def: "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall." [HPO:probinson] -synonym: "Muscle weakness between ribs" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Muscle weakness between ribs" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C0240017 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0001324 ! Muscle weakness @@ -38703,7 +38805,7 @@ id: HP:0004879 name: Intermittent hyperventilation def: "Episodic hyperventilation." [HPO:probinson] synonym: "Episodic hyperventilation" EXACT [] -synonym: "Intermittent overbreathing" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Intermittent overbreathing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:423427003 xref: UMLS:C1828017 is_a: HP:0002883 ! Hyperventilation @@ -38718,15 +38820,15 @@ is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004881 name: Episodic hypoventilation -synonym: "Episodic slow breathing" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Episodic under breathing" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Episodic slow breathing" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Episodic under breathing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844946 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0004885 name: Episodic respiratory distress -synonym: "Episodic difficulty breathing" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Episodic difficulty breathing" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "respiratory distress, episodic" EXACT [] xref: UMLS:C1844945 is_a: HP:0002098 ! Respiratory distress @@ -38757,7 +38859,7 @@ name: Elevated pulmonary artery pressure alt_id: HP:0004958 def: "An abnormally elevated blood pressure in the circulation of the pulmonary artery." [HPO:probinson] synonym: "Elevated lung artery pressure" EXACT [] -synonym: "increased pulmonary artery pressure" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "increased pulmonary artery pressure" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805917 is_a: HP:0030875 ! Abnormality of pulmonary circulation @@ -38800,7 +38902,7 @@ is_a: HP:0003128 ! Lactic acidosis id: HP:0004901 name: Exercise-induced lactic acidemia def: "A form of lactic acidemia that occurs following exercise or exertion." [HPO:probinson, pmid:15308499] -synonym: "Exercise-induced lactic acidosis" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Exercise-induced lactic acidosis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025277 is_a: HP:0003128 ! Lactic acidosis @@ -38882,7 +38984,7 @@ name: Recurrent infantile hypoglycemia alt_id: HP:0004917 def: "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period." [HPO:probinson] synonym: "Episodic infantile hypoglycemia" EXACT [] -synonym: "Recurrent low blood sugar in infant" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Recurrent low blood sugar in infant" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021644 is_a: HP:0001988 ! Recurrent hypoglycemia @@ -38992,7 +39094,7 @@ replaced_by: HP:0001677 [Term] id: HP:0004930 name: Abnormality of the pulmonary vasculature -synonym: "Abnormality of the lung blood vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the lung blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025271 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0002597 ! Abnormality of the vasculature @@ -39003,7 +39105,7 @@ creation_date: 2008-03-26T04:07:00Z id: HP:0004931 name: Arteriosclerosis of small cerebral arteries def: "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain." [HPO:probinson] -synonym: "Hardened artery wall in small cerebral arteries" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hardened artery wall in small cerebral arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025270 xref: UMLS:C4280505 is_a: HP:0002634 ! Arteriosclerosis @@ -39017,6 +39119,7 @@ comment: According to the Stanford classification, type A aortic dissection affe synonym: "Type A aortic dissection" EXACT [] xref: UMLS:C1836653 is_a: HP:0002647 ! Aortic dissection +is_a: HP:0031784 ! Abnormal ascending aorta morphology [Term] id: HP:0004934 @@ -39043,7 +39146,7 @@ is_a: HP:0030966 ! Abnormal pulmonary artery morphology id: HP:0004936 name: Venous thrombosis def: "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow." [HPO:probinson] -synonym: "Blood clot in vein" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Blood clot in vein" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D020246 xref: SNOMEDCT_US:111293003 xref: UMLS:C0042487 @@ -39061,7 +39164,7 @@ is_a: HP:0004927 ! Pulmonary artery dilatation id: HP:0004938 name: Tortuous cerebral arteries def: "Excessive bending, twisting, and winding of a cerebral artery." [HPO:probinson] -synonym: "Twisted cerebral arteries" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Twisted cerebral arteries" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1836791 is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0009145 ! Abnormal cerebral artery morphology @@ -39090,6 +39193,8 @@ alt_id: HP:0001724 def: "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter." [] comment: Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym. synonym: "Aortic dilatation" EXACT [] +xref: Fyler:2301 +xref: Fyler:2708 xref: MSH:D001014 xref: SNOMEDCT_US:67362008 xref: UMLS:C0003486 @@ -39100,7 +39205,7 @@ is_a: HP:0002617 ! Dilatation id: HP:0004943 name: Accelerated atherosclerosis def: "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors." [Accelerated Atherosclerosis. (n.d.) Segen's Medical Dictionary. (2011).] -synonym: "Accelerated plaque build-up in arteries" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Accelerated plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849618 xref: UMLS:C4280504 is_a: HP:0002621 ! Atherosclerosis @@ -39112,7 +39217,7 @@ alt_id: HP:0002618 alt_id: HP:0006816 def: "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. -synonym: "Brain aneurysm" BROAD layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Brain aneurysm" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Cerebral aneurysm" NARROW [] synonym: "Cerebral artery aneurysm" NARROW [] synonym: "Intracranial aneurysm" BROAD [] @@ -39147,7 +39252,7 @@ is_a: HP:0100026 ! Arteriovenous malformation id: HP:0004948 name: Vascular tortuosity def: "Abnormal twisting of arteries or veins." [PMID:22433458] -synonym: "Twisted blood vessels" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Twisted blood vessels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C2673776 is_a: HP:0025015 ! Abnormal vascular morphology @@ -39166,7 +39271,7 @@ comment: The ankle-brachial index (ABI; the ratio of systolic blood pressure in synonym: "Arterial disease of legs" RELATED [] synonym: "Occlusive arterial disease" RELATED [] synonym: "Occlusive vascular disease" RELATED [] -synonym: "Peripheral artery disease" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Peripheral artery disease" EXACT [ORCID:0000-0001-6908-9849] synonym: "Peripheral artery occlusive disease" RELATED [] synonym: "Peripheral vascular disease" RELATED [HPO:probinson] xref: MSH:D016491 @@ -39204,7 +39309,7 @@ name: Generalized arterial tortuosity def: "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries." [HPO:probinson] synonym: "Arterial tortuosity, general" RELATED [HPO:skoehler] synonym: "Arterial tortuosity, generalized" RELATED [HPO:skoehler] -synonym: "Generalized twisted arteries" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Generalized twisted arteries" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1836651 xref: UMLS:C3279191 is_a: HP:0005116 ! Arterial tortuosity @@ -39215,6 +39320,7 @@ name: Descending thoracic aorta aneurysm alt_id: HP:0004954 def: "An abnormal localized widening (dilatation) of the descending thoracic aorta." [] synonym: "Dilatation of the descending thoracic aorta" BROAD [] +xref: Fyler:2754 xref: UMLS:C4025266 is_a: HP:0012727 ! Thoracic aortic aneurysm created_by: peter @@ -39225,8 +39331,8 @@ id: HP:0004960 name: Absent pulmonary artery def: "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery." [HPO:probinson, pmid:17192541] comment: This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP. -synonym: "Absent lung artery" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Missing pulmonary artery" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Absent lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Missing pulmonary artery" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:86252004 xref: UMLS:C0265905 is_a: HP:0030966 ! Abnormal pulmonary artery morphology @@ -39274,7 +39380,7 @@ is_a: HP:0012456 ! Medial arterial calcification id: HP:0004968 name: Recurrent cerebral hemorrhage def: "Recurrent bleeding into the parenchyma of the brain." [DDD:dbrown] -synonym: "Recurrent hemorrhagic stroke" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Recurrent hemorrhagic stroke" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025264 is_a: HP:0001342 ! Cerebral hemorrhage @@ -39283,7 +39389,7 @@ id: HP:0004969 name: Peripheral pulmonary artery stenosis alt_id: HP:0004957 def: "Stenosis of a peripheral branch of the pulmonary artery." [HPO:probinson] -synonym: "Narrowing of peripheral lung artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of peripheral lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "peripheral pulmonary stenosis" EXACT [] synonym: "Peripheral pulmonic stenosis" EXACT [] xref: SNOMEDCT_US:253631001 @@ -39302,6 +39408,8 @@ synonym: "Ascending aorta dilation" BROAD [] synonym: "Ascending aortic aneurysm" EXACT [] synonym: "Ascending aortic dilation" EXACT [] synonym: "Dilatation of ascending aorta" EXACT [] +xref: Fyler:2310 +xref: Fyler:2701 xref: SNOMEDCT_US:253645007 xref: UMLS:C0345049 is_a: HP:0012727 ! Thoracic aortic aneurysm @@ -39310,8 +39418,9 @@ is_a: HP:0012727 ! Thoracic aortic aneurysm id: HP:0004971 name: Pulmonary artery hypoplasia def: "Underdevelopment of the pulmonary artery." [HPO:probinson] -synonym: "Underdeveloped lung artery" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped pulmonary artery" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped pulmonary artery" EXACT [ORCID:0000-0001-6908-9849] +xref: Fyler:2966 xref: SNOMEDCT_US:54682008 xref: UMLS:C0265910 is_a: HP:0030966 ! Abnormal pulmonary artery morphology @@ -39337,7 +39446,7 @@ alt_id: HP:0006422 def: "Flaring of distal femur." [HPO:probinson] synonym: "Erlenmeyer flask deformity of distal femur" EXACT [] synonym: "Erlenmeyer flask femora" EXACT [] -synonym: "Erlenmeyer flask shaped thighbone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Erlenmeyer flask shaped thighbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1855895 is_a: HP:0002823 ! Abnormality of femur morphology @@ -39366,7 +39475,7 @@ is_a: HP:0003974 ! Absent radius id: HP:0004979 name: Metaphyseal sclerosis def: "Abnormally increased density of metaphyseal bone." [HPO:probinson] -synonym: "Increased bone density in wide portion of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerotic metaphyses" EXACT [] xref: UMLS:C3552526 is_a: HP:0000944 ! Abnormality of the metaphysis @@ -39417,7 +39526,7 @@ is_a: HP:0008905 ! Rhizomelia id: HP:0004993 name: Slender long bones with narrow diaphyses def: "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones." [HPO:probinson] -synonym: "Slender long bones with narrow shaft" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slender long bones with narrow shaft" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2675547 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0003100 ! Slender long bone @@ -39441,8 +39550,8 @@ is_a: HP:0002999 ! Patellar dislocation id: HP:0005003 name: Aplasia/Hypoplasia of the capital femoral epiphysis def: "Absence or underdevelopment of the proximal epiphysis of the femur." [HPO:probinson] -synonym: "Absent/small end part of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped end part of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025261 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010577 ! Absent epiphyses @@ -39460,7 +39569,7 @@ id: HP:0005005 name: Femoral bowing present at birth, straightening with time def: "Congenital onset bending or abnormal curvature of the femur that normalizes with age." [HPO:probinson] comment: This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement. -synonym: "Bowing of thighbone at birth, straightening with time" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bowing of thighbone at birth, straightening with time" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1833754 is_a: HP:0002980 ! Femoral bowing @@ -39475,7 +39584,7 @@ is_a: HP:0001373 ! Joint dislocation id: HP:0005009 name: Dumbbell-shaped humerus def: "The humerus is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] -synonym: "Dumbbell-shaped long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dumbbell-shaped long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025259 is_a: HP:0000947 ! Dumbbell-shaped long bone @@ -39518,7 +39627,7 @@ is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0005021 name: Bilateral elbow dislocations -synonym: "Dislocated elbows on both sides" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dislocated elbows on both sides" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3278429 is_a: HP:0003042 ! Elbow dislocation @@ -39538,8 +39647,8 @@ is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0005028 name: Widened proximal tibial metaphyses -synonym: "Wide innermost wide portion of shankbone bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide innermost wide portion of shinbone bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide innermost wide portion of shankbone bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide innermost wide portion of shinbone bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836187 is_a: HP:0003016 ! Metaphyseal widening @@ -39557,7 +39666,7 @@ is_a: HP:0003022 ! Hypoplasia of the ulna id: HP:0005035 name: Shortening of all phalanges of the toes def: "Developmental hypoplasia (shortening) of all phalanges of the foot." [HPO:probinson] -synonym: "Short toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025257 is_a: HP:0001831 ! Short toe is_a: HP:0010161 ! Abnormality of the phalanges of the toes @@ -39590,7 +39699,7 @@ name: Irregular capital femoral epiphysis alt_id: HP:0008806 def: "Irregular surface of the normally relatively smooth capital femoral epiphysis." [HPO:probinson] synonym: "Irregular capital femoral epiphyses" RELATED [] -synonym: "Irregular end part of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular proximal femoral epiphyses" EXACT [] xref: UMLS:C4020825 is_a: HP:0006361 ! Irregular femoral epiphysis @@ -39621,7 +39730,7 @@ is_a: HP:0003034 ! Diaphyseal sclerosis id: HP:0005048 name: Synostosis of carpal bones synonym: "Fusion of carpal bones" EXACT [] -synonym: "Fusion of wrist bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fusion of wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836193 is_a: HP:0009702 ! Carpal synostosis @@ -39644,6 +39753,7 @@ is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0005059 name: Arthralgia/arthritis +synonym: "Joint pain/Joint inflammation" EXACT layperson [] xref: UMLS:C4025256 is_a: HP:0001369 ! Arthritis is_a: HP:0002829 ! Arthralgia @@ -39658,7 +39768,7 @@ is_a: HP:0006376 ! Limited elbow flexion [Term] id: HP:0005063 name: Fragmented, irregular epiphyses -synonym: "Fragmented, irregular end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmented, irregular end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867494 is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0100168 ! Fragmented epiphyses @@ -39666,7 +39776,7 @@ is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0005066 name: Cone-shaped epiphyses fused within their metaphyses -synonym: "Cone-shaped end part of long bone fused within their wide portion of wide bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of long bone fused within their wide portion of wide bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025255 is_a: HP:0010579 ! Cone-shaped epiphysis @@ -39674,7 +39784,7 @@ is_a: HP:0010579 ! Cone-shaped epiphysis id: HP:0005067 name: Proximal fibular overgrowth def: "Overgrowth of the proximal part of the fibula." [HPO:curators] -synonym: "Overgrowth of innermost part of calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Overgrowth of innermost part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2673395 is_a: HP:0003099 ! Fibular overgrowth @@ -39702,7 +39812,7 @@ id: HP:0005072 name: Hyperextensibility at wrists def: "The ability of the wrist joints to move beyond their normal range of motion." [HPO:curators] synonym: "Increased laxity of wrists" EXACT [] -synonym: "Increased wrist mobility" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased wrist mobility" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850853 is_a: HP:0001382 ! Joint hypermobility @@ -39751,7 +39861,7 @@ is_a: HP:0002980 ! Femoral bowing id: HP:0005092 name: Streaky metaphyseal sclerosis def: "The presence of streaks (bands) of abnormally increased density of metaphyseal bone." [HPO:probinson] -synonym: "Streak increase in bone density in wide portion of wide bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Streak increase in bone density in wide portion of wide bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025253 is_a: HP:0004979 ! Metaphyseal sclerosis @@ -39836,11 +39946,11 @@ creation_date: 2008-03-25T05:09:00Z id: HP:0005104 name: Hypoplastic nasal septum def: "Underdevelopment of the nasal septum." [HPO:curators] -synonym: "Decreased size of nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of septum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Small nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of septum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1861328 is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum created_by: peter @@ -39850,10 +39960,11 @@ creation_date: 2008-03-25T05:15:00Z id: HP:0005105 name: Abnormal nasal morphology comment: This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. -synonym: "Abnormal nose morphology" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Abnormal of morphology of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal of nasal shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal of shape of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal nose morphology" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Abnormal of morphology of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormal of nasal shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormal of shape of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +xref: Fyler:4870 xref: UMLS:C4025252 is_a: HP:0000366 ! Abnormality of the nose created_by: peter @@ -39939,6 +40050,7 @@ alt_id: HP:0004965 def: "An abnormal localized widening (dilatation) of the aortic arch." [] synonym: "Aortic arch dilatation" BROAD [] synonym: "Dilatation of the aortic arch" BROAD [] +xref: Fyler:2706 xref: UMLS:C1851119 is_a: HP:0012727 ! Thoracic aortic aneurysm created_by: peter @@ -39987,7 +40099,7 @@ id: HP:0005120 name: Abnormal cardiac atrium morphology def: "Any structural abnormality of a cardiac atrium." [HPO:probinson] synonym: "Abnormality of cardiac atrium morphology" EXACT [] -synonym: "Abnormality of heart atrium" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of heart atrium" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025246 is_a: HP:0001627 ! Abnormal heart morphology created_by: peter @@ -40028,6 +40140,8 @@ id: HP:0005133 name: Right ventricular dilatation def: "Enlargement of the chamber of the right ventricle." [HPO:probinson, pmid:17715105] synonym: "Dilated heart right ventricle" EXACT [] +xref: Fyler:1827 +xref: Fyler:2333 xref: SNOMEDCT_US:253522006 xref: UMLS:C0344893 is_a: HP:0001707 ! Abnormal right ventricle morphology @@ -40063,10 +40177,9 @@ is_a: HP:0004382 ! Mitral valve calcification [Term] id: HP:0005141 -name: Episodes of ventricular tachycardia -def: "Abnormal condition in which the ventricles of the heart beat abnormally fast." [PMID:14196126] -xref: UMLS:C1832602 -is_a: HP:0004756 ! Ventricular tachycardia +name: obsolete Episodes of ventricular tachycardia +is_obsolete: true +replaced_by: HP:0004751 [Term] id: HP:0005143 @@ -40087,7 +40200,7 @@ is_a: HP:0010438 ! Abnormal ventricular septum morphology id: HP:0005145 name: Coronary artery stenosis def: "Abnormal narrowing of the coronary artery." [] -synonym: "Narrowing of coronary artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of coronary artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D023921 xref: SNOMEDCT_US:233970002 xref: UMLS:C0242231 @@ -40164,6 +40277,7 @@ name: Hypoplastic left atrium def: "Underdeveloped, small left heart atrium" [] synonym: "Left atrium hypoplasia" EXACT [] synonym: "Underdeveloped left heart atrium" EXACT [] +xref: Fyler:3040 xref: UMLS:C1970625 is_a: HP:0025579 ! Abnormal left atrium morphology @@ -40185,6 +40299,8 @@ def: "Total anomalous pulmonary venous return refers to a congenital malformatio comment: Pulmonary veins drain through abnormal connections to the right atrium. synonym: "Total anomalous pulmonary venous connection" EXACT [] synonym: "Total anomalous pulmonary venous drainage" EXACT [] +xref: Fyler:0900 +xref: Fyler:900 xref: MSH:D012587 xref: SNOMEDCT_US:111323005 xref: SNOMEDCT_US:39905002 @@ -40273,7 +40389,7 @@ is_a: HP:0001646 ! Abnormal aortic valve morphology id: HP:0005177 name: Premature arteriosclerosis def: "Arteriosclerosis occuring at an age that is younger than usual." [HPO:probinson] -synonym: "Premature hardening of arteries" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Premature hardening of arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848486 xref: UMLS:C4280503 is_a: HP:0002634 ! Arteriosclerosis @@ -40292,7 +40408,8 @@ alt_id: HP:0004753 def: "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [HPO:probinson] comment: This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). synonym: "Tricuspid insufficiency" EXACT [] -synonym: "Tricuspid valve regurgitation" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Tricuspid valve regurgitation" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:1161 xref: MSH:D014262 xref: SNOMEDCT_US:111287006 xref: UMLS:C0040961 @@ -40311,6 +40428,7 @@ id: HP:0005182 name: Bicuspid pulmonary valve def: "The presence of a bicuspid pulmonary valve." [HPO:probinson] comment: The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. +xref: Fyler:1601 xref: SNOMEDCT_US:253599005 xref: UMLS:C0344987 is_a: HP:0031566 ! Abnormal pulmonary valve cusp morphology @@ -40359,7 +40477,7 @@ is_a: HP:0001187 ! Hyperextensibility of the finger joints [Term] id: HP:0005191 name: Congenital knee dislocation -synonym: "Dislocated knee since birth" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Dislocated knee since birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:59068006 xref: UMLS:C0265669 is_a: HP:0004976 ! Knee dislocation @@ -40375,7 +40493,7 @@ id: HP:0005194 name: Flattened metatarsal heads def: "Abnormally flat shape of the heads of the metatarsal bones." [HPO:probinson] comment: The metatarsal heads articulate with the proximal phalanges of the toes. -synonym: "Flattened head of long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Flattened head of long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025240 is_a: HP:0001832 ! Abnormality of the metatarsal bones @@ -40396,7 +40514,7 @@ is_a: HP:0001387 ! Joint stiffness id: HP:0005198 name: Stiff interphalangeal joints def: "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity." [HPO:curators] -synonym: "Stiff hinge joints" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Stiff hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025237 is_a: HP:0001387 ! Joint stiffness is_a: HP:0005262 ! Abnormality of the synovia @@ -40457,7 +40575,7 @@ is_a: HP:0012090 ! Abnormality of pancreas morphology id: HP:0005207 name: Gastric hypertrophy def: "Hypertrophy of the stomach." [HPO:probinson] -synonym: "Increased stomach size" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased stomach size" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834341 xref: UMLS:C4280502 is_a: HP:0002577 ! Abnormality of the stomach @@ -40483,7 +40601,7 @@ id: HP:0005210 name: Hypoplastic colon def: "Underdevelopment of the colon." [HPO:probinson] synonym: "Hypoplasia of the colon" EXACT [] -synonym: "Underdeveloped colon" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped colon" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1392839 is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon @@ -40514,13 +40632,13 @@ id: HP:0005214 name: Intestinal obstruction alt_id: HP:0005239 def: "Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal." [HPO:probinson] -synonym: "Bowel obstruction" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Intestinal blockage" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bowel obstruction" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Intestinal blockage" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Intestinal obstruction" EXACT layperson [] xref: MSH:D007415 xref: SNOMEDCT_US:81060008 xref: UMLS:C0021843 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0004796 ! Gastrointestinal obstruction [Term] @@ -40565,7 +40683,7 @@ id: HP:0005220 name: Multiple intestinal neurofibromatosis xref: UMLS:C4025233 is_a: HP:0001067 ! Neurofibromas -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] @@ -40575,7 +40693,7 @@ def: "The presence of multiple diverticula of the intestine." [HPO:probinson] synonym: "Bowel diverticula" RELATED [] xref: UMLS:C1394691 xref: UMLS:C1395674 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005223 @@ -40604,7 +40722,7 @@ def: "Accumulation of cell free, noninflammatony fluid within the wall of the in comment: This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram. xref: UMLS:C1142262 is_a: HP:0000969 ! Edema -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005227 @@ -40688,7 +40806,7 @@ id: HP:0005237 name: Degenerative liver disease def: "The presence of degenerative changes of the liver." [HPO:probinson] xref: UMLS:C4025230 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0005238 @@ -40743,9 +40861,9 @@ id: HP:0005245 name: Intestinal hypoplasia def: "Developmental hypoplasia of the intestine." [HPO:probinson] synonym: "Hypoplastic intestines" EXACT [] -synonym: "Underdeveloped instestine" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped instestine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021640 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005246 @@ -40797,8 +40915,8 @@ is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0005254 name: Unilateral chest hypoplasia -synonym: "Small chest on one side" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped chest on one side" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small chest on one side" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped chest on one side" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1845576 is_a: HP:0005257 ! Thoracic hypoplasia @@ -40830,8 +40948,8 @@ is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0005258 name: Pectoral muscle hypoplasia/aplasia -synonym: "Small/absent pec muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped/absent pec muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small/absent pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped/absent pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025226 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature @@ -40847,7 +40965,7 @@ name: Joint hemorrhage alt_id: HP:0001391 alt_id: HP:0005196 def: "Hemorrhage occurring within a joint." [HPO:gcarletti] -synonym: "Bleeding within a joint" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bleeding within a joint" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hemarthroses" EXACT [] synonym: "Hemarthrosis" EXACT layperson [] synonym: "Joint haemorrhage" EXACT [] @@ -40873,7 +40991,7 @@ id: HP:0005263 name: Gastritis def: "The presence of inflammation of the gastric mucous membrane." [HPO:probinson] subset: hposlim_core -synonym: "Stomach inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Stomach inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10017853 "Gastritis" xref: MSH:D005756 xref: SNOMEDCT_US:4556007 @@ -40912,7 +41030,7 @@ synonym: "Intestinal polyps" RELATED [] xref: MSH:D007417 xref: SNOMEDCT_US:254588001 xref: UMLS:C0021846 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract created_by: peter creation_date: 2008-03-26T04:46:00Z @@ -40938,15 +41056,15 @@ id: HP:0005272 name: Prominent nasolabial fold def: "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)." [pmid:19125428] subset: hposlim_core -synonym: "Deep laugh lines" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deep nasolabial crease" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deep nasolabial fold" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deep nasolabial groove" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deep smile lines" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Deep laugh lines" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deep nasolabial crease" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deep nasolabial fold" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deep nasolabial groove" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deep smile lines" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasolabial crease, prominent" EXACT [] -synonym: "Prominent laugh lines" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Prominent nasolabial groove" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent smile lines" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Prominent laugh lines" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Prominent nasolabial groove" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent smile lines" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866487 is_a: HP:0005289 ! Abnormality of the nasolabial region @@ -40957,8 +41075,8 @@ def: "Lack of the cartilage of the nasal septum." [HPO:probinson] subset: hposlim_core synonym: "Absent nasal septal cartilage" EXACT layperson [] synonym: "Absent nasal septum" EXACT layperson [] -synonym: "Ageneis of nasal septal cartilage" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of nasal septal cartilage" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Ageneis of nasal septal cartilage" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of nasal septal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021638 xref: UMLS:C4280501 is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum @@ -40967,17 +41085,17 @@ is_a: HP:3000034 ! Abnormality of cartilage of nasal septum [Term] id: HP:0005274 name: Prominent nasal tip -synonym: "Bulbous tip of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of nasal tip" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of tip of nose" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of nasal tip" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of tip of nose" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Large nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bulbous tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of nasal tip" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of tip of nose" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of nasal tip" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of tip of nose" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Large nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Large tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent nasal tip" EXACT layperson [] -synonym: "Prominent tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pronounced nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pronounced tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Prominent tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Pronounced nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Pronounced tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856118 xref: UMLS:C4280498 xref: UMLS:C4280499 @@ -40987,24 +41105,24 @@ is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005275 name: Cartilaginous ossification of nose -synonym: "Cartilaginous nasal ossification" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cartilaginous nasal ossification" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1855616 is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0005278 name: Hypoplastic nasal tip -synonym: "Aplasia of nasal tip" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deficient nasal tip" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of tip of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic nasal tip" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic tip of nose" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Aplasia of nasal tip" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deficient nasal tip" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of tip of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic nasal tip" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic tip of nose" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844731 xref: UMLS:C4280496 xref: UMLS:C4280497 @@ -41026,21 +41144,21 @@ alt_id: HP:0005284 def: "Posterior positioning of the nasal root in relation to the overall facial profile for age." [pmid:19152422] comment: The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. subset: hposlim_core -synonym: "Concave bridge of nose" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Concave nasal bridge" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Depressed bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Concave bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Concave nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Depressed bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Depressed nasal bridge" EXACT layperson [] synonym: "Depressed nasal root" EXACT [] synonym: "Depressed nasal root/bridge" RELATED [HPO:skoehler] -synonym: "Flat bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Flat bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat nasal bridge" EXACT layperson [] synonym: "Flat nasal root" EXACT [] synonym: "Flat, nasal bridge" EXACT layperson [] synonym: "Flattened nasal bridge" EXACT layperson [] synonym: "Low nasal bridge" EXACT layperson [] synonym: "Low nasal root" EXACT layperson [HPO:skoehler] -synonym: "Retruded bridge of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Retruded nasal bridge" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Retruded bridge of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Retruded nasal bridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1836542 xref: UMLS:C3550546 xref: UMLS:C4280495 @@ -41049,13 +41167,13 @@ is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005281 name: Hypoplastic nasal bridge -synonym: "Decreased size of bridge of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of nasal bridge" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplastic bridge of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic bridge of nose" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic nasal bridge" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small nasal bridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of bridge of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypoplastic bridge of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic bridge of nose" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic nasal bridge" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1865597 xref: UMLS:C4280494 is_a: HP:0000422 ! Abnormality of the nasal bridge @@ -41063,12 +41181,12 @@ is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005285 name: Absent nasal bridge -synonym: "Absent bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absent bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absent nasal bridge" EXACT layperson [] -synonym: "Agenesis of bridge of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of nasal bridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing bridge of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing nasal bridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of bridge of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of nasal bridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1837888 is_a: HP:0000422 ! Abnormality of the nasal bridge @@ -41078,11 +41196,11 @@ name: Abnormality of the nares def: "Abnormality of the nostril." [HPO:curators] subset: hposlim_core synonym: "Abnormality of the nostrils" EXACT layperson [] -synonym: "Anomaly of the nares" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nares" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nostrils" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nares" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nostrils" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the nares" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nares" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nostrils" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nares" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nostrils" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021637 is_a: HP:0000366 ! Abnormality of the nose created_by: peter @@ -41091,9 +41209,9 @@ creation_date: 2008-03-26T06:04:00Z [Term] id: HP:0005289 name: Abnormality of the nasolabial region -synonym: "Anomaly of the nasolabial region" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasolabial region" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasolabial region" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the nasolabial region" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasolabial region" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasolabial region" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025223 is_a: HP:0000366 ! Abnormality of the nose created_by: peter @@ -41102,11 +41220,11 @@ creation_date: 2008-03-26T06:07:00Z [Term] id: HP:0005290 name: Internal carotid artery hypoplasia -synonym: "Aplasia of internal carotid artery" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of internal carotid artery" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of internal carotid artery" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic internal carotid artery" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small internal carotid artery" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Aplasia of internal carotid artery" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of internal carotid artery" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of internal carotid artery" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic internal carotid artery" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small internal carotid artery" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855736 xref: UMLS:C4280491 xref: UMLS:C4280492 @@ -41214,7 +41332,7 @@ is_a: HP:0004962 ! Thoracic aorta calcification [Term] id: HP:0005304 name: Hypoplastic pulmonary veins -synonym: "Underdeveloped lung veins" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped lung veins" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1970501 is_a: HP:0030968 ! Abnormal pulmonary vein morphology @@ -41222,7 +41340,7 @@ is_a: HP:0030968 ! Abnormal pulmonary vein morphology id: HP:0005305 name: Cerebral venous thrombosis def: "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [HPO:probinson] -synonym: "Blood clot in cerebral vein" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Blood clot in cerebral vein" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Cerebral thrombosis" EXACT [] synonym: "Cerebral vein thrombosis" EXACT [] xref: SNOMEDCT_US:95455008 @@ -41272,7 +41390,7 @@ is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005311 name: Agenesis of pulmonary vessels -synonym: "Absent lung vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent lung vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1970630 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature @@ -41333,7 +41451,7 @@ is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0005320 name: Lack of facial subcutaneous fat -synonym: "Lack of facial fat below the skin" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lack of facial fat below the skin" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3277426 is_a: HP:0003717 ! Minimal subcutaneous fat @@ -41341,7 +41459,7 @@ is_a: HP:0003717 ! Minimal subcutaneous fat id: HP:0005321 name: Mandibulofacial dysostosis def: "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations." [HPO:probinson] -synonym: "Treacher collins syndrome" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Treacher collins syndrome" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D008342 xref: SNOMEDCT_US:82203000 xref: UMLS:C0242387 @@ -41350,12 +41468,12 @@ is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0005322 name: Prominent nasal septum -synonym: "Low hanging nasal septum" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Low hanging septum of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Low hanging nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Low hanging septum of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent nasal septum" EXACT layperson [] -synonym: "Prominent septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Visible nasal septum" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Visible septum of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Prominent septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Visible nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Visible septum of nose" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025216 xref: UMLS:C4280489 xref: UMLS:C4280490 @@ -41366,14 +41484,14 @@ id: HP:0005323 name: Hemifacial hypertrophy def: "Unilateral overgrowth of facial tissues, including muscles, bones and skin." [HPO:probinson] subset: hposlim_core -synonym: "Enlargement of half of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Facial hemihyperplasia" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Facial hemihypertophy" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Friedreich's disease" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hemifacial enlargement" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of half of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increase in size of half of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of half of face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Enlargement of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Facial hemihyperplasia" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Facial hemihypertophy" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Friedreich's disease" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hemifacial enlargement" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increase in size of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C563014 xref: MSH:D005621 xref: SNOMEDCT_US:10394003 @@ -41403,7 +41521,7 @@ id: HP:0005326 name: Hypoplastic philtrum alt_id: HP:0005331 def: "Underdevelopment of the philtrum." [HPO:probinson] -synonym: "Small philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Small philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1856886 is_a: HP:0000288 ! Abnormality of the philtrum @@ -41431,7 +41549,7 @@ is_a: HP:0007495 ! Prematurely aged appearance id: HP:0005329 name: Fixed facial expression synonym: "Fixed facial expression" EXACT layperson [] -synonym: "Unchanging facial expression" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Unchanging facial expression" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855353 is_a: HP:0004673 ! Decreased facial expression @@ -41446,14 +41564,14 @@ is_a: HP:0000277 ! Abnormality of the mandible id: HP:0005335 name: Sleepy facial expression synonym: "Sleepy facial expression" EXACT layperson [] -synonym: "Somnolent facial expression" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Somnolent facial expression" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025214 is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0005336 name: Forehead hyperpigmentation -synonym: "Darkening of the forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Darkening of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1969673 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0007400 ! Irregular hyperpigmentation @@ -41503,7 +41621,7 @@ name: Hypoplasia of the bladder alt_id: HP:0005342 def: "Underdevelopment of the urinary bladder." [HPO:probinson] synonym: "Hypoplastic bladder" EXACT [] -synonym: "Underdeveloped bladder" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped bladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855335 is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder @@ -41542,7 +41660,7 @@ creation_date: 2008-03-26T06:44:00Z id: HP:0005347 name: Cartilaginous trachea xref: UMLS:C1863363 -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0005348 @@ -41605,7 +41723,7 @@ id: HP:0005359 name: Aplasia of the thymus def: "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination." [HPO:probinson] synonym: "Absent thymic shadow" RELATED [] -synonym: "Absent thymus" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent thymus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Athymia" EXACT [] synonym: "Lack of thymic shadow" RELATED [] xref: MSH:C536288 @@ -41953,7 +42071,7 @@ is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005429 name: Recurrent systemic pyogenic infections -def: "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections." [orcid.org/0000-0001-7941-2961] +def: "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections." [ORCID:0000-0001-7941-2961] xref: UMLS:C4025196 is_a: HP:0002718 ! Recurrent bacterial infections @@ -41985,7 +42103,7 @@ alt_id: HP:0002844 alt_id: HP:0005373 alt_id: HP:0005383 alt_id: HP:0005409 -def: "Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity." [orcid.org/0000-0001-7941-2961] +def: "Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity." [ORCID:0000-0001-7941-2961] synonym: "Impaired T cell function" EXACT layperson [] synonym: "T-cell dysfunction" EXACT layperson [] xref: UMLS:C1860127 @@ -42002,12 +42120,12 @@ is_a: HP:0002719 ! Recurrent infections id: HP:0005439 name: Maxillozygomatic hypoplasia def: "Hypoplasia of the maxillozygomatic complex." [HPO:probinson] -synonym: "Decreased projection of zygomaticomaxillary bone complex" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of zygomaticomaxillary bone complex" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of zygomaticomaxillary bone complex" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of malar bone complex" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of zygomaticomaxillary complex" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of zygomaticomaxillary bone complex" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased projection of zygomaticomaxillary bone complex" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of malar bone complex" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of zygomaticomaxillary complex" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1848908 xref: UMLS:C4280488 is_a: HP:0000327 ! Hypoplasia of the maxilla @@ -42038,8 +42156,8 @@ id: HP:0005446 name: Obtuse angle of mandible def: "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal." [HPO:probinson] comment: See pmid:17213440 Figure 1G for an example of an obtuse mandibular angle. -synonym: "High mandibular plane angle" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Steep mandibular plane angle" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "High mandibular plane angle" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Steep mandibular plane angle" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:709997007 xref: UMLS:C4038738 is_a: HP:0000277 ! Abnormality of the mandible @@ -42076,9 +42194,9 @@ is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses id: HP:0005456 name: Absent ethmoidal sinuses def: "Lack (aplasia) of the ethmoidal sinus." [HPO:probinson] -synonym: "Agenesis of ethmoid sinuses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of ethmoid sinuses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing ethmoid sinuses" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025194 is_a: HP:0002689 ! Absent paranasal sinuses is_a: HP:3000040 ! Abnormality of ethmoid sinus @@ -42087,12 +42205,12 @@ is_a: HP:3000040 ! Abnormality of ethmoid sinus id: HP:0005458 name: Premature closure of fontanelles def: "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point." [DDD:awilkie, HPO:probinson] -synonym: "Early closure of the bregma sutures" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Early closure of the cranial sutures" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Early closure of the fontanelles" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Early closure of the bregma sutures" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Early closure of the cranial sutures" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Early closure of the fontanelles" EXACT [ORCID:0000-0001-5889-4463] synonym: "Obliterated fontanelles" EXACT [] -synonym: "Premature closure of the bregma sutures" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Premature closure of the cranial sutures" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Premature closure of the bregma sutures" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Premature closure of the cranial sutures" BROAD [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:1667003 xref: SNOMEDCT_US:57219006 @@ -42137,22 +42255,22 @@ name: Facial hyperostosis alt_id: HP:0008508 def: "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton." [HPO:probinson] subset: hposlim_core -synonym: "Enlargement of facial bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Enlargement of facial skeleton" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Enlargment of the facial bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Excessive growth of facial bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Excessive growth of facial skeleton" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of facial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of facial skeleton" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of facial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of facial skeleton" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of the facial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increase in size of the facial bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of facial bones" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of facial skeleton" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of facial bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of facial skeleton" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of the facial bones" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Enlargement of facial bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Enlargement of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Enlargment of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Excessive growth of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Excessive growth of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of facial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of facial skeleton" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of facial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of facial skeleton" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of the facial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increase in size of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of facial bones" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of facial skeleton" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1857501 xref: UMLS:C4280485 xref: UMLS:C4280486 @@ -42164,13 +42282,13 @@ id: HP:0005466 name: Hypoplasia of the frontal bone alt_id: HP:0005493 def: "Underdevelopment of the frontal bone." [HPO:probinson] -synonym: "Decreased size of bone of forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic frontal bones" EXACT [] -synonym: "Hypotrophic frontal bone" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic frontal bones" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small bone of forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin bone of forehead" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of bone of forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrophic frontal bone" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic frontal bones" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin bone of forehead" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1845147 xref: UMLS:C4280483 xref: UMLS:C4280484 @@ -42185,10 +42303,10 @@ alt_id: HP:0000249 def: "Reduced convexity of the occiput (posterior part of skull)." [pmid:19125436] comment: Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. subset: hposlim_core -synonym: "Flat back of the head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flat back of the skull" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flat posterior cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Flat posterior head" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Flat back of the head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Flat back of the skull" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Flat posterior cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Flat posterior head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Posterior flattening of the skull" EXACT [] xref: UMLS:C1837402 xref: UMLS:C4280482 @@ -42220,7 +42338,7 @@ def: "Abnormal reduction in ossification of the calvaria (roof of the skull cons synonym: "Poorly ossified calvaria" EXACT [] synonym: "Poorly ossified calvarium" EXACT [] synonym: "Soft calvaria" EXACT [] -synonym: "Soft skullcap" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Soft skullcap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Undermineralized calvarium" EXACT [] xref: UMLS:C1833762 is_a: HP:0002683 ! Abnormality of the calvaria @@ -42243,11 +42361,11 @@ is_a: HP:0002694 ! Sclerosis of skull base [Term] id: HP:0005478 name: Prominent frontal sinuses -synonym: "Hyperplasia of frontal sinus" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of frontal sinus" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of frontal sinus" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased volume of frontal sinus" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large frontal sinus" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of frontal sinus" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of frontal sinus" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased size of frontal sinus" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased volume of frontal sinus" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Large frontal sinus" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1969404 xref: UMLS:C4280265 xref: UMLS:C4280479 @@ -42278,8 +42396,9 @@ creation_date: 2008-03-26T08:12:00Z [Term] id: HP:0005483 -name: Abnormality of the epiglottis +name: Abnormal epiglottis morphology def: "An abnormality of the epiglottis." [HPO:probinson] +synonym: "Abnormality of the epiglottis" EXACT [] xref: UMLS:C4025190 is_a: HP:0025423 ! Abnormal larynx morphology created_by: peter @@ -42292,9 +42411,9 @@ alt_id: HP:0000241 alt_id: HP:0000259 alt_id: HP:0005499 def: "Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development." [HPO:probinson] -synonym: "Acquired microcephaly" EXACT [HPO:orcid.org/0000-0001-5889-4463] +synonym: "Acquired microcephaly" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deceleration of head growth" EXACT [] -synonym: "Development of small head that was not present at birth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Development of small head that was not present at birth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Microcephaly, acquired" EXACT [] synonym: "Microcephaly, postnatal" EXACT [] synonym: "Postnatal deceleration of head circumference" EXACT [] @@ -42306,12 +42425,12 @@ id: HP:0005486 name: Small fontanelle def: "A fontanelle that is small for age." [HPO:probinson, pmid:12825844] subset: hposlim_core -synonym: "Little cranial sutures" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Little fontanelle" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Microfontanelle" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Small bregma sutures" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Small cranial sutures" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small soft spot" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Little cranial sutures" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Little fontanelle" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Microfontanelle" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small bregma sutures" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Small cranial sutures" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Small soft spot" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:276710001 xref: UMLS:C0456133 xref: UMLS:C4072854 @@ -42326,10 +42445,10 @@ alt_id: HP:0005751 def: "Vertical bony ridge positioned in the midline of the forehead." [HPO:probinson, pmid:19125436] comment: The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. subset: hposlim_core -synonym: "Prominent frontal ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent frontal suture" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Prominent metopic suture" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Ridging of frontal suture" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Prominent frontal ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent frontal suture" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Prominent metopic suture" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Ridging of frontal suture" NARROW [ORCID:0000-0001-5889-4463] synonym: "Ridging of metopic suture" EXACT [] xref: UMLS:C1857949 is_a: HP:0005556 ! Abnormality of the metopic suture @@ -42419,7 +42538,7 @@ id: HP:0005510 name: Transient erythroblastopenia def: "A transient reduction in the number of erythroblasts in the circulation." [HPO:probinson] comment: An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. -synonym: "Transient decrease in blood erythrocyte number" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Transient decrease in blood erythrocyte number" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4082199 is_a: HP:0001903 ! Anemia @@ -42578,7 +42697,7 @@ is_a: HP:0001972 ! Macrocytic anemia id: HP:0005534 name: Transient myeloproliferative syndrome def: "A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts." [PMID:22966823] -synonym: "TMD" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "TMD" EXACT HP:0045077 [] synonym: "Transient leukemia of Down syndrome" EXACT [] synonym: "Transient myeloproliferative disorder" EXACT [] xref: MSH:C563551 @@ -42680,7 +42799,7 @@ is_a: HP:0012143 ! Abnormal megakaryocyte morphology id: HP:0005549 name: Congenital neutropenia def: "A form of neutropenia with congenital onset." [HPO:probinson] -synonym: "Low blood neutrophil level since birth" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Low blood neutrophil level since birth" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:C537592 xref: SNOMEDCT_US:89655007 xref: UMLS:C1853118 @@ -42715,13 +42834,13 @@ id: HP:0005557 name: Abnormality of the zygomatic arch def: "An abnormality of the zygomatic arch, also known as the cheek bone." [HPO:probinson] comment: The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone. -synonym: "Abnormality of the malar arch" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the malar arch" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the zygomatic arch" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the malar arch" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the zygomatic arch" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the malar arch" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the zygomatic arch" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the malar arch" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the malar arch" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the malar arch" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the malar arch" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025179 is_a: HP:0010668 ! Abnormality of the zygomatic bone created_by: peter @@ -42731,7 +42850,7 @@ creation_date: 2008-03-27T10:20:00Z id: HP:0005558 name: Chronic leukemia def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483] -synonym: "Chronic blood cancer" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Chronic blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:128933000 xref: SNOMEDCT_US:92812005 xref: UMLS:C1279296 @@ -42776,7 +42895,7 @@ creation_date: 2008-03-27T10:46:00Z id: HP:0005562 name: Multiple renal cysts def: "The presence of many cysts in the kidney." [Eurenomics:ewuehl] -synonym: "Multiple kidney cysts" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Multiple kidney cysts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:253883006 xref: UMLS:C0431718 is_a: HP:0000107 ! Renal cyst @@ -42905,7 +43024,7 @@ id: HP:0005585 name: Spotty hyperpigmentation synonym: "Patchy depigmentation" EXACT [] synonym: "Patchy hyperpigmentation" EXACT [] -synonym: "Spotty increased pigmentation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Spotty increased pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3806179 is_a: HP:0007400 ! Irregular hyperpigmentation @@ -42913,7 +43032,7 @@ is_a: HP:0007400 ! Irregular hyperpigmentation id: HP:0005586 name: Hyperpigmentation in sun-exposed areas synonym: "Hyperpigmentation of exposed areas" EXACT [] -synonym: "Increased pigmentation in sun-exposed areas" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased pigmentation in sun-exposed areas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805877 is_a: HP:0000953 ! Hyperpigmentation of the skin @@ -42936,7 +43055,7 @@ is_a: HP:0000982 ! Palmoplantar keratoderma id: HP:0005590 name: Spotty hypopigmentation synonym: "Patchy hypopigmentation" EXACT layperson [] -synonym: "Spotty decreased pigmentation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Spotty decreased pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3806178 is_a: HP:0001053 ! Hypopigmented skin patches @@ -42993,7 +43112,7 @@ alt_id: HP:0005604 def: "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child." [HPO:probinson, pmid:21139903] comment: Between 4% and 6% of these lesions will develop into a malignant melanoma. synonym: "Giant pigmented hairy nevus" EXACT [] -synonym: "Giant pigmented mole" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Giant pigmented mole" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Giant pigmented nevus" EXACT [] xref: MSH:C536819 xref: SNOMEDCT_US:10291008 @@ -43029,9 +43148,10 @@ is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005607 -name: Abnormality of the tracheobronchial system +name: Abnormal tracheobronchial morphology alt_id: HP:0005940 synonym: "Tracheobronchial anomalies" EXACT [] +xref: Fyler:4232 xref: UMLS:C4021631 is_a: HP:0002087 ! Abnormality of the upper respiratory tract created_by: peter @@ -43068,8 +43188,8 @@ name: Aplasia/hypoplasia of the femur alt_id: HP:0006396 alt_id: HP:0006425 def: "Absence or underdevelopment of the femur." [HPO:probinson] -synonym: "Absent/small thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic to absent femora" EXACT [] synonym: "Hypoplastic/aplastic femora" EXACT [] xref: UMLS:C1851310 @@ -43109,7 +43229,7 @@ is_a: HP:0100712 ! Abnormality of the lumbar spine id: HP:0005620 name: Hypermobility of interphalangeal joints def: "The ability of the interphalangeal joints to move beyond their normal range of motion." [HPO:curators] -synonym: "Increased mobility of hinge joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased mobility of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025172 is_a: HP:0001382 ! Joint hypermobility @@ -43133,7 +43253,7 @@ is_a: HP:0011314 ! Abnormality of long bone morphology id: HP:0005623 name: Absent ossification of calvaria def: "Absent ossification of the calvaria (vault of the skull)." [HPO:probinson] -synonym: "Absent bone maturation of skullcap" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absent bone maturation of skullcap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absent ossification of skull vault" EXACT [] xref: UMLS:C4021629 is_a: HP:0005474 ! Decreased calvarial ossification @@ -43328,7 +43448,7 @@ is_a: HP:0008430 ! Anterior beaking of lumbar vertebrae [Term] id: HP:0005681 name: Juvenile rheumatoid arthritis -synonym: "Juvenile idiopathic arthritis" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, orcid.org/0000-0001-5208-3432] +synonym: "Juvenile idiopathic arthritis" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432] synonym: "Rheumatoid arthritis, juvenile" EXACT [] xref: SNOMEDCT_US:410795001 xref: UMLS:C3714757 @@ -43337,8 +43457,8 @@ is_a: HP:0001370 ! Rheumatoid arthritis [Term] id: HP:0005682 name: Talocalcaneal synostosis -synonym: "Fusion of foot joint" BROAD layperson [https://en.wikipedia.org/wiki/subtalar_joint, orcid.org/0000-0001-5208-3432] -synonym: "Fusion of the subtalar joint" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, orcid.org/0000-0001-5208-3432] +synonym: "Fusion of foot joint" BROAD layperson [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432] +synonym: "Fusion of the subtalar joint" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432] xref: UMLS:C4025155 xref: UMLS:C4255214 is_a: HP:0008368 ! Tarsal synostosis @@ -43356,7 +43476,7 @@ id: HP:0005686 name: Patchy osteosclerosis def: "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators] synonym: "Patchy increase of bone mineral density" EXACT [HPO:curators] -synonym: "Uneven increase in bone density" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855845 is_a: HP:0010658 ! Patchy changes of bone mineral density is_a: HP:0011001 ! Increased bone mineral density @@ -43364,7 +43484,7 @@ is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005687 name: Deformed humeral heads -synonym: "Deformed head of long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Deformed head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025154 is_a: HP:0003871 ! Deformed humerus @@ -43389,7 +43509,7 @@ is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005694 name: Partial fusion of proximal row of carpal bones -synonym: "Partial fusion of innermost row of wrist bones" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Partial fusion of innermost row of wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3152021 is_a: HP:0009702 ! Carpal synostosis @@ -43428,7 +43548,7 @@ is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005709 name: 2-3 toe cutaneous syndactyly -synonym: "Webbed skin of 2nd-3rd toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed skin of 2nd-3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205145001 xref: UMLS:C0432040 is_a: HP:0010621 ! Cutaneous syndactyly of toes @@ -43436,7 +43556,7 @@ is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005715 name: Flattened knee epiphyses -synonym: "Flattened end part of knee bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flattened end part of knee bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025150 is_a: HP:0002815 ! Abnormality of the knee is_a: HP:0003071 ! Flattened epiphysis @@ -43453,7 +43573,7 @@ is_a: HP:0002652 ! Skeletal dysplasia id: HP:0005720 name: Shortening of all metacarpals def: "Abnormal reduction in length of all metacarpal bones." [HPO:probinson] -synonym: "Shortened long bones of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Shortened long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025149 is_a: HP:0010049 ! Short metacarpal @@ -43461,7 +43581,7 @@ is_a: HP:0010049 ! Short metacarpal id: HP:0005722 name: Hyperextensible thumb def: "The ability of the thumb joints to move beyond their normal range of motion." [HPO:curators] -synonym: "Double jointed thumb" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Double jointed thumb" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025148 is_a: HP:0005639 ! Hyperextensible hand joints @@ -43482,7 +43602,7 @@ is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005726 name: Thumbs hypoplastic with bulbous tips -synonym: "Short thumbs with bulbous tips" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short thumbs with bulbous tips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025146 is_a: HP:0009778 ! Short thumb @@ -43510,8 +43630,8 @@ alt_id: HP:0002993 def: "Underdevelopment (reduced size) of the tibia." [HPO:probinson] synonym: "Hypoplasia of the tibia" EXACT [] synonym: "Hypoplastic tibia" EXACT [] -synonym: "Short shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Short skankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short skankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short tibiae" EXACT [] xref: UMLS:C1850259 is_a: HP:0003026 ! Short long bone @@ -43592,7 +43712,7 @@ id: HP:0005756 name: Neonatal epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period." [HPO:probinson] synonym: "Epiphyseal stippling in neonates" EXACT [] -synonym: "Speckled calcifications in bone end parts in neonates" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in bone end parts in neonates" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021623 is_a: HP:0010655 ! Epiphyseal stippling @@ -43609,8 +43729,8 @@ is_a: HP:0000932 ! Abnormality of the posterior cranial fossa id: HP:0005759 name: Small flat posterior fossa def: "An abnormally small and flat configuration of the posterior cranial fossa." [HPO:curators] -synonym: "Small and flat posterior fossa of skull" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Small and flat posterior skull bones" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Small and flat posterior fossa of skull" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small and flat posterior skull bones" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025141 is_a: HP:0040010 ! Small posterior fossa is_a: HP:0040011 ! Flat posterior fossa @@ -43634,15 +43754,15 @@ is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0005766 name: Disproportionate shortening of the tibia -synonym: "Disproportionate shortening of the shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Disproportionate shortening of the shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Disproportionate shortening of the shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Disproportionate shortening of the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3806516 is_a: HP:0005736 ! Short tibia [Term] id: HP:0005767 name: 1-2 toe complete cutaneous syndactyly -synonym: "Webbed 1st-2nd toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 1st-2nd toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025140 is_a: HP:0010621 ! Cutaneous syndactyly of toes @@ -43651,8 +43771,8 @@ id: HP:0005768 name: 2-4 toe cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4." [HPO:probinson] synonym: "Soft tissue syndactyly of toes 2, 3, and 4" EXACT [] -synonym: "Webbed 2nd, 3rd and 4th toes" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Webbed second, third and fourth toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 2nd, 3rd and 4th toes" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Webbed second, third and fourth toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021622 is_a: HP:0010621 ! Cutaneous syndactyly of toes @@ -43660,9 +43780,9 @@ is_a: HP:0010621 ! Cutaneous syndactyly of toes id: HP:0005769 name: Fifth finger distal phalanx clinodactyly def: "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger)." [HPO:probinson] -synonym: "Curvature of outermost bone of little finger" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curvature of outermost bone of pinkie finger" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curvature of outermost bone of pinky finger" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of outermost bone of little finger" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Curvature of outermost bone of pinkie finger" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Curvature of outermost bone of pinky finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025139 xref: UMLS:C4280477 is_a: HP:0004209 ! Clinodactyly of the 5th finger @@ -43673,10 +43793,10 @@ id: HP:0005772 name: Aplasia/Hypoplasia of the tibia def: "Absence or underdevelopment of the tibia." [HPO:curators] synonym: "Absent/hypoplastic tibia" EXACT [] -synonym: "Absent/small shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic tibia" EXACT [] xref: UMLS:C1969181 is_a: HP:0002992 ! Abnormality of tibia morphology @@ -43736,7 +43856,7 @@ name: Generalized osteosclerosis alt_id: HP:0005805 def: "An abnormal increase of bone mineral density with generalized involvement of the skeleton." [HPO:probinson] synonym: "Diffuse, symmetrical osteosclerosis" EXACT [] -synonym: "Increased bone density in skeletal bones" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in skeletal bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Osteosclerosis, diffuse symmetrical" EXACT [] xref: UMLS:C1843331 xref: UMLS:C4280476 @@ -43745,11 +43865,11 @@ is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005790 name: Short mandibular condyles -synonym: "Decreased height of condylar process of mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased length of condylar process of mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Short condylar head of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Short condylar neck of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Short condylar process of mandible" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased length of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Short condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Short condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Short condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025134 xref: UMLS:C4280474 xref: UMLS:C4280475 @@ -43780,7 +43900,7 @@ synonym: "Humeral shortening" EXACT [] synonym: "Hypoplastic humerus" EXACT [] synonym: "Short humeri" EXACT [] synonym: "Short humerus" EXACT layperson [] -synonym: "Short long bone of upper arm" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Short long bone of upper arm" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Short upper arms" EXACT layperson [] xref: UMLS:C1832117 is_a: HP:0003026 ! Short long bone @@ -43790,7 +43910,7 @@ is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus id: HP:0005793 name: Shortening of all distal phalanges of the toes def: "Abnormally short distal phalanx of toe of all toes." [HPO:probinson] -synonym: "Shortening of all outermost bone of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shortening of all outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025132 is_a: HP:0001857 ! Short distal phalanx of toe @@ -43818,7 +43938,7 @@ is_a: HP:0008368 ! Tarsal synostosis id: HP:0005807 name: Absent distal phalanges def: "Aplasia (absence) of the distal phalanges." [HPO:curators] -synonym: "Absent outermost digital bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861339 is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand @@ -43854,7 +43974,7 @@ synonym: "Hypoplasia of the middle phalanges of the hand" EXACT [] synonym: "Hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic middle phalanx" EXACT [] synonym: "Midphalangeal hypoplasia" EXACT [] -synonym: "Short middle bone of finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanges" EXACT [] xref: UMLS:C1846950 is_a: HP:0009381 ! Short finger @@ -43872,7 +43992,7 @@ id: HP:0005824 name: Clinodactyly of the 2nd toe def: "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "Clinodactyly of second toes" EXACT [] -synonym: "Curvature of 2nd toe" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of 2nd toe" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021620 xref: UMLS:C4280473 is_a: HP:0001863 ! Toe clinodactyly @@ -43956,7 +44076,7 @@ is_a: HP:0003336 ! Abnormal enchondral ossification id: HP:0005844 name: Rounded middle phalanx of finger def: "An abnormally round shape of the middle phalanx of the finger." [HPO:probinson] -synonym: "Rounded middle bone of finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Rounded middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025126 is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand @@ -43964,7 +44084,7 @@ is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand id: HP:0005848 name: Bifid thumb distal phalanx def: "Cleft (split into two parts) distal phalanx of thumb." [HPO:probinson] -synonym: "Notched outermost bone of thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched outermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1860162 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb @@ -44055,7 +44175,7 @@ is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005867 name: Fused fourth and fifth metacarpals -synonym: "Fused 4th-5th long bones of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused 4th-5th long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused 4th-5th metacarpals" EXACT [] xref: UMLS:C1859768 is_a: HP:0009707 ! Synostosis involving the 4th metacarpal @@ -44092,7 +44212,7 @@ is_a: HP:0001156 ! Brachydactyly id: HP:0005873 name: Polysyndactyly of hallux def: "Combined syndactyly and polydactyly of the great toe." [HPO:probinson] -synonym: "Polysyndactyly of big toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Polysyndactyly of big toe" EXACT [ORCID:0000-0001-5208-3432] synonym: "Polysyndactyly of great toe" EXACT [] xref: UMLS:C4021618 is_a: HP:0001841 ! Preaxial foot polydactyly @@ -44137,7 +44257,7 @@ id: HP:0005880 name: Metacarpophalangeal synostosis alt_id: HP:0100325 def: "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint." [HPO:probinson] -synonym: "Fused long bone of hand with innermost finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused long bone of hand with innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025117 is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009701 ! Metacarpal synostosis @@ -44174,16 +44294,16 @@ is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand id: HP:0005890 name: Hyperostosis cranialis interna def: "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull." [HPO:probinson] -synonym: "Enlargement of the inner surface of the skull bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Excessive growth of inner surface of the skull bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of the internal surface of the cranial bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperostosis of the internal surface of the cranial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of the internal surface of the cranial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased ossification of the internal surface of the cranial bones" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of the inner surface of the skull bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of the inside of the skull" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thick inner surface of the skull bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thick internal surface of the cranial bones" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Enlargement of the inner surface of the skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Excessive growth of inner surface of the skull bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of the internal surface of the cranial bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperostosis of the internal surface of the cranial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of the internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased ossification of the internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of the inner surface of the skull bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of the inside of the skull" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Thick inner surface of the skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Thick internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463] xref: MSH:C564168 xref: UMLS:C1840404 xref: UMLS:C4280468 @@ -44205,7 +44325,7 @@ is_a: HP:0006383 ! Progressive bowing of long bones [Term] id: HP:0005892 name: Proximal tibial and fibular fusion -synonym: "Fusion of innermost shinbone and calf bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion of innermost shinbone and calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025113 is_a: HP:0005928 ! Synostosis involving the fibula is_a: HP:0005929 ! Synostosis involving the tibia @@ -44214,7 +44334,7 @@ is_a: HP:0005929 ! Synostosis involving the tibia id: HP:0005894 name: Double first metacarpals def: "Duplication of the metacarpal I bones." [HPO:curators] -synonym: "Double 1st long bones of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Double 1st long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025112 is_a: HP:0005917 ! Supernumerary metacarpal bones @@ -44262,7 +44382,7 @@ is_a: HP:0002754 ! Osteomyelitis id: HP:0005905 name: Abnormal cervical curvature def: "The presence of an abnormal curvature of the cervical vertebral column." [HPO:probinson] -synonym: "Abnormal neck curve" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal neck curve" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3151523 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column @@ -44300,7 +44420,7 @@ creation_date: 2008-03-27T02:07:00Z [Term] id: HP:0005913 name: Abnormality of metacarpal epiphyses -synonym: "Abnormality of end part of long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025110 is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0005924 ! Abnormality of the epiphyses of the hand @@ -44313,8 +44433,8 @@ name: Aplasia/Hypoplasia involving the metacarpal bones alt_id: HP:0006007 def: "Aplasia or Hypoplasia affecting the metacarpal bones." [HPO:curators] synonym: "Absent or hypoplastic metacarpals" EXACT [] -synonym: "Absent/small long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic/absent metacarpal bones" EXACT [] @@ -44331,7 +44451,7 @@ id: HP:0005916 name: Abnormal metacarpal morphology alt_id: HP:0010556 def: "Irregularly shaped metacarpal bones of varying degree." [HPO:curators] -synonym: "Abnormal shape of long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal shape of metacarpal bones" EXACT [] xref: UMLS:C4021615 is_a: HP:0001163 ! Abnormality of the metacarpal bones @@ -44343,7 +44463,7 @@ creation_date: 2008-03-27T02:17:00Z id: HP:0005917 name: Supernumerary metacarpal bones def: "The presence of more than the normal number of metacarpal bones." [HPO:curators] -synonym: "Extra long bones of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Extra long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:91846008 xref: UMLS:C0545617 is_a: HP:0001163 ! Abnormality of the metacarpal bones @@ -44358,7 +44478,7 @@ alt_id: HP:0006259 def: "Abnormalities affecting the phalanx of finger." [HPO:probinson] comment: This category is a supercategory for abnormalties affect phalanges of the hand. synonym: "Abnormal form of phalanges of the hand" EXACT [] -synonym: "Abnormality of the finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the phalanges" EXACT [] synonym: "Abnormality of the phalanges of the hand" EXACT [] xref: UMLS:C4021614 @@ -44371,7 +44491,7 @@ id: HP:0005920 name: Abnormality of the epiphyses of the phalanges of the hand alt_id: HP:0009151 def: "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators] -synonym: "Abnormality of the end part of the hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphyses of the fingers" EXACT [] xref: UMLS:C4021613 is_a: HP:0005918 ! Abnormality of phalanx of finger @@ -44384,8 +44504,6 @@ id: HP:0005921 name: obsolete Abnormal ossification of hand bones is_obsolete: true replaced_by: HP:0010660 -created_by: peter -creation_date: 2008-03-27T02:23:00Z [Term] id: HP:0005922 @@ -44393,7 +44511,7 @@ name: Abnormal hand morphology alt_id: HP:0003098 def: "Any structural anomaly of the hand." [HPO:probinson] comment: This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. -synonym: "Abnormal shape of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025109 is_a: HP:0001155 ! Abnormality of the hand created_by: peter @@ -44402,7 +44520,7 @@ creation_date: 2008-03-27T02:25:00Z [Term] id: HP:0005923 name: Abnormalities of the metaphyses of the hand -synonym: "Abnormality of the wide portion of the hand bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the wide portion of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025108 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009809 ! Abnormality of upper limb metaphysis @@ -44413,7 +44531,7 @@ creation_date: 2008-03-27T02:27:00Z id: HP:0005924 name: Abnormality of the epiphyses of the hand def: "Any abnormality of the epiphyses of the phalanges or metacarpal bones." [HPO:curators] -synonym: "Abnormality of the end part of the hand bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025107 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology @@ -44423,7 +44541,7 @@ creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005925 name: Abnormalities of the diaphyses of the hand -synonym: "Abnormalities of shaft of long bone of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormalities of shaft of long bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025106 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009808 ! Anomaly of the upper limb diaphyses @@ -44445,8 +44563,8 @@ creation_date: 2008-03-27T02:29:00Z id: HP:0005927 name: Aplasia/hypoplasia involving bones of the hand def: "Absence (due to failure to form) or underdevelopment of the bones of the hand." [HPO:probinson] -synonym: "Absent/small hand bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped hand bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplasia/absence of hand bones" EXACT [] xref: UMLS:C4021612 is_a: HP:0001155 ! Abnormality of the hand @@ -44457,7 +44575,7 @@ creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005928 name: Synostosis involving the fibula -synonym: "Bone fusion involving the calf bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bone fusion involving the calf bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025104 is_a: HP:0002991 ! Abnormality of fibula morphology is_a: HP:0009138 ! Synostosis involving bones of the lower limbs @@ -44467,7 +44585,7 @@ creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005929 name: Synostosis involving the tibia -synonym: "Bone fusion involving the shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bone fusion involving the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025103 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0009138 ! Synostosis involving bones of the lower limbs @@ -44479,7 +44597,7 @@ id: HP:0005930 name: Abnormality of epiphysis morphology alt_id: HP:0000936 def: "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk." [HPO:probinson] -synonym: "Abnormal shape of end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphyses" EXACT [] synonym: "Anomaly of the epiphyses" EXACT [] synonym: "Epiphyseal abnormality" EXACT [] @@ -44503,7 +44621,7 @@ creation_date: 2008-03-27T03:21:00Z id: HP:0005934 name: Imperfect vocal cord adduction xref: UMLS:C4025101 -is_a: HP:0008777 ! Abnormality of the vocal cords +is_a: HP:0031801 ! Vocal cord dysfunction [Term] id: HP:0005938 @@ -44535,7 +44653,7 @@ is_a: HP:0006530 ! Interstitial pulmonary abnormality [Term] id: HP:0005943 name: Respiratory arrest -synonym: "Breathing cessation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Breathing cessation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:87317003 xref: UMLS:C0162297 is_a: HP:0002093 ! Respiratory insufficiency @@ -44547,6 +44665,7 @@ alt_id: HP:0006550 def: "Bilateral lack of development of the lungs." [HPO:probinson] synonym: "Absent lungs" EXACT layperson [] synonym: "Bilateral pulmonary agenesis" EXACT [] +xref: Fyler:4206 xref: UMLS:C4021610 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs @@ -44569,7 +44688,7 @@ id: HP:0005947 name: Decreased sensitivity to hypoxemia def: "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration." [HPO:probinson] comment: Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood). -synonym: "Decreased sensitivity to hypoxaemia" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Decreased sensitivity to hypoxaemia" EXACT [ORCID:0000-0001-6908-9849] synonym: "Decreased sensitivity to hypoxemia" EXACT layperson [] xref: UMLS:C3806286 is_a: HP:0005957 ! Breathing dysregulation @@ -44608,7 +44727,7 @@ is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0005952 name: Decreased pulmonary function -synonym: "Decreased lung function" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Decreased lung function" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D012131 xref: SNOMEDCT_US:80954004 xref: UMLS:C0235063 @@ -44634,7 +44753,7 @@ is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0005957 name: Breathing dysregulation -synonym: "Abnormal breathing" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Abnormal breathing" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Breathing difficulty" EXACT layperson [] synonym: "Difficult to breathe" EXACT layperson [] xref: UMLS:C3808046 @@ -44653,7 +44772,7 @@ id: HP:0005961 name: Hypoargininemia def: "A decreased concentration of arginine in the blood." [HPO:gcarletti] synonym: "Arginine deficiency" RELATED [] -synonym: "Low blood arginine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood arginine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859735 xref: UMLS:C4025095 is_a: HP:0010909 ! Abnormality of arginine metabolism @@ -44663,7 +44782,7 @@ id: HP:0005964 name: Intermittent hypothermia alt_id: HP:0005970 def: "Episodes of reduced body termperature." [HPO:probinson] -synonym: "Intermittent abnormally low body temperature" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Intermittent abnormally low body temperature" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Intermittent hypothermia" EXACT layperson [] xref: UMLS:C1837639 is_a: HP:0002045 ! Hypothermia @@ -44777,7 +44896,7 @@ is_a: HP:0006254 ! Elevated alpha-fetoprotein id: HP:0005986 name: Limitation of neck motion synonym: "Limitation of neck motion" EXACT layperson [] -synonym: "Limited neck mobility" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Limited neck mobility" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Restricted neck movement" EXACT [] xref: MSH:D009127 xref: SNOMEDCT_US:161882006 @@ -44813,8 +44932,8 @@ alt_id: HP:0005993 alt_id: HP:0005996 def: "Excess skin around the neck, often lying in horizontal folds." [pmid:19125436] comment: With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used. -synonym: "Excess neck skin" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Excess skin over the neck" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Excess neck skin" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Excess skin over the neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Redundant neck skin" EXACT layperson [] synonym: "Redundant nuchal skin" EXACT [] synonym: "Redundant skin folds of neck" EXACT layperson [] @@ -44836,8 +44955,8 @@ is_a: HP:0008188 ! Thyroid dysgenesis [Term] id: HP:0005991 name: Limited neck flexion -synonym: "Limited cervical flexion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Limited neck flexibility" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Limited cervical flexion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Limited neck flexibility" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1864449 is_a: HP:0005986 ! Limitation of neck motion @@ -44855,7 +44974,7 @@ id: HP:0005995 name: Decreased adipose tissue around neck def: "Reduced amount of adipose tissue in the region of the neck." [HPO:probinson] synonym: "Loss of adipose tissue around the neck" EXACT [] -synonym: "Loss of fat around neck" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Loss of fat around neck" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1837763 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue @@ -44863,7 +44982,7 @@ is_a: HP:0003758 ! Reduced subcutaneous adipose tissue id: HP:0005997 name: Restricted neck movement due to contractures synonym: "Neck flexion contracture" EXACT [] -synonym: "Restricted neck mobility due to contractures" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Restricted neck mobility due to contractures" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Restricted neck movement due to contractures" EXACT layperson [] xref: UMLS:C1867006 is_a: HP:0001371 ! Flexion contracture @@ -44882,6 +45001,7 @@ is_a: HP:0000069 ! Abnormality of the ureter id: HP:0006000 name: Ureteral obstruction def: "Obstruction of the flow of urine through the ureter." [HPO:probinson] +xref: Fyler:4492 xref: MSH:D014517 xref: SNOMEDCT_US:20018005 xref: UMLS:C0041956 @@ -44890,14 +45010,14 @@ is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0006006 name: Hypotrophy of the small hand muscles -synonym: "Degeneration of small hand muscles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Degeneration of small hand muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1843228 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0006008 name: Unilateral brachydactyly -synonym: "Short digits on one side" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short digits on one side" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1868164 xref: UMLS:C4280467 is_a: HP:0001156 ! Brachydactyly @@ -44909,7 +45029,7 @@ alt_id: HP:0006030 alt_id: HP:0006249 def: "Increased side-to-side width of one or more phalanges of the fingers or toes." [HPO:probinson] synonym: "Broad phalanges" EXACT [] -synonym: "Wide digital bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wide digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide phalanges" EXACT [] synonym: "Widened phalanges" EXACT [] xref: UMLS:C1855185 @@ -44921,21 +45041,21 @@ id: HP:0006011 name: Cuboidal metacarpal def: "Severely shortened metacarpal with a cuboidal appearance." [HPO:probinson] comment: The metacarpals are normally tubular in appearance. -synonym: "Short, cube shaped long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short, cube shaped long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025093 is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0006012 name: Widened metacarpal shaft -synonym: "Broad shaft of long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad shaft of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850159 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006014 name: Abnormally shaped carpal bones -synonym: "Abnormally shaped wrist bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally shaped wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1860111 is_a: HP:0001191 ! Abnormality of the carpal bones @@ -44943,7 +45063,7 @@ is_a: HP:0001191 ! Abnormality of the carpal bones id: HP:0006016 name: Delayed phalangeal epiphyseal ossification def: "Delay in the process of formation and maturation of the epiphysis of one or more phalanx." [HPO:probinson] -synonym: "Delayed bone maturation of end part of digital bone" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed bone maturation of end part of digital bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed phalangeal epiphyseal bone maturation" EXACT [] xref: UMLS:C4021609 is_a: HP:0002663 ! Delayed epiphyseal ossification @@ -44951,14 +45071,14 @@ is_a: HP:0002663 ! Delayed epiphyseal ossification [Term] id: HP:0006019 name: Reduced proximal interphalangeal joint space -synonym: "Decreased space in hinge joint" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Decreased space in hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861396 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006026 name: Rounded epiphyses -synonym: "Rounded end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Rounded end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850632 is_a: HP:0005924 ! Abnormality of the epiphyses of the hand @@ -44967,7 +45087,7 @@ id: HP:0006028 name: Metaphyseal cupping of metacarpals alt_id: HP:0006131 def: "Metaphyseal cupping affecting the metacarpal bones." [HPO:curators] -synonym: "Cupping of wide portion of long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cupping of wide portion of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Metacarpal/metaphyseal cupping" EXACT [] xref: UMLS:C1855171 is_a: HP:0003021 ! Metaphyseal cupping @@ -44975,14 +45095,14 @@ is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006035 name: Cone-shaped epiphyses of phalanges 2 to 5 -synonym: "Cone-shaped end part of digital bones 2 to 5" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of digital bones 2 to 5" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857005 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand [Term] id: HP:0006040 name: Long second metacarpal -synonym: "Long 2nd long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Long 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861531 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal @@ -44990,14 +45110,14 @@ is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal id: HP:0006042 name: Y-shaped metacarpals def: "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly." [HPO:curators] -synonym: "Y-shaped long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Y-shaped long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861373 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006045 name: Short pointed phalanges -synonym: "Short pointed digital bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short pointed digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849740 is_a: HP:0009803 ! Short phalanx of finger @@ -45005,7 +45125,7 @@ is_a: HP:0009803 ! Short phalanx of finger id: HP:0006048 name: Distal widening of metacarpals def: "Abnormal increase in width of the distal region of the metacarpal bones." [HPO:curators] -synonym: "Wide outermost end of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide outermost end of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865254 is_a: HP:0005916 ! Abnormal metacarpal morphology @@ -45026,7 +45146,7 @@ is_a: HP:0009487 ! Ulnar deviation of the hand id: HP:0006059 name: Cone-shaped metacarpal epiphyses def: "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators] -synonym: "Cone-shaped end part of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Metacarpal cone-shaped epiphyses" RELATED [] xref: UMLS:C1855239 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses @@ -45035,14 +45155,14 @@ is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0006060 name: Tombstone-shaped proximal phalanges -synonym: "Tombstone-shaped innermost digital bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Tombstone-shaped innermost digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862420 is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006064 name: Limited interphalangeal movement -synonym: "Limited movement of hinge joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Limited movement of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1840089 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand @@ -45057,7 +45177,7 @@ is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006069 name: Severe carpal ossification delay -synonym: "Severe delay in maturation of wrist bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Severe delay in maturation of wrist bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866703 xref: UMLS:C4280466 is_a: HP:0001216 ! Delayed ossification of carpal bones @@ -45088,14 +45208,14 @@ is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006088 name: 1-5 finger complete cutaneous syndactyly -synonym: "Webbed 1-5 fingers" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Webbed 1-5 fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861357 is_a: HP:0010554 ! Cutaneous finger syndactyly [Term] id: HP:0006089 name: Palmar hyperhidrosis -synonym: "Excessive sweating of hands" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Excessive sweating of hands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856953 is_a: HP:0000975 ! Hyperhidrosis is_a: HP:0040211 ! Abnormality of the skin of the palm @@ -45104,14 +45224,14 @@ is_a: HP:0040211 ! Abnormality of the skin of the palm id: HP:0006092 name: Malaligned carpal bone def: "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)." [HPO:sdoelken] -synonym: "Incorrect alignment of wrist bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Incorrect alignment of wrist bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856742 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006094 name: Finger joint hypermobility -synonym: "Increased mobility in finger joint" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased mobility in finger joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:298193009 xref: UMLS:C0574974 is_a: HP:0001167 ! Abnormality of finger @@ -45121,7 +45241,7 @@ is_a: HP:0006256 ! Abnormality of hand joint mobility [Term] id: HP:0006095 name: Wide tufts of distal phalanges -synonym: "Wide tips of outermost digital bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide tips of outermost digital bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1835101 is_a: HP:0006200 ! Widened distal phalanges @@ -45131,7 +45251,7 @@ name: 3-4 finger syndactyly alt_id: HP:0006133 def: "Syndactyly with fusion of fingers three and four." [HPO:sdoelken] synonym: "Partial or complete syndactyly 3rd-4th fingers" EXACT [] -synonym: "Webbed 3rd-4th fingers" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Webbed 3rd-4th fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856889 is_a: HP:0006101 ! Finger syndactyly @@ -45166,7 +45286,7 @@ name: Fingerpad telangiectases alt_id: HP:0006246 def: "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers." [HPO:curators] synonym: "Finger pad telangiectases" EXACT [] -synonym: "Small dilated blood vessels in fingerpads" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Small dilated blood vessels in fingerpads" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861248 is_a: HP:0100585 ! Telangiectasia of the skin @@ -45174,7 +45294,7 @@ is_a: HP:0100585 ! Telangiectasia of the skin id: HP:0006108 name: Tapered metacarpals def: "Metacarpal that becomes thinner toward the distal end." [HPO:probinson] -synonym: "Tapered long bones of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Tapered long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025091 is_a: HP:0005916 ! Abnormal metacarpal morphology @@ -45194,7 +45314,7 @@ id: HP:0006110 name: Shortening of all middle phalanges of the fingers def: "Short (hypoplastic middle phalanx of finger, affecting all fingers." [HPO:probinson] synonym: "Disproportionately short middle phalanges" EXACT [] -synonym: "Shortened middle finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shortened middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856912 is_a: HP:0005819 ! Short middle phalanx of finger @@ -45208,7 +45328,7 @@ is_a: HP:0009768 ! Broad phalanges of the hand id: HP:0006114 name: Multiple palmar creases def: "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)." [HPO:probinson] -synonym: "Multiple palm lines" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Multiple palm lines" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861872 is_a: HP:0010490 ! Abnormality of the palmar creases @@ -45218,7 +45338,7 @@ name: Shortening of all distal phalanges of the fingers alt_id: HP:0005658 def: "Hypoplasia of all of the distal phalanx of finger." [HPO:probinson] synonym: "Brachytelephalangy" RELATED [] -synonym: "Shortening of all outermost bones of the fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shortening of all outermost bones of the fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021608 is_a: HP:0009882 ! Short distal phalanx of finger @@ -45227,7 +45347,7 @@ id: HP:0006119 name: Proximal tapering of metacarpals def: "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance." [HPO:sdoelken] subset: hposlim_core -synonym: "Pointed innermost long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Pointed innermost long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Pointed proximal metacarpals" EXACT [HPO:sdoelken] xref: UMLS:C1854749 is_a: HP:0005916 ! Abnormal metacarpal morphology @@ -45243,7 +45363,7 @@ is_a: HP:0200042 ! Skin ulcer id: HP:0006127 name: Long proximal phalanx of finger def: "Increased length of the proximal phalanx of finger." [HPO:probinson] -synonym: "Long innermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Long innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025090 is_a: HP:0006155 ! Long phalanx of finger is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -45253,7 +45373,7 @@ id: HP:0006129 name: Drumstick terminal phalanges def: "Rounding and broadening of the tufts of the distal phalanges." [HPO:probinson] comment: This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg). -synonym: "Drumstick shaped digital bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Drumstick shaped digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844822 is_a: HP:0009832 ! Abnormality of the distal phalanx of finger @@ -45261,7 +45381,7 @@ is_a: HP:0009832 ! Abnormality of the distal phalanx of finger id: HP:0006134 name: Enlarged metacarpal epiphyses def: "Abnormally large size of the metaphyseal epiphyses." [HPO:curators] -synonym: "Enlarged end part of long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865035 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010580 ! Enlarged epiphyses @@ -45270,7 +45390,7 @@ is_a: HP:0010580 ! Enlarged epiphyses id: HP:0006135 name: Decreased finger mobility synonym: "Decreased finger mobility" EXACT layperson [] -synonym: "Decreased finger movement" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Decreased finger movement" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862133 is_a: HP:0001155 ! Abnormality of the hand @@ -45284,7 +45404,7 @@ is_a: HP:0001162 ! Postaxial hand polydactyly id: HP:0006140 name: Premature fusion of phalangeal epiphyses def: "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth." [HPO:probinson] -synonym: "Premature fusion of end part of digital bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Premature fusion of end part of digital bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855620 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010656 ! Abnormal epiphyseal ossification @@ -45300,7 +45420,7 @@ id: HP:0006144 name: Shortening of all proximal phalanges of the fingers alt_id: HP:0006021 def: "Congenital hypoplasia of proximal phalanx of finger of all fingers." [HPO:probinson] -synonym: "Shortening of all innermost bones of the fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shortening of all innermost bones of the fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025089 is_a: HP:0010241 ! Short proximal phalanx of finger @@ -45308,7 +45428,7 @@ is_a: HP:0010241 ! Short proximal phalanx of finger id: HP:0006145 name: Central Y-shaped metacarpal def: "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [HPO:curators] -synonym: "Y-shaped central long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Y-shaped central long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848597 is_a: HP:0006042 ! Y-shaped metacarpals @@ -45316,7 +45436,7 @@ is_a: HP:0006042 ! Y-shaped metacarpals id: HP:0006146 name: Broad metacarpal epiphyses def: "Increased side-to-side width of the metacarpal epiphyses." [HPO:probinson] -synonym: "Broad end part of long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025088 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses @@ -45344,7 +45464,7 @@ id: HP:0006152 name: Proximal symphalangism of hands alt_id: HP:0006005 def: "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases." [HPO:sdoelken] -synonym: "Fused innermost hinge joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Proximal interphalangeal joint synostoses" EXACT [] xref: UMLS:C4021607 is_a: HP:0009700 ! Finger symphalangism @@ -45354,7 +45474,7 @@ is_a: HP:0100264 ! Proximal symphalangism [Term] id: HP:0006153 name: Disharmonious carpal bone -synonym: "Disharmonious wrist bone" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Disharmonious wrist bone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C2675549 is_a: HP:0006014 ! Abnormally shaped carpal bones @@ -45362,7 +45482,7 @@ is_a: HP:0006014 ! Abnormally shaped carpal bones id: HP:0006155 name: Long phalanx of finger def: "Increased length of multiple or a single phalanx of finger." [HPO:probinson] -synonym: "Long finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Long finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025087 is_a: HP:0005918 ! Abnormality of phalanx of finger @@ -45370,7 +45490,7 @@ is_a: HP:0005918 ! Abnormality of phalanx of finger id: HP:0006156 name: Ulnar deviation of thumb def: "Bending or curvature of a thumb towards the ulnar side (towards the ring finger)." [HPO:probinson, pmid:10955488] -synonym: "Curved thumb deviated towards palm" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Curved thumb deviated towards palm" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Ulnar deviation of the 1st finger" EXACT [] xref: SNOMEDCT_US:299137000 xref: UMLS:C0575904 @@ -45380,7 +45500,7 @@ is_a: HP:0009465 ! Ulnar deviation of finger [Term] id: HP:0006157 name: Prominent palmar flexion creases -synonym: "Prominent life line" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Prominent life line" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865131 xref: UMLS:C4280464 is_a: HP:0010490 ! Abnormality of the palmar creases @@ -45407,21 +45527,21 @@ is_a: HP:0100260 ! Mesoaxial polydactyly id: HP:0006160 name: Irregular metacarpals def: "Irregular morphology of one or more metacarpal bones." [HPO:probinson] -synonym: "Irregular long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025086 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006161 name: Short metacarpals with rounded proximal ends -synonym: "Short long bone of hand with rounded innermost ends" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short long bone of hand with rounded innermost ends" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856471 is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0006162 name: Soft tissue swelling of interphalangeal joints -synonym: "Soft tissue swelling of hinge joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Soft tissue swelling of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1854913 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand @@ -45441,14 +45561,14 @@ is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0006166 name: Tubular metacarpal bones -synonym: "Cylindrical shaped long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cylindrical shaped long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859369 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006167 name: Prominent proximal interphalangeal joints -synonym: "Prominent innermost hinge joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Prominent innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025085 is_a: HP:0006237 ! Prominent interphalangeal joints @@ -45463,14 +45583,14 @@ is_a: HP:0006135 ! Decreased finger mobility id: HP:0006170 name: Chess-pawn distal phalanges def: "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns." [HPO:probinson] -synonym: "Chess-pawn shaped outermost bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Chess-pawn shaped outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862097 is_a: HP:0009832 ! Abnormality of the distal phalanx of finger [Term] id: HP:0006172 name: Flattened, squared-off epiphyses of tubular bones -synonym: "Flattened, squared-off end part of tubular bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flattened, squared-off end part of tubular bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834961 is_a: HP:0003053 ! Epiphyseal deformities of tubular bones is_a: HP:0003071 ! Flattened epiphysis @@ -45486,7 +45606,7 @@ is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0006175 name: Proximal phalangeal periosteal thickening -synonym: "Thickening of connective tissue of innermost finger bone" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Thickening of connective tissue of innermost finger bone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834348 xref: UMLS:C4280463 is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -45501,14 +45621,14 @@ is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006179 name: Pseudoepiphyses of second metacarpal -synonym: "Extra bone on end of second long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Extra bone on end of second long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862693 is_a: HP:0009193 ! Pseudoepiphyses of the metacarpals [Term] id: HP:0006180 name: Crowded carpal bones -synonym: "Crowded wrist bones" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Crowded wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863317 is_a: HP:0001191 ! Abnormality of the carpal bones @@ -45520,7 +45640,7 @@ def: "Poorly defined or shallow palmar creases." [pmid:19125433] subset: hposlim_core synonym: "Hypoplastic palmar creases" EXACT [] synonym: "Poorly formed palmar creases" EXACT [] -synonym: "Shallow palm line" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shallow palm line" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Shallow palmar creases" EXACT [HPO:skoehler] xref: UMLS:C1857483 is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases @@ -45528,7 +45648,7 @@ is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases [Term] id: HP:0006185 name: Enlarged proximal interphalangeal joints -synonym: "Enlarged innermost hinge joint" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged innermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861350 is_a: HP:0006247 ! Enlarged interphalangeal joints @@ -45555,7 +45675,7 @@ id: HP:0006191 name: Deep palmar crease def: "Excessively deep creases of the palm." [pmid:19125433] subset: hposlim_core -synonym: "Deep palm line" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Deep palm line" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Deep palmar creases" EXACT [] xref: UMLS:C1857539 is_a: HP:0010490 ! Abnormality of the palmar creases @@ -45564,7 +45684,7 @@ is_a: HP:0010490 ! Abnormality of the palmar creases id: HP:0006192 name: Tapered phalanx of finger def: "Phalanges of the fingers becoming thinner toward the distal end." [HPO:probinson] -synonym: "Tapered finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Tapered finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025084 is_a: HP:0005918 ! Abnormality of phalanx of finger @@ -45572,21 +45692,21 @@ is_a: HP:0005918 ! Abnormality of phalanx of finger id: HP:0006193 name: Thimble-shaped middle phalanges of hand def: "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat." [HPO:probinson] -synonym: "Thimble-shaped middle bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Thimble-shaped middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025083 is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand [Term] id: HP:0006200 name: Widened distal phalanges -synonym: "Widened outermost bone of limb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Widened outermost bone of limb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862421 is_a: HP:0006009 ! Broad phalanx [Term] id: HP:0006201 name: Hypermobility of distal interphalangeal joints -synonym: "Increased mobility of outermost hinge joint" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased mobility of outermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1851811 is_a: HP:0005620 ! Hypermobility of interphalangeal joints @@ -45600,7 +45720,7 @@ is_a: HP:0009699 ! Osteolytic defects of the hand bones [Term] id: HP:0006203 name: Decreased movement range in interphalangeal joints -synonym: "Decreased range of movement range in hinge joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased range of movement range in hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836772 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0006135 ! Decreased finger mobility @@ -45609,7 +45729,7 @@ is_a: HP:0006135 ! Decreased finger mobility id: HP:0006205 name: Irregular phalanges def: "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance." [HPO:probinson] -synonym: "Irregular finger bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Irregular finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025081 is_a: HP:0005918 ! Abnormality of phalanx of finger @@ -45637,7 +45757,7 @@ is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006209 name: Partial-complete absence of 5th phalanges -synonym: "Partial-complete absence of 5th digital bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial-complete absence of 5th digital bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867928 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger @@ -45651,7 +45771,7 @@ is_a: HP:0001180 ! Hand oligodactyly id: HP:0006213 name: Thin proximal phalanges with broad epiphyses of the hand comment: removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal)) -synonym: "Thin innermost bone with broad end part of the hand bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Thin innermost bone with broad end part of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Thin proximal phalanges with broad epiphyses" BROAD [] xref: UMLS:C1862156 xref: UMLS:C4025079 @@ -45670,7 +45790,7 @@ is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0006217 name: Limited mobility of proximal interphalangeal joint -synonym: "Limited mobility of innermost hinge joint" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Limited mobility of innermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857288 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand @@ -45730,14 +45850,14 @@ creation_date: 2008-04-17T02:39:00Z id: HP:0006236 name: Slender metacarpals def: "Decreased width of the metacarpal bones (that is, reduced diameter)." [HPO:probinson] -synonym: "Slender long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slender long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025077 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006237 name: Prominent interphalangeal joints -synonym: "Prominent hinge joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Prominent hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859115 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand @@ -45746,7 +45866,7 @@ id: HP:0006239 name: Shortening of all middle phalanges of the toes def: "Abnormal shortening of all middle phalanges of toes." [HPO:probinson] synonym: "Brachymesophalangy of feet" EXACT [] -synonym: "Shortening of all the middle bones of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shortening of all the middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021605 is_a: HP:0003795 ! Short middle phalanx of toe @@ -45760,7 +45880,7 @@ is_a: HP:0005918 ! Abnormality of phalanx of finger [Term] id: HP:0006247 name: Enlarged interphalangeal joints -synonym: "Enlarged hinge joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859701 is_a: HP:0003037 ! Enlarged joints is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand @@ -45791,7 +45911,7 @@ is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006253 name: Swelling of proximal interphalangeal joints -synonym: "Swelling of innermost hinge joints" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Swelling of innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1860841 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand @@ -45823,7 +45943,7 @@ creation_date: 2008-03-28T10:14:00Z [Term] id: HP:0006257 name: Abnormality of carpal bone ossification -synonym: "Abnormal ankle bone maturation" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal ankle bone maturation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025075 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0010660 ! Abnormal hand bone ossification @@ -45844,12 +45964,12 @@ creation_date: 2008-03-28T02:55:00Z id: HP:0006262 name: Aplasia/Hypoplasia of the 5th finger def: "A small/hypoplastic or absent/aplastic 5th finger." [HPO:sdoelken] -synonym: "Absent/small little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025074 is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers @@ -45860,7 +45980,7 @@ creation_date: 2008-03-28T02:59:00Z id: HP:0006263 name: Abnormality of the epiphyses of the 2nd finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger." [HPO:curators] -synonym: "Abnormality of the end part of the index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025073 is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand @@ -45871,8 +45991,8 @@ creation_date: 2008-03-28T03:04:00Z id: HP:0006264 name: Aplasia/Hypoplasia of the 2nd finger def: "A small/hypoplastic or absent/aplastic 2nd finger." [HPO:curators] -synonym: "Absent/small index finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped index finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small index finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025072 is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers @@ -45883,8 +46003,8 @@ creation_date: 2008-03-28T03:06:00Z id: HP:0006265 name: Aplasia/Hypoplasia of fingers def: "Small/hypoplastic or absent/aplastic fingers." [HPO:curators] -synonym: "Absent/small fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small fingers" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025071 is_a: HP:0001167 ! Abnormality of finger is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand @@ -45921,7 +46041,7 @@ is_a: HP:0001744 ! Splenomegaly id: HP:0006270 name: Hypoplastic spleen def: "Underdevelopment of the spleen." [HPO:curators] -synonym: "Underdeveloped spleen" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped spleen" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1970617 is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen @@ -45958,7 +46078,7 @@ is_a: HP:0012094 ! Abnormal pancreas size id: HP:0006278 name: Ectopic pancreatic tissue def: "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut." [HPO:curators] -synonym: "Abnormal pancreas location" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal pancreas location" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:264304000 xref: UMLS:C0994638 is_a: HP:0012090 ! Abnormality of pancreas morphology @@ -45973,7 +46093,7 @@ is_a: HP:0006476 ! Abnormality of the pancreatic islet cells id: HP:0006280 name: Chronic pancreatitis def: "A chronic form of pancreatitis." [HPO:probinson] -synonym: "Chronic pancreas inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Chronic pancreas inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D050500 xref: SNOMEDCT_US:233870001 xref: SNOMEDCT_US:234689009 @@ -45985,8 +46105,8 @@ is_a: HP:0001733 ! Pancreatitis id: HP:0006282 name: Generalized hypoplasia of dental enamel def: "A generalized form of developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier] -synonym: "Generalized dysplasia of tooth enamel" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Generalized hypoplasia of tooth enamel" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Generalized dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Generalized hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025070 xref: UMLS:C4280462 is_a: HP:0006297 ! Hypoplasia of dental enamel @@ -45995,8 +46115,8 @@ is_a: HP:0006297 ! Hypoplasia of dental enamel id: HP:0006283 name: Multiple unerupted teeth def: "The presence of multiple embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier] -synonym: "Failure of eruption of multiple teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Multiple non-erupting teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of eruption of multiple teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Multiple non-erupting teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Multiple unerupted teeth" EXACT layperson [] xref: UMLS:C4025069 is_a: HP:0000706 ! Unerupted tooth @@ -46007,11 +46127,11 @@ name: Hypomineralization of enamel alt_id: HP:0006359 def: "A decreased amount of enamel mineralization." [HPO:probinson] synonym: "Decreased enamel mineralisation" EXACT [] -synonym: "Fluorosis of tooth enamel" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased porosity of tooth enamel" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Mottled tooth enamel" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Poorly mineralized tooth enamel" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "White spot lesions of tooth enamel" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Fluorosis of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased porosity of tooth enamel" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Mottled tooth enamel" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Poorly mineralized tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "White spot lesions of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109487003 xref: UMLS:C3665628 xref: UMLS:C4280253 @@ -46023,8 +46143,8 @@ is_a: HP:0000682 ! Abnormality of dental enamel id: HP:0006286 name: Yellow-brown discoloration of the teeth synonym: "Yellow-brown discoloration of the teeth" EXACT layperson [] -synonym: "Yellow-brown discolored teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Yellow-brown tooth shade" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Yellow-brown discolored teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Yellow-brown tooth shade" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1863008 is_a: HP:0011073 ! Abnormality of dental color @@ -46034,11 +46154,11 @@ name: Advanced eruption of teeth alt_id: HP:0006317 def: "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age." [HPO:ibailleulforestier, pmid:19125428] comment: There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. -synonym: "Advanced dental eruption" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Early dental eruption" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Early eruption of teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Advanced dental eruption" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Early dental eruption" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Early eruption of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Eruption, advanced" EXACT [] -synonym: "Premature dental eruption" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Premature dental eruption" EXACT [ORCID:0000-0001-5889-4463] synonym: "Premature eruption of teeth" EXACT [] synonym: "Premature tooth eruption" EXACT [] xref: SNOMEDCT_US:16000003 @@ -46052,7 +46172,7 @@ alt_id: HP:0006320 def: "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor." [HPO:ibailleulforestier] synonym: "Absent central incisor" EXACT layperson [] synonym: "Absent central incisors" RELATED layperson [] -synonym: "Failure of development of central incisor" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing central incisors" RELATED layperson [] xref: UMLS:C1855000 xref: UMLS:C4020819 @@ -46062,10 +46182,10 @@ is_a: HP:0006485 ! Agenesis of incisor id: HP:0006290 name: Discolored lateral incisors def: "The presence of discolored lateral incisors." [HPO:ibailleulforestier] -synonym: "Abnormality of color of front teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of color of lateral incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of shade of lateral incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Discolored front teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of color of front teeth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of color of lateral incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of shade of lateral incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Discolored front teeth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866510 xref: UMLS:C4280459 is_a: HP:0011063 ! Abnormality of incisor morphology @@ -46073,10 +46193,10 @@ is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006291 name: Marked delay in eruption of permanent teeth -synonym: "Severe delay of eruption of adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Severe delay of eruption of permanent teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Very late eruption of adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Very late eruption of permanent teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Severe delay of eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Severe delay of eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Very late eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Very late eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1863009 is_a: HP:0000696 ! Delayed eruption of permanent teeth @@ -46086,13 +46206,13 @@ name: Abnormality of dental eruption def: "An abnormality of tooth eruption." [HPO:ibailleulforestier] comment: The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars. synonym: "Abnormal dental eruption" EXACT [] -synonym: "Abnormality of tooth eruption" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of dental eruption" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of tooth eruption" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Disorder of dental eruption" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Disorder of tooth eruption" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Disturbance of dental eruption" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Disturbance of tooth eruption" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of tooth eruption" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of dental eruption" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of tooth eruption" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Disorder of dental eruption" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Disorder of tooth eruption" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Disturbance of dental eruption" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Disturbance of tooth eruption" RELATED layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:1086101000119107 xref: SNOMEDCT_US:234949000 xref: UMLS:C0012767 @@ -46104,10 +46224,10 @@ is_a: HP:0000164 ! Abnormality of the dentition id: HP:0006293 name: Agenesis of maxillary central incisor def: "Agenesis of upper secondary incisor or of upper central primary incisor." [HPO:ibailleulforestier] -synonym: "Absence of maxillary central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing maxillary central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper central incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing upper central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025068 xref: UMLS:C4280458 is_a: HP:0006289 ! Agenesis of central incisor @@ -46121,14 +46241,14 @@ alt_id: HP:0001565 alt_id: HP:0003770 def: "Developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier, pmid:18499550] comment: Note that the term enamel dysplasia was previously used for this feature but is no longer recommended. -synonym: "Defective enamel matrix" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Defective enamel matrix" BROAD [ORCID:0000-0001-5889-4463] synonym: "Dental enamel hypoplasia" EXACT [] -synonym: "Dysplasia of tooth enamel" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] synonym: "Enamel dysplasia" RELATED [] synonym: "Enamel hypoplasia" EXACT [] -synonym: "Hypoplasia of tooth enamel" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin dental enamel" BROAD layperson [] -synonym: "Thin tooth enamel" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin tooth enamel" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003744 xref: SNOMEDCT_US:26597004 xref: SNOMEDCT_US:699382004 @@ -46152,19 +46272,19 @@ is_a: HP:0011890 ! Prolonged bleeding following procedure id: HP:0006302 name: Dagger-shaped pulp calcifications def: "Dagger-shaped calcifications in the dental pulp." [HPO:ibailleulforestier] -synonym: "Dagger shaped pulp denticles" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Dagger shaped pulp stones" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Dagger shaped pulp denticles" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Dagger shaped pulp stones" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025067 is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0006304 name: Widely-spaced incisors -synonym: "Anterior diastema of teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Diastema between front teeth" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Diastema between incisors" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Gap between front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Widely spaced front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anterior diastema of teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Diastema between front teeth" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Diastema between incisors" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Gap between front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Widely spaced front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:196409003 xref: UMLS:C0399545 is_a: HP:0000699 ! Diastema @@ -46174,17 +46294,17 @@ is_a: HP:0040159 ! Abnormal spaced incisors id: HP:0006308 name: Atrophy of alveolar ridges synonym: "Alveolar bone loss" RELATED [] -synonym: "Atrophy of alveolar margins" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Atrophy of alveolar processes of jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of alveolar margin" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of alveolar processes of jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of alveolar ridges" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of gum ridges" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Resorption of alveolar margins" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Resorption of alveolar processes of jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Resorption of alveolar ridges" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Shrinking of alveolar ridges" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Shrinking of gum ridges" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Atrophy of alveolar margins" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Atrophy of alveolar processes of jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Flattening of alveolar margin" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Flattening of alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Flattening of alveolar ridges" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Flattening of gum ridges" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Resorption of alveolar margins" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Resorption of alveolar processes of jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Resorption of alveolar ridges" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Shrinking of alveolar ridges" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Shrinking of gum ridges" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855642 xref: UMLS:C4280454 xref: UMLS:C4280455 @@ -46194,11 +46314,11 @@ is_a: HP:0006477 ! Abnormality of the alveolar ridges id: HP:0006311 name: Generalized microdontia def: "A generalized form of microdontia." [HPO:ibailleulforestier] -synonym: "Decreased size of all teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased tooth mass" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of all teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophy of all teeth" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Tooth mass insufficiency" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of all teeth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased tooth mass" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of all teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophy of all teeth" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Tooth mass insufficiency" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C4025065 is_a: HP:0000691 ! Microdontia @@ -46206,12 +46326,12 @@ is_a: HP:0000691 ! Microdontia id: HP:0006313 name: Widely spaced primary teeth def: "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia." [HPO:ibailleulforestier] -synonym: "Generalized spacing of primary teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Wide gaps between baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide gaps between primary teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Widely spaced baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Generalized spacing of primary teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Wide gaps between baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide gaps between primary teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Widely spaced baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Widely spaced deciduous teeth" EXACT [] -synonym: "Widely spaced milk teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Widely spaced milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021603 is_a: HP:0000687 ! Widely spaced teeth is_a: HP:0006481 ! Abnormality of primary teeth @@ -46230,11 +46350,11 @@ synonym: "Single central upper incisor" EXACT [] synonym: "Single maxillary central incisor" EXACT [] synonym: "Single median incisor" EXACT [] synonym: "Single median maxillary central incisor" EXACT [] -synonym: "Single midline maxillary incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Single midline upper front tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Solitary median maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Solitary median maxillary central incisor syndrome" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Solitary midline maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Single midline maxillary incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Single midline upper front tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Solitary median maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Solitary median maxillary central incisor syndrome" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Solitary midline maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C537342 xref: SNOMEDCT_US:707609006 xref: UMLS:C1840235 @@ -46245,22 +46365,22 @@ id: HP:0006316 name: Irregularly spaced teeth alt_id: HP:0009081 def: "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth." [HPO:ibailleulforestier] -synonym: "Irregular dental spacing" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Irregular dental spacing" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Irregularly spaced teeth" EXACT layperson [] -synonym: "Variability of dental spacing" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Variability of spacing between teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Variability of dental spacing" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Variability of spacing between teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1845878 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0006321 name: Multiple non-erupting secondary teeth -synonym: "Failure of eruption of multiple adult teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of eruption of multiple permanent teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Multiple non-erupting adult teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Multiple non-erupting permanent teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Multiple unerupted adult teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Multiple unerupted permanent teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Failure of eruption of multiple adult teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of eruption of multiple permanent teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Multiple non-erupting adult teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Multiple non-erupting permanent teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Multiple unerupted adult teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Multiple unerupted permanent teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1848904 is_a: HP:0000696 ! Delayed eruption of permanent teeth @@ -46272,13 +46392,13 @@ alt_id: HP:0006351 def: "Loss of the primary (also known as deciduous) teeth before the usual age." [HPO:sdoelken] comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth. subset: hposlim_core -synonym: "Early loss of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Early loss of deciduous teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Early loss of primary teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Early loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Early loss of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Early loss of primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Premature deciduous tooth loss" EXACT [] -synonym: "Premature exfoliation of deciduous teeth" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Premature exfoliation of primary teeth" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Premature loss of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Premature exfoliation of deciduous teeth" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Premature exfoliation of primary teeth" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Premature loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Premature loss of deciduous teeth" EXACT [] xref: SNOMEDCT_US:122483006 xref: SNOMEDCT_US:39034005 @@ -46289,11 +46409,11 @@ is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006326 name: Buried teeth encased in mucopolysaccharide -synonym: "Failure of dental eruption due to mucopolysaccharidoses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of tooth eruption due to mucopolysaccharidoses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Impacted teeth due to mucopolysaccharidoses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Unerupted dentition due to mucopolysaccharidoses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Unerupted teeth due to mucopolysaccharidoses" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Failure of dental eruption due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of tooth eruption due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Impacted teeth due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Unerupted dentition due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Unerupted teeth due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025064 is_a: HP:0000164 ! Abnormality of the dentition @@ -46303,18 +46423,18 @@ name: Alveolar process hypoplasia alt_id: HP:0006312 def: "Underdevelopment of the alveolar process (also known as alveolar bone)." [HPO:probinson] comment: The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla. -synonym: "Decreased size of alveolar process of jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of alveolar process of jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of alveolar ridge" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of alveolar process of jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of alveolar ridge" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of alveolar ridge" EXACT [] synonym: "Hypoplastic alveolar bone" EXACT [] -synonym: "Hypotrophic alveolar process of jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic alveolar ridge" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small alveolar process of jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Small alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of alveolar process of jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrophic alveolar process of jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic alveolar ridge" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:708494003 xref: UMLS:C1848905 xref: UMLS:C3872671 @@ -46326,10 +46446,10 @@ is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006330 name: Rotated maxillary central incisors -synonym: "Rotated upper central incisors" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Rotated upper front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Turned upper front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Twisted upper front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Rotated upper central incisors" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Rotated upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Turned upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Twisted upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025063 is_a: HP:0011062 ! Misalignment of incisors @@ -46337,7 +46457,7 @@ is_a: HP:0011062 ! Misalignment of incisors id: HP:0006332 name: Supernumerary maxillary incisor def: "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor." [HPO:ibailleulforestier] -synonym: "Extra upper front tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Extra upper front tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025062 is_a: HP:0011064 ! Abnormal number of incisors is_a: HP:0011069 ! Increased number of teeth @@ -46346,10 +46466,10 @@ is_a: HP:0011069 ! Increased number of teeth id: HP:0006333 name: Crowded maxillary incisors def: "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor." [HPO:ibailleulforestier] -synonym: "Crowded upper front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Crowded upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Crowded upper incisors" EXACT layperson [] -synonym: "Overlapped maxillary incisors" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Overlapped upper front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Overlapped maxillary incisors" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Overlapped upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021602 is_a: HP:0011062 ! Misalignment of incisors @@ -46358,17 +46478,17 @@ id: HP:0006334 name: Hypoplasia of the primary teeth alt_id: HP:0006318 def: "Developmental hypoplasia of the primary teeth." [HPO:ibailleulforestier] -synonym: "Decreased size of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of deciduous teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of milk teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of primary teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic deciduous teeth" EXACT [] -synonym: "Small baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small milk teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small primary teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of milk teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of primary teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Small baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small primary teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of primary teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1855694 is_a: HP:0000685 ! Hypoplasia of teeth is_a: HP:0006481 ! Abnormality of primary teeth @@ -46384,19 +46504,19 @@ alt_id: HP:0006354 def: "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth." [HPO:ibailleulforestier] comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars. synonym: "Deciduous teeth retention" EXACT [] -synonym: "Delayed loss of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Delayed loss of deciduous teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Delayed loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Delayed loss of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Delayed loss of primary teeth" EXACT [] -synonym: "Failure to exfoliate deciduous teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure to exfoliate primary teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure to lose baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure to exfoliate deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure to exfoliate primary teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure to lose baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Persistence of deciduous teeth" EXACT [] -synonym: "Persistent deciduous dentition" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Persistent deciduous dentition" EXACT [ORCID:0000-0001-5889-4463] synonym: "Persistent primary dentition" EXACT [] synonym: "Persistent primary teeth" EXACT [] -synonym: "Retained baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Retained baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Retained deciduous teeth" EXACT [] -synonym: "Retained primary teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Retained primary teeth" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:57650002 xref: UMLS:C0266050 is_a: HP:0006292 ! Abnormality of dental eruption @@ -46406,12 +46526,12 @@ is_a: HP:0006481 ! Abnormality of primary teeth id: HP:0006336 name: Short dental roots def: "Short dental root." [HPO:probinson] -synonym: "Decreased length of dental roots" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased length of tooth roots" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of dental roots" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased length of tooth roots" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short dental roots" EXACT layperson [] -synonym: "Short tooth roots" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Short tooth roots" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdeveloped dental roots" EXACT layperson [] -synonym: "Underdeveloped tooth roots" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Underdeveloped tooth roots" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2678330 is_a: HP:0040220 ! Abnormal size the dental root @@ -46421,11 +46541,11 @@ name: Premature eruption of permanent teeth def: "Premature tooth eruption of the permanent dentition." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Advanced tooth eruption" EXACT [] -synonym: "Early eruption of adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Early eruption of permanent teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Early eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Early eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Precocious eruption of secondary dentition" EXACT [] synonym: "Precocious eruption of secondary teeth" EXACT [] -synonym: "Premature eruption of adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Premature eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021601 is_a: HP:0006288 ! Advanced eruption of teeth @@ -46433,8 +46553,8 @@ is_a: HP:0006288 ! Advanced eruption of teeth id: HP:0006338 name: Malformation of mandibular premolar def: "An abnormality of themorphology of secondary premolar tooth." [HPO:ibailleulforestier] -synonym: "Malformation of lower premolar" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of mandibular bicuspid" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Malformation of lower premolar" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of mandibular bicuspid" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025061 is_a: HP:0011080 ! Abnormality of premolar morphology @@ -46442,12 +46562,12 @@ is_a: HP:0011080 ! Abnormality of premolar morphology id: HP:0006339 name: Conical mandibular incisor def: "An abnormal conical morphology of the primary or permanent mandibular incisors." [HPO:ibailleulforestier] -synonym: "Cone shaped lower front tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Conoid mandibular incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lower front shark tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Peg shaped lower front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Peg shaped mandibular incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Pointed mandibular incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Cone shaped lower front tooth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Conoid mandibular incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lower front shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Peg shaped lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Peg shaped mandibular incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Pointed mandibular incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Pointed mandibular incisors" RELATED [] xref: UMLS:C4020818 xref: UMLS:C4280449 @@ -46458,12 +46578,12 @@ is_a: HP:0011065 ! Conical incisor id: HP:0006342 name: Peg-shaped maxillary lateral incisors def: "Peg-shaped upper lateral secondary incisor tooth." [HPO:ibailleulforestier] -synonym: "Cone shaped upper lateral incisors" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Conical maxillary lateral incisors" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Conoid upper lateral incisors" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Peg laterals" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Peg shaped upper lateral incisors" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Pointed upper lateral incisors" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Cone shaped upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Conical maxillary lateral incisors" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Conoid upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Peg laterals" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Peg shaped upper lateral incisors" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Pointed upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4025060 is_a: HP:0011065 ! Conical incisor @@ -46471,9 +46591,9 @@ is_a: HP:0011065 ! Conical incisor id: HP:0006344 name: Abnormality of primary molar morphology def: "An abnormality of morphology of primary molar." [HPO:ibailleulforestier] -synonym: "Abnormality of deciduous molar morphology" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of shape of baby molar" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of shape of primary molar" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of deciduous molar morphology" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of shape of baby molar" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of shape of primary molar" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025059 is_a: HP:0006481 ! Abnormality of primary teeth is_a: HP:0011070 ! Abnormality of molar morphology @@ -46482,7 +46602,7 @@ is_a: HP:0011070 ! Abnormality of molar morphology id: HP:0006346 name: Screwdriver-shaped incisors def: "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape." [HPO:ibailleulforestier] -synonym: "Screwdriver shaped front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Screwdriver shaped front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Screwdriver-shaped incisors" EXACT layperson [] xref: UMLS:C4025058 is_a: HP:0011063 ! Abnormality of incisor morphology @@ -46491,12 +46611,12 @@ is_a: HP:0011063 ! Abnormality of incisor morphology id: HP:0006347 name: Microdontia of primary teeth def: "Decreased size of the primary teeth." [HPO:ibailleulforestier] -synonym: "Decreased size of primary tooth" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of deciduous teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of milk teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of primary tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Microdontia of deciduous teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of primary tooth" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of primary tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Microdontia of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small deciduous teeth" EXACT [] xref: UMLS:C1855694 xref: UMLS:C1856203 @@ -46511,10 +46631,10 @@ alt_id: HP:0006287 def: "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth." [HPO:probinson] synonym: "Absence of permanent teeth" EXACT [] synonym: "Absent permanent teeth" EXACT [] -synonym: "Agenesis of permanent dentition" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of secondary dentition" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of permanent teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of secondary teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of permanent dentition" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of secondary dentition" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of secondary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing teeth" EXACT layperson [] xref: MSH:C563203 xref: SNOMEDCT_US:109444001 @@ -46529,10 +46649,10 @@ id: HP:0006350 name: Obliteration of the pulp chamber def: "Obliteration of the pulp chambers owing to mineralization of the dental pulp." [pmid:162890] synonym: "Crescent/chevron-shaped pulp chambers" RELATED [] -synonym: "Narrowing of pulp chamber of tooth" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Pulp canal obliteration" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Reduced size of pulp chamber of tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Small pulp chamber of tooth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Narrowing of pulp chamber of tooth" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Pulp canal obliteration" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Reduced size of pulp chamber of tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small pulp chamber of tooth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4020817 xref: UMLS:C4025057 xref: UMLS:C4280448 @@ -46543,11 +46663,11 @@ id: HP:0006352 name: Failure of eruption of permanent teeth alt_id: HP:0006309 def: "Lack of tooth eruption of the secondary dentition." [HPO:ibailleulforestier] -synonym: "Failure of eruption of adult teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Unerupted adult dentition" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Unerupted adult teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unerupted permanent dentition" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Unerupted permanent teeth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of eruption of adult teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Unerupted adult dentition" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Unerupted adult teeth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Unerupted permanent dentition" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Unerupted permanent teeth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025056 xref: UMLS:C4280447 is_a: HP:0000706 ! Unerupted tooth @@ -46556,14 +46676,14 @@ is_a: HP:0000706 ! Unerupted tooth id: HP:0006353 name: Hypoplasia of the tooth germ def: "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth." [HPO:ibailleulforestier] -synonym: "Decreased size of tooth bud" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of tooth germ" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of tooth bud" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of tooth germ" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic tooth buds" RELATED [] -synonym: "Hypotrophic tooth germ" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Small tooth bud" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small tooth germ" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of tooth bud" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of tooth germ" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrophic tooth germ" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small tooth bud" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small tooth germ" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of tooth bud" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of tooth germ" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C4025055 is_a: HP:0000685 ! Hypoplasia of teeth @@ -46571,11 +46691,11 @@ is_a: HP:0000685 ! Hypoplasia of teeth id: HP:0006355 name: Agenesis of mandibular central incisor def: "Agenesis of lower secondary incisor or lower primary incisor." [HPO:ibailleulforestier] -synonym: "Absence of lower central incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of mandibular central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of mandibular central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower central incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing mandibular central incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C1840225 xref: UMLS:C4025054 is_a: HP:0006289 ! Agenesis of central incisor @@ -46585,10 +46705,10 @@ is_a: HP:0200161 ! Agenesis of mandibular incisor id: HP:0006357 name: Premature loss of permanent teeth def: "Premature loss of the permanent teeth." [HPO:ibailleulforestier] -synonym: "Early loss of adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Early loss of permanent teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Early loss of secondary dentition" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Premature loss of adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Early loss of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Early loss of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Early loss of secondary dentition" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Premature loss of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Premature loss of secondary teeth" EXACT [] xref: UMLS:C1969738 is_a: HP:0006480 ! Premature loss of teeth @@ -46597,14 +46717,14 @@ is_a: HP:0006480 ! Premature loss of teeth id: HP:0006358 name: Shovel-shaped maxillary central incisors def: "Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors." [pmid:2212205] -synonym: "Shovel-shaped upper front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Shovel-shaped upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1833168 is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006361 name: Irregular femoral epiphysis -synonym: "Irregular thighbone end part" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850658 is_a: HP:0006499 ! Abnormality of femoral epiphysis is_a: HP:0010582 ! Irregular epiphyses @@ -46653,14 +46773,14 @@ synonym: "Distal ulnar epiphyseal calcifications" EXACT [] xref: UMLS:C4021600 is_a: HP:0010600 ! Abnormality of the distal ulnar epiphysis is_a: HP:0010655 ! Epiphyseal stippling -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0006371 name: Broad long bone diaphyses def: "Increased width of the diaphysis of long bones." [HPO:probinson] -synonym: "Broad shaft of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide shaft of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025053 is_a: HP:0006504 ! Anomaly of the limb diaphyses @@ -46668,7 +46788,7 @@ is_a: HP:0006504 ! Anomaly of the limb diaphyses id: HP:0006375 name: Dumbbell-shaped femur def: "The femur is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] -synonym: "Dumbbell-shaped thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Dumbbell-shaped thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025052 is_a: HP:0000947 ! Dumbbell-shaped long bone is_a: HP:0002823 ! Abnormality of femur morphology @@ -46721,7 +46841,7 @@ name: Rudimentary fibula alt_id: HP:0004986 def: "Absent or nearly absent fibula. (Does not include aplastic)" [] synonym: "Rudimentary to absent fibulae" EXACT [] -synonym: "Small to absent calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Small to absent calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small to absent fibula" EXACT [] xref: UMLS:C1844706 is_a: HP:0003038 ! Fibular hypoplasia @@ -46740,7 +46860,7 @@ alt_id: HP:0006447 def: "An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis." [HPO:probinson] comment: previous def: 'has part' some \n(clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal)) synonym: "Club-shaped distal femora" EXACT [] -synonym: "Club-shaped outermost end of thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Club-shaped outermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857505 is_a: HP:0002823 ! Abnormality of femur morphology @@ -46767,7 +46887,7 @@ is_a: HP:0010597 ! Abnormality of the distal radial epiphysis id: HP:0006387 name: Wide distal femoral metaphysis def: "Increased width of the distal part of the shaft (metaphysis) of the femur." [HPO:probinson] -synonym: "Broad outermost wide portion of thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost wide portion of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide distal metaphysis of femur" EXACT [] xref: UMLS:C1849309 is_a: HP:0030299 ! Distal femoral metaphyseal abnormality @@ -46821,7 +46941,7 @@ is_a: HP:0003045 ! Abnormality of the patella id: HP:0006398 name: Flat distal femoral epiphysis def: "An abnormal flattening of the distal epiphysis of femur." [HPO:sdoelken] -synonym: "Flat end part of outermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flat end part of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flattened distal femoral epiphyses" EXACT [] xref: UMLS:C4021599 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis @@ -46830,7 +46950,7 @@ is_a: HP:0030289 ! Flattened femoral epiphysis [Term] id: HP:0006400 name: Absent knee epiphyses -synonym: "Absent knee end part" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent knee end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859462 is_a: HP:0002815 ! Abnormality of the knee is_a: HP:0010577 ! Absent epiphyses @@ -46838,7 +46958,7 @@ is_a: HP:0010577 ! Absent epiphyses [Term] id: HP:0006402 name: Distal shortening of limbs -synonym: "Short outer part of limbs" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short outer part of limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1840307 is_a: HP:0009826 ! Limb undergrowth @@ -46847,7 +46967,7 @@ id: HP:0006406 name: Club-shaped proximal femur def: "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis." [HPO:probinson] comment: previous def: 'has part' some \n(clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal)) -synonym: "Club-shaped innermost end of thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Club-shaped innermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1968611 is_a: HP:0002823 ! Abnormality of femur morphology @@ -46855,7 +46975,7 @@ is_a: HP:0002823 ! Abnormality of femur morphology id: HP:0006407 name: Irregular distal femoral epiphysis def: "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular." [HPO:probinson] -synonym: "Irregular outermost thighbone end part" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular outermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025050 is_a: HP:0006361 ! Irregular femoral epiphysis is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis @@ -46863,7 +46983,7 @@ is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis [Term] id: HP:0006408 name: Distal tapering femur -synonym: "Tapering of outermost end of thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Tapering of outermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025049 is_a: HP:0002823 ! Abnormality of femur morphology @@ -46877,8 +46997,8 @@ is_a: HP:0006383 ! Progressive bowing of long bones [Term] id: HP:0006413 name: Broad tibial metaphyses -synonym: "Broad wide portion of shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad wide portion of shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad wide portion of shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad wide portion of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2678328 is_a: HP:0006491 ! Abnormality of the tibial metaphysis @@ -46903,7 +47023,7 @@ is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0006417 name: Broad femoral metaphyses -synonym: "Broad wide portion of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad wide portion of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1864854 is_a: HP:0006489 ! Abnormality of the femoral metaphysis @@ -46944,7 +47064,7 @@ alt_id: HP:0008836 def: "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] synonym: "Broadening of femoral neck" EXACT [] synonym: "Wide femoral neck" EXACT [] -synonym: "Wide neck of thigh bone" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Wide neck of thigh bone" EXACT [ORCID:0000-0001-5208-3432] synonym: "Widened femoral necks" EXACT [] xref: UMLS:C1849016 is_a: HP:0003367 ! Abnormality of the femoral neck @@ -46953,7 +47073,7 @@ is_a: HP:0003367 ! Abnormality of the femoral neck id: HP:0006431 name: Proximal femoral metaphyseal abnormality def: "An anomaly of the metaphysis of the proximal femur (close to the hip)." [HPO:probinson] -synonym: "Abnormal wide portion of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal wide portion of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025047 is_a: HP:0006489 ! Abnormality of the femoral metaphysis @@ -46966,7 +47086,7 @@ is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0006433 name: Dysplastic radii -synonym: "Radial longitudinal deficiency" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Radial longitudinal deficiency" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4025046 is_a: HP:0003330 ! Abnormal bone structure is_a: HP:0045009 ! Abnormal morphology of the radius @@ -46985,8 +47105,8 @@ id: HP:0006436 name: Shortening of the tibia alt_id: HP:0006445 synonym: "Marked shortening of tibia" EXACT [] -synonym: "Shortening of the shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Shortening of the shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shortening of the shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Shortening of the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855277 is_a: HP:0005736 ! Short tibia @@ -47000,7 +47120,7 @@ is_a: HP:0002823 ! Abnormality of femur morphology id: HP:0006438 name: Enlargement of the distal femoral epiphysis def: "An abnormal enlargement of the distal epiphysis of the femur." [HPO:probinson] -synonym: "Enlargement of the outermost thighbone end part" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlargement of the outermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large distal femoral epiphyses" EXACT [] xref: UMLS:C1843105 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis @@ -47016,7 +47136,7 @@ is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0006440 name: Increased density of long bone diaphyses -synonym: "Increased density of shaft of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased density of shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844516 is_a: HP:0006392 ! Increased density of long bones is_a: HP:0006504 ! Anomaly of the limb diaphyses @@ -47030,8 +47150,8 @@ is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0006442 name: Hypoplasia of proximal fibula -synonym: "Small innermost upper end of calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped innermost upper end of calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Small innermost upper end of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped innermost upper end of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859478 is_a: HP:0003038 ! Fibular hypoplasia @@ -47042,7 +47162,7 @@ alt_id: HP:0003046 alt_id: HP:0006475 def: "Absence of the patella." [HPO:probinson] subset: hposlim_core -synonym: "Absent kneecap" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent kneecap" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent patella" EXACT [] synonym: "Absent patellae" EXACT [] synonym: "Absent patellas" EXACT [] @@ -47083,7 +47203,7 @@ id: HP:0006454 name: Delayed patellar ossification def: "Formation of bone in the patella later than normal." [HPO:probinson, pmid:6729496] comment: The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (pmid:6729496). -synonym: "Delayed bone maturation of the knee cap" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed bone maturation of the knee cap" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed patellae ossification" EXACT [] xref: UMLS:C4021597 xref: UMLS:C4280446 @@ -47094,8 +47214,8 @@ is_a: HP:0003336 ! Abnormal enchondral ossification id: HP:0006456 name: Irregular proximal tibial epiphyses def: "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular." [HPO:probinson] -synonym: "Irregular innermost shankbone end part" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular innermost shinbone end part" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular innermost shankbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular innermost shinbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025045 is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis @@ -47120,7 +47240,7 @@ alt_id: HP:0003000 def: "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt." [HPO:probinson] synonym: "Slipped capilal femoral epiphysis" EXACT [] synonym: "Slipped capital femoral epiphyses" EXACT [] -synonym: "Slipped end part of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slipped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D060048 xref: UMLS:C0149887 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head @@ -47175,7 +47295,7 @@ id: HP:0006470 name: Thin long bone diaphyses def: "Decreased width of the diaphysis of long bones." [HPO:probinson] synonym: "Thin diaphyses of long bones" EXACT [] -synonym: "Thin shaft of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Thin shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859449 is_a: HP:0006504 ! Anomaly of the limb diaphyses @@ -47206,10 +47326,10 @@ creation_date: 2008-03-28T04:41:00Z id: HP:0006477 name: Abnormality of the alveolar ridges def: "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [HPO:probinson] -synonym: "Abnormality of alveolar margin" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of alveolar processes of jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of dentoalveolar ridges" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of gum ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of alveolar margin" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of dentoalveolar ridges" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Defect in alveolar ridge" EXACT [] xref: SNOMEDCT_US:235013007 xref: UMLS:C0341007 @@ -47222,8 +47342,8 @@ creation_date: 2008-03-28T04:44:00Z id: HP:0006479 name: Abnormality of the dental pulp def: "An abnormality of the dental pulp." [HPO:ibailleulforestier] -synonym: "Abnormality of tooth pulp" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Endodontic abnormality" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of tooth pulp" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Endodontic abnormality" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4025042 is_a: HP:0011061 ! Abnormality of dental structure created_by: peter @@ -47239,7 +47359,7 @@ def: "Premature loss of teeth not related to trauma or neglect." [HPO:ibailleulf subset: hposlim_core synonym: "Early tooth loss" EXACT layperson [] synonym: "Loss of teeth" EXACT layperson [] -synonym: "Premature exfoliation of teeth" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Premature exfoliation of teeth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Premature teeth loss" EXACT layperson [] synonym: "Premature tooth loss" EXACT layperson [] xref: SNOMEDCT_US:234974002 @@ -47255,9 +47375,9 @@ id: HP:0006481 name: Abnormality of primary teeth def: "Any abnormality of the primary tooth." [HPO:ibailleulforestier] comment: Primary teeth are also called temporary teeth or deciduous teeth. -synonym: "Abnormality of baby teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of deciduous teeth" EXACT [] -synonym: "Abnormality of milk teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021596 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter @@ -47269,13 +47389,13 @@ name: Abnormality of dental morphology alt_id: HP:0000697 def: "An abnormality of the morphology of the tooth." [HPO:ibailleulforestier] subset: hposlim_core -synonym: "Abnormality of dental shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of shape of tooth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of dental shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of shape of tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormally shaped teeth" EXACT layperson [] -synonym: "Deformity of teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dental deformity" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dental malformations" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Deformity of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Dental deformity" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Dental malformations" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malformed teeth" EXACT layperson [] synonym: "Misshapen teeth" EXACT layperson [] synonym: "Misshapened teeth" EXACT layperson [] @@ -47292,9 +47412,9 @@ id: HP:0006483 name: Abnormal number of teeth def: "The presence of an altered number of of teeth." [HPO:ibailleulforestier] comment: Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. -synonym: "Abnormal complement of teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal complement of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal number of teeth" EXACT layperson [] -synonym: "Abnormal tooth count" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal tooth count" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:335443002 xref: UMLS:C1290508 is_a: HP:0000164 ! Abnormality of the dentition @@ -47306,10 +47426,10 @@ id: HP:0006485 name: Agenesis of incisor def: "Agenesis of incisor." [HPO:probinson] comment: Failure of one or more incisors to develop. -synonym: "Absence of front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of incisors" RELATED layperson [] -synonym: "Failure of development of incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing incisors" RELATED layperson [] xref: UMLS:C4020815 xref: UMLS:C4020816 @@ -47324,7 +47444,7 @@ id: HP:0006486 name: Abnormality of the dental root def: "An abnormality of the dental root." [HPO:ibailleulforestier] synonym: "Abnormality of the dental root" EXACT layperson [] -synonym: "Abnormality of tooth root" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of tooth root" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025041 is_a: HP:0006482 ! Abnormality of dental morphology created_by: peter @@ -47356,7 +47476,7 @@ creation_date: 2008-03-28T05:56:00Z id: HP:0006488 name: Bowing of the arm def: "A bending or abnormal curvature affecting a long bone of the arm." [HPO:probinson] -synonym: "Bending of the arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bending of the arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bowing of the arm" EXACT layperson [] xref: UMLS:C0426863 is_a: HP:0002817 ! Abnormality of the upper limb @@ -47368,7 +47488,7 @@ creation_date: 2008-03-28T05:57:00Z id: HP:0006489 name: Abnormality of the femoral metaphysis def: "An anomaly of the femoral metaphysis." [HPO:probinson] -synonym: "Abnormality of the wide portion of the femoral bone" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the wide portion of the femoral bone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025040 xref: UMLS:C4280444 is_a: HP:0002823 ! Abnormality of femur morphology @@ -47379,7 +47499,7 @@ creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006490 name: Abnormality of lower-limb metaphyses -synonym: "Abnormality of the wide portion of the lower-limb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the wide portion of the lower-limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025039 is_a: HP:0000944 ! Abnormality of the metaphysis is_a: HP:0002814 ! Abnormality of the lower limb @@ -47389,8 +47509,8 @@ creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006491 name: Abnormality of the tibial metaphysis -synonym: "Abnormality of the wide portion of shankbone" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the wide portion of shinbone" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the wide portion of shankbone" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the wide portion of shinbone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025038 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0006490 ! Abnormality of lower-limb metaphyses @@ -47403,8 +47523,8 @@ name: Aplasia/Hypoplasia of the fibula alt_id: HP:0005672 alt_id: HP:0006421 def: "Absence or underdevelopment of the fibula." [HPO:curators] -synonym: "Absent/small calf bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped calf bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fibular aplasia/hypoplasia" EXACT [] synonym: "Hypoplastic/aplastic fibulae" EXACT [] xref: UMLS:C1856732 @@ -47417,8 +47537,8 @@ creation_date: 2008-03-28T06:03:00Z id: HP:0006493 name: Aplasia/hypoplasia involving bones of the lower limbs def: "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs." [HPO:probinson] -synonym: "Absent/small lower limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped lower limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025037 is_a: HP:0040069 ! Abnormality of lower limb bone is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities @@ -47428,8 +47548,8 @@ creation_date: 2008-03-28T06:04:00Z [Term] id: HP:0006494 name: Aplasia/Hypoplasia involving bones of the feet -synonym: "Absent/small foot bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped foot bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small foot bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped foot bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025036 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs @@ -47444,7 +47564,7 @@ alt_id: HP:0006372 alt_id: HP:0006410 def: "Absence or underdevelopment of the ulna." [HPO:curators] synonym: "Absent-hypoplastic ulnae" EXACT [] -synonym: "Absent/small ulna" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small ulna" EXACT [ORCID:0000-0001-5208-3432] synonym: "Hypoplasia or unilateral/bilateral absence of ulna" EXACT [] synonym: "ulnar hypoplasia/aplasia" EXACT [] xref: UMLS:C1865571 @@ -47457,8 +47577,8 @@ creation_date: 2008-03-28T06:15:00Z id: HP:0006496 name: Aplasia/hypoplasia involving bones of the upper limbs def: "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs." [HPO:probinson] -synonym: "Absent/small bones of the upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped bones of the upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025035 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities @@ -47476,8 +47596,8 @@ alt_id: HP:0006374 def: "Absence or underdevelopment of the patella." [HPO:curators] synonym: "Absent or hypoplastic patellae" EXACT [] synonym: "Absent/hypoplastic patella" EXACT [] -synonym: "Absent/small kneecap" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped kneecap" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small kneecap" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped kneecap" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic or hypoplastic patellae" EXACT [] synonym: "Hypoplastic or absent patella" EXACT [] synonym: "Patellar aplasia/hypoplasia" EXACT [] @@ -47495,7 +47615,7 @@ name: Abnormality of femoral epiphysis alt_id: HP:0006412 alt_id: HP:0008811 def: "An anomaly of a growth plate of a femur." [HPO:probinson] -synonym: "Abnormality of thighbone end part" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025034 is_a: HP:0002823 ! Abnormality of femur morphology is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology @@ -47506,7 +47626,7 @@ creation_date: 2008-03-28T06:28:00Z id: HP:0006500 name: Abnormality of lower limb epiphysis morphology def: "An anomaly of one or more epiphyses of one or both legs." [] -synonym: "Abnormal shape of end part of lower limb end bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of end part of lower limb end bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the lower limbs" EXACT [] xref: UMLS:C4021595 is_a: HP:0002814 ! Abnormality of the lower limb @@ -47519,8 +47639,8 @@ id: HP:0006501 name: Aplasia/Hypoplasia of the radius alt_id: HP:0005718 def: "A small/hypoplastic or absent/aplastic radius." [HPO:probinson] -synonym: "Absent/small radius" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped radius" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Absent/small radius" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped radius" EXACT [ORCID:0000-0001-6908-9849] synonym: "Radial aplasia/hypoplasia" EXACT [] xref: UMLS:C2749463 is_a: HP:0002818 ! Abnormality of the radius @@ -47532,8 +47652,8 @@ creation_date: 2008-03-28T06:32:00Z id: HP:0006502 name: Aplasia/Hypoplasia involving the carpal bones def: "Absence or underdevelopment of the carpal bones." [HPO:curators] -synonym: "Absent/small wrist bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped wrist bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025033 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand @@ -47544,8 +47664,8 @@ creation_date: 2008-03-28T06:35:00Z id: HP:0006503 name: Aplasia/hypoplasia involving forearm bones def: "Absence (due to failure to form) or underdevelopment of one or more forearm bones." [HPO:probinson] -synonym: "Absent/small forearm bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped forearm bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025032 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0040072 ! Abnormality of forearm bone @@ -47557,7 +47677,7 @@ id: HP:0006504 name: Anomaly of the limb diaphyses def: "A structural abnormality of a diaphysis of the arm or leg." [HPO:probinson] synonym: "Abnormality involving the diaphyses of the limbs" EXACT [] -synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021594 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0002813 ! Abnormality of limb bone morphology @@ -47569,7 +47689,7 @@ id: HP:0006505 name: Abnormality of limb epiphysis morphology def: "An anomaly of one or more epiphyses of a limb." [] comment: An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. -synonym: "Abnormal shape of end part of limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of end part of limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the limbs" EXACT [] xref: UMLS:C4021593 is_a: HP:0002813 ! Abnormality of limb bone morphology @@ -47581,8 +47701,8 @@ creation_date: 2008-03-28T06:48:00Z id: HP:0006507 name: Aplasia/hypoplasia of the humerus def: "Absence (due to failure to form) or underdevelopment of the humerus." [HPO:probinson] -synonym: "Absent/small long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025031 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs @@ -47592,7 +47712,7 @@ creation_date: 2008-03-29T09:15:00Z [Term] id: HP:0006508 name: Abnormality of tibial epiphyses -synonym: "Abnormality of end part of shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025030 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology @@ -47602,10 +47722,10 @@ creation_date: 2008-03-29T09:19:00Z [Term] id: HP:0006509 name: Diverticulosis of trachea -synonym: "Tracheal diverticulum" EXACT [http://orcid.org/0000-0001-5208-3432, http://radiopaedia.org/articles/tracheal-diverticulum] +synonym: "Tracheal diverticulum" EXACT [http://radiopaedia.org/articles/tracheal-diverticulum, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:14011008 xref: UMLS:C0340213 -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0006510 @@ -47669,6 +47789,7 @@ name: Pulmonary venous occlusion def: "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition." [HPO:probinson, NIHR:ldaugherty, PMID:20456932, PMID:27009171] comment: This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough. synonym: "Pulmonary venoocclusive disease" RELATED [] +xref: Fyler:3002 xref: MSH:D011668 xref: SNOMEDCT_US:89420002 xref: UMLS:C0034091 @@ -47706,7 +47827,7 @@ is_a: HP:0006529 ! Abnormal pulmonary lymphatics [Term] id: HP:0006522 name: Repeated pneumothoraces -synonym: "Repeated pneumothorax" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Repeated pneumothorax" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025027 is_a: HP:0002107 ! Pneumothorax @@ -47714,7 +47835,7 @@ is_a: HP:0002107 ! Pneumothorax id: HP:0006524 name: Tracheobronchial leiomyomatosis xref: UMLS:C3806786 -is_a: HP:0005607 ! Abnormality of the tracheobronchial system +is_a: HP:0100552 ! Neoplasm of the tracheobronchial system [Term] id: HP:0006525 @@ -47803,8 +47924,8 @@ is_a: HP:0025426 ! Abnormal bronchus morphology id: HP:0006535 name: Recurrent intrapulmonary hemorrhage def: "A recurrent hemorrhage occurring within the lung." [HPO:gcarletti] -synonym: "Recurrent bleeding into lungs" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Recurrent pulmonary hemorrhage" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Recurrent bleeding into lungs" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Recurrent pulmonary hemorrhage" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C3805919 is_a: HP:0040223 ! Pulmonary hemorrhage @@ -47822,14 +47943,14 @@ is_a: HP:0002795 ! Functional respiratory abnormality id: HP:0006538 name: Recurrent bronchopulmonary infections def: "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections." [HPO:probinson] -synonym: "Recurrent infections in bronchi and lungs" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Recurrent infections in bronchi and lungs" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2169795 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0006539 name: Bronchial cartilage hypoplasia -synonym: "Underdevelopment of the bronical cartilage" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdevelopment of the bronical cartilage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025024 is_a: HP:0025426 ! Abnormal bronchus morphology @@ -47864,6 +47985,7 @@ name: Pulmonary arteriovenous malformation alt_id: HP:0002114 alt_id: HP:0006537 synonym: "Pulmonary av malformation" EXACT [] +xref: Fyler:2210 xref: UMLS:C1857690 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature is_a: HP:0100026 ! Arteriovenous malformation @@ -47923,8 +48045,8 @@ name: Hepatic calcification def: "The presence of abnormal calcium deposition in the liver." [HPO:probinson] synonym: "Liver calcifications" EXACT [] xref: UMLS:C1696466 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0010766 ! Ectopic calcification +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0006560 @@ -48005,7 +48127,7 @@ is_a: HP:0006562 ! Viral hepatitis id: HP:0006573 name: Acute hepatic steatosis def: "An acute form of hepatic steatosis." [HPO:probinson] -synonym: "Acute fatty liver" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Acute fatty liver" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025020 is_a: HP:0001397 ! Hepatic steatosis @@ -48028,7 +48150,7 @@ is_a: HP:0001406 ! Intrahepatic cholestasis [Term] id: HP:0006576 name: Hepatic vascular malformations -synonym: "Liver vascular malformations" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Liver vascular malformations" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1861790 is_a: HP:0006707 ! Abnormality of the hepatic vasculature @@ -48049,7 +48171,7 @@ alt_id: HP:0000986 def: "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants." [HPO:probinson] synonym: "Jaundice, neonatal" RELATED [HPO:skoehler] synonym: "Neonatal jaundice" EXACT [] -synonym: "Prolonged yellowing of skin in newborn" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Prolonged yellowing of skin in newborn" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D007567 xref: SNOMEDCT_US:387712008 xref: UMLS:C0022353 @@ -48071,7 +48193,7 @@ id: HP:0006581 name: Depletion of mitochondrial DNA in liver def: "An abnormal reduction in the number of mitochondria in hepatocytes." [HPO:probinson] xref: UMLS:C4025018 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0006582 @@ -48093,7 +48215,7 @@ id: HP:0006584 name: Small abnormally formed scapulae alt_id: HP:0006629 synonym: "Small abnormally formed scapula" EXACT [] -synonym: "Small abnormally formed shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small abnormally formed shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861226 is_a: HP:0000882 ! Hypoplastic scapulae @@ -48118,7 +48240,7 @@ is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles id: HP:0006587 name: Straight clavicles def: "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved ." [HPO:probinson] -synonym: "Straight collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Straight collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025016 is_a: HP:0000889 ! Abnormality of the clavicle @@ -48156,7 +48278,7 @@ id: HP:0006595 name: Scapulohumeral synostosis alt_id: HP:0010792 def: "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint." [HPO:probinson] -synonym: "Fusion of shoulder blade to long bone in upper arm" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fusion of shoulder blade to long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Humero-scapulo synostosis" EXACT [] synonym: "Humeroscapular synostosis" EXACT [] synonym: "Synostosis of shoulder joint" EXACT [] @@ -48181,7 +48303,7 @@ name: Diaphragmatic paralysis def: "The presence of a paralyzed diaphragm." [HPO:probinson, pmid:3612666] comment: Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue. synonym: "Diaphragmatic paralysis" EXACT layperson [] -synonym: "Paralyzed diaphragm" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Paralyzed diaphragm" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D012133 xref: SNOMEDCT_US:64228003 xref: UMLS:C0035232 @@ -48238,7 +48360,7 @@ is_a: HP:0012306 ! Abnormal rib ossification id: HP:0006608 name: Midclavicular hypoplasia def: "Underdevelopment of the middle portion of the clavicle." [HPO:probinson] -synonym: "Underdeveloped middle portion of the collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped middle portion of the collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844530 is_a: HP:0000894 ! Short clavicles @@ -48267,7 +48389,7 @@ is_a: HP:0011863 ! Abnormal sternal ossification id: HP:0006615 name: Absent in utero rib ossification def: "Lack of formation and mineralization of the ribs in utero." [HPO:probinson] -synonym: "Absent rib calcification in utero" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent rib calcification in utero" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1842695 is_a: HP:0012306 ! Abnormal rib ossification @@ -48301,7 +48423,7 @@ name: Absent sternal ossification alt_id: HP:0006654 alt_id: HP:0006666 def: "Lack of formation of mineralized bony tissue of the sternum." [HPO:probinson] -synonym: "Absent bone maturation in sternum" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent bone maturation in sternum" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Absent sternal mineralization" EXACT [] synonym: "Lack of sternal ossification" EXACT [] xref: UMLS:C1857074 @@ -48312,9 +48434,9 @@ is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006631 name: Hypoplastic distal segments of scapulae -synonym: "Small distal segments of the shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small distal segments of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small outermost segments of shoulder blade" BROAD [] -synonym: "Underdeveloped outermost segments of shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped outermost segments of shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025014 is_a: HP:0000882 ! Hypoplastic scapulae @@ -48333,7 +48455,7 @@ is_a: HP:0011912 ! Abnormality of the glenoid fossa id: HP:0006634 name: Osteosclerosis of ribs def: "Osteosclerosis of ribs (increased density related to increased bone mass)." [HPO:probinson] -synonym: "Increased bone density in ribs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in ribs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025013 is_a: HP:0012306 ! Abnormal rib ossification @@ -48348,7 +48470,7 @@ is_a: HP:0010766 ! Ectopic calcification id: HP:0006638 name: Midclavicular aplasia def: "Developmental defect resulting in congenital absence of the middle portion of the clavicle." [HPO:probinson] -synonym: "Missing middle part of collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Missing middle part of collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844529 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles @@ -48390,7 +48512,7 @@ is_a: HP:0001547 ! Abnormality of the rib cage id: HP:0006645 name: Thin clavicles def: "Abnormally reduced diameter (cross section) of the clavicles." [HPO:probinson] -synonym: "Thin collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Thin collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:298764003 xref: UMLS:C0575535 is_a: HP:0000889 ! Abnormality of the clavicle @@ -48424,7 +48546,7 @@ is_a: HP:0012531 ! Pain [Term] id: HP:0006650 name: Thickening of the lateral border of the scapula -synonym: "Thickening of the lateral border of the shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Thickening of the lateral border of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834383 is_a: HP:0000782 ! Abnormality of the scapula @@ -48441,8 +48563,8 @@ alt_id: HP:0006614 alt_id: HP:0006653 synonym: "Hypoplastic first rib" EXACT [] synonym: "Hypoplastic first ribs" EXACT [] -synonym: "Small first rib" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped first rib" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small first rib" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped first rib" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834386 is_a: HP:0000773 ! Short ribs @@ -48459,7 +48581,7 @@ name: Aplastic clavicles def: "Absence of the clavicles as a developmental defect." [HPO:probinson] subset: hposlim_core synonym: "Absent clavicles" EXACT [] -synonym: "Absent collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857665 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles @@ -48475,8 +48597,8 @@ is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006668 name: Twelfth rib hypoplasia -synonym: "Small twelfth rib" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped twelfth rib" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small twelfth rib" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped twelfth rib" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859361 is_a: HP:0000773 ! Short ribs @@ -48584,7 +48706,7 @@ is_a: HP:0001649 ! Tachycardia id: HP:0006689 name: Bacterial endocarditis def: "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken] -synonym: "Infective endocarditis" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Infective endocarditis" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D004697 xref: SNOMEDCT_US:301183007 xref: UMLS:C0014121 @@ -48598,6 +48720,7 @@ name: Myocardial calcification def: "Calcium deposition in the myocardium." [HPO:probinson] comment: Calcification affecting the muscle layer of the heart. synonym: "Calcified myocardium" EXACT [] +xref: Fyler:1889 xref: UMLS:C1096561 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology is_a: HP:0011915 ! Cardiovascular calcification @@ -48639,6 +48762,9 @@ def: "A defect of the atrioventricular septum of the heart." [HPO:probinson, pmi comment: During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. synonym: "Atrioventricular septal defect" EXACT [] synonym: "Endocardial cushion defect" EXACT [] +xref: Fyler:0606 +xref: Fyler:1100 +xref: Fyler:606 xref: MSH:C562831 xref: MSH:D004694 xref: SNOMEDCT_US:15459006 @@ -48691,8 +48817,8 @@ is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0006703 name: Aplasia/Hypoplasia of the lungs -synonym: "Absent/small lungs" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped lungs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small lungs" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped lungs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024996 is_a: HP:0002088 ! Abnormal lung morphology created_by: peter @@ -48702,6 +48828,7 @@ creation_date: 2008-03-29T03:17:00Z id: HP:0006704 name: Abnormal coronary artery morphology def: "Any structural abnormality of the coronary arteries." [HPO:probinson] +xref: Fyler:3100 xref: SNOMEDCT_US:28574005 xref: UMLS:C0158623 is_a: HP:0011004 ! Abnormal systemic arterial morphology @@ -48725,7 +48852,7 @@ name: Cystic liver disease xref: MSH:C536330 xref: SNOMEDCT_US:72925005 xref: UMLS:C0158683 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2008-03-29T03:37:00Z @@ -48733,11 +48860,11 @@ creation_date: 2008-03-29T03:37:00Z id: HP:0006707 name: Abnormality of the hepatic vasculature def: "An abnormality of the hepatic vasculature." [HPO:probinson] -synonym: "Abnormality of liver blood vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of liver blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the liver vasculature" EXACT [] xref: UMLS:C4024994 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002597 ! Abnormality of the vasculature +is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2008-03-29T03:41:00Z @@ -48747,8 +48874,8 @@ name: Aplasia/Hypoplasia of the nipples alt_id: HP:0006602 alt_id: HP:0006669 synonym: "Absent/rudimentary nipples" EXACT [] -synonym: "Absent/small nipples" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped nipples" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small nipples" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped nipples" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Nipples absent or rudimentary" EXACT [] xref: UMLS:C3150086 is_a: HP:0004404 ! Abnormal nipple morphology @@ -48759,8 +48886,8 @@ creation_date: 2008-03-29T03:51:00Z id: HP:0006710 name: Aplasia/Hypoplasia of the clavicles def: "Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators] -synonym: "Absent/small collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024993 is_a: HP:0000889 ! Abnormality of the clavicle is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax @@ -48770,8 +48897,8 @@ creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006711 name: Aplasia/Hypoplasia involving bones of the thorax -synonym: "Absent/small outermost thorax bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped thorax bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost thorax bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped thorax bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024992 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton @@ -48782,8 +48909,8 @@ creation_date: 2008-03-29T03:53:00Z id: HP:0006712 name: Aplasia/Hypoplasia of the ribs alt_id: HP:0006636 -synonym: "Absent/small ribs" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped ribs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small ribs" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped ribs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic or missing ribs" EXACT [] xref: UMLS:C1847363 is_a: HP:0000772 ! Abnormality of the ribs @@ -48794,8 +48921,8 @@ creation_date: 2008-03-29T03:54:00Z [Term] id: HP:0006713 name: Aplasia/Hypoplasia of the scapulae -synonym: "Absent/small shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024991 is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax @@ -48805,8 +48932,8 @@ creation_date: 2008-03-29T03:58:00Z [Term] id: HP:0006714 name: Aplasia/Hypoplasia of the sternum -synonym: "Absent/small sternum" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped sternum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small sternum" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped sternum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024990 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax @@ -48839,7 +48966,7 @@ is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0006719 name: Benign gastrointestinal tract tumors -synonym: "Non-cancerous GI tumors" EXACT layperson [orcid.org/0000-0001-9114-8737] +synonym: "Non-cancerous GI tumors" EXACT layperson [ORCID:0000-0001-9114-8737] xref: SNOMEDCT_US:92118007 xref: UMLS:C0497538 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract @@ -48919,7 +49046,7 @@ is_a: HP:0006766 ! Papillary renal cell carcinoma id: HP:0006733 name: Acute megakaryocytic leukemia def: "A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts." [] -synonym: "AMegL" EXACT [] {subsetdef="HP:0045077"} +synonym: "AMegL" EXACT HP:0045077 [] xref: MSH:D015470 xref: SNOMEDCT_US:17788007 xref: SNOMEDCT_US:413443009 @@ -48931,7 +49058,7 @@ is_a: HP:0002488 ! Acute leukemia id: HP:0006735 name: Renal cortical adenoma def: "The presence of an adenoma in the cortex of the kidney." [HPO:probinson] -synonym: "Kidney cortical adenoma" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Kidney cortical adenoma" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:254919009 xref: UMLS:C0346253 is_a: HP:0009726 ! Renal neoplasm @@ -49022,7 +49149,7 @@ is_a: HP:0100642 ! Neoplasm of the adrenal medulla [Term] id: HP:0006749 name: Malignant gastrointestinal tract tumors -synonym: "Malignant gi tract tumors" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Malignant gi tract tumors" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D005770 xref: SNOMEDCT_US:428905002 xref: UMLS:C0685938 @@ -49040,7 +49167,7 @@ name: Neoplasm of the stomach def: "A tumor (abnormal growth of tissue) of the stomach." [HPO:probinson] synonym: "Increased gastric cancer" RELATED [] synonym: "Neoplasia of the stomach" RELATED [] -synonym: "Stomach tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Stomach tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D013274 xref: SNOMEDCT_US:126824007 xref: UMLS:C0038356 @@ -49143,7 +49270,7 @@ is_a: HP:0005584 ! Renal cell carcinoma id: HP:0006771 name: Duodenal adenocarcinoma def: "A malignant epithelial tumor with a glandular organization that originates in the duodenum." [HPO:probinson] -synonym: "Duodenal cancer" RELATED [http://orcid.org/0000-0001-6908-9849] +synonym: "Duodenal cancer" RELATED [ORCID:0000-0001-6908-9849] xref: MSH:D004379 xref: SNOMEDCT_US:254570009 xref: SNOMEDCT_US:408644002 @@ -49158,7 +49285,7 @@ alt_id: HP:0100873 def: "A benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [HPO:probinson] comment: Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. synonym: "Angiomyolipoma" EXACT [] -synonym: "Kidney angiomyolipoma" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Kidney angiomyolipoma" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:254921004 xref: UMLS:C0241961 is_a: HP:0008696 ! Renal hamartoma @@ -49181,7 +49308,7 @@ is_a: HP:0100615 ! Ovarian neoplasm id: HP:0006775 name: Multiple myeloma def: "A malignant plasma cell tumor growing within soft tissue or within the skeleton." [HPO:sdoelken] -synonym: "Kahler's disease" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Kahler's disease" EXACT [ORCID:0000-0001-6908-9849] synonym: "Plasmocytoma" RELATED [] xref: MSH:D009101 xref: MSH:D010954 @@ -49246,14 +49373,14 @@ is_a: HP:0000600 ! Abnormality of the pharynx id: HP:0006784 name: Paranasal sinus hypoplasia def: "Underdevelopment of the paranasal sinuses." [HPO:probinson] -synonym: "Atelectasis of paranasal sinus" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Decreased growth of paranasal sinus" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased pneumatization of paranasal sinus" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of paranasal sinus" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of paranasal sinus" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic paranasal sinus" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small paranasal sinus" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of paranasal sinus" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Atelectasis of paranasal sinus" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Decreased growth of paranasal sinus" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased pneumatization of paranasal sinus" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic paranasal sinus" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small paranasal sinus" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C2749161 xref: UMLS:C4280256 xref: UMLS:C4280441 @@ -49369,7 +49496,7 @@ is_a: HP:0002334 ! Abnormality of the cerebellar vermis id: HP:0006818 name: Type I lissencephaly def: "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development." [HPO:probinson] -synonym: "Classic lissencephaly" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Classic lissencephaly" EXACT [ORCID:0000-0001-6908-9849] synonym: "Lissencephaly, type I" EXACT [] synonym: "Type 1 lissencephaly" EXACT [] xref: MSH:D054221 @@ -49406,7 +49533,7 @@ is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord [Term] id: HP:0006827 name: Atrophy of the spinal cord -synonym: "Degeneration of the spinal cord" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Degeneration of the spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1389102 is_a: HP:0007344 ! Atrophy/Degeneration involving the spinal cord @@ -49423,8 +49550,8 @@ is_a: HP:0001252 ! Muscular hypotonia id: HP:0006830 name: Severe neonatal hypotonia in males comment: This term needs to be made obsolete or revised. -synonym: "Congenital hypotonia" RELATED [orcid.org/0000-0001-6908-9849] -synonym: "Severe floppy baby syndrome in males" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Congenital hypotonia" RELATED [ORCID:0000-0001-6908-9849] +synonym: "Severe floppy baby syndrome in males" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:205294008 xref: SNOMEDCT_US:33010005 xref: UMLS:C0270971 @@ -49450,7 +49577,7 @@ is_a: HP:0002277 ! Horner syndrome id: HP:0006844 name: Absent patellar reflexes def: "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella." [HPO:probinson] -synonym: "Absent knee jerk reflex" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent knee jerk reflex" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:274817009 xref: UMLS:C0558844 is_a: HP:0002522 ! Areflexia of lower limbs @@ -49472,7 +49599,7 @@ is_a: HP:0002079 ! Hypoplasia of the corpus callosum id: HP:0006850 name: Hypoplasia of the ventral pons def: "Underdevelopment of the ventral portion of the pons." [HPO:probinson] -synonym: "Underdeveloped ventral pons" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped ventral pons" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1843507 is_a: HP:0007361 ! Abnormality of the pons @@ -49553,8 +49680,8 @@ is_a: HP:0001360 ! Holoprosencephaly id: HP:0006872 name: Cerebral hypoplasia def: "Underdevelopment of the cerebrum." [HPO:probinson] -synonym: "Small cerebrum" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped cerebrum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855330 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum @@ -49730,7 +49857,7 @@ is_a: HP:0002514 ! Cerebral calcification id: HP:0006913 name: Frontal cortical atrophy def: "Atrophy of the frontal cortex." [HPO:probinson] -synonym: "Frontal cortex degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Frontal cortex degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024965 is_a: HP:0002120 ! Cerebral cortical atrophy @@ -49950,7 +50077,7 @@ is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0006962 name: Gait instability, worse in the dark -synonym: "Unstable walking, worse in the dark" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Unstable walking, worse in the dark" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837016 is_a: HP:0002317 ! Unsteady gait @@ -50025,7 +50152,7 @@ is_a: HP:0003409 ! Distal sensory impairment of all modalities [Term] id: HP:0006986 name: Upper limb spasticity -synonym: "Uncontrollable movement in upper arms" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uncontrollable movement in upper arms" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:394680009 xref: UMLS:C1273957 is_a: HP:0001257 ! Spasticity @@ -50277,7 +50404,7 @@ is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007036 name: Hypoplasia of olfactory tract -synonym: "Underdeveloped olfactory tract" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped olfactory tract" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1856655 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system @@ -50343,14 +50470,14 @@ is_a: HP:0002370 ! Poor coordination id: HP:0007058 name: Generalized cerebral atrophy/hypoplasia def: "Generalized atrophy or hypoplasia of the cerebrum." [HPO:sdoelken] -synonym: "Generalized cerebral degeneration/underdevelopment" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Generalized cerebral degeneration/underdevelopment" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024945 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0007063 name: Aplasia of the inferior half of the cerebellar vermis -synonym: "Absent inferior half of the cerebellar vermis" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent inferior half of the cerebellar vermis" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1857787 is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis @@ -50446,7 +50573,7 @@ id: HP:0007083 name: Hyperactive patellar reflex synonym: "Brisk knee jerk" RELATED layperson [] synonym: "Hyperreflexia in knees" EXACT [] -synonym: "Overactive knee reflex" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Overactive knee reflex" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C0240116 is_a: HP:0002395 ! Lower limb hyperreflexia @@ -50480,7 +50607,7 @@ is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0007096 name: Hypoplasia of the optic tract -synonym: "Underdeveloped optic tract" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped optic tract" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856654 is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract @@ -50822,8 +50949,8 @@ is_a: HP:0001339 ! Lissencephaly id: HP:0007188 name: Congenital facial diplegia def: "Facial diplegia (that is, bilateral facial palsy) with congenital onset." [HPO:curators] -synonym: "Congenital bilateral facial palsy" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Congenital bilateral facial weakness" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Congenital bilateral facial palsy" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Congenital bilateral facial weakness" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C531747 xref: UMLS:C0853240 is_a: HP:0001349 ! Facial diplegia @@ -50860,7 +50987,7 @@ is_a: HP:0100786 ! Hypersomnia id: HP:0007201 name: Cerebral artery atherosclerosis def: "Atherosclerosis (HP:0002621) of a cerebral artery." [HPO:probinson] -synonym: "Plaque build-up in cerebral artery" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Plaque build-up in cerebral artery" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024924 is_a: HP:0002621 ! Atherosclerosis is_a: HP:0009145 ! Abnormal cerebral artery morphology @@ -50905,7 +51032,7 @@ def: "Complete loss of ability to move facial muscles innervated by the facial n comment: Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment. subset: hposlim_core synonym: "Facial paralysis" EXACT layperson [] -synonym: "Facial paresis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Facial paresis" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D005158 xref: SNOMEDCT_US:280816001 xref: SNOMEDCT_US:95666008 @@ -51121,8 +51248,8 @@ is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum id: HP:0007269 name: Spinal muscular atrophy def: "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:probinson] -synonym: "Spinal muscle degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Spinal muscle wasting" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Spinal muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Spinal muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009134 xref: SNOMEDCT_US:5262007 xref: UMLS:C0026847 @@ -51132,7 +51259,7 @@ is_a: HP:0003202 ! Skeletal muscle atrophy id: HP:0007270 name: Atypical absence seizures def: "Absence seizures characterized by insidious begin and end and often prolonged duration, accompanied by slow spike-wave discharges on EEG." [HPO:probinson] -synonym: "Atypical petit mal seizures" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Atypical petit mal seizures" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:23374007 xref: UMLS:C0595948 is_a: HP:0002121 ! Absence seizures @@ -51184,10 +51311,10 @@ is_a: HP:0012759 ! Neurodevelopmental abnormality id: HP:0007285 name: Facial palsy secondary to cranial hyperostosis def: "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve." [HPO:probinson] -synonym: "Facial palsy caused by enlargement of cranial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Facial palsy caused by excessive growth of facial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Facial palsy caused by overgrowth of cranial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Facial palsy secondary to hypertrophy of cranial bones" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Facial palsy caused by enlargement of cranial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Facial palsy caused by excessive growth of facial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Facial palsy caused by overgrowth of cranial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Facial palsy secondary to hypertrophy of cranial bones" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849260 is_a: HP:0005465 ! Facial hyperostosis @@ -51280,7 +51407,7 @@ is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0007311 name: Short stepped shuffling gait -synonym: "Short stepped shuffling walk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short stepped shuffling walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805715 is_a: HP:0002362 ! Shuffling gait @@ -51369,7 +51496,7 @@ alt_id: HP:0002424 def: "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken] synonym: "Frontal lobe hypoplasia" EXACT [] synonym: "Hypoplastic frontal lobes" EXACT [] -synonym: "Underdeveloped frontal lobe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped frontal lobe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849172 is_a: HP:0002538 ! Abnormality of the cerebral cortex is_a: HP:0006872 ! Cerebral hypoplasia @@ -51483,7 +51610,7 @@ is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0007354 name: Amyotrophic lateral sclerosis -synonym: "Lou gehrig's disease" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Lou gehrig's disease" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D000690 xref: SNOMEDCT_US:86044005 xref: UMLS:C0002736 @@ -51508,8 +51635,8 @@ id: HP:0007360 name: Aplasia/Hypoplasia of the cerebellum alt_id: HP:0006857 alt_id: HP:0007368 -synonym: "Absent/small cerebellum" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped cerebellum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Atrophy/Degeneration affecting the cerebellum" EXACT [] synonym: "Atrophy/Hypoplasia of the cerebellum" EXACT [] synonym: "Cerebellar hypoplasia/atrophy" EXACT [] @@ -51533,8 +51660,8 @@ creation_date: 2008-03-31T05:32:00Z [Term] id: HP:0007362 name: Aplasia/Hypoplasia of the brainstem -synonym: "Absent/small brainstem" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped brainstem" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small brainstem" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped brainstem" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024904 is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system @@ -51553,8 +51680,8 @@ creation_date: 2008-03-31T05:41:00Z [Term] id: HP:0007364 name: Aplasia/Hypoplasia of the cerebrum -synonym: "Absent/small cerebrum" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped cerebrum" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent/small cerebrum" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped cerebrum" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024902 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system @@ -51646,7 +51773,7 @@ creation_date: 2008-04-01T10:38:00Z id: HP:0007373 name: Motor neuron atrophy def: "Wasting involving the motor neuron." [HPO:probinson] -synonym: "Motor neuron degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Motor neuron degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024896 is_a: HP:0002450 ! Abnormal motor neuron morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system @@ -51699,7 +51826,7 @@ def: "A tumor (abnormal growth of tissue) of the gastrointestinal tract." [HPO:p synonym: "Gastrointestinal tract neoplasia" EXACT [] synonym: "Gastrointestinal tract neoplasm" EXACT [] synonym: "Gastrointestinal tract tumor" EXACT layperson [] -synonym: "GI tract tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "GI tract tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005770 xref: SNOMEDCT_US:126768004 xref: UMLS:C0017185 @@ -51761,10 +51888,10 @@ alt_id: HP:0007568 def: "A developmental defect resulting in the congenital absence of skin on the scalp." [HPO:probinson] subset: hposlim_core synonym: "Defect of scalp" BROAD [] -synonym: "Focal absence of scalp tissue" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Focal absence of scalp tissue" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Scalp aplasia cutis congenita" EXACT [] synonym: "Scalp defect" BROAD [] -synonym: "Solitary scalp defect" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Solitary scalp defect" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C1855698 xref: UMLS:C4048801 xref: UMLS:C4072857 @@ -51775,7 +51902,7 @@ is_a: HP:0001057 ! Aplasia cutis congenita id: HP:0007387 name: Hypoplastic sweat glands def: "Underdevelopment of the sweat glands." [HPO:curators] -synonym: "Underdeveloped sweat glands" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1832455 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands @@ -51814,7 +51941,7 @@ is_a: HP:0008064 ! Ichthyosis id: HP:0007396 name: Early cutaneous photosensitivity def: "Photosensitivity of the skin occurring early in life." [HPO:probinson] -synonym: "Sun sensitivity occuring early in life" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Sun sensitivity occuring early in life" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024889 is_a: HP:0000992 ! Cutaneous photosensitivity @@ -51840,7 +51967,7 @@ is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007401 name: Macular atrophy -def: "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [UManchester:psergouniotis] +def: "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [ORCID:0000-0003-0986-4123] xref: MSH:D057088 xref: SNOMEDCT_US:238828009 xref: UMLS:C1288283 @@ -51856,7 +51983,7 @@ is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007403 name: Hypertrophy of skin of soles -synonym: "Thick skin of soles" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Thick skin of soles" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1867617 is_a: HP:0100872 ! Abnormality of the plantar skin of foot @@ -51870,9 +51997,9 @@ is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007406 name: Hyperpigmentation of eyelids -synonym: "Brown eyelids" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dark eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pigmentation of eyelids" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Brown eyelids" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Dark eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Pigmentation of eyelids" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:C562400 xref: SNOMEDCT_US:41115008 xref: UMLS:C0155211 @@ -51884,7 +52011,7 @@ is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007407 name: Excessive skin wrinkling on dorsum of hands and fingers -synonym: "Excessive skin wrinkling on back of hands and fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Excessive skin wrinkling on back of hands and fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837467 is_a: HP:0007392 ! Excessive wrinkled skin @@ -51906,7 +52033,7 @@ id: HP:0007410 name: Palmoplantar hyperhidrosis alt_id: HP:0007624 def: "An abnormally increased perspiration on palms and soles." [HPO:probinson] -synonym: "Excessive sweating of palms and soles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Excessive sweating of palms and soles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperhidrosis of palms and soles" EXACT [] xref: MSH:C563185 xref: SNOMEDCT_US:403375001 @@ -51930,14 +52057,14 @@ is_a: HP:0001034 ! Hypermelanotic macule id: HP:0007413 name: Nevus flammeus of the forehead def: "Naevus flammeus localised in the skin of the forehead." [HPO:sdoelken] -synonym: "Port-wine stain on forehead" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Port-wine stain on forehead" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848850 is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007414 name: Neonatal wrinkled skin of hands and feet -synonym: "Wrinkled skin of hands and feet in newborn" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wrinkled skin of hands and feet in newborn" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024884 is_a: HP:0100678 ! Premature skin wrinkling @@ -51981,8 +52108,8 @@ is_a: HP:0007380 ! Facial telangiectasia [Term] id: HP:0007425 name: Hyperextensible skin of face -synonym: "Hyperelastic face skin" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Stretchable face skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hyperelastic face skin" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Stretchable face skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024883 is_a: HP:0007458 ! Focal hyperextensible skin @@ -51999,10 +52126,10 @@ is_a: HP:0001000 ! Abnormality of skin pigmentation id: HP:0007428 name: Telangiectasia of the oral mucosa def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa." [HPO:probinson] -synonym: "Angioectasia of the oral mucosa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Angioectasia of the oral mucous membrane" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Spider veins of the oral mucosa" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Telangiectasia of the oral mucous membrane" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Angioectasia of the oral mucosa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Angioectasia of the oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Spider veins of the oral mucosa" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Telangiectasia of the oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4024882 is_a: HP:0000228 ! Oral cavity telangiectasia @@ -52106,7 +52233,7 @@ alt_id: HP:0001044 def: "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs." [HPO:probinson] synonym: "Congenital partial albinism on face, trunk, or limbs" EXACT [] synonym: "Congenital partial leucoderma" EXACT [] -synonym: "Partial absent skin pigmentation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial absent skin pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D016116 xref: SNOMEDCT_US:6479008 xref: SNOMEDCT_US:718122005 @@ -52199,7 +52326,7 @@ is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007459 name: Generalized anhidrosis -synonym: "Generalized inability to sweat" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Generalized inability to sweat" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024869 is_a: HP:0025276 ! Abnormality of skin adnexa physiology @@ -52313,7 +52440,7 @@ name: Abnormal dermatoglyphics alt_id: HP:0007422 def: "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:probinson] subset: hposlim_core -synonym: "Abnormal fingerprints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal fingerprints" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Dermatoglyphic abnormalities" EXACT [] xref: SNOMEDCT_US:83145004 xref: UMLS:C0432333 @@ -52370,7 +52497,7 @@ is_a: HP:0001000 ! Abnormality of skin pigmentation id: HP:0007485 name: Absence of subcutaneous fat def: "Lack of subcutaneous adipose tissue." [HPO:probinson] -synonym: "Absent fat below the skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent fat below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "General absence of subcutaneous fat" EXACT [] xref: UMLS:C0241267 is_a: HP:0008887 ! Adipose tissue loss @@ -52430,7 +52557,7 @@ is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007499 name: Recurrent staphylococcal infections -def: "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections." [orcid.org/0000-0001-7941-2961] +def: "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections." [ORCID:0000-0001-7941-2961] synonym: "Recurrent staphylococcal infections" EXACT layperson [] xref: UMLS:C4024862 is_a: HP:0002718 ! Recurrent bacterial infections @@ -52486,7 +52613,7 @@ is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007506 name: Congenital absence of skin of limbs -synonym: "Missing skin on limbs since birth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Missing skin on limbs since birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024858 is_a: HP:0007383 ! Congenital localized absence of skin @@ -52550,7 +52677,7 @@ is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin id: HP:0007516 name: Redundant skin on fingers def: "Loose and sagging skin of the fingers." [HPO:probinson] -synonym: "Extra skin on fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra skin on fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024856 is_a: HP:0001582 ! Redundant skin @@ -52572,7 +52699,7 @@ is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007519 name: Lack of subcutaneous fatty tissue -synonym: "Lack of fatty tissue below the skin" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Lack of fatty tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024855 is_a: HP:0008887 ! Adipose tissue loss @@ -52646,7 +52773,7 @@ is_a: HP:0004471 ! Aplasia cutis congenita over the scalp vertex id: HP:0007537 name: Severe photosensitivity def: "A severe degree of photosensitivity of the skin." [HPO:curators] -synonym: "Severe sun sensitivity" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Severe sun sensitivity" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849186 is_a: HP:0000992 ! Cutaneous photosensitivity @@ -52668,7 +52795,7 @@ is_a: HP:0040007 ! Absent pigmentation of chest [Term] id: HP:0007543 name: Epidermal hyperkeratosis -synonym: "Increased thickness of skin epidermis" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased thickness of skin epidermis" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848773 is_a: HP:0000962 ! Hyperkeratosis @@ -52709,14 +52836,14 @@ is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007550 name: Hypohidrosis or hyperhidrosis -synonym: "Lack of sweating or excessive sweating" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Lack of sweating or excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021831 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0007552 name: Abnormal subcutaneous fat tissue distribution -synonym: "Abnormal fat tissue distribution below the skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal fat tissue distribution below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859347 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue @@ -52782,7 +52909,7 @@ is_a: HP:0005882 ! Dermatoglyphic variants id: HP:0007569 name: Generalized seborrheic dermatitis def: "Seborrheic dermatitis that is not localized to any one particular region." [] -synonym: "Generalized seborrheic eczema" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Generalized seborrheic eczema" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024844 is_a: HP:0001051 ! Seborrheic dermatitis @@ -52805,7 +52932,8 @@ is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007573 name: Late onset atopic dermatitis -synonym: "Late onset baby eczema" RELATED layperson [orcid.org/0000-0001-6908-9849] +def: "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis." [PMID:23984225, PMID:27904186] +synonym: "Late onset baby eczema" RELATED layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024843 xref: UMLS:C4280439 is_a: HP:0001047 ! Atopic dermatitis @@ -52813,7 +52941,7 @@ is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007574 name: Generalized bronze hyperpigmentation -synonym: "Bronze skin" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bronze skin" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2939074 xref: UMLS:C4024842 is_a: HP:0007440 ! Generalized hyperpigmentation @@ -52892,7 +53020,7 @@ is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands [Term] id: HP:0007595 name: Redundant skin in infancy -synonym: "Excess skin in infancy" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Excess skin in infancy" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1835587 is_a: HP:0001582 ! Redundant skin @@ -52900,6 +53028,7 @@ is_a: HP:0001582 ! Redundant skin id: HP:0007596 name: Painful subcutaneous lipomas def: "The presence of multiple subcutaneous lipoma that cause pain." [HPO:probinson] +synonym: "Painful noncancerous fat tissue tumor under the skin" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C4024838 is_a: HP:0001031 ! Subcutaneous lipoma @@ -52995,10 +53124,10 @@ id: HP:0007616 name: Nevus flammeus nuchae def: "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." [HPO:sdoelken] comment: The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area. -synonym: "Angel's kiss" RELATED layperson [orcid.org/0000-0001-6908-9849] -synonym: "Port-wine stain on neck" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Salmon patch" RELATED layperson [orcid.org/0000-0001-6908-9849] -synonym: "Stork bite" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Angel's kiss" RELATED layperson [ORCID:0000-0001-6908-9849] +synonym: "Port-wine stain on neck" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Salmon patch" RELATED layperson [ORCID:0000-0001-6908-9849] +synonym: "Stork bite" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C0860468 xref: UMLS:C4024829 xref: UMLS:C4280438 @@ -53042,7 +53171,7 @@ is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0007623 name: Pigmentation anomalies of sun-exposed skin -synonym: "Abnormal pigmentation in sun-exposed skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal pigmentation in sun-exposed skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024826 is_a: HP:0001000 ! Abnormality of skin pigmentation @@ -53061,18 +53190,18 @@ is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0007627 name: Mandibular condyle aplasia -synonym: "Absence of the condylar head of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Absence of the condylar neck of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Absence of the condylar process of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of condylar head of mandible" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of condylar neck of mandible" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of condylar process of mandible" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of condylar head of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of condylar neck of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of the condylar process of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of condylar head of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of condylar neck of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of condylar process of mandible" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Absence of the condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Absence of the condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Absence of the condylar process of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of condylar head of mandible" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of condylar neck of mandible" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of condylar process of mandible" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of the condylar process of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235119009 xref: UMLS:C0399570 xref: UMLS:C4280429 @@ -53089,18 +53218,18 @@ is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007628 name: Mandibular condyle hypoplasia -synonym: "Decreased size of condylar process of mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of mandibular condyle" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of condylar head of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of condylar neck of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of condylar process of mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of mandibular condyle" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of subcondylar region of mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic condylar process of mandible" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic mandibular condyle" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small condylar head of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Small condylar neck of mandible" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Small mandibular condyle" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of mandibular condyle" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of mandibular condyle" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of subcondylar region of mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic condylar process of mandible" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic mandibular condyle" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Small condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Small mandibular condyle" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235120003 xref: UMLS:C0399572 xref: UMLS:C4280423 @@ -53117,10 +53246,10 @@ name: Bilateral microphthalmos alt_id: HP:0001143 alt_id: HP:0001585 def: "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] -synonym: "Abnormally small eyeball on both sides" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Bilateral nanophthalmos" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of eyeballs" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of globes of eyes" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally small eyeball on both sides" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Bilateral nanophthalmos" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of eyeballs" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of globes of eyes" BROAD [ORCID:0000-0001-5889-4463] synonym: "Microphthalmia, bilateral" EXACT [] xref: UMLS:C1843496 xref: UMLS:C4280421 @@ -53139,7 +53268,7 @@ is_a: HP:0001138 ! Optic neuropathy id: HP:0007641 name: Dyschromatopsia def: "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments." [DDD:ncarter] -synonym: "Color blindness" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: UMLS:C0858618 is_a: HP:0000551 ! Abnormality of color vision @@ -53152,7 +53281,7 @@ alt_id: HP:0007953 def: "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset." [HPO:probinson] comment: Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors. synonym: "Congenital night blindness" EXACT [] -synonym: "Night blindness since birth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Night blindness since birth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Night blindness, congenital" RELATED [HPO:skoehler] synonym: "Night blindness, congenital stationary" RELATED [HPO:skoehler] synonym: "Night blindness, congenital stationary, complete" RELATED [HPO:skoehler] @@ -53183,10 +53312,10 @@ id: HP:0007646 name: Absent lower eyelashes def: "Lack of eyelashes on the lower lid." [HPO:probinson] synonym: "Absent lower eyelashes" EXACT layperson [] -synonym: "Agenesis of lower eyelashes" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of lower eyelashes" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of lower eyelashes" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of lower eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Atrichia of lower eyelashes" EXACT [] -synonym: "Failure of development of lower eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024824 is_a: HP:0000561 ! Absent eyelashes @@ -53226,8 +53355,8 @@ is_a: HP:0000602 ! Ophthalmoplegia id: HP:0007651 name: Ectropion of lower eyelids synonym: "Everted lower eyelids" RELATED [] -synonym: "Lower eyelid folded out" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Lower eyelid turned out" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lower eyelid folded out" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Lower eyelid turned out" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:95758006 xref: UMLS:C0521736 xref: UMLS:C4020808 @@ -53248,7 +53377,7 @@ is_a: HP:0000656 ! Ectropion id: HP:0007656 name: Lacrimal gland aplasia def: "A congenital defect of development characterized by absence of the lacrimal gland." [HPO:probinson] -synonym: "Absent tear gland" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent tear gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024822 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands @@ -53269,6 +53398,7 @@ is_a: HP:0011512 ! Hyperpigmentation of the fundus id: HP:0007659 name: obsolete Decreased retinal pigmentation with dispersion is_obsolete: true +consider: HP:0007703 [Term] id: HP:0007661 @@ -53305,7 +53435,7 @@ is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0007667 name: Peripheral cystoid retinal degeneration -def: "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly." [UManchester:psergouniotis] +def: "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly." [ORCID:0000-0003-0986-4123] synonym: "Cystic retinal degeneration" EXACT [] synonym: "Peripheral cystoid degeneration" EXACT [] xref: UMLS:C1839362 @@ -53342,7 +53472,7 @@ def: "Congenital underdevelopment of the iris." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic iris" EXACT [] synonym: "Iris hypoplasia" EXACT [] -synonym: "Underdeveloped iris" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95714006 xref: UMLS:C0344539 is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris @@ -53365,7 +53495,7 @@ id: HP:0007678 name: Lacrimal duct stenosis alt_id: HP:0007669 def: "Narrowing of a tear duct (lacrimal duct)." [HPO:probinson] -synonym: "Narrowing of the tear duct" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of the tear duct" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Nasolacrimal duct stenosis" EXACT [] xref: SNOMEDCT_US:231841004 xref: UMLS:C0238300 @@ -53397,7 +53527,7 @@ is_a: HP:0012373 ! Abnormal eye physiology id: HP:0007687 name: Unilateral ptosis def: "A unilateral form of ptosis." [HPO:probinson] -synonym: "Dropping of one upper eyelid" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dropping of one upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866806 is_a: HP:0000508 ! Ptosis @@ -53441,11 +53571,11 @@ is_a: HP:0007686 ! Abnormal pupillary function id: HP:0007697 name: Hypoplasia of the lower eyelids def: "Underdevelopment of the lower eyelid." [HPO:probinson] -synonym: "Decreased size of lower eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic lower eyelid" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Short lower eyelid" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small lower eyelid" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of lower eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic lower eyelid" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Short lower eyelid" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Small lower eyelid" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024814 xref: UMLS:C4280270 xref: UMLS:C4280420 @@ -53509,7 +53639,7 @@ id: HP:0007705 name: Corneal degeneration xref: SNOMEDCT_US:111521006 xref: UMLS:C0155118 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0007707 @@ -53544,6 +53674,7 @@ is_a: HP:0004327 ! Abnormal vitreous humor morphology id: HP:0007712 name: obsolete Choroidal dystrophy is_obsolete: true +consider: HP:0001135 [Term] id: HP:0007713 @@ -53640,7 +53771,7 @@ id: HP:0007732 name: Lacrimal gland hypoplasia def: "Underdevelopment of the lacrimal gland." [HPO:probinson] synonym: "Hypoplastic lacrimal gland" EXACT [] -synonym: "Underdeveloped tear gland" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped tear gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863200 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands @@ -53654,7 +53785,7 @@ is_a: HP:0000534 ! Abnormal eyebrow morphology id: HP:0007734 name: Enlarged lacrimal glands def: "Abnormally big lacrimal glands." [HPO:probinson] -synonym: "Enlarged tear gland" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged tear gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867030 is_a: HP:0011482 ! Abnormal lacrimal gland morphology @@ -53761,7 +53892,7 @@ is_obsolete: true [Term] id: HP:0007758 name: Congenital visual impairment -synonym: "Visual impairment since birth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Visual impairment since birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024804 is_a: HP:0000505 ! Visual impairment @@ -53851,7 +53982,7 @@ is_a: HP:0000546 ! Retinal degeneration id: HP:0007770 name: Hypoplasia of the retina synonym: "Retinal hypoplasia" EXACT [] -synonym: "Underdeveloped retina" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1854685 is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina @@ -53862,8 +53993,8 @@ alt_id: HP:0008029 def: "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [HPO:probinson] subset: hposlim_core synonym: "Abnormal visual pursuit" RELATED [] -synonym: "Abnormality of visual tracking" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Impairment of visual pursuit" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of visual tracking" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Impairment of visual pursuit" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: UMLS:C1837458 xref: UMLS:C1848530 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit @@ -53887,11 +54018,11 @@ is_a: HP:0012776 ! Abnormality of the ciliary body id: HP:0007776 name: Sparse lower eyelashes alt_id: HP:0007785 -synonym: "Hypotrichosis of lower eyelashes" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrichosis of lower eyelashes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Partial absence of lower eyelashes" EXACT [] synonym: "Scanty lower eyelashes" EXACT layperson [] synonym: "Sparse lower eyelashes" EXACT layperson [] -synonym: "Thin lower eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1835148 is_a: HP:0000653 ! Sparse eyelashes is_a: HP:0040052 ! Abnormality of lower eyelashes @@ -54010,7 +54141,7 @@ name: Increased axial length of the globe def: "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean." [DDD:ncarter] synonym: "Globe elongated" EXACT [] synonym: "Increased axial globe length" EXACT [] -synonym: "Increased front to back length of eyeball" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased front to back length of eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1835117 is_a: HP:0001090 ! Abnormally large globe @@ -54183,9 +54314,9 @@ is_a: HP:0011494 ! Generalized opacification of the cornea [Term] id: HP:0007829 -name: Diffuse retinal cone degeneration -xref: UMLS:C4024791 -is_a: HP:0000546 ! Retinal degeneration +name: obsolete Diffuse retinal cone degeneration +is_obsolete: true +consider: HP:0000546 [Term] id: HP:0007830 @@ -54206,7 +54337,7 @@ is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007832 name: Pigmentation of the sclera -synonym: "Pigmentation of the outer white part of the eyeball" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Pigmentation of the outer white part of the eyeball" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859882 is_a: HP:0000591 ! Abnormal sclera morphology @@ -54228,8 +54359,8 @@ is_a: HP:0000518 ! Cataract [Term] id: HP:0007835 name: S-shaped palpebral fissures -synonym: "S-shaped eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "S-shaped opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "S-shaped eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "S-shaped opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024787 is_a: HP:0200005 ! Abnormal shape of the palpebral fissure @@ -54243,7 +54374,7 @@ is_a: HP:0001131 ! Corneal dystrophy id: HP:0007838 name: Progressive ptosis def: "A progressive form of ptosis." [HPO:probinson] -synonym: "Progressive drooping of upper eyelid" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Progressive drooping of upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834015 is_a: HP:0000508 ! Ptosis @@ -54252,7 +54383,7 @@ id: HP:0007840 name: Long upper eyelashes def: "Increased length of the upper eyelashes." [HPO:probinson] synonym: "Ciliary trichomegaly of upper eyelashes" EXACT [] -synonym: "Increased length of upper eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased length of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long upper eyelashes" EXACT layperson [] xref: UMLS:C4024785 is_a: HP:0000527 ! Long eyelashes @@ -54388,8 +54519,8 @@ name: Almond-shaped palpebral fissure def: "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point." [pmid:19125427] comment: The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow. subset: hposlim_core -synonym: "Almond shaped eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Almond-shaped opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Almond shaped eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Almond-shaped opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024780 is_a: HP:0200005 ! Abnormal shape of the palpebral fissure @@ -54398,7 +54529,7 @@ id: HP:0007875 name: Congenital blindness alt_id: HP:0007706 def: "Blindness with onset at birth." [HPO:probinson] -synonym: "Blindness present at birth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Blindness present at birth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Congenital amaurosis" EXACT [] xref: SNOMEDCT_US:95486002 xref: UMLS:C0005754 @@ -54446,7 +54577,7 @@ id: HP:0007886 name: Absent extraocular muscles def: "Congenital absence of the extraocular muscles." [HPO:probinson] synonym: "Absent ocular muscles" RELATED [] -synonym: "Missing eye muscles" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Missing eye muscles" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1408781 xref: UMLS:C4024777 is_a: HP:0008049 ! Abnormality of the extraocular muscles @@ -54463,7 +54594,7 @@ is_a: HP:0007787 ! Posterior subcapsular cataract id: HP:0007892 name: Hypoplasia of the lacrimal punctum def: "Underdevelopment of the lacrimal puncta." [HPO:probinson] -comment: Hypoplasia of the lacrimal puncta {has_synonym_type="HP:0045078"} +synonym: "Hypoplasia of the lacrimal puncta" EXACT HP:0045078 [] synonym: "Hypoplastic lacrimal puncta" EXACT HP:0045078 [] xref: UMLS:C4021564 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology @@ -54483,7 +54614,7 @@ alt_id: HP:0001111 alt_id: HP:0001487 alt_id: HP:0007746 alt_id: HP:0007752 -def: "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." [UManchester:psergouniotis] +def: "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." [ORCID:0000-0003-0986-4123] synonym: "Decreased fundus pigmentation" EXACT [] synonym: "Fundus hypopigmentation" EXACT [] xref: SNOMEDCT_US:95694000 @@ -54511,7 +54642,7 @@ is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007900 name: Hypoplastic lacrimal duct -synonym: "Underdeveloped tear duct" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped tear duct" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1968574 is_a: HP:0011481 ! Abnormal lacrimal duct morphology @@ -54544,7 +54675,7 @@ is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007905 name: Abnormal iris vasculature -synonym: "Abnormality of iris blood vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of iris blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3275963 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0008047 ! Abnormality of the vasculature of the eye @@ -54552,7 +54683,13 @@ is_a: HP:0008047 ! Abnormality of the vasculature of the eye [Term] id: HP:0007906 name: Increased intraocular pressure +def: "An increase in the intraocular pressure which is determined by the balance of aqueous humour inflow and outflow, and that is 2 standard deviations above the population mean." [] +synonym: "Elevated intraocular pressure" EXACT [] +synonym: "Elevated IOP" EXACT HP:0045077 [] synonym: "High eye pressure" EXACT layperson [] +synonym: "Increased IOP" EXACT HP:0045077 [] +synonym: "Raised intraocular pressure" EXACT [] +synonym: "Raised IOP" EXACT HP:0045077 [] xref: SNOMEDCT_US:112222000 xref: UMLS:C0234708 is_a: HP:0000501 ! Glaucoma @@ -54568,7 +54705,7 @@ id: HP:0007911 name: Congenital bilateral ptosis alt_id: HP:0007719 alt_id: HP:0007955 -synonym: "Congenital drooping of both upper eyelids" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Congenital drooping of both upper eyelids" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ptosis, bilateral congenital" EXACT [] synonym: "Ptosis, congenital bilateral" EXACT [] xref: UMLS:C1836264 @@ -54609,6 +54746,7 @@ is_a: HP:0000541 ! Retinal detachment id: HP:0007920 name: obsolete Congenital chorioretinal dystrophy is_obsolete: true +replaced_by: HP:0001135 [Term] id: HP:0007922 @@ -54629,7 +54767,7 @@ id: HP:0007924 name: Slow decrease in visual acuity alt_id: HP:0007652 synonym: "Decreased visual acuity, slowly progressive" RELATED [HPO:skoehler] -synonym: "Slow decrease in sharpness of vision" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Slow decrease in sharpness of vision" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Subacute deterioration of visual acuity" EXACT [] xref: UMLS:C1853141 xref: UMLS:C3278981 @@ -54639,7 +54777,7 @@ is_a: HP:0000529 ! Progressive visual loss id: HP:0007925 name: Lacrimal duct aplasia def: "A congenital defect resulting in absence of the lacrimal duct." [HPO:probinson] -synonym: "Absent tear duct" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent tear duct" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024773 is_a: HP:0011481 ! Abnormal lacrimal duct morphology @@ -54674,7 +54812,7 @@ is_a: HP:0011499 ! Mydriasis id: HP:0007933 name: Broad lateral eyebrow def: "Regional increase in the width (height) of the lateral eyebrow." [HPO:probinson] -synonym: "Wide lateral eyebrow" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Wide lateral eyebrow" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1837733 is_a: HP:0011229 ! Broad eyebrow @@ -54753,13 +54891,14 @@ is_a: HP:0001152 ! Saccadic smooth pursuit id: HP:0007945 name: obsolete Choroidal degeneration is_obsolete: true +consider: HP:0200065 [Term] id: HP:0007946 name: Unilateral narrow palpebral fissure def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only." [HPO:probinson] synonym: "Narrow palpebral fissure, unilateral" EXACT [] -synonym: "Unequal size of opening between the eyelids" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Unequal size of opening between the eyelids" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866805 xref: UMLS:C4280419 is_a: HP:0000581 ! Blepharophimosis @@ -54767,7 +54906,7 @@ is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0007947 name: Pericentral retinitis pigmentosa -def: "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery." [PMID:28981474, UManchester:psergouniotis] +def: "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery." [ORCID:0000-0003-0986-4123, PMID:28981474] xref: MSH:C564838 xref: UMLS:C1849398 is_a: HP:0000510 ! Rod-cone dystrophy @@ -54795,6 +54934,7 @@ is_a: HP:0000533 ! Chorioretinal atrophy id: HP:0007956 name: obsolete Bilateral choroid coloboma is_obsolete: true +replaced_by: HP:0000567 [Term] id: HP:0007957 @@ -54813,7 +54953,7 @@ xref: SNOMEDCT_US:64634000 xref: SNOMEDCT_US:95735008 xref: UMLS:C0010038 xref: UMLS:C0521719 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0007958 @@ -54837,7 +54977,7 @@ is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007963 name: Pattern dystrophy of the retina -def: "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)." [UManchester:psergouniotis] +def: "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)." [ORCID:0000-0003-0986-4123] xref: UMLS:C4024762 is_a: HP:0000556 ! Retinal dystrophy @@ -54862,7 +55002,7 @@ name: Remnants of the hyaloid vascular system def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." [HPO:probinson] subset: hposlim_core synonym: "Congenital retinal septum" EXACT [] -synonym: "Persistent fetal vasculature" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Persistent fetal vasculature" EXACT [ORCID:0000-0001-6908-9849] synonym: "Persistent hyperplasia of primary vitreous" EXACT [] synonym: "Persistent hyperplastic primary vitreous" EXACT [] synonym: "Persistent hypertrophic primary vitreous" EXACT [] @@ -54878,7 +55018,7 @@ is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007970 name: Congenital ptosis -synonym: "Congenital drooping upper eyelid" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Congenital drooping upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:268163008 xref: SNOMEDCT_US:61989004 xref: UMLS:C0266573 @@ -54946,6 +55086,7 @@ is_a: HP:0007894 ! Hypopigmentation of the fundus id: HP:0007981 name: obsolete Concentric narrowing of visual field is_obsolete: true +replaced_by: HP:0001133 [Term] id: HP:0007982 @@ -54969,7 +55110,7 @@ is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretino id: HP:0007985 name: Retinal arteriolar occlusion def: "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina." [HPO:probinson] -synonym: "Blocked retinal artery" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Blocked retinal artery" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024761 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0100545 ! Arterial stenosis @@ -55008,7 +55149,7 @@ alt_id: HP:0008027 def: "Underdevelopment of the stroma of iris." [HPO:probinson] synonym: "Hypoplastic iris stoma" EXACT [] synonym: "Iris stromal hypoplasia" EXACT [] -synonym: "Underdeveloped iris stroma" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped iris stroma" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1860344 is_a: HP:0007676 ! Hypoplasia of the iris @@ -55022,7 +55163,7 @@ is_a: HP:0007769 ! Peripheral retinal degeneration [Term] id: HP:0007993 name: Malformed lacrimal ducts -synonym: "Malformed tear ducts" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Malformed tear ducts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024757 is_a: HP:0011481 ! Abnormal lacrimal duct morphology @@ -55030,8 +55171,8 @@ is_a: HP:0011481 ! Abnormal lacrimal duct morphology id: HP:0007994 name: Peripheral visual field loss def: "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." [HPO:probinson] -synonym: "Kalnienk vision" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Loss of peripheral vision" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Kalnienk vision" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Loss of peripheral vision" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Tunnel vision" RELATED layperson [] xref: SNOMEDCT_US:420990001 xref: UMLS:C0241688 @@ -55047,7 +55188,7 @@ synonym: "Reduced corneal reflex" EXACT [] xref: MSH:D012021 xref: SNOMEDCT_US:103254005 xref: UMLS:C0151572 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0008001 @@ -55096,7 +55237,7 @@ is_obsolete: true id: HP:0008009 name: Three rows of eyelashes synonym: "Three rows of eyelashes" EXACT layperson [] -synonym: "Triple row of eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Triple row of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860785 is_a: HP:0008496 ! Multiple rows of eyelashes @@ -55113,7 +55254,7 @@ is_a: HP:0007759 ! Opacification of the corneal stroma id: HP:0008012 name: Congenital myopia def: "Myopia apparent at birth." [DDD:ncarter] -synonym: "Nearsightedness since birth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Nearsightedness since birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1854684 is_a: HP:0000545 ! Myopia @@ -55134,7 +55275,7 @@ is_obsolete: true id: HP:0008019 name: Superior lens subluxation def: "Partial dislocation of the lens in a superior direction." [HPO:probinson, pmid:5087595] -synonym: "Superior subluxated lens" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Superior subluxated lens" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C2036843 is_a: HP:0001132 ! Lens subluxation @@ -55176,7 +55317,7 @@ is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0008030 name: Retinal arteritis -synonym: "Retinal vaculitis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Retinal vaculitis" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:11255009 xref: UMLS:C0271069 is_a: HP:0000630 ! Abnormal retinal artery morphology @@ -55211,7 +55352,7 @@ is_a: HP:0000525 ! Abnormality iris morphology id: HP:0008035 name: Retinitis pigmentosa inversa alt_id: HP:0008506 -def: "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)." [pmid:9734800] {comment="UManchester:psergouniotis"} +def: "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)." [ORCID:0000-0003-0986-4123, PMID:9734800] synonym: "Central retinitis pigmentosa" EXACT [] xref: UMLS:C4021559 is_a: HP:0000546 ! Retinal degeneration @@ -55234,8 +55375,8 @@ is_a: HP:0000593 ! Abnormal anterior chamber morphology id: HP:0008038 name: Aplastic/hypoplastic lacrimal glands def: "Absence or underdevelopment of the lacrimal gland." [HPO:probinson] -synonym: "Absent/underdeveloped lacrimal glands" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped tear glands" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/underdeveloped lacrimal glands" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped tear glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1835602 is_a: HP:0011482 ! Abnormal lacrimal gland morphology @@ -55275,7 +55416,7 @@ is_a: HP:0030462 ! Abnormal amplitude of flash visual evoked potentials id: HP:0008046 name: Abnormality of the retinal vasculature def: "An arterial or venous retinal vascular anomaly." [HPO:probinson] -synonym: "Abnormality of retina blood vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of retina blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024753 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0008047 ! Abnormality of the vasculature of the eye @@ -55285,7 +55426,7 @@ creation_date: 2008-04-02T12:09:00Z [Term] id: HP:0008047 name: Abnormality of the vasculature of the eye -synonym: "Abnormality of eye blood vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of eye blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024752 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012374 ! Abnormal globe morphology @@ -55298,7 +55439,7 @@ name: Abnormality of the line of Schwalbe def: "An abnormality of the line of Schwalbe." [HPO:probinson] comment: Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer. xref: UMLS:C4021856 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2008-04-02T12:12:00Z @@ -55317,10 +55458,10 @@ creation_date: 2008-04-02T12:14:00Z id: HP:0008050 name: Abnormality of the palpebral fissures def: "An anomaly of the space between the medial and lateral canthi of the two open eyelids." [HPO:probinson] -synonym: "Abnormality of the opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the palpebral fissures" EXACT layperson [] -synonym: "Deformity of the palpebral fissures" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the palpebral fissures" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Deformity of the palpebral fissures" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the palpebral fissures" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4024750 is_a: HP:0000492 ! Abnormal eyelid morphology created_by: peter @@ -55331,8 +55472,6 @@ id: HP:0008051 name: obsolete Abnormality of the retinal pigment epithelium is_obsolete: true replaced_by: HP:0007703 -created_by: peter -creation_date: 2008-04-02T01:32:00Z [Term] id: HP:0008052 @@ -55349,8 +55488,8 @@ creation_date: 2008-04-02T01:37:00Z id: HP:0008053 name: Aplasia/Hypoplasia of the iris def: "Absence or underdevelopment of the iris." [HPO:probinson] -synonym: "Absent/small iris" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped iris" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small iris" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024748 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea @@ -55373,7 +55512,7 @@ creation_date: 2008-04-02T03:04:00Z id: HP:0008055 name: Aplasia/Hypoplasia affecting the uvea def: "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid." [HPO:probinson] -synonym: "Absent/underdeveloped uvea" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent/underdeveloped uvea" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024746 is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye @@ -55383,8 +55522,8 @@ creation_date: 2008-04-02T03:24:00Z [Term] id: HP:0008056 name: Aplasia/Hypoplasia affecting the eye -synonym: "Absent/small eye" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped eye" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small eye" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped eye" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024745 is_a: HP:0012374 ! Abnormal globe morphology created_by: peter @@ -55393,7 +55532,7 @@ creation_date: 2008-04-02T03:25:00Z [Term] id: HP:0008057 name: Aplasia/Hypoplasia affecting the fundus -synonym: "Absent/small fundus" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, orcid.org/0000-0001-5208-3432] +synonym: "Absent/small fundus" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432] xref: UMLS:C4024744 is_a: HP:0001098 ! Abnormal fundus morphology is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye @@ -55403,8 +55542,8 @@ creation_date: 2008-04-02T03:27:00Z [Term] id: HP:0008058 name: Aplasia/Hypoplasia of the optic nerve -synonym: "Absent/small optic nerve" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped optic nerve" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small optic nerve" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped optic nerve" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024743 is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus @@ -55414,7 +55553,7 @@ creation_date: 2008-04-02T03:28:00Z [Term] id: HP:0008059 name: Aplasia/Hypoplasia of the macula -synonym: "Absent/underdeveloped macula" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent/underdeveloped macula" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024742 is_a: HP:0001103 ! Abnormal macular morphology is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina @@ -55425,7 +55564,7 @@ creation_date: 2008-04-02T03:29:00Z id: HP:0008060 name: Aplasia/Hypoplasia of the fovea def: "Congenital absence or underdevelopment of the fovea centralis." [HPO:probinson] -synonym: "Absent/underdeveloped fovea" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/underdeveloped fovea" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024741 is_a: HP:0000493 ! Abnormal foveal morphology is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula @@ -55435,8 +55574,8 @@ creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008061 name: Aplasia/Hypoplasia of the retina -synonym: "Absent/small retina" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped retina" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small retina" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024740 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus @@ -55448,7 +55587,7 @@ id: HP:0008062 name: Aplasia/Hypoplasia affecting the anterior segment of the eye def: "Absence or underdevelopment of the anterior segment of the eye." [HPO:probinson] xref: UMLS:C4024739 -is_a: HP:0004328 ! Abnormality of the anterior segment of the globe +is_a: HP:0004328 ! Abnormal anterior segment morphology is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:33:00Z @@ -55457,8 +55596,8 @@ creation_date: 2008-04-02T03:33:00Z id: HP:0008063 name: Aplasia/Hypoplasia of the lens def: "Absence or underdevelopment of the lens." [HPO:probinson] -synonym: "Absent/small lens" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped lens" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small lens" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped lens" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024738 is_a: HP:0000517 ! Abnormality of the lens is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye @@ -55486,8 +55625,8 @@ creation_date: 2008-04-02T03:41:00Z [Term] id: HP:0008065 name: Aplasia/Hypoplasia of the skin -synonym: "Absent/small skin" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small skin" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024737 is_a: HP:0011355 ! Localized skin lesion created_by: peter @@ -55516,8 +55655,8 @@ creation_date: 2008-04-02T03:54:00Z [Term] id: HP:0008067 name: Abnormally lax or hyperextensible skin -synonym: "Abnormally loose or hyperelastic skin" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormally loose or stretchable skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally loose or hyperelastic skin" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormally loose or stretchable skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024736 is_a: HP:0010647 ! Abnormal elasticity of skin created_by: peter @@ -55616,7 +55755,7 @@ id: HP:0008079 name: Absent fifth metatarsal alt_id: HP:0010670 def: "A developmental abnormality characterized by the absence of the fifth metatarsal bone." [HPO:probinson] -synonym: "Absent 5th long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent 5th metatarsals" EXACT [] synonym: "Aplasia of the fifth metatarsal bone" EXACT [] xref: UMLS:C1867932 @@ -55652,7 +55791,7 @@ is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008083 name: 2nd-5th toe middle phalangeal hypoplasia -synonym: "Underdeveloped 2nd-5th middle toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped 2nd-5th middle toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861376 is_a: HP:0003795 ! Short middle phalanx of toe @@ -55667,7 +55806,7 @@ is_a: HP:0008371 ! Abnormal metatarsal ossification id: HP:0008089 name: Abnormality of the fifth metatarsal bone def: "An anomaly of the fifth metatarsal bone." [HPO:probinson] -synonym: "Abnormality of the 5th long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024733 is_a: HP:0001832 ! Abnormality of the metatarsal bones @@ -55730,7 +55869,7 @@ id: HP:0008103 name: Delayed tarsal ossification alt_id: HP:0008145 def: "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] -synonym: "Delayed ankle bone maturation" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Tarsal delayed ossification" EXACT [] xref: UMLS:C1846853 xref: UMLS:C4280418 @@ -55748,7 +55887,7 @@ id: HP:0008108 name: Advanced tarsal ossification alt_id: HP:0008137 def: "Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] -synonym: "Accelerated ankle bone maturation" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Accelerated ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Precociously ossified tarsal bones" EXACT [] xref: UMLS:C1849293 xref: UMLS:C4280417 @@ -55766,7 +55905,7 @@ is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008111 name: Broad distal hallux -synonym: "Broad distal big toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Broad distal big toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1863403 is_a: HP:0010055 ! Broad hallux @@ -55796,7 +55935,7 @@ id: HP:0008115 name: Clinodactyly of the 3rd toe def: "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "3rd toe clinodactyly" EXACT [] -synonym: "Curvature of 3rd toe" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of 3rd toe" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021555 xref: UMLS:C4280416 is_a: HP:0001863 ! Toe clinodactyly @@ -55818,7 +55957,7 @@ is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0008119 name: Deformed tarsal bones -synonym: "Deformed ankle bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Deformed ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856746 is_a: HP:0001850 ! Abnormality of the tarsal bones @@ -55887,7 +56026,7 @@ id: HP:0008134 name: Irregular tarsal ossification alt_id: HP:0008140 def: "Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] -synonym: "Irregular ankle bone maturation" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Irregular ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular tarsal centers" EXACT [] xref: UMLS:C4021554 xref: UMLS:C4280415 @@ -55915,7 +56054,7 @@ is_a: HP:0030311 ! Lower extremity joint dislocation id: HP:0008142 name: Delayed calcaneal ossification def: "Delayed maturation and calcification of the calcaneus." [HPO:probinson] -synonym: "Delayed heel bone maturation" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed heel bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024728 xref: UMLS:C4280414 is_a: HP:0008103 ! Delayed tarsal ossification @@ -55980,6 +56119,7 @@ is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0008160 name: 3-hydroxydicarboxylic aciduria +def: "An increase in the level of 3-hydroxydicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432] xref: UMLS:C4024725 is_a: HP:0003215 ! Dicarboxylic aciduria @@ -56103,7 +56243,7 @@ is_a: HP:0003563 ! Decreased circulating low-density lipoprotein levels [Term] id: HP:0008182 name: Adrenocortical hypoplasia -synonym: "Small adrenal cortex" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small adrenal cortex" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024719 is_a: HP:0000849 ! Adrenocortical abnormality @@ -56111,7 +56251,7 @@ is_a: HP:0000849 ! Adrenocortical abnormality id: HP:0008185 name: Precocious puberty in males def: "The onset of puberty before the age of 9 years in boys." [HPO:curators] -synonym: "Early onset of puberty in males" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Early onset of puberty in males" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Male precocious puberty" EXACT [] xref: UMLS:C1859979 is_a: HP:0000826 ! Precocious puberty @@ -56245,7 +56385,7 @@ id: HP:0008208 name: Parathyroid hyperplasia def: "Hyperplasia of the parathyroid gland." [HPO:probinson] comment: An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands. -synonym: "Enlarged parathyroid glands" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:9092004 xref: UMLS:C0271844 is_a: HP:0011766 ! Abnormality of the parathyroid morphology @@ -56258,7 +56398,7 @@ alt_id: HP:0100805 def: "Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea." [HPO:probinson] comment: The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years). synonym: "Climacterium praecox" EXACT [] -synonym: "Early menopause" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Early menopause" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypergonadotropic amenorrhea" EXACT [] synonym: "Menopause praecox" EXACT [] synonym: "Premature menopause" EXACT layperson [] @@ -56431,7 +56571,7 @@ is_a: HP:0012285 ! Abnormal hypothalamus physiology id: HP:0008239 name: Adrenal medullary hypoplasia def: "Developmental hypoplasia of the adrenal medulla." [HPO:probinson] -synonym: "Small adrenal medulla" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Small adrenal medulla" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024717 is_a: HP:0000835 ! Adrenal hypoplasia @@ -56490,7 +56630,7 @@ is_a: HP:0002926 ! Abnormality of thyroid physiology id: HP:0008249 name: Thyroid hyperplasia def: "Hyperplasia of the thyroid gland." [HPO:probinson] -synonym: "Large thyroid" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Large thyroid" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1112776 is_a: HP:0011772 ! Abnormality of thyroid morphology @@ -56628,7 +56768,7 @@ id: HP:0008278 name: Cerebellar cortical atrophy def: "Atrophy (wasting) of the cerebellar cortex." [HPO:probinson] comment: Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells. -synonym: "Cerebellar cortex degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Cerebellar cortex degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024710 is_a: HP:0001272 ! Cerebellar atrophy @@ -56659,7 +56799,7 @@ is_a: HP:0002904 ! Hyperbilirubinemia id: HP:0008283 name: Fasting hyperinsulinemia def: "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake." [HPO:probinson] -synonym: "High blood insulin levels while fasting" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood insulin levels while fasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1864954 is_a: HP:0000842 ! Hyperinsulinemia @@ -56699,6 +56839,7 @@ is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0008293 name: Long-chain dicarboxylic aciduria +def: "An increase in the level of long-chain dicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432] xref: UMLS:C1837273 is_a: HP:0003215 ! Dicarboxylic aciduria @@ -56744,6 +56885,7 @@ is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008309 name: Medium chain dicarboxylic aciduria +def: "An increase in the level of medium chain dicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432] xref: UMLS:C1860081 is_a: HP:0003215 ! Dicarboxylic aciduria @@ -56798,7 +56940,7 @@ is_a: HP:0003540 ! Impaired platelet aggregation id: HP:0008321 name: Reduced factor X activity def: "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)." [HPO:probinson] -synonym: "Decreased factor x activity" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Decreased factor x activity" EXACT [ORCID:0000-0001-6908-9849] synonym: "Factor X deficiency" RELATED [] xref: MSH:D005171 xref: SNOMEDCT_US:76642003 @@ -56827,7 +56969,7 @@ is_a: HP:0030466 ! Abnormal full-field electroretinogram [Term] id: HP:0008326 name: Vitamin B6 deficiency -synonym: "Reduced vitamin b6 levels" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Reduced vitamin b6 levels" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Vitamin B6 deficiency" EXACT layperson [] xref: MSH:D026681 xref: SNOMEDCT_US:386080007 @@ -56848,18 +56990,18 @@ id: HP:0008330 name: Reduced von Willebrand factor activity def: "Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [HPO:probinson, pmid:19694940] comment: Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA). -synonym: "Decreased von willebrand factor activity" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Decreased von willebrand factor activity" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024701 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0008331 name: Elevated creatine kinase after exercise -synonym: "Elevated creatine phosphokinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, orcid.org/0000-0001-6908-9849] -synonym: "Elevated phospho-creatine kinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, orcid.org/0000-0001-6908-9849] -synonym: "Increased creatine kinase after exercise" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Increased creatine phosphokinase after exercise" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Increased phospho-creatine kinase after exercise" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Elevated creatine phosphokinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, ORCID:0000-0001-6908-9849] +synonym: "Elevated phospho-creatine kinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, ORCID:0000-0001-6908-9849] +synonym: "Increased creatine kinase after exercise" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Increased creatine phosphokinase after exercise" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Increased phospho-creatine kinase after exercise" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024700 is_a: HP:0003236 ! Elevated serum creatine phosphokinase @@ -56883,8 +57025,8 @@ is_a: HP:0003355 ! Aminoaciduria id: HP:0008338 name: Partial functional complement factor D deficiency def: "A partial reduction in level of the complement component Factor D in circulation." [] -synonym: "Partial functional adipsin deficiency" EXACT [https://en.wikipedia.org/wiki/Factor_D, orcid.org/0000-0001-6908-9849] -synonym: "Partial functional factor d deficiency" EXACT [https://en.wikipedia.org/wiki/factor_d, orcid.org/0000-0001-6908-9849] +synonym: "Partial functional adipsin deficiency" EXACT [https://en.wikipedia.org/wiki/Factor_D, ORCID:0000-0001-6908-9849] +synonym: "Partial functional factor d deficiency" EXACT [https://en.wikipedia.org/wiki/factor_d, ORCID:0000-0001-6908-9849] xref: UMLS:C4024699 is_a: HP:0004431 ! Complement deficiency @@ -56916,17 +57058,17 @@ is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism id: HP:0008345 name: Hypoplasia of the iris dilator muscle def: "Underdevelopment of the dilatator pupillae." [HPO:probinson] -synonym: "Hypoplasia of the pupil dilator muscle" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Underdeveloped iris dilator muscle" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Underdeveloped pupil dilator muscle" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Hypoplasia of the pupil dilator muscle" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Underdeveloped iris dilator muscle" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Underdeveloped pupil dilator muscle" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024696 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0008346 name: Increased red cell sickling tendency -synonym: "Increased sickling of erythrocytes" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Increased sickling of red cells" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Increased sickling of erythrocytes" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Increased sickling of red cells" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024695 is_a: HP:0011895 ! Anemia due to reduced life span of red cells @@ -56951,7 +57093,7 @@ is_a: HP:0004315 ! IgG deficiency id: HP:0008352 name: Impaired platelet adhesion def: "An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation." [HPO:probinson] -synonym: "Impaired thrombocytes adhesion" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Impaired thrombocytes adhesion" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024694 is_a: HP:0011869 ! Abnormal platelet function @@ -56972,6 +57114,7 @@ is_a: HP:0008321 ! Reduced factor X activity id: HP:0008356 name: obsolete Combined hyperlipidemia is_obsolete: true +consider: HP:0003077 [Term] id: HP:0008357 @@ -56984,7 +57127,7 @@ is_a: HP:0010990 ! Abnormality of the common coagulation pathway id: HP:0008358 name: Hyperprolinemia def: "An increased concentration of proline in the blood." [HPO:gcarletti] -synonym: "Prolinemia" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Prolinemia" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:59655002 xref: UMLS:C0268528 is_a: HP:0010907 ! Abnormality of proline metabolism @@ -57009,8 +57152,8 @@ alt_id: HP:0004694 alt_id: HP:0008118 alt_id: HP:0008126 def: "Absence or underdevelopment of the big toe." [HPO:curators] -synonym: "Absent/small big toe" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped big toe" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent/small big toe" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped big toe" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Aplastic/hypoplastic halluces" EXACT [] xref: UMLS:C1836213 is_a: HP:0001844 ! Abnormality of the hallux @@ -57023,8 +57166,8 @@ id: HP:0008363 name: Aplasia/Hypoplasia of the tarsal bones alt_id: HP:0008109 def: "Absence or underdevelopment of the tarsal bones." [HPO:curators] -synonym: "Absent/small ankle bone" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped ankle bone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent/small ankle bone" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped ankle bone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Aplastic/hypoplastic tarsals" EXACT [] xref: UMLS:C1848671 is_a: HP:0001850 ! Abnormality of the tarsal bones @@ -57036,7 +57179,7 @@ creation_date: 2008-04-04T11:35:00Z id: HP:0008364 name: Abnormality of the calcaneus def: "An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel." [HPO:probinson] -synonym: "Abnormal heel bone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal heel bone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024689 is_a: HP:0001850 ! Abnormality of the tarsal bones created_by: peter @@ -57046,7 +57189,7 @@ creation_date: 2008-04-04T11:38:00Z id: HP:0008365 name: Abnormality of the talus def: "An abnormality of the talus." [HPO:probinson] -synonym: "Abnormal large bone of ankle" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal large bone of ankle" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024688 is_a: HP:0001850 ! Abnormality of the tarsal bones created_by: peter @@ -57055,7 +57198,7 @@ creation_date: 2008-04-04T11:43:00Z [Term] id: HP:0008366 name: Contractures involving the joints of the feet -synonym: "Contractures of the foot joints" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Contractures of the foot joints" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:239742004 xref: UMLS:C0343149 is_a: HP:0001760 ! Abnormality of the foot @@ -57071,7 +57214,7 @@ alt_id: HP:0001957 alt_id: HP:0008092 alt_id: HP:0100330 def: "Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones)." [HPO:probinson] -synonym: "Fused ankle bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving tarsal bones" EXACT [] synonym: "Synostosis of tarsal bones" EXACT [] synonym: "Tarsal bone fusion" EXACT [] @@ -57091,9 +57234,9 @@ creation_date: 2008-04-04T11:52:00Z id: HP:0008369 name: Abnormal tarsal ossification def: "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] -synonym: "Abnormal maturation of ankle bones" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of ankle bones" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification of tarsal bones" EXACT [] -synonym: "Hardening of ankle bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Hardening of ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021544 xref: UMLS:C4025075 is_a: HP:0001850 ! Abnormality of the tarsal bones @@ -57105,7 +57248,7 @@ creation_date: 2008-04-04T11:53:00Z id: HP:0008371 name: Abnormal metatarsal ossification def: "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years." [HPO:probinson] -synonym: "Abnormal maturation of long bone of foot" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of long bone of foot" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification involving metatarsal bones" EXACT [] xref: UMLS:C4021543 is_a: HP:0001832 ! Abnormality of the metatarsal bones @@ -57134,7 +57277,7 @@ creation_date: 2008-04-04T12:35:00Z [Term] id: HP:0008376 name: Nasal, dysarthic speech -synonym: "Breathy speech" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Breathy speech" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1834664 is_a: HP:0001260 ! Dysarthria @@ -57153,8 +57296,8 @@ name: Aplasia/Hypoplasia of the nails alt_id: HP:0008385 def: "Aplasia or developmental hypoplasia of the nail." [HPO:probinson] synonym: "Absent/hypoplastic nails" EXACT [] -synonym: "Absent/small nails" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped nails" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent/small nails" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped nails" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Nail aplasia/hypoplasia" EXACT [] xref: UMLS:C1859077 is_a: HP:0001597 ! Abnormality of the nail @@ -57182,7 +57325,7 @@ is_a: HP:0001597 ! Abnormality of the nail id: HP:0008391 name: Dystrophic fingernails def: "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate." [HPO:probinson] -synonym: "Poor fingernail formation" EXACT layperson [http://naildystrophy.com/, http://orcid.org/0000-0001-5208-3432] +synonym: "Poor fingernail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432] xref: UMLS:C3551426 is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0008404 ! Nail dystrophy @@ -57191,7 +57334,7 @@ is_a: HP:0008404 ! Nail dystrophy id: HP:0008392 name: Subungual hyperkeratosis def: "A thickening of the stratum corneum in the region beneath the nails." [HPO:probinson] -synonym: "Thickened, discolored skin under nail" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Thickened, discolored skin under nail" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:10165000 xref: UMLS:C0038605 is_a: HP:0000962 ! Hyperkeratosis @@ -57206,7 +57349,7 @@ is_a: HP:0008388 ! Abnormal toenail morphology [Term] id: HP:0008394 name: Congenital onychodystrophy -synonym: "Congenital malformed nails" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Congenital malformed nails" BROAD layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1393669 xref: UMLS:C4280413 is_a: HP:0002164 ! Nail dysplasia @@ -57223,10 +57366,10 @@ id: HP:0008398 name: Hypoplastic fifth fingernail alt_id: HP:0200103 def: "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger." [HPO:probinson] -synonym: "Underdeveloped fifth fingernail" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Underdeveloped fingernail of little finger" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Underdeveloped fingernail of pinkie finger" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Underdeveloped fingernail of pinky finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped fifth fingernail" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Underdeveloped fingernail of little finger" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Underdeveloped fingernail of pinkie finger" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Underdeveloped fingernail of pinky finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024682 is_a: HP:0001804 ! Hypoplastic fingernail @@ -57234,7 +57377,7 @@ is_a: HP:0001804 ! Hypoplastic fingernail id: HP:0008399 name: Circumungual hyperkeratosis def: "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails." [HPO:probinson] -synonym: "Thick skin around nails" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Thick skin around nails" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024681 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0100803 ! Abnormality of the periungual region @@ -57243,7 +57386,7 @@ is_a: HP:0100803 ! Abnormality of the periungual region id: HP:0008400 name: Onycholysis of distal fingernails def: "Detachment of the distal fingernails from the nail bed." [HPO:probinson] -synonym: "Detachment of outermost fingernails" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Detachment of outermost fingernails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024680 is_a: HP:0040039 ! Onycholysis of fingernails @@ -57253,7 +57396,7 @@ name: Onychogryposis of toenails alt_id: HP:0008395 alt_id: HP:0008405 def: "Thickened toenails." [HPO:probinson] -synonym: "Overgrowth and curving of toenails" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Overgrowth and curving of toenails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024679 is_a: HP:0001805 ! Thick nail @@ -57277,7 +57420,7 @@ def: "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes comment: Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. synonym: "Dystrophic nails" EXACT [] synonym: "Onychodystrophy" EXACT [] -synonym: "Poor nail formation" EXACT layperson [http://naildystrophy.com/, http://orcid.org/0000-0001-5208-3432] +synonym: "Poor nail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432] xref: MEDDRA:10028698 "Nail dystrophy" xref: SNOMEDCT_US:87065009 xref: UMLS:C0221260 @@ -57286,7 +57429,7 @@ is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008407 name: Hyperconvex thumb nails -synonym: "Tightly curved thumb nail" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Tightly curved thumb nail" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1855290 is_a: HP:0001795 ! Hyperconvex nail @@ -57300,8 +57443,8 @@ is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008414 name: Lumbar kyphosis in infancy -synonym: "Hunched back in infancy" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Round back in infancy" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Hunched back in infancy" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Round back in infancy" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1863423 is_a: HP:0008454 ! Lumbar kyphosis @@ -57333,7 +57476,7 @@ id: HP:0008419 name: Intervertebral disc degeneration def: "The presence of degenerative changes of intervertebral disk." [HPO:probinson] synonym: "Degeneration of intervertebral disks" EXACT [] -synonym: "Degenerative disc disease" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Degenerative disc disease" EXACT [ORCID:0000-0001-6908-9849] synonym: "Degenerative intervertebral disk" EXACT [] xref: MSH:D055959 xref: SNOMEDCT_US:77547008 @@ -57372,7 +57515,7 @@ is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008424 name: Hypoplastic 5th lumbar vertebrae -synonym: "Underdeveloped 5th lumbar vertebrae" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped 5th lumbar vertebrae" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1859366 is_a: HP:0008417 ! Vertebral hypoplasia @@ -57419,7 +57562,7 @@ id: HP:0008434 name: Hypoplastic cervical vertebrae alt_id: HP:0008415 synonym: "Cervical vertebrae hypoplasia" EXACT [] -synonym: "Underdeveloped cervical vertebrae" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped cervical vertebrae" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1835570 is_a: HP:0008417 ! Vertebral hypoplasia is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine @@ -57433,8 +57576,8 @@ is_a: HP:0004606 ! Unossified vertebral bodies [Term] id: HP:0008436 name: Absent/hypoplastic coccyx -synonym: "Absent/small tailbone" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped tailbone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent/small tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1856644 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum @@ -57474,7 +57617,7 @@ id: HP:0008441 name: Herniation of intervertebral nuclei def: "The presence of one or more herniated nucleus pulposus of intervertebral disk." [HPO:probinson] subset: hposlim_core -synonym: "Herniated disk" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Herniated disk" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Herniated intervertebral nuclei" EXACT [] xref: MSH:D007405 xref: SNOMEDCT_US:73589001 @@ -57564,7 +57707,7 @@ name: Lumbar kyphosis alt_id: HP:0008487 def: "Over curvature of the lumbar region." [HPO:probinson] synonym: "Lumbar gibbus deformity" EXACT [] -synonym: "Rounded lower back" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Rounded lower back" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844818 is_a: HP:0100712 ! Abnormality of the lumbar spine @@ -57601,7 +57744,7 @@ id: HP:0008459 name: Cervical vertebral agenesis def: "Agenesis of one or more vertebrae of the cervical vertebral column." [HPO:probinson] synonym: "Cervical vertebrae agenesis" EXACT [] -synonym: "Missing cervical vertebrae" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Missing cervical vertebrae" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:C562952 xref: SNOMEDCT_US:91880006 xref: UMLS:C0432160 @@ -57610,7 +57753,7 @@ is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008460 name: Hypoplastic spinal processes -synonym: "Underdeveloped spinal processes" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped spinal processes" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024674 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column @@ -57684,8 +57827,8 @@ is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008472 name: Prominent protruding coccyx -synonym: "Large tailbone" BROAD layperson [orcid.org/0000-0001-6908-9849] -synonym: "Prominent protruding tailbone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Large tailbone" BROAD layperson [ORCID:0000-0001-6908-9849] +synonym: "Prominent protruding tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1850044 xref: UMLS:C4280412 is_a: HP:0040016 ! Prominent coccyx @@ -57742,8 +57885,8 @@ is_a: HP:0008417 ! Vertebral hypoplasia id: HP:0008480 name: Cervical spondylosis def: "The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column." [HPO:probinson] -synonym: "Cervical oestoarthritis" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Neck arthritis" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Cervical oestoarthritis" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Neck arthritis" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D055009 xref: SNOMEDCT_US:387800004 xref: SNOMEDCT_US:387801000 @@ -57812,17 +57955,17 @@ is_a: HP:0000236 ! Abnormality of the anterior fontanelle id: HP:0008494 name: Inferior lens subluxation def: "Partial displacement of the lens in the inferior direction." [HPO:probinson] -synonym: "Inferior subluxated lens" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Inferior subluxated lens" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C2036842 is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008496 name: Multiple rows of eyelashes -synonym: "Double row of eyelashes" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Extra rows of eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Double row of eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Extra rows of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Multiple rows of eyelashes" EXACT layperson [] -synonym: "Two rows of eyelashes" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Two rows of eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:95339000 xref: UMLS:C0423848 xref: UMLS:C3550336 @@ -57837,21 +57980,22 @@ is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0008498 name: No permanent dentition -synonym: "Absence of adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of secondary dentition" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing adult teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "No adult dentition" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "No secondary dentition" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Absence of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of secondary dentition" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "No adult dentition" EXACT [ORCID:0000-0001-5889-4463] +synonym: "No secondary dentition" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4024666 is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0008499 name: High hypermetropia -def: "A severe form of hypermetropia with over +5.00 diopters." [DDD:ncarter, UManchester:psergouniotis] +def: "A severe form of hypermetropia with over +5.00 diopters." [DDD:ncarter, ORCID:0000-0003-0986-4123] +synonym: "High hyperopia" EXACT [] synonym: "High-grade hypermetropia" EXACT [] -synonym: "Severe farsightedness" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Severe long-sightedness" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Severe farsightedness" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Severe long-sightedness" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024665 is_a: HP:0000540 ! Hypermetropia @@ -57860,7 +58004,7 @@ id: HP:0008501 name: Median cleft lip and palate alt_id: HP:0009089 def: "Cleft lip or palate affecting the midline region of the palate." [HPO:sdoelken] -synonym: "Central cleft lip and palate" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Central cleft lip and palate" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Medial cleft lip and palate" EXACT [] synonym: "Midline cleft lip/palate" EXACT layperson [] synonym: "Wide midline cleft lip/palate" EXACT [] @@ -57912,8 +58056,8 @@ is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008515 name: Aplasia/Hypoplasia of the vertebrae -synonym: "Absent/small vetebrae" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped vetebrae" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small vetebrae" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped vetebrae" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024662 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column @@ -57932,8 +58076,8 @@ creation_date: 2008-04-04T02:31:00Z id: HP:0008517 name: Aplasia/Hypoplasia of the sacrum def: "Aplasia or developmental hypoplasia of the sacral bone." [HPO:probinson] -synonym: "Absent/small sacrum" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped sacrum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small sacrum" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped sacrum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024660 is_a: HP:0005107 ! Abnormality of the sacrum is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column @@ -57943,12 +58087,12 @@ creation_date: 2008-04-04T02:32:00Z [Term] id: HP:0008518 name: Aplasia/Hypoplasia involving the vertebral column -synonym: "Absent/small backbone" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/small spine" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/small vertebral column" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped backbone" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped spine" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped vetebral column" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small backbone" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/small spine" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/small vertebral column" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped backbone" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped spine" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped vetebral column" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024659 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton @@ -57960,7 +58104,7 @@ id: HP:0008519 name: Abnormality of the coccyx alt_id: HP:0002830 def: "An abnormality of the coccyx." [HPO:probinson] -synonym: "Abnormal tailbone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024658 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology @@ -57976,7 +58120,7 @@ subset: hposlim_core synonym: "Ear, posterior helical groove" EXACT [] synonym: "Ear, posterior helical notch" EXACT [] synonym: "Helix, posterior pit" EXACT [] -synonym: "Indentation in back of outer ear" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Indentation in back of outer ear" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Pits in posterior aspect of ear helices" EXACT [] xref: UMLS:C4021539 is_a: HP:0011039 ! Abnormality of the helix @@ -58013,8 +58157,8 @@ is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008528 name: Long hairs growing from helix of pinna -synonym: "Ear hair" BROAD layperson [orcid.org/0000-0001-6908-9849] -synonym: "Long hairs growing from helix of ear" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Ear hair" BROAD layperson [ORCID:0000-0001-6908-9849] +synonym: "Long hairs growing from helix of ear" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:27394002 xref: UMLS:C0222050 xref: UMLS:C4024657 @@ -58035,14 +58179,14 @@ is_a: HP:0040121 ! Abnormality of the acoustic reflex id: HP:0008537 name: Cleft at the superior portion of the pinna comment: This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. -synonym: "Cleft at the superior portion of the ear" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Cleft at the superior portion of the ear" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1865302 is_a: HP:0009902 ! Cleft helix [Term] id: HP:0008541 name: Superiorly displaced ears -synonym: "High set ears" RELATED layperson [orcid.org/0000-0001-6908-9849] +synonym: "High set ears" RELATED layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1850190 is_a: HP:0000357 ! Abnormal location of ears @@ -58177,7 +58321,7 @@ id: HP:0008586 name: Hypoplasia of the cochlea def: "Developmental hypoplasia of the cochlea." [HPO:probinson] synonym: "Hypoplastic cochlea" EXACT [] -synonym: "Underdeveloped cochlea" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped cochlea" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C2676974 is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea @@ -58202,7 +58346,7 @@ is_a: HP:0000402 ! Stenosis of the external auditory canal id: HP:0008589 name: Hypoplastic helices def: "Underdevelopment of the helix, i.e., of the outer rim of the pinna." [HPO:curators] -synonym: "Underdeveloped helices" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped helices" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1842681 is_a: HP:0011039 ! Abnormality of the helix @@ -58246,7 +58390,7 @@ is_a: HP:0012712 ! Mild hearing impairment [Term] id: HP:0008605 name: Unilateral external ear deformity -synonym: "Deformed external ear on one side" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Deformed external ear on one side" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834043 is_a: HP:0000356 ! Abnormality of the outer ear @@ -58254,8 +58398,8 @@ is_a: HP:0000356 ! Abnormality of the outer ear id: HP:0008606 name: Supraauricular pit def: "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] -synonym: "Pit above the ear" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Supraauricular fistula" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Pit above the ear" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Supraauricular fistula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Supraauricular sinus" EXACT [] synonym: "Supraauricular sinuses" EXACT [] xref: UMLS:C1862059 @@ -58325,7 +58469,7 @@ name: Severe sensorineural hearing impairment alt_id: HP:0008534 alt_id: HP:0008574 def: "A severe form of sensorineural hearing impairment." [HPO:probinson] -synonym: "Severe sensorineural deafness" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Severe sensorineural deafness" EXACT [ORCID:0000-0001-6908-9849] synonym: "Severe sensorineural hearing loss" EXACT [] xref: UMLS:C4021533 is_a: HP:0000407 ! Sensorineural hearing impairment @@ -58379,7 +58523,7 @@ is_a: HP:0000095 ! Abnormality of renal glomerulus morphology [Term] id: HP:0008639 name: Gonadal hypoplasia -synonym: "Underdeveloped gonad" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped gonad" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0239761 is_a: HP:0000812 ! Abnormal internal genitalia @@ -58435,8 +58579,8 @@ id: HP:0008655 name: Aplasia/Hypoplasia of the fallopian tube def: "Aplasia or developmental hypoplasia of the fallopian tube." [HPO:probinson] synonym: "Absent or rudimentary fallopian tubes" RELATED [] -synonym: "Absent/small fallopian tube" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped fallopian tube" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020791 xref: UMLS:C4024646 is_a: HP:0011027 ! Abnormality of the fallopian tube @@ -58478,7 +58622,7 @@ is_a: HP:0000091 ! Abnormality of the renal tubule id: HP:0008661 name: Urethral stenosis def: "Abnormal narrowing of the urethra." [HPO:probinson] -synonym: "Narrowing of the urethra" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of the urethra" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014525 xref: SNOMEDCT_US:236647003 xref: SNOMEDCT_US:76618002 @@ -58554,7 +58698,7 @@ name: Calcium oxalate nephrolithiasis alt_id: HP:0008700 alt_id: HP:0008725 def: "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys." [HPO:probinson] -synonym: "Calcium oxalate kidney stones" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Calcium oxalate kidney stones" EXACT [ORCID:0000-0001-6908-9849] synonym: "Calcium oxalate urolithiasis" RELATED [] synonym: "Oxalate nephrolithiasis" EXACT [] xref: MSH:C563477 @@ -58597,8 +58741,8 @@ name: Renal hypoplasia/aplasia alt_id: HP:0004744 alt_id: HP:0008701 def: "Absence or underdevelopment of the kidney." [HPO:probinson] -synonym: "Absent/small kidney" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped kidney" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small kidney" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped kidney" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Renal agenesis/hypoplasia" EXACT [] synonym: "Renal aplasia/hypoplasia" EXACT [] xref: UMLS:C1857453 @@ -58630,8 +58774,8 @@ is_a: HP:0012880 ! Abnormality of the labia minora id: HP:0008684 name: Aplasia/hypoplasia of the uterus def: "Absence or developmental hypoplasia of the uterus." [HPO:probinson] -synonym: "Absent/small uterus" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped uterus" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small uterus" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped uterus" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024640 is_a: HP:0000130 ! Abnormality of the uterus @@ -58639,7 +58783,7 @@ is_a: HP:0000130 ! Abnormality of the uterus id: HP:0008687 name: Hypoplasia of the prostate synonym: "Hypoplastic prostate" EXACT [] -synonym: "Underdeveloped prostate" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped prostate" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844923 is_a: HP:0008775 ! Abnormality of the prostate @@ -58669,7 +58813,7 @@ is_obsolete: true [Term] id: HP:0008695 name: Transient nephrotic syndrome -synonym: "Transient nephrosis" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Transient nephrosis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024638 is_a: HP:0000100 ! Nephrotic syndrome @@ -58686,7 +58830,7 @@ id: HP:0008697 name: Hypoplasia of the fallopian tube def: "Developmental hypoplasia of the fallopian tube." [HPO:probinson] synonym: "Rudimentary fallopian tubes" RELATED [] -synonym: "Underdeveloped fallopian tube" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped fallopian tube" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1968706 is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube @@ -58770,8 +58914,8 @@ is_a: HP:0010480 ! Urethral fistula id: HP:0008717 name: Unilateral renal atrophy def: "A unilateral form of atrophy of the kidney." [HPO:probinson] -synonym: "Kidney degeneration on one side" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Unilateral kidney wasting" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Kidney degeneration on one side" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Unilateral kidney wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:424998002 xref: UMLS:C1827184 is_a: HP:0012585 ! Renal atrophy @@ -58815,7 +58959,7 @@ id: HP:0008724 name: Hypoplasia of the ovary def: "Developmental hypoplasia of the ovary." [HPO:probinson] synonym: "Hypoplastic ovary" RELATED [] -synonym: "Underdeveloped ovary" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped ovary" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:93279005 xref: UMLS:C0685840 xref: UMLS:C1835452 @@ -58828,7 +58972,7 @@ alt_id: HP:0011938 def: "Developmental hypoplasia of the vagina." [HPO:probinson] synonym: "Hypoplastic vagina" RELATED [] synonym: "Rudimentary vagina" EXACT [] -synonym: "Underdeveloped vagina" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped vagina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:253836009 xref: UMLS:C0345309 xref: UMLS:C1442988 @@ -58837,7 +58981,7 @@ is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0008729 name: Absence of labia majora -synonym: "Absent vaginal lips" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849575 is_a: HP:0012881 ! Abnormality of the labia majora @@ -58987,7 +59131,7 @@ is_a: HP:0025423 ! Abnormal larynx morphology id: HP:0008753 name: Aplasia of the epiglottis def: "Absence of the epiglottis." [HPO:probinson] -synonym: "Absent epiglottis" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent epiglottis" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024628 is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis @@ -59014,7 +59158,7 @@ name: Bowing of the vocal cords def: "Bowing (abnormal curvature) of the vocal folds." [HPO:probinson] xref: SNOMEDCT_US:232448002 xref: UMLS:C0396064 -is_a: HP:0008777 ! Abnormality of the vocal cords +is_a: HP:0008777 ! Abnormal vocal cord morphology [Term] id: HP:0008757 @@ -59051,7 +59195,7 @@ is_a: HP:0000735 ! Impaired social interactions id: HP:0008765 name: Auditory hallucinations alt_id: HP:0000714 -synonym: "Hallucinations of sound" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hallucinations of sound" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hearing sounds" EXACT layperson [] xref: MSH:D006212 xref: SNOMEDCT_US:45150006 @@ -59088,8 +59232,8 @@ is_a: HP:0000722 ! Obsessive-compulsive behavior id: HP:0008771 name: Aplasia/Hypoplasia of the ear def: "The presence of aplasia or developmental hypoplasia of the ear." [HPO:probinson] -synonym: "Absent/small ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small ear" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped ear" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024627 is_a: HP:0031703 ! Abnormal ear morphology created_by: peter @@ -59099,8 +59243,8 @@ creation_date: 2008-04-04T05:44:00Z id: HP:0008772 name: Aplasia/Hypoplasia of the external ear def: "The presence of aplasia or developmental hypoplasia of all or part of the external ear." [HPO:probinson] -synonym: "Absent/small external ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped external ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small external ear" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped external ear" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024626 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear @@ -59113,8 +59257,8 @@ name: Aplasia/Hypoplasia of the middle ear alt_id: HP:0008533 alt_id: HP:0008548 def: "Aplasia or developmental hypoplasia of all or part of the middle ear." [HPO:probinson] -synonym: "Absent/small middle ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle ear" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic/aplastic middle ear structures" EXACT [] synonym: "Middle ear hypoplasia/aplasia" EXACT [] xref: UMLS:C4021529 @@ -59127,8 +59271,8 @@ creation_date: 2008-04-04T05:47:00Z id: HP:0008774 name: Aplasia/Hypoplasia of the inner ear def: "Aplasia or developmental hypoplasia of the inner ear." [HPO:probinson] -synonym: "Absent/small inner ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped inner ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small inner ear" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped inner ear" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024625 is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear is_a: HP:0011390 ! Morphological abnormality of the inner ear @@ -59149,7 +59293,7 @@ creation_date: 2008-04-04T06:01:00Z id: HP:0008776 name: Abnormal renal artery morphology def: "Any structural abnormality of the renal artery." [HPO:probinson] -synonym: "Abnormal kidney artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal kidney artery" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the renal artery" EXACT [] xref: UMLS:C4024624 is_a: HP:0011004 ! Abnormal systemic arterial morphology @@ -59159,7 +59303,7 @@ creation_date: 2008-04-04T06:13:00Z [Term] id: HP:0008777 -name: Abnormality of the vocal cords +name: Abnormal vocal cord morphology def: "An abnormality of the vocal cord." [HPO:probinson] comment: The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx. synonym: "Abnormality of the vocal cords" EXACT layperson [] @@ -59180,7 +59324,7 @@ id: HP:0008783 name: Wide proximal femoral metaphysis alt_id: HP:0008790 def: "Increased width of the proximal part of the shaft (metaphysis) of the femur." [HPO:probinson] -synonym: "Wide metaphysis of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide metaphysis of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024623 is_a: HP:0006417 ! Broad femoral metaphyses is_a: HP:0006431 ! Proximal femoral metaphyseal abnormality @@ -59189,7 +59333,7 @@ is_a: HP:0006431 ! Proximal femoral metaphyseal abnormality id: HP:0008784 name: Wide capital femoral epiphyses def: "Abnormally wide morphology of the proximal epiphysis of the femur." [HPO:probinson] -synonym: "Wide end part of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024622 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head @@ -59218,7 +59362,7 @@ alt_id: HP:0008827 def: "Delayed maturation and calcification of the pubic bone." [HPO:probinson] subset: hposlim_core synonym: "Absent pubic ossification in infancy" EXACT [] -synonym: "Delayed maturation fo pubic bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Delayed maturation fo pubic bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed mineralization of pubic bone" RELATED layperson [] xref: UMLS:C1861528 xref: UMLS:C1866710 @@ -59229,7 +59373,7 @@ is_a: HP:0009105 ! Abnormal ossification of the pubic bone id: HP:0008789 name: Cone-shaped capital femoral epiphysis def: "A cone-shaped deformity of the proximal epiphysis of the femur." [HPO:probinson] -synonym: "Cone-shaped end part of innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846157 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010579 ! Cone-shaped epiphysis @@ -59287,7 +59431,7 @@ alt_id: HP:0008831 def: "Underdevelopment of the femoral head." [HPO:probinson] synonym: "Hypoplastic femoral head" EXACT [] synonym: "Small femoral heads" EXACT [] -synonym: "Small head of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856920 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck @@ -59303,7 +59447,7 @@ is_a: HP:0030266 ! Abnormality of the sacroiliac notch id: HP:0008804 name: Broad femoral head def: "Increased width of the femoral head." [HPO:probinson] -synonym: "Wide head of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024619 is_a: HP:0003368 ! Abnormality of the femoral head @@ -59330,7 +59474,7 @@ is_a: HP:0011867 ! Abnormality of the wing of the ilium id: HP:0008812 name: Flattened femoral head def: "An abnormally flattened femoral head." [HPO:probinson] -synonym: "Flat head of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flat head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flattened femoral heads" RELATED [HPO:skoehler] xref: UMLS:C1860601 is_a: HP:0003368 ! Abnormality of the femoral head @@ -59338,7 +59482,7 @@ is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0008817 name: Aplastic pubic bones -synonym: "Absent pubic bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848660 is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone @@ -59354,7 +59498,7 @@ id: HP:0008819 name: Narrow femoral neck def: "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] synonym: "Narrow femoral necks" RELATED [HPO:skoehler] -synonym: "Narrow neck of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrow neck of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863739 is_a: HP:0003367 ! Abnormality of the femoral neck @@ -59404,7 +59548,7 @@ id: HP:0008826 name: Dislocation of the femoral head def: "Joint dislocation of the femoral head." [HPO:probinson] synonym: "Dislocated femoral heads" EXACT [] -synonym: "Dislocated head of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dislocated head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859446 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0030311 ! Lower extremity joint dislocation @@ -59425,7 +59569,7 @@ is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head id: HP:0008829 name: Delayed femoral head ossification def: "Delayed ossification of the femoral head." [HPO:probinson] -synonym: "Delayed maturation of the head of the thigh bone" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed maturation of the head of the thigh bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846446 xref: UMLS:C4280410 is_a: HP:0003368 ! Abnormality of the femoral head @@ -59454,7 +59598,7 @@ is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008838 name: Stippled calcification proximal humeral epiphyses -synonym: "Speckled calcifications in end part of innermost long bone of upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of innermost long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857243 is_a: HP:0003901 ! Stippled calcification of the humeral epiphyses @@ -59524,7 +59668,7 @@ alt_id: HP:0008911 alt_id: HP:0008932 def: "Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms." [DDD:hfirth] synonym: "Marked growth retardation" EXACT layperson [] -synonym: "Severe growth delay in children" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Severe growth delay in children" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Severe postnatal growth deficiency" EXACT [] synonym: "Severe postnatal growth failure" EXACT layperson [] xref: UMLS:C1857641 @@ -59534,7 +59678,7 @@ is_a: HP:0008897 ! Postnatal growth retardation id: HP:0008855 name: Moderate postnatal growth retardation def: "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms." [DDD:hfirth] -synonym: "Moderate growth delay in children" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Moderate growth delay in children" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024616 is_a: HP:0008897 ! Postnatal growth retardation @@ -59550,8 +59694,8 @@ is_a: HP:0003521 ! Disproportionate short-trunk short stature id: HP:0008866 name: Failure to thrive secondary to recurrent infections def: "Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections." [https://en.wikipedia.org/wiki/Failure_to_thrive] -synonym: "Faltering weight secondary to recurrent infections" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Weight faltering secondary to recurrent infections" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Faltering weight secondary to recurrent infections" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Weight faltering secondary to recurrent infections" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1832323 is_a: HP:0002719 ! Recurrent infections @@ -59610,7 +59754,7 @@ id: HP:0008887 name: Adipose tissue loss alt_id: HP:0008938 def: "A loss of adipose tissue." [HPO:probinson] -synonym: "Loss of fat tissue" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Loss of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024615 is_a: HP:0040063 ! Decreased adipose tissue @@ -59629,7 +59773,7 @@ alt_id: HP:0008868 alt_id: HP:0008901 alt_id: HP:0008918 def: "Slow or limited growth after birth." [DDD:hfirth] -synonym: "Growth delay as children" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Growth delay as children" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Growth retardation as children" EXACT [] synonym: "Postnatal growth deceleration" EXACT [] synonym: "Postnatal growth deficiency" EXACT [] @@ -59713,7 +59857,7 @@ is_a: HP:0004322 ! Short stature id: HP:0008935 name: Generalized neonatal hypotonia def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature." [HPO:probinson] -synonym: "Generalized low muscle tone in neonate" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Generalized low muscle tone in neonate" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypotonia, neonatal, generalized" EXACT [] xref: UMLS:C1845123 is_a: HP:0001319 ! Neonatal hypotonia @@ -59724,7 +59868,7 @@ name: Muscular hypotonia of the trunk alt_id: HP:0002320 def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] synonym: "Axial hypotonia" EXACT [] -synonym: "Low muscle tone in trunk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low muscle tone in trunk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Truncal hypotonia" EXACT [] xref: UMLS:C1853743 is_a: HP:0001252 ! Muscular hypotonia @@ -59733,7 +59877,7 @@ is_a: HP:0001252 ! Muscular hypotonia id: HP:0008940 name: Generalized lymphadenopathy def: "A generalized form of lymphadenopathy." [HPO:probinson] -synonym: "Generalized swelling of lymph nodes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Generalized swelling of lymph nodes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Swollen lymph nodes affecting all regions of the body" EXACT layperson [] xref: SNOMEDCT_US:274741002 xref: UMLS:C0476486 @@ -59759,7 +59903,7 @@ def: "Muscular atrophy of distal leg muscles." [HPO:probinson] comment: Distal lower limb muscle atrophy is commonly due to peripheral neuropathy. synonym: "Lower leg amyotrophy" EXACT [] synonym: "Lower limb atrophy" RELATED [] -synonym: "Lower limb degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Lower limb degeneration" EXACT [ORCID:0000-0001-5208-3432] synonym: "Lower limb muscle hypotrophy" RELATED [] synonym: "Muscle atrophy, lower limb, distal" EXACT [] xref: UMLS:C1836451 @@ -59790,7 +59934,7 @@ alt_id: HP:0002523 alt_id: HP:0010572 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] comment: This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. -synonym: "Decreased muscle tone in infant" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased muscle tone in infant" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypotonia early" EXACT [] synonym: "Hypotonia in infancy" EXACT [] synonym: "Hypotonia, early" EXACT [] @@ -59813,7 +59957,7 @@ is_a: HP:0007126 ! Proximal amyotrophy id: HP:0008952 name: Shoulder muscle hypoplasia def: "Underdevelopment of muscles of the shoulder." [HPO:probinson] -synonym: "Underdeveloped shoulder muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped shoulder muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1969001 is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature is_a: HP:0009004 ! Hypoplasia of the musculature @@ -59851,7 +59995,7 @@ synonym: "Amyotrophy involving the thigh" EXACT [] synonym: "Amyotrophy of the thigh musculature" EXACT [] synonym: "Proximal lower limb muscle atrophy" EXACT [] synonym: "Thigh muscle atrophy" EXACT [] -synonym: "Wasting of thigh muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wasting of thigh muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836767 is_a: HP:0001441 ! Abnormality of the musculature of the thigh is_a: HP:0007126 ! Proximal amyotrophy @@ -59869,7 +60013,7 @@ id: HP:0008962 name: Calf muscle hypoplasia def: "Underdevelopment of the muscuklature of the calf." [HPO:probinson] synonym: "Hypoplastic calf muscles" EXACT [] -synonym: "Underdeveloped calf muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805450 is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0009004 ! Hypoplasia of the musculature @@ -59948,7 +60092,7 @@ alt_id: HP:0009024 def: "Muscle hypertrophy affecting the calf muscles." [HPO:curators] comment: Distal lower limb hypertrophy synonym: "Calf hypertrophy" EXACT [] -synonym: "Increased size of calf muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased size of calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscular hypertrophy of the calf muscles" EXACT [] xref: UMLS:C1843057 is_a: HP:0001430 ! Abnormality of the calf musculature @@ -59958,11 +60102,11 @@ is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities id: HP:0008984 name: Neck muscle hypoplasia def: "Underdevelopment of muscles of the neck." [HPO:curators] -synonym: "Decreased size of neck muscle" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of neck muscle" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic neck muscle" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small neck muscle" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of neck muscle" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of neck muscle" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic neck muscle" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1969000 xref: UMLS:C4280408 xref: UMLS:C4280409 @@ -59983,7 +60127,7 @@ id: HP:0008986 name: Agenesis of the diaphragm def: "Congenital lack, i.e., aplasia of the diaphragm." [HPO:probinson] comment: An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity. -synonym: "Absent diaphragm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Agenesis of diaphragm" RELATED [] xref: SNOMEDCT_US:702613006 xref: SNOMEDCT_US:72424001 @@ -60040,8 +60184,8 @@ id: HP:0008998 name: Pectoralis hypoplasia def: "Underdevelopment of the pectoral muscle." [HPO:probinson] synonym: "Hypoplastic pectoral muscle" EXACT [] -synonym: "Small pec muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped pec muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846477 is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia is_a: HP:0009004 ! Hypoplasia of the musculature @@ -60051,7 +60195,7 @@ id: HP:0009002 name: Loss of truncal subcutaneous adipose tissue alt_id: HP:0008989 def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk." [HPO:probinson] -synonym: "Loss of fat tissue in trunk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Loss of fat tissue in trunk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Loss of subcutaneous truncal adipose tissue" EXACT [] synonym: "Loss of truncal adipose tissue" EXACT [] xref: UMLS:C1835384 @@ -60061,7 +60205,7 @@ is_a: HP:0008887 ! Adipose tissue loss id: HP:0009003 name: Increased subcutaneous truncal adipose tissue def: "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body." [HPO:curators] -synonym: "Increased fat below the skin in trunk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased fat below the skin in trunk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837781 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0009126 ! Increased adipose tissue @@ -60073,7 +60217,7 @@ alt_id: HP:0009034 def: "Underdevelopment of the musculature." [HPO:sdoelken] synonym: "Muscle hypoplasia" EXACT [] synonym: "Poorly developed skeletal musculature" EXACT layperson [] -synonym: "Underdeveloped muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205530002 xref: UMLS:C0240414 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature @@ -60090,7 +60234,7 @@ id: HP:0009007 name: Biceps hypoplasia def: "Underdevelopment of the biceps muscle." [HPO:curators] synonym: "Hypoplastic biceps" EXACT [] -synonym: "Underdeveloped biceps" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped biceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862499 is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps is_a: HP:0030239 ! Hypoplasia of the upper arm musculature @@ -60114,7 +60258,7 @@ is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis id: HP:0009016 name: Upper limb muscle hypoplasia def: "Underdevelopment of muscles of the arm." [HPO:curators] -synonym: "Underdevelopment of upper limb muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdevelopment of upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846478 is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs is_a: HP:0009004 ! Hypoplasia of the musculature @@ -60123,20 +60267,20 @@ is_a: HP:0009004 ! Hypoplasia of the musculature id: HP:0009017 name: Loss of gluteal subcutaneous adipose tissue def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region." [HPO:probinson] -synonym: "Loss of fat tissue below the skin in gluts" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Loss of fat tissue below the skin in gluts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024606 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0009019 name: Progressive loss of facial adipose tissue -synonym: "Atrophy of facial adipose tissue" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Facial fat atrophy" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Facial fat wasting" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Atrophy of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Facial fat atrophy" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Facial fat wasting" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Loss of subcutaneous adipose tissue from face, progressive" EXACT [] -synonym: "Progressive loss of facial fat" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Progressive loss of facial subcutaneous adipose tissue" EXACT [orcid.org/0000-0001-5889-4462] -synonym: "Progressive loss of subcutaneous adipose tissue from face" EXACT [orcid.org/0000-0001-5889-4461] +synonym: "Progressive loss of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Progressive loss of facial subcutaneous adipose tissue" EXACT [ORCID:0000-0001-5889-4462] +synonym: "Progressive loss of subcutaneous adipose tissue from face" EXACT [ORCID:0000-0001-5889-4461] xref: UMLS:C1837510 is_a: HP:0000292 ! Loss of facial adipose tissue @@ -60255,7 +60399,7 @@ is_a: HP:0003202 ! Skeletal muscle atrophy id: HP:0009050 name: Quadriceps muscle atrophy def: "Muscular atrophy involving the quadriceps muscle." [HPO:curators] -synonym: "Wasting of quad muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wasting of quad muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024603 is_a: HP:0008956 ! Proximal lower limb amyotrophy @@ -60294,14 +60438,14 @@ name: Generalized limb muscle atrophy alt_id: HP:0003788 def: "Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations." [HPO:probinson] synonym: "Generalized muscle atrophy, proximal and distal" EXACT [] -synonym: "Generalized muscle wasting" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Generalized muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1838114 is_a: HP:0003700 ! Generalized amyotrophy [Term] id: HP:0009056 name: Loss of subcutaneous adipose tissue from upper limbs -synonym: "Loss of fat tissue below the skin from upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Loss of fat tissue below the skin from upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024602 is_a: HP:0003635 ! Loss of subcutaneous adipose tissue in limbs @@ -60374,8 +60518,8 @@ is_a: HP:0009125 ! Lipodystrophy id: HP:0009067 name: Progressive spinal muscular atrophy def: "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] -synonym: "Progressive spinal muscle degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Progressive spinal muscle wasting" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Progressive spinal muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Progressive spinal muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4082951 is_a: HP:0007269 ! Spinal muscular atrophy @@ -60423,11 +60567,11 @@ is_a: HP:0030237 ! Hand muscle weakness [Term] id: HP:0009084 name: Midline notch of upper alveolar ridge -synonym: "Midline cleft of maxillary alveolar process" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Midline cleft of upper alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Midline notch of maxillary alveolar process" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Midline notch of maxillary alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Midline notch of upper gum ridge" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Midline cleft of maxillary alveolar process" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Midline cleft of upper alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Midline notch of maxillary alveolar process" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Midline notch of maxillary alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Midline notch of upper gum ridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1851853 is_a: HP:0006477 ! Abnormality of the alveolar ridges @@ -60439,15 +60583,15 @@ alt_id: HP:0009083 def: "Increased width of the alveolar ridges." [pmid:19125428] comment: This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding. subset: hposlim_core -synonym: "Alveolar ridge excess" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Enlarged alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of alveolar process of jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Alveolar ridge excess" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Enlarged alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypertrophied alveolar ridge" RELATED [] -synonym: "Increased size of alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of gum ridge" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased size of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased size of gum ridge" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of alveolar ridge" EXACT [] -synonym: "Overgrowth of gum ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Overgrowth of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick alveolar ridges" EXACT [] synonym: "Thickened alveolar ridges" EXACT [] xref: UMLS:C1856164 @@ -60477,9 +60621,9 @@ is_obsolete: true [Term] id: HP:0009092 name: Progressive alveolar ridge hypertropy -synonym: "Increasing overgrowth of gum ridge" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increasing size of gum ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Progressive hypertrophy of alveolar process of jaw" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Increasing overgrowth of gum ridge" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Increasing size of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Progressive hypertrophy of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1854934 xref: UMLS:C4280407 is_a: HP:0006477 ! Abnormality of the alveolar ridges @@ -60487,16 +60631,16 @@ is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009094 name: Cleft lower alveolar ridge -synonym: "Cleft of lower alveolar process" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Cleft of lower gingiva" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Cleft of lower gum ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Cleft of mandibular alveolar process" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Cleft of mandibular gingiva" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Notch of lower alveolar process" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Notch of lower alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Notch of lower gum ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Notch of mandibular alveolar process" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Notch of mandibular alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cleft of lower alveolar process" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Cleft of lower gingiva" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Cleft of lower gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Cleft of mandibular alveolar process" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Cleft of mandibular gingiva" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Notch of lower alveolar process" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Notch of lower alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Notch of lower gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Notch of mandibular alveolar process" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Notch of mandibular alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849350 xref: UMLS:C4280404 xref: UMLS:C4280405 @@ -60507,7 +60651,7 @@ is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla id: HP:0009098 name: Chronic oral candidiasis def: "Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx." [] -synonym: "Chronic oral thrush" EXACT layperson [orcid.org/0000-0002-0736-9199] +synonym: "Chronic oral thrush" EXACT layperson [ORCID:0000-0002-0736-9199] xref: UMLS:C4024599 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis @@ -60515,7 +60659,7 @@ is_a: HP:0002728 ! Chronic mucocutaneous candidiasis id: HP:0009099 name: Median cleft palate def: "Cleft palate of the midline of the palate." [HPO:probinson] -synonym: "Central cleft palate" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Central cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midline cleft palate" EXACT layperson [] xref: UMLS:C1850968 is_a: HP:0000175 ! Cleft palate @@ -60523,7 +60667,7 @@ is_a: HP:0000175 ! Cleft palate [Term] id: HP:0009100 name: Thick anterior alveolar ridges -synonym: "Thick anterior alveolar process of jaw" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Thick anterior alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1859377 is_a: HP:0009085 ! Alveolar ridge overgrowth @@ -60532,7 +60676,7 @@ id: HP:0009101 name: Submucous cleft lip def: "A cleft of the lip with overlying mucous membrane." [HPO:probinson] comment: Submucous cleft lip may lead to increased nasal resonance. -synonym: "Submucous labial cleft" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Submucous labial cleft" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1839277 is_a: HP:0000204 ! Cleft upper lip @@ -60540,17 +60684,17 @@ is_a: HP:0000204 ! Cleft upper lip id: HP:0009102 name: Anterior open-bite malocclusion def: "A type of malocclusion in which there is a gap between the anterior teeth (incisors)." [HPO:ibailleulforestier] -synonym: "Absence of overlap of anterior upper and lower teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anterior open bite between upper and lower teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Gap between upper and lower front teeth when biting" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of overlap of anterior upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anterior open bite between upper and lower teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Gap between upper and lower front teeth when biting" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024598 is_a: HP:0000689 ! Dental malocclusion [Term] id: HP:0009103 name: Aplasia/Hypoplasia involving the pelvis -synonym: "Absent/small pelvis" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pelvis" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small pelvis" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pelvis" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024597 is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology created_by: peter @@ -60561,8 +60705,8 @@ id: HP:0009104 name: Aplasia/Hypoplasia of the pubic bone alt_id: HP:0008841 def: "Absence or underdevelopment of the pubic bone." [HPO:probinson] -synonym: "Absent/small pubic bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pubic bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic/aplastic pubic bones" EXACT layperson [] xref: UMLS:C1849305 is_a: HP:0003172 ! Abnormality of the pubic bone @@ -60574,7 +60718,7 @@ creation_date: 2008-04-04T08:41:00Z id: HP:0009105 name: Abnormal ossification of the pubic bone def: "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis." [HPO:probinson] -synonym: "Abnormal maturation of the pubic bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of the pubic bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024596 xref: UMLS:C4280403 is_a: HP:0003172 ! Abnormality of the pubic bone @@ -60586,7 +60730,7 @@ creation_date: 2008-04-04T08:41:00Z id: HP:0009106 name: Abnormal pelvis bone ossification def: "An abnormality of the formation and mineralization of any bone of the bony pelvis." [HPO:probinson] -synonym: "Abnormal maturation of the pelvis bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of the pelvis bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification involving the bones of the pelvis" EXACT [] xref: UMLS:C4021525 xref: UMLS:C4280402 @@ -60598,7 +60742,7 @@ creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009107 name: Abnormal ossification involving the femoral head and neck -synonym: "Abnormal maturation of thigh bone head and neck" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of thigh bone head and neck" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024595 is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0003366 ! Abnormality of the femoral neck or head region @@ -60608,8 +60752,8 @@ creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009108 name: Aplasia/Hypoplasia involving the femoral head and neck -synonym: "Absent/small head and neck of thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped head and neck of thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small head and neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped head and neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024594 is_a: HP:0003366 ! Abnormality of the femoral neck or head region is_a: HP:0005613 ! Aplasia/hypoplasia of the femur @@ -60657,7 +60801,7 @@ def: "A decrease in the strength of the diaphragm." [HPO:probinson, pmid:2509822 comment: Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination. synonym: "Diaphragmatic paraparesis" EXACT [] synonym: "Diminished diaphragmatic motion" RELATED [] -synonym: "Weak diaphragm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Weak diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95438009 xref: UMLS:C0521532 xref: UMLS:C4020786 @@ -60670,8 +60814,8 @@ creation_date: 2008-04-05T10:43:00Z id: HP:0009115 name: Aplasia/hypoplasia involving the skeleton def: "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton." [HPO:probinson] -synonym: "Absent/small skeleton" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped skeleton" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small skeleton" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped skeleton" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024592 is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: peter @@ -60690,8 +60834,8 @@ creation_date: 2008-04-05T10:53:00Z id: HP:0009117 name: Aplasia/Hypoplasia of the maxilla def: "Absence or underdevelopment of the Maxilla." [HPO:probinson] -synonym: "Underdevelopment of maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of upper jaw bones" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Underdevelopment of maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024590 is_a: HP:0000326 ! Abnormality of the maxilla is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull @@ -60716,7 +60860,7 @@ creation_date: 2008-04-05T10:57:00Z id: HP:0009119 name: Aplasia/Hypoplasia of the frontal sinuses def: "Absence or underdevelopment of frontal sinus." [HPO:probinson] -synonym: "Abnormally small frontal sinus" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally small frontal sinus" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4024588 is_a: HP:0002687 ! Abnormality of frontal sinus is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses @@ -60768,7 +60912,7 @@ id: HP:0009124 name: Abnormal adipose tissue morphology def: "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes." [HPO:curators] synonym: "Abnormality of adipose tissue" EXACT layperson [] -synonym: "Abnormality of fat tissue" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of fatty tissue" EXACT layperson [] xref: UMLS:C4021524 is_a: HP:0003549 ! Abnormality of connective tissue @@ -60791,7 +60935,7 @@ id: HP:0009126 name: Increased adipose tissue def: "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [HPO:curators] synonym: "Increased adipose tissue" EXACT layperson [] -synonym: "Increased fat tissue" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024583 is_a: HP:0009025 ! Increased connective tissue is_a: HP:0009124 ! Abnormal adipose tissue morphology @@ -60801,7 +60945,7 @@ creation_date: 2008-04-05T11:43:00Z [Term] id: HP:0009127 name: Abnormality of the musculature of the limbs -synonym: "Abnormal limb muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle issues in the arms and/or legs" EXACT layperson [] xref: UMLS:C4024582 is_a: HP:0003011 ! Abnormality of the musculature @@ -60812,8 +60956,8 @@ creation_date: 2008-04-07T02:00:00Z [Term] id: HP:0009128 name: Aplasia/Hypoplasia involving the musculature of the extremities -synonym: "Absent/small muscles of extremities" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped muscles of extremities" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small muscles of extremities" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped muscles of extremities" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024581 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature is_a: HP:0009127 ! Abnormality of the musculature of the limbs @@ -60843,7 +60987,7 @@ def: "Muscular atrophy involving the muscles of the hand." [HPO:curators] comment: This term can be used to described bilateral amyotrophy of the musculature of the hand. synonym: "Amyotrophy involving the musculature of the hand" EXACT [] synonym: "Amyotrophy of hand muscles" EXACT [] -synonym: "Hand muscle degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hand muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hand muscle wasting" EXACT [] synonym: "Hand muscle wasting, bilateral" EXACT [] xref: UMLS:C0239830 @@ -60895,7 +61039,7 @@ creation_date: 2008-04-17T02:45:00Z id: HP:0009138 name: Synostosis involving bones of the lower limbs def: "An abnormal union between bones or parts of bones lower limbs." [HPO:sdoelken] -synonym: "Fusion involving the bones of the lower limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving the bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024577 is_a: HP:0040069 ! Abnormality of lower limb bone is_a: HP:0100240 ! Synostosis of joints @@ -60915,7 +61059,7 @@ creation_date: 2008-04-17T02:52:00Z [Term] id: HP:0009140 name: Synostosis involving bones of the feet -synonym: "Fusion involving the bones of the feet" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving the bones of the feet" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024575 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0009138 ! Synostosis involving bones of the lower limbs @@ -60965,9 +61109,9 @@ creation_date: 2008-05-02T01:39:00Z id: HP:0009147 name: Enlarged epiphysis of the distal phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the outermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the outermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the outermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024572 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger @@ -60979,9 +61123,9 @@ creation_date: 2008-12-22T01:39:32Z id: HP:0009148 name: Small epiphysis of the distal phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the outermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the outermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the outermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024571 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger @@ -60995,9 +61139,9 @@ name: Triangular epiphysis of the distal phalanx of the 5th finger alt_id: HP:0009137 def: "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 5th finger" EXACT [] -synonym: "Triangular end part of the outermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the outermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the outermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021519 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger @@ -61009,9 +61153,9 @@ creation_date: 2008-12-22T01:40:48Z id: HP:0009150 name: Abnormality of the proximal phalanx of the 5th finger def: "Abnormality of the proximal phalanx of the little (5th) finger." [HPO:curators] -synonym: "Abnormality of the innermost bone little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the innermost bone pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the innermost bone pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the innermost bone little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the innermost bone pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the innermost bone pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024570 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger created_by: peter @@ -61021,9 +61165,9 @@ creation_date: 2008-12-22T02:00:20Z id: HP:0009152 name: Abnormality of the epiphyses of the 5th finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger." [HPO:sdoelken] -synonym: "Abnormality of end part of little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of end part of pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of end part of pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024569 is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand @@ -61034,9 +61178,9 @@ creation_date: 2008-12-22T02:07:27Z id: HP:0009153 name: Abnormality of the epiphysis of the proximal phalanx of the 5th finger def: "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curator] -synonym: "Abnormality of end part of the innermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of end part of the innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of end part of the innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024568 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger @@ -61050,9 +61194,9 @@ name: Triangular epiphysis of the proximal phalanx of the 5th finger alt_id: HP:0009156 def: "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 5th finger" EXACT layperson [] -synonym: "Triangular end part of the innermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021518 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger @@ -61065,9 +61209,9 @@ id: HP:0009155 name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Angel-shaped epiphysis of the proximal phalanx of the 5th finger" RELATED [] -synonym: "Cone-shaped end part of the innermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of the proximal phalanx of the little finger" RELATED [] xref: UMLS:C4020783 xref: UMLS:C4020784 @@ -61081,9 +61225,9 @@ creation_date: 2008-12-22T05:50:39Z id: HP:0009157 name: Ivory epiphysis of the proximal phalanx of the 5th finger def: "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the innermost bone of little finger" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of little finger" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ivory epiphysis of the proximal phalanx of the little finger" RELATED layperson [] xref: UMLS:C4020782 xref: UMLS:C4024567 @@ -61097,9 +61241,9 @@ creation_date: 2008-12-22T05:50:39Z id: HP:0009158 name: Enlarged epiphysis of the proximal phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the innermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024566 is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger created_by: peter @@ -61109,9 +61253,9 @@ creation_date: 2008-12-22T05:50:39Z id: HP:0009159 name: Small epiphysis of the proximal phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the innermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024565 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger @@ -61123,9 +61267,9 @@ creation_date: 2008-12-22T05:50:39Z id: HP:0009160 name: Absent epiphysis of the proximal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger." [HPO:curators] -synonym: "Absent end part of the innermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024564 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger @@ -61139,10 +61283,10 @@ name: Aplasia/Hypoplasia of the middle phalanx of the 5th finger alt_id: HP:0006242 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] synonym: "Absent/hypoplastic middle phalanx of 5th finger" EXACT [] -synonym: "Absent/small middle bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834034 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger @@ -61154,9 +61298,9 @@ id: HP:0009162 name: Absent middle phalanx of 5th finger alt_id: HP:0005774 def: "Absence of the middle phalanx of the little (5th) finger." [HPO:curators] -synonym: "Absent middle bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent middle bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent middle bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the middle phalanx of the 5th finger" EXACT [] xref: UMLS:C3277750 is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger @@ -61170,14 +61314,12 @@ id: HP:0009163 name: obsolete Abnormal form of the 5th finger is_obsolete: true consider: HP:0004207 -created_by: peter -creation_date: 2008-12-22T06:17:30Z [Term] id: HP:0009164 name: Abnormal calcification of the carpal bones alt_id: HP:0006154 -synonym: "Abnormal calcification of the wrist bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal calcification of the wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Carpal calcifications" EXACT [] xref: UMLS:C1968592 is_a: HP:0006257 ! Abnormality of carpal bone ossification @@ -61189,9 +61331,9 @@ creation_date: 2008-12-22T06:53:39Z id: HP:0009165 name: Stippling of the epiphysis of the distal phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the outermost bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of the outermost bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of the outermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024563 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger @@ -61203,9 +61345,9 @@ creation_date: 2008-12-29T02:07:42Z id: HP:0009166 name: Fragmentation of the epiphysis of the distal phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] -synonym: "Fragmentation of end part of the outermost bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of end part of the outermost bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of end part of the outermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024562 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger @@ -61217,9 +61359,9 @@ creation_date: 2008-12-29T02:14:33Z id: HP:0009167 name: Irregular epiphysis of the distal phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] -synonym: "Irregular end part of the outermost bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the outermost bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the outermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024561 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger @@ -61231,9 +61373,9 @@ creation_date: 2008-12-29T02:18:06Z id: HP:0009168 name: Bullet-shaped middle phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected." [HPO:curators] -synonym: "Bullet-shaped middle little finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped middle pinkie finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped middle pinky finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024560 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger @@ -61245,9 +61387,9 @@ creation_date: 2008-12-29T02:44:53Z id: HP:0009169 name: Broad middle phalanx of the 5th finger def: "Increased width of the middle phalanx of the 5th finger." [HPO:curators] -synonym: "Broad middle bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Broad middle bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Broad middle bone of pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide middle phalanx of the 5th finger" EXACT [] xref: UMLS:C4021517 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger @@ -61271,7 +61413,7 @@ creation_date: 2008-12-29T02:51:32Z id: HP:0009171 name: Triangular epiphyses of the metacarpals def: "A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals." [HPO:curators] -synonym: "Triangular end part of the long bone of hand" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Triangular end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024558 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010587 ! Triangular epiphyses @@ -61295,9 +61437,9 @@ creation_date: 2009-01-05T04:18:24Z id: HP:0009173 name: Curved middle phalanx of the 5th finger def: "Curved appearance of the middle phalanx of the 5th finger." [HPO:curators] -synonym: "Curved middle bone of little finger" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Curved middle bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Curved middle bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Curved middle bone of little finger" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Curved middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Curved middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024557 is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger @@ -61309,7 +61451,7 @@ creation_date: 2008-12-29T03:05:04Z id: HP:0009174 name: Abnormality of the epiphyses of the 4th finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger." [HPO:curators] -synonym: "Abnormality of the end part of the ring finger" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the end part of the ring finger" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024556 is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand @@ -61320,9 +61462,9 @@ creation_date: 2009-01-05T04:23:43Z id: HP:0009175 name: Patchy sclerosis of the middle phalanx of the 5th finger def: "Patchy increase in bone density of the middle phalanx of the 5th finger." [HPO:curators] -synonym: "Uneven increase in bone density in the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024555 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx @@ -61339,9 +61481,9 @@ alt_id: HP:0006025 alt_id: HP:0009235 def: "Fusion of the proximal and middle phalanges of the 5th finger." [HPO:curators] synonym: "Fifth finger symphalangism" EXACT [] -synonym: "Fused innermost and middle bones of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost and middle bones of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost and middle bones of pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost and middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost and middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost and middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Proximal 5th finger symphalangism" EXACT [] synonym: "Proximal fifth finger symphalangism" EXACT [] synonym: "Symphalangism of the proximal and middle phalanges of the 5th finger" EXACT [] @@ -61356,9 +61498,9 @@ creation_date: 2008-12-29T03:17:08Z id: HP:0009178 name: Symphalangism of middle phalanx of 5th finger def: "Fusion of the middle phalanx of the 5th finger with another bone." [HPO:curator] -synonym: "Fused middle bones of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused middle bones of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused middle bones of pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024554 is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger @@ -61371,9 +61513,9 @@ id: HP:0009179 name: Deviation of the 5th finger alt_id: HP:0006036 def: "Displacement of the 5th finger from its normal position." [HPO:sdoelken] -synonym: "Displaced little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Displaced pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Displaced pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Displaced little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Displaced pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Displaced pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Laterally displaced fifth finger" EXACT [] xref: UMLS:C4021515 is_a: HP:0004097 ! Deviation of finger @@ -61395,9 +61537,9 @@ creation_date: 2008-12-29T03:30:05Z id: HP:0009182 name: Triangular shaped middle phalanx of the 5th finger def: "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped middle little finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped middle pinkie finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped middle pinky finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024552 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger @@ -61453,9 +61595,9 @@ creation_date: 2008-12-29T04:18:00Z id: HP:0009187 name: Bracket epiphysis of the distal phalanx of the 5th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024549 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger @@ -61478,7 +61620,7 @@ creation_date: 2008-12-30T12:28:19Z id: HP:0009189 name: Fragmentation of the metacarpal epiphyses def: "Fragmented appearance of the epiphyses of the metacarpals." [HPO:curators] -synonym: "Fragmentation of end part of the long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024547 is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs is_a: HP:0005913 ! Abnormality of metacarpal epiphyses @@ -61489,7 +61631,7 @@ creation_date: 2008-12-30T02:03:34Z id: HP:0009190 name: Irregular epiphyses of the metacarpals def: "Irregular radiographic opacity of the epiphyses of the metacarpals." [HPO:curators] -synonym: "Irregular end part of the long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024546 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0005913 ! Abnormality of metacarpal epiphyses @@ -61500,7 +61642,7 @@ creation_date: 2008-12-30T02:03:34Z id: HP:0009191 name: Ivory epiphyses of the metacarpals def: "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the long bone of hands" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the long bone of hands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024545 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010583 ! Ivory epiphyses @@ -61512,10 +61654,10 @@ creation_date: 2008-12-30T02:03:34Z id: HP:0009192 name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [HPO:curators] -synonym: "Absent/small innermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small innermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small innermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024544 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger @@ -61540,7 +61682,7 @@ creation_date: 2008-12-30T02:03:34Z id: HP:0009194 name: Small epiphyses of the metacarpals def: "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024543 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010585 ! Small epiphyses @@ -61551,7 +61693,7 @@ creation_date: 2008-12-30T02:03:34Z id: HP:0009195 name: Epiphyseal stippling of the metacarpals def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals." [HPO:probinson] -synonym: "Speckled calcifications in end part of the long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the metacarpals" EXACT [] xref: UMLS:C4021514 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses @@ -61565,7 +61707,7 @@ id: HP:0009196 name: Absent metacarpal epiphyses alt_id: HP:0006013 def: "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals." [HPO:curators] -synonym: "Absent end part of the long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent metacarpal ossification center" EXACT [] xref: UMLS:C4021513 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses @@ -61577,9 +61719,9 @@ creation_date: 2008-12-30T02:03:34Z id: HP:0009197 name: Bracket epiphysis of the proximal phalanx of the 5th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the innermost bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the innermost bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the innermost bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024542 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger @@ -61592,9 +61734,9 @@ id: HP:0009198 name: Abnormality of the epiphysis of the distal phalanx of the 5th finger alt_id: HP:0004228 def: "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] -synonym: "Abnormality of end part of the innermost bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of end part of the innermost bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of end part of the innermost bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphysis of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021512 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger @@ -61607,9 +61749,9 @@ creation_date: 2009-01-05T04:41:32Z id: HP:0009199 name: Irregular epiphysis of the proximal phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] -synonym: "Irregular end part of the innermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the innermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the innermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024541 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger @@ -61632,9 +61774,9 @@ creation_date: 2009-01-05T05:10:13Z id: HP:0009201 name: Stippling of the epiphysis of the proximal phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the innnermost bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of the innnermost bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of the innnermost bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the innnermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the innnermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the innnermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024539 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger @@ -61646,9 +61788,9 @@ creation_date: 2009-01-05T05:11:42Z id: HP:0009202 name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] -synonym: "Fragmentation of end part of the innermost bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of end part of the innermost bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of end part of the innermost bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024538 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger @@ -61660,9 +61802,9 @@ creation_date: 2009-01-05T05:13:41Z id: HP:0009203 name: Absent epiphysis of the middle phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger." [HPO:curators] -synonym: "Absent end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024537 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger @@ -61674,9 +61816,9 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009204 name: Bracket epiphysis of the middle phalanx of the 5th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024536 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger @@ -61688,9 +61830,9 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009205 name: Cone-shaped epiphysis of the middle phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024535 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger @@ -61702,9 +61844,9 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009206 name: Enlarged epiphysis of the middle phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024534 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger @@ -61716,9 +61858,9 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009207 name: Fragmentation of the epiphysis of the middle phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] -synonym: "Fragmentation of end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024533 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger @@ -61730,9 +61872,9 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009208 name: Irregular epiphysis of the middle phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] -synonym: "Irregular end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024532 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger @@ -61744,9 +61886,9 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009209 name: Ivory epiphysis of the middle phalanx of the 5th finger def: "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the middle bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the middle bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the middle bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024531 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger @@ -61769,9 +61911,9 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009211 name: Small epiphysis of the middle phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024529 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger @@ -61783,9 +61925,9 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009212 name: Stippling of the epiphysis of the middle phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024528 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger @@ -61798,9 +61940,9 @@ id: HP:0009213 name: Triangular epiphysis of the middle phalanx of the 5th finger def: "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 5th finger" EXACT [] -synonym: "Triangular end part of the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021511 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger @@ -61812,7 +61954,7 @@ creation_date: 2009-01-05T05:22:18Z id: HP:0009214 name: Absent epiphysis of the middle phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger." [HPO:curators] -synonym: "Absent end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024527 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger @@ -61824,7 +61966,7 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009215 name: Bracket epiphysis of the middle phalanx of the 4th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024526 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger @@ -61836,7 +61978,7 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009216 name: Cone-shaped epiphysis of the middle phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024525 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger @@ -61848,7 +61990,7 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009217 name: Enlarged epiphysis of the middle phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024524 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger @@ -61860,7 +62002,7 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009218 name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] -synonym: "Fragmentation of end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024523 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger @@ -61872,7 +62014,7 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009219 name: Irregular epiphysis of the middle phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] -synonym: "Irregular end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024522 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger @@ -61884,7 +62026,7 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009220 name: Ivory epiphysis of the middle phalanx of the 4th finger def: "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the middle ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024521 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger @@ -61907,7 +62049,7 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009222 name: Small epiphysis of the middle phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024519 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger @@ -61919,7 +62061,7 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009223 name: Stippling of the epiphysis of the middle phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024518 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger @@ -61932,7 +62074,7 @@ id: HP:0009224 name: Triangular epiphysis of the middle phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 4th finger" EXACT [] -synonym: "Triangular end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021510 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger @@ -61944,9 +62086,9 @@ creation_date: 2009-01-05T05:23:59Z id: HP:0009225 name: Aplasia of the proximal phalanx of the 5th finger def: "Absence of the proximal phalanx of the little (5th) finger." [HPO:curators] -synonym: "Absent innermost bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent innermost bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent innermost bone of pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024517 is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger @@ -61959,9 +62101,9 @@ id: HP:0009226 name: Short proximal phalanx of the 5th finger def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the fifth finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 5th finger" EXACT [] -synonym: "Short innermost little finger bone" EXACT [http://orcid.org/0000-0001-5208-3432] -synonym: "Short innermost pinkie finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short innermost pinky finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short innermost little finger bone" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Short innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanx of the fifth finger" EXACT layperson [] xref: UMLS:C4021509 is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger @@ -61974,9 +62116,9 @@ creation_date: 2009-01-05T06:01:34Z id: HP:0009227 name: Broad proximal phalanx of the 5th finger def: "Increased width of the proximal phalanx of the 5th finger." [HPO:curators] -synonym: "Broad innermost little finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Broad innermost pinkie finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Broad innermost pinky finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide proximal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021508 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger @@ -61989,9 +62131,9 @@ creation_date: 2009-01-05T06:11:33Z id: HP:0009228 name: Bullet-shaped proximal phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected." [HPO:curators] -synonym: "Bullet-shaped innermost little finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped innermost pinkie finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped innermost pinky finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024516 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger @@ -62003,9 +62145,9 @@ creation_date: 2009-01-05T06:11:33Z id: HP:0009229 name: Curved proximal phalanx of the 5th finger def: "Curved appearance of the proximal phalanx of the 5th finger." [HPO:curators] -synonym: "Curved innermost bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Curved innermost bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Curved innermost bone of pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024515 is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger @@ -62028,9 +62170,9 @@ creation_date: 2009-01-05T06:11:33Z id: HP:0009231 name: Patchy sclerosis of the proximal phalanx of the 5th finger def: "Patchy increase in bone density of the proximal phalanx of the 5th finger." [HPO:curators] -synonym: "Uneven increase in bone density in the innermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024513 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx @@ -62043,9 +62185,9 @@ creation_date: 2009-01-05T06:11:33Z id: HP:0009232 name: Symphalangism affecting the proximal phalanx of the 5th finger def: "Fusion of the proximal phalanx of the 5th finger with another bone." [HPO:curators] -synonym: "Fused innermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024512 is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger @@ -62057,9 +62199,9 @@ creation_date: 2009-01-05T06:11:33Z id: HP:0009233 name: Triangular shaped proximal phalanx of the 5th finger def: "Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped innermost little finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped innermost pinkie finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped innermost pinky finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024511 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger @@ -62071,9 +62213,9 @@ creation_date: 2009-01-05T06:11:33Z id: HP:0009234 name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal def: "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal." [HPO:curators] -synonym: "Fused innermost bone of little finger with 5th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost bone of pinkie finger with 5th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost bone of pinky finger with 5th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of little finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost bone of pinkie finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost bone of pinky finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024510 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger @@ -62085,9 +62227,9 @@ creation_date: 2009-01-05T06:19:01Z id: HP:0009236 name: Rhomboid or triangular shaped 5th finger proximal phalanx def: "Rhomboid or triangular shaped 5th (little) finger proximal phalanx." [HPO:curators] -synonym: "Rhomboid or triangular shaped innermost bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Rhomboid or triangular shaped innermost bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Rhomboid or triangular shaped innermost bone of pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Rhomboid or triangular shaped innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Rhomboid or triangular shaped innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Rhomboid or triangular shaped innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024509 is_a: HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger created_by: doelkens @@ -62114,8 +62256,8 @@ synonym: "Short fifth finger" EXACT layperson [] synonym: "Short fifth fingers" EXACT layperson [] synonym: "Short little finger" EXACT layperson [] synonym: "Short phalanges of the little finger" EXACT [] -synonym: "Short pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1842878 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009381 ! Short finger @@ -62126,9 +62268,9 @@ creation_date: 2009-01-05T06:54:07Z id: HP:0009238 name: Aplasia of the 5th finger def: "Absent 5th (little) finger." [HPO:curators] -synonym: "Absent little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024508 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009380 ! Aplasia of the fingers @@ -62138,10 +62280,10 @@ creation_date: 2009-01-05T07:02:48Z [Term] id: HP:0009239 name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger -synonym: "Absent/small outermost bone of little finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/small outermost bone of pinkie finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/small outermost bone of pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost bone of pinky finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024507 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger @@ -62152,10 +62294,10 @@ creation_date: 2009-01-05T07:25:50Z id: HP:0009240 name: Broad distal phalanx of the 5th finger def: "Increased width of the distal phalanx of the 5th finger." [HPO:curators] -synonym: "Broad outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024506 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger @@ -62167,9 +62309,9 @@ creation_date: 2009-01-05T07:25:50Z id: HP:0009241 name: Bullet-shaped distal phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected." [HPO:curators] -synonym: "Bullet-shaped outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024505 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger @@ -62192,9 +62334,9 @@ creation_date: 2009-01-05T07:25:50Z id: HP:0009243 name: Patchy sclerosis of the distal phalanx of the 5th finger def: "Patchy increase in bone density of the distal phalanx of the 5th finger." [HPO:curators] -synonym: "Uneven increase in bone density in the outermost bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the outermost bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the outermost bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024503 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx @@ -62210,9 +62352,9 @@ alt_id: HP:0006250 alt_id: HP:0009176 def: "Fusion of the terminal/distal and middle phalanges of the 5th finger." [HPO:curators] synonym: "Fifth finger distal interphalangeal joint symphalangism" EXACT [] -synonym: "Fused end and middle bones of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused end and middle bones of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused end and middle bones of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused end and middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused end and middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused end and middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fusion of the terminal and middle phalanges of the 5th finger" RELATED layperson [] synonym: "Symphalangism of the distal and middle phalanges of the 5th finger" EXACT [] synonym: "Symphalangism of the terminal and middle phalanges of the 5th finger" EXACT [] @@ -62228,9 +62370,9 @@ creation_date: 2009-01-05T07:25:50Z id: HP:0009245 name: Triangular shaped distal phalanx of the 5th finger def: "Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024502 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger @@ -62242,9 +62384,9 @@ creation_date: 2009-01-05T07:25:50Z id: HP:0009246 name: Aplasia of the distal phalanx of the 5th finger def: "Absence of the distal phalanx of the little (5th) finger." [HPO:curators] -synonym: "Absent outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024501 is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger @@ -62255,7 +62397,7 @@ creation_date: 2009-01-05T07:27:52Z [Term] id: HP:0009247 name: Abnormality of the epiphysis of the middle phalanx of the 4th finger -synonym: "Abnormality of the end part of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024500 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger @@ -62266,7 +62408,7 @@ creation_date: 2009-01-07T11:29:14Z [Term] id: HP:0009248 name: Abnormality of the epiphysis of the proximal phalanx of the 4th finger -synonym: "Abnormality of the end part of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024499 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger @@ -62277,7 +62419,7 @@ creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009249 name: Abnormality of the epiphysis of the distal phalanx of the 4th finger -synonym: "Abnormality of the end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024498 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger @@ -62289,7 +62431,7 @@ creation_date: 2009-01-07T12:04:09Z id: HP:0009250 name: Absent epiphysis of the distal phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger." [HPO:curators] -synonym: "Absent end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024497 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger @@ -62301,7 +62443,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009251 name: Bracket epiphysis of the distal phalanx of the 4th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024496 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger @@ -62313,7 +62455,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009252 name: Cone-shaped epiphysis of the distal phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024495 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger @@ -62325,7 +62467,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009253 name: Enlarged epiphysis of the distal phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024494 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger @@ -62337,7 +62479,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009254 name: Fragmentation of the epiphysis of the distal phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] -synonym: "Fragmentation of end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024493 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger @@ -62349,7 +62491,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009255 name: Irregular epiphysis of the distal phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] -synonym: "Irregular end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024492 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger @@ -62361,7 +62503,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009256 name: Ivory epiphysis of the distal phalanx of the 4th finger def: "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the outermost ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024491 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger @@ -62384,7 +62526,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009258 name: Small epiphysis of the distal phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024489 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger @@ -62396,7 +62538,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009259 name: Stippling of the epiphysis of the distal phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] -synonym: "Speckled calcifications in the end part of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024488 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger @@ -62409,7 +62551,7 @@ id: HP:0009260 name: Triangular epiphysis of the distal phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 4th finger" EXACT [] -synonym: "Triangular end part of the outermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021507 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger @@ -62421,7 +62563,7 @@ creation_date: 2009-01-07T12:07:34Z id: HP:0009261 name: Absent epiphysis of the proximal phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger." [HPO:curators] -synonym: "Absent end part of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024487 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger @@ -62435,7 +62577,7 @@ name: Bracket epiphysis of the proximal phalanx of the 4th finger alt_id: HP:0004200 def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] synonym: "Bracket proximal epiphysis of the ring finger" EXACT [] -synonym: "Bracket shaped end part of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021506 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger @@ -62447,7 +62589,7 @@ creation_date: 2009-01-07T12:12:59Z id: HP:0009263 name: Cone-shaped epiphysis of the proximal phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024486 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger @@ -62459,7 +62601,7 @@ creation_date: 2009-01-07T12:12:59Z id: HP:0009264 name: Enlarged epiphysis of the proximal phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024485 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger @@ -62471,7 +62613,7 @@ creation_date: 2009-01-07T12:12:59Z id: HP:0009265 name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] -synonym: "Fragmentation of end part of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024484 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger @@ -62483,7 +62625,7 @@ creation_date: 2009-01-07T12:12:59Z id: HP:0009266 name: Irregular epiphysis of the proximal phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] -synonym: "Irregular end part of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024483 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger @@ -62495,7 +62637,7 @@ creation_date: 2009-01-07T12:12:59Z id: HP:0009267 name: Ivory epiphysis of the proximal phalanx of the 4th finger def: "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the innermost ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024482 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger @@ -62518,7 +62660,7 @@ creation_date: 2009-01-07T12:12:59Z id: HP:0009269 name: Small epiphysis of the proximal phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024480 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger @@ -62530,7 +62672,7 @@ creation_date: 2009-01-07T12:12:59Z id: HP:0009270 name: Stippling of the epiphysis of the proximal phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the innermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024479 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger @@ -62543,7 +62685,7 @@ id: HP:0009271 name: Triangular epiphysis of the proximal phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 4th finger" EXACT [] -synonym: "Triangular end part of the innermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021505 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger @@ -62555,8 +62697,8 @@ creation_date: 2009-01-07T12:12:59Z id: HP:0009272 name: Aplasia/Hypoplasia of the 4th finger def: "A small/hypoplastic or absent/aplastic 4th (ring) finger." [HPO:curators] -synonym: "Absent/small ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024478 is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers @@ -62567,7 +62709,7 @@ creation_date: 2009-01-07T04:01:26Z id: HP:0009273 name: Deviation of the 4th finger def: "Displacement of the 4th finger from its normal position." [HPO:curators] -synonym: "Deviation of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Deviation of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024477 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004188 ! Abnormality of the 4th finger @@ -62623,7 +62765,7 @@ creation_date: 2009-01-07T04:10:39Z id: HP:0009278 name: Ulnar deviation of the 4th finger def: "Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger)." [HPO:sdoelken] -synonym: "Ulnar deviation of the ring finger" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Ulnar deviation of the ring finger" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024474 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009465 ! Ulnar deviation of finger @@ -62634,7 +62776,7 @@ creation_date: 2009-01-07T04:24:53Z id: HP:0009279 name: Radial deviation of the 4th finger def: "Displacement of the 4th finger towards the radial side (i.e., towards the thumb)." [HPO:sdoelken] -synonym: "Radial deviation of the ring finger" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Radial deviation of the ring finger" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024473 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009466 ! Radial deviation of finger @@ -62659,7 +62801,7 @@ creation_date: 2009-01-07T04:28:08Z id: HP:0009281 name: Aplasia of the 4th finger def: "Absent 4th finger." [HPO:curators] -synonym: "Absent ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024472 is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009380 ! Aplasia of the fingers @@ -62669,7 +62811,7 @@ creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009282 name: Abnormality of the distal phalanx of the 4th finger -synonym: "Abnormality of the outermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024471 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger created_by: doelkens @@ -62679,7 +62821,7 @@ creation_date: 2009-01-07T04:42:40Z id: HP:0009283 name: Abnormality of the middle phalanx of the 4th finger alt_id: HP:0004204 -synonym: "Abnormal middle bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal middle bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the middle phalanx of the ring finger" EXACT layperson [] xref: UMLS:C4021501 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger @@ -62690,7 +62832,7 @@ creation_date: 2009-01-07T04:42:40Z id: HP:0009284 name: Abnormality of the proximal phalanx of the 4th finger alt_id: HP:0004199 -synonym: "Abnormal innermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanx of the ring finger" EXACT layperson [] xref: UMLS:C4021500 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger @@ -62701,7 +62843,7 @@ creation_date: 2009-01-07T04:42:40Z id: HP:0009285 name: Curved phalanges of the 4th finger def: "Curved appearance of the phalanges of the 4th (ring) finger." [HPO:curators] -synonym: "Curved ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024470 is_a: HP:0004095 ! Curved fingers is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger @@ -62713,7 +62855,7 @@ creation_date: 2009-01-08T03:44:14Z id: HP:0009286 name: Curved distal phalanx of the 4th finger def: "Curved appearance of the distal phalanx of the 4th (ring) finger." [HPO:curators] -synonym: "Curved outermost ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024469 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger @@ -62725,7 +62867,7 @@ creation_date: 2009-01-08T03:46:28Z id: HP:0009287 name: Curved middle phalanx of the 4th finger def: "Curved appearance of the middle phalanx of the 4th (ring) finger." [HPO:curators] -synonym: "Curved middle ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Curved middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024468 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger @@ -62736,7 +62878,7 @@ creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009288 name: Curved proximal phalanx of the 4th finger -synonym: "Curved innermost ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024467 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger @@ -62747,8 +62889,8 @@ creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009289 name: Aplasia/Hypoplasia of the distal phalanx of the 4th finger -synonym: "Absent/small outermost ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024466 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger @@ -62761,7 +62903,7 @@ name: Short distal phalanx of the 4th finger def: "Hypoplastic/small distal phalanx of the fourth finger." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 4th finger" EXACT [] synonym: "Short distal phalanx of the fourth finger" EXACT [] -synonym: "Short outermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021499 is_a: HP:0009280 ! Short 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger @@ -62773,7 +62915,7 @@ creation_date: 2009-01-08T03:59:28Z id: HP:0009291 name: Aplasia of the distal phalanx of the 4th finger def: "Absence of the distal phalanx of the ring (4th) finger." [HPO:curators] -synonym: "Absent outermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024465 is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger @@ -62785,8 +62927,8 @@ creation_date: 2009-01-08T04:00:27Z id: HP:0009292 name: Broad distal phalanx of the 4th finger def: "Increased width of the distal phalanx of the 4th finger." [HPO:curators] -synonym: "Broad outermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024464 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger @@ -62798,7 +62940,7 @@ creation_date: 2009-01-08T04:41:33Z id: HP:0009293 name: Broad middle phalanx of the 4th finger def: "Increased width of the middle phalanx of the 4th finger." [HPO:curators] -synonym: "Broad middle bone of the 4th finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad middle bone of the 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024463 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger @@ -62810,7 +62952,7 @@ creation_date: 2009-01-08T04:59:22Z id: HP:0009294 name: Absent middle phalanx of 4th finger def: "Absence of the middle phalanx of the ring (4th) finger." [HPO:curators] -synonym: "Absent middle bone of 4th finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bone of 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the middle phalanx of the 4th finger" EXACT [] xref: UMLS:C4021498 is_a: HP:0009281 ! Aplasia of the 4th finger @@ -62827,7 +62969,7 @@ alt_id: HP:0004206 def: "Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of ring finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 4th finger" EXACT [] -synonym: "Short middle bone of 4th finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short middle bone of 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of ring finger" EXACT [] xref: UMLS:C4021497 is_a: HP:0005819 ! Short middle phalanx of finger @@ -62840,7 +62982,7 @@ creation_date: 2009-01-08T04:11:35Z id: HP:0009296 name: Bullet-shaped middle phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected." [HPO:curators] -synonym: "Bullet-shaped middle bone of the 4th finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of the 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024462 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger @@ -62863,7 +63005,7 @@ creation_date: 2009-01-08T04:59:22Z id: HP:0009298 name: Aplasia of the proximal phalanx of the 4th finger def: "Absence of the proximal phalanx of the ring (4th) finger." [HPO:curators] -synonym: "Absent innermost ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024460 is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger @@ -62874,8 +63016,8 @@ creation_date: 2009-01-08T04:22:16Z [Term] id: HP:0009299 name: Aplasia/Hypoplasia of the middle phalanx of the 4th finger -synonym: "Absent/small middle ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024459 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger @@ -62885,8 +63027,8 @@ creation_date: 2009-01-08T04:27:22Z [Term] id: HP:0009300 name: Aplasia/Hypoplasia of the proximal phalanx of the 4th finger -synonym: "Absent/small innermost ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020658 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger @@ -62898,7 +63040,7 @@ id: HP:0009301 name: Short proximal phalanx of the 4th finger def: "Hypoplastic/small proximal phalanx of the fourth finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 4th finger" EXACT [] -synonym: "Short innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Short innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Short proximal phalanx of the fourth finger" EXACT [] xref: UMLS:C4021496 is_a: HP:0009280 ! Short 4th finger @@ -62911,7 +63053,7 @@ creation_date: 2009-01-08T04:29:38Z id: HP:0009302 name: Bullet-shaped distal phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected." [HPO:curators] -synonym: "Bullet-shaped outermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024458 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger @@ -62934,7 +63076,7 @@ creation_date: 2009-01-08T04:41:33Z id: HP:0009304 name: Patchy sclerosis of the distal phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger." [HPO:probinson] -synonym: "Uneven increase in bone density in the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024456 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx @@ -62949,7 +63091,7 @@ name: Distal/middle symphalangism of 4th finger alt_id: HP:0009474 alt_id: HP:0009475 def: "Fusion of the terminal/distal and middle phalanges of the 4th finger." [HPO:curators] -synonym: "Fused outermost and middle bones of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost and middle bones of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 4th finger" EXACT [] xref: UMLS:C4021495 is_a: HP:0001204 ! Distal symphalangism of hands @@ -62962,7 +63104,7 @@ creation_date: 2009-01-08T04:41:33Z id: HP:0009306 name: Triangular shaped distal phalanx of the 4th finger def: "Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024455 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger @@ -62974,7 +63116,7 @@ creation_date: 2009-01-08T04:41:33Z id: HP:0009307 name: Patchy sclerosis of the middle phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger." [HPO:probinson] -synonym: "Uneven increase in bone density in the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024454 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx @@ -62987,7 +63129,7 @@ creation_date: 2009-01-08T04:59:22Z id: HP:0009308 name: Symphalangism of middle phalanx of 4th finger def: "Fusion of the middle phalanx of the 4th finger with another bone." [HPO:sdoelken] -synonym: "Fused middle bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024453 is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger @@ -62999,7 +63141,7 @@ creation_date: 2009-01-08T04:59:22Z id: HP:0009309 name: Triangular shaped middle phalanx of the 4th finger def: "Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Triangular shaped middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024452 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger @@ -63011,7 +63153,7 @@ creation_date: 2009-01-08T04:59:22Z id: HP:0009310 name: Broad proximal phalanx of the 4th finger def: "Increased width of the proximal phalanx of the 4th finger." [HPO:curators] -synonym: "Broad innermost ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020660 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger @@ -63023,7 +63165,7 @@ creation_date: 2009-01-08T05:11:48Z id: HP:0009311 name: Bullet-shaped proximal phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected." [HPO:curators] -synonym: "Bullet-shaped innermost ring finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024451 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger @@ -63046,7 +63188,7 @@ creation_date: 2009-01-08T05:11:48Z id: HP:0009313 name: Patchy sclerosis of the proximal phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger." [HPO:probinson] -synonym: "Uneven increase in bone density in the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024449 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx @@ -63059,7 +63201,7 @@ creation_date: 2009-01-08T05:11:48Z id: HP:0009314 name: Symphalangism affecting the proximal phalanx of the 4th finger def: "Fusion of the proximal phalanx of the 4th finger with another bone." [HPO:curators] -synonym: "Fused innermost bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024448 is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger @@ -63071,8 +63213,8 @@ creation_date: 2009-01-08T05:11:48Z id: HP:0009315 name: Triangular shaped proximal phalanx of the 4th finger def: "Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped innermost bone of the 4th finger" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Triangular shaped innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Triangular shaped innermost bone of the 4th finger" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Triangular shaped innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024447 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger @@ -63087,7 +63229,7 @@ alt_id: HP:0004155 def: "Abnormality of the phalanges of the 3rd (middle) finger." [HPO:curators] synonym: "Abnormality of 3rd finger phalanges" EXACT [] synonym: "Abnormality of middle finger phalanges" EXACT [] -synonym: "Abnormality of the middle finger bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormality of the middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021494 is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0005918 ! Abnormality of phalanx of finger @@ -63110,8 +63252,8 @@ creation_date: 2009-01-12T11:02:27Z id: HP:0009318 name: Aplasia/Hypoplasia of the 3rd finger def: "A small/hypoplastic or absent/aplastic 3rd (middle) finger." [HPO:curators] -synonym: "Absent/small middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024446 is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers @@ -63134,7 +63276,7 @@ creation_date: 2009-01-12T11:05:43Z id: HP:0009320 name: Abnormality of the epiphyses of the 3rd finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger." [HPO:curators] -synonym: "Abnormality of end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024445 is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand @@ -63145,7 +63287,7 @@ creation_date: 2009-01-12T11:07:00Z id: HP:0009321 name: Absent epiphysis of the middle phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger." [HPO:curators] -synonym: "Absent end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024444 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger @@ -63157,7 +63299,7 @@ creation_date: 2009-01-12T11:15:44Z id: HP:0009322 name: Bracket epiphysis of the middle phalanx of the 3rd finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024443 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger @@ -63169,7 +63311,7 @@ creation_date: 2009-01-12T11:15:44Z id: HP:0009323 name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024442 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger @@ -63181,7 +63323,7 @@ creation_date: 2009-01-12T11:15:44Z id: HP:0009324 name: Enlarged epiphysis of the middle phalanx of the 3rd finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024441 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger @@ -63193,7 +63335,7 @@ creation_date: 2009-01-12T11:15:44Z id: HP:0009325 name: Fragmentation of the epiphysis of the middle phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] -synonym: "Fragmentation of end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024440 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger @@ -63205,7 +63347,7 @@ creation_date: 2009-01-12T11:15:44Z id: HP:0009326 name: Irregular epiphysis of the middle phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] -synonym: "Irregular end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024439 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger @@ -63217,7 +63359,7 @@ creation_date: 2009-01-12T11:15:44Z id: HP:0009327 name: Ivory epiphysis of the middle phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024438 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger @@ -63242,7 +63384,7 @@ creation_date: 2009-01-12T11:15:44Z id: HP:0009329 name: Small epiphysis of the middle phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024437 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger @@ -63254,7 +63396,7 @@ creation_date: 2009-01-12T11:15:44Z id: HP:0009330 name: Stippling of the epiphysis of the middle phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024436 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger @@ -63267,7 +63409,7 @@ id: HP:0009331 name: Triangular epiphysis of the middle phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 3rd finger" EXACT [] -synonym: "Triangular end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021490 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger @@ -63278,7 +63420,7 @@ creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009332 name: Abnormality of the epiphysis of the distal phalanx of the 3rd finger -synonym: "Abnormality of the end part of the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024435 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger @@ -63289,7 +63431,7 @@ creation_date: 2009-01-12T11:16:06Z [Term] id: HP:0009333 name: Abnormality of the epiphysis of the proximal phalanx of the 3rd finger -synonym: "Abnormality of the end part of the innermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024434 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger @@ -63300,7 +63442,7 @@ creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009334 name: Abnormality of the epiphysis of the middle phalanx of the 3rd finger -synonym: "Abnormality of the end part of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024433 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger @@ -63312,7 +63454,7 @@ creation_date: 2009-01-12T11:16:44Z id: HP:0009335 name: Absent epiphysis of the distal phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger." [HPO:curators] -synonym: "Absent end part of the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024432 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger @@ -63324,7 +63466,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009336 name: Bracket epiphysis of the distal phalanx of the 3rd finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024431 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger @@ -63336,7 +63478,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009337 name: Cone-shaped epiphysis of the distal phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024430 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger @@ -63348,7 +63490,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009338 name: Enlarged epiphysis of the distal phalanx of the 3rd finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the outermost bone of the 3rd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024429 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger @@ -63360,7 +63502,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009339 name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] -synonym: "Fragmentation of end part of the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024428 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger @@ -63372,7 +63514,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009340 name: Irregular epiphysis of the distal phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] -synonym: "Irregular end part of the outermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024427 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger @@ -63384,7 +63526,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009341 name: Ivory epiphysis of the distal phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the outermost middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024426 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger @@ -63396,7 +63538,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009342 name: Pseudoepiphysis of the distal phalanx of the 3rd finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] -synonym: "Pseudoepiphysis of the outermost bone of the middle finger" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Pseudoepiphysis of the outermost bone of the middle finger" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024425 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger @@ -63408,7 +63550,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009343 name: Small epiphysis of the distal phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the outermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024424 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger @@ -63420,7 +63562,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009344 name: Stippling of the epiphysis of the distal phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the outermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024423 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger @@ -63433,7 +63575,7 @@ id: HP:0009345 name: Triangular epiphysis of the distal phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 3rd finger" EXACT [] -synonym: "Triangular end part of the outermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021489 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger @@ -63445,7 +63587,7 @@ creation_date: 2009-01-12T11:18:33Z id: HP:0009346 name: Absent epiphysis of the proximal phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger." [HPO:curators] -synonym: "Absent end part of innermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024422 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger @@ -63457,7 +63599,7 @@ creation_date: 2009-01-12T11:19:03Z id: HP:0009347 name: Bracket epiphysis of the proximal phalanx of the 3rd finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of innermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024421 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger @@ -63469,7 +63611,7 @@ creation_date: 2009-01-12T11:19:03Z id: HP:0009348 name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the innermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024420 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger @@ -63482,7 +63624,7 @@ id: HP:0009349 name: Enlarged epiphysis of the proximal phalanx of the 3rd finger alt_id: HP:0004171 def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of innermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large epiphysis of proximal middle-finger phalanx" EXACT [] xref: UMLS:C4021488 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger @@ -63495,7 +63637,7 @@ creation_date: 2009-01-12T11:19:03Z id: HP:0009350 name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] -synonym: "Fragmentation of end part of innermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024419 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger @@ -63507,7 +63649,7 @@ creation_date: 2009-01-12T11:19:03Z id: HP:0009351 name: Irregular epiphysis of the proximal phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] -synonym: "Irregular end part of innermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024418 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger @@ -63519,7 +63661,7 @@ creation_date: 2009-01-12T11:19:03Z id: HP:0009352 name: Ivory epiphysis of the proximal phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the innermost middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024417 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger @@ -63542,7 +63684,7 @@ creation_date: 2009-01-12T11:19:03Z id: HP:0009354 name: Small epiphysis of the proximal phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of innermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024415 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger @@ -63554,7 +63696,7 @@ creation_date: 2009-01-12T11:19:03Z id: HP:0009355 name: Stippling of the epiphysis of the proximal phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] -synonym: "Speckled calcifications in end part of innermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024414 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger @@ -63567,7 +63709,7 @@ id: HP:0009356 name: Triangular epiphysis of the proximal phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger" EXACT [] -synonym: "Triangular end part of innermost long bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021487 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger @@ -63580,7 +63722,7 @@ id: HP:0009357 name: Abnormality of the distal phalanx of the 3rd finger alt_id: HP:0004179 synonym: "Abnormality of terminal phalanx of middle-finger" EXACT [] -synonym: "Abnormality of the outermost bone of the 3rd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021486 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger created_by: doelkens @@ -63590,7 +63732,7 @@ creation_date: 2009-01-12T11:40:58Z id: HP:0009358 name: Abnormality of the proximal phalanx of the 3rd finger alt_id: HP:0004167 -synonym: "Abnormal innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of proximal middle-finger phalanx" EXACT [] xref: UMLS:C4021485 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger @@ -63618,7 +63760,7 @@ creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009372 name: Type A2 brachydactyly -synonym: "Short index fingers and second toes" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Short index fingers and second toes" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:C537089 xref: UMLS:C1832702 is_a: HP:0009370 ! Type A brachydactyly @@ -63638,9 +63780,9 @@ creation_date: 2009-01-13T10:50:19Z id: HP:0009374 name: Broad phalanges of the 5th finger def: "Increased width of the phalanges of the 5th finger." [HPO:curators] -synonym: "Broad little finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Broad pinkie finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Broad pinky finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024412 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009768 ! Broad phalanges of the hand @@ -63651,9 +63793,9 @@ creation_date: 2009-01-13T10:55:04Z id: HP:0009375 name: Bullet-shaped phalanges of the 5th finger def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] -synonym: "Bullet-shaped little finger bones" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Bullet-shaped pinkie finger bones" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Bullet-shaped pinky finger bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Bullet-shaped little finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Bullet-shaped pinkie finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Bullet-shaped pinky finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024411 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand @@ -63664,10 +63806,10 @@ creation_date: 2009-01-13T10:58:05Z id: HP:0009376 name: Aplasia/Hypoplasia of the phalanges of the 5th finger def: "Aplasia/Hypoplasia of the phalanges of the 5th finger." [HPO:curators] -synonym: "Absent/small little finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/small pinkie finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/small pinky finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pinky finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024410 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand @@ -63679,9 +63821,9 @@ id: HP:0009377 name: Patchy sclerosis of 5th finger phalanx def: "Uneven increase in bone density of one or more of the phalanges of the 5th finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 5th finger" EXACT [] -synonym: "Uneven increase in bone density in little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021484 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx @@ -63692,9 +63834,9 @@ creation_date: 2009-01-13T12:00:02Z id: HP:0009378 name: Triangular shaped phalanges of the 5th finger def: "Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped little finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped pinkie finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped pinky finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024409 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand @@ -63705,9 +63847,9 @@ creation_date: 2009-01-13T12:00:35Z id: HP:0009379 name: Rhomboid or triangular shaped 5th finger distal phalanx def: "Rhomboid or triangular shaped 5th (little) finger distal phalanx." [HPO:curators] -synonym: "Rhomboid or triangular shaped little finger bone" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Rhomboid or triangular shaped pinkie finger bone" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Rhomboid or triangular shaped pinky finger bone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Rhomboid or triangular shaped little finger bone" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Rhomboid or triangular shaped pinkie finger bone" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Rhomboid or triangular shaped pinky finger bone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024408 is_a: HP:0009245 ! Triangular shaped distal phalanx of the 5th finger created_by: doelkens @@ -63736,7 +63878,7 @@ synonym: "Hypoplastic digits" EXACT [] synonym: "Hypoplastic fingers" EXACT [] synonym: "Hypoplastic/small fingers" EXACT [] synonym: "Short finger" EXACT layperson [] -synonym: "Stubby finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Stubby finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stubby fingers" EXACT layperson [] xref: SNOMEDCT_US:249765007 xref: UMLS:C0239594 @@ -63751,9 +63893,9 @@ creation_date: 2009-01-13T01:07:38Z id: HP:0009382 name: Absent epiphyses of the 5th finger def: "Absence of one or more epiphyses of the 5th finger." [HPO:curators] -synonym: "Absent end part of little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024407 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand @@ -63764,9 +63906,9 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009383 name: Bracket epiphyses of the 5th finger def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024406 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand @@ -63777,9 +63919,9 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009384 name: Cone-shaped epiphyses of the 5th finger def: "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the little finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the pinkie finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the pinky finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024405 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand @@ -63790,9 +63932,9 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009385 name: Enlarged epiphyses of the 5th finger def: "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the little finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the pinkie finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the pinky finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024404 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand @@ -63803,9 +63945,9 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009386 name: Fragmentation of the epiphyses of the 5th finger def: "Fragmented appearance of the epiphyses of the 5th finger." [HPO:curators] -synonym: "Fragmentation of the end part of the little finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the pinkie finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the pinky finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024403 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand @@ -63816,9 +63958,9 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009387 name: Irregular epiphyses of the 5th finger def: "Irregular radiographic opacity of the epiphyses of the 5th finger." [HPO:curators] -synonym: "Irregular end part of the little finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the pinkie finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the pinky finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024402 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand @@ -63829,9 +63971,9 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009388 name: Ivory epiphyses of the 5th finger def: "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024401 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand @@ -63853,9 +63995,9 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009390 name: Small epiphyses of the 5th finger def: "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024399 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand @@ -63866,9 +64008,9 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009391 name: Stippling of the epiphyses of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger." [HPO:curators] -synonym: "Speckled calcifications in end part of little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024398 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges @@ -63880,9 +64022,9 @@ id: HP:0009392 name: Triangular epiphyses of the 5th finger def: "A triangular appearance of the epiphyses of the 5th finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 5th finger" EXACT [] -synonym: "Triangular end part of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021483 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand @@ -63893,7 +64035,7 @@ creation_date: 2009-01-13T01:19:03Z id: HP:0009393 name: Absent epiphyses of the 4th finger def: "Absence of one or more epiphyses of the 4th finger." [HPO:curators] -synonym: "Absent end part of the ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024397 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand @@ -63904,7 +64046,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009394 name: Bracket epiphyses of the 4th finger def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of ring finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024396 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand @@ -63915,7 +64057,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009395 name: Cone-shaped epiphyses of the 4th finger def: "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the ring finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024395 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand @@ -63926,7 +64068,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009396 name: Enlarged epiphyses of the 4th finger def: "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the ring finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024394 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand @@ -63937,7 +64079,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009397 name: Fragmentation of the epiphyses of the 4th finger def: "Fragmented appearance of the epiphyses of the 4th finger." [HPO:curators] -synonym: "Fragmentation of the end part of the ring finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024393 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand @@ -63948,7 +64090,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009398 name: Irregular epiphyses of the 4th finger def: "Irregular radiographic opacity of the epiphyses of the 4th finger." [HPO:curators] -synonym: "Irregular end part of the ring finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024392 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand @@ -63959,7 +64101,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009399 name: Ivory epiphyses of the 4th finger def: "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024391 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand @@ -63981,7 +64123,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009401 name: Small epiphyses of the 4th finger def: "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024389 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand @@ -63992,7 +64134,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009402 name: Stippling of the epiphyses of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger." [HPO:curators] -synonym: "Speckled calcifications in end part of ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024388 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges @@ -64004,7 +64146,7 @@ id: HP:0009403 name: Triangular epiphyses of the 4th finger def: "A triangular appearance of the epiphyses of the 4th finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 4th finger" EXACT [] -synonym: "Triangular end part of ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021482 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand @@ -64015,7 +64157,7 @@ creation_date: 2009-01-13T01:59:12Z id: HP:0009404 name: Broad phalanges of the 4th finger def: "Increased width of the phalanges of the 4th finger." [HPO:curators] -synonym: "Broad bones of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad bones of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024387 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009768 ! Broad phalanges of the hand @@ -64026,7 +64168,7 @@ creation_date: 2009-01-13T02:37:29Z id: HP:0009405 name: Bullet-shaped phalanges of the 4th finger def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] -synonym: "Bullet-shaped of bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped of bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024386 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand @@ -64038,7 +64180,7 @@ id: HP:0009406 name: Patchy sclerosis of 4th finger phalanx def: "Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 4th finger" EXACT [] -synonym: "Uneven increase in bone density in ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021481 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx @@ -64049,7 +64191,7 @@ creation_date: 2009-01-13T02:37:29Z id: HP:0009407 name: Triangular shaped phalanges of the 4th finger def: "Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped bone of ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024385 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand @@ -64059,8 +64201,8 @@ creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009408 name: Aplasia/Hypoplasia of the phalanges of the 4th finger -synonym: "Absent/small ring finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped ring finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024384 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand @@ -64071,7 +64213,7 @@ creation_date: 2009-01-13T02:37:29Z id: HP:0009410 name: Absent epiphyses of the 3rd finger def: "Absence of the epiphyses of the 3rd finger." [HPO:curators] -synonym: "Absent end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024383 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand @@ -64082,7 +64224,7 @@ creation_date: 2009-01-14T02:01:59Z id: HP:0009411 name: Bracket epiphyses of the 3rd finger def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024382 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand @@ -64093,7 +64235,7 @@ creation_date: 2009-01-14T02:01:59Z id: HP:0009412 name: Cone-shaped epiphyses of the 3rd finger def: "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] -synonym: "Cone-shaped end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024381 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand @@ -64104,7 +64246,7 @@ creation_date: 2009-01-14T02:01:59Z id: HP:0009413 name: Enlarged epiphyses of the 3rd finger def: "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024380 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand @@ -64115,7 +64257,7 @@ creation_date: 2009-01-14T02:01:59Z id: HP:0009414 name: Fragmentation of the epiphyses of the 3rd finger def: "Fragmented appearance of the epiphyses of the 3rd finger." [HPO:curators] -synonym: "Fragmentation of end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024379 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand @@ -64126,7 +64268,7 @@ creation_date: 2009-01-14T02:01:59Z id: HP:0009415 name: Irregular epiphyses of the 3rd finger def: "Irregular radiographic opacity of the epiphyses of the 3rd finger." [HPO:curators] -synonym: "Irregular end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024378 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand @@ -64137,7 +64279,7 @@ creation_date: 2009-01-14T02:01:59Z id: HP:0009416 name: Ivory epiphyses of the 3rd finger def: "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024377 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand @@ -64161,7 +64303,7 @@ creation_date: 2009-01-14T02:01:59Z id: HP:0009418 name: Small epiphyses of the 3rd finger def: "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024376 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand @@ -64172,7 +64314,7 @@ creation_date: 2009-01-14T02:01:59Z id: HP:0009419 name: Stippling of the epiphyses of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger." [HPO:curators] -synonym: "Speckled calcifications in end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024375 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges @@ -64184,7 +64326,7 @@ id: HP:0009420 name: Triangular epiphyses of the 3rd finger def: "A triangular appearance of the epiphyses of the 3rd finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 3rd finger" EXACT [] -synonym: "Triangular end part of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021479 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand @@ -64194,8 +64336,8 @@ creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009421 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger -synonym: "Absent/small outermost middle finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost middle finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024374 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger @@ -64206,7 +64348,7 @@ creation_date: 2009-01-14T03:16:46Z id: HP:0009422 name: Broad distal phalanx of the 3rd finger def: "Increased width of the distal phalanx of the 3rd finger." [HPO:curators] -synonym: "Broad outermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024373 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger @@ -64218,7 +64360,7 @@ creation_date: 2009-01-14T03:16:46Z id: HP:0009423 name: Bullet-shaped distal phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected." [HPO:curators] -synonym: "Bullet-shaped outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024372 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger @@ -64243,7 +64385,7 @@ creation_date: 2009-01-14T03:16:46Z id: HP:0009425 name: Patchy sclerosis of the distal phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the third finger." [HPO:probinson] -synonym: "Uneven increase in bone density in the outermost bone of the 3rd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024371 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx @@ -64258,7 +64400,7 @@ name: Distal/middle symphalangism of 3rd finger alt_id: HP:0009479 alt_id: HP:0009480 def: "Fusion of the terminal/distal and middle phalanges of the 3rd finger." [HPO:curators] -synonym: "Fused outermost and middle bones of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost and middle bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 3rd finger" EXACT [] xref: UMLS:C4021477 is_a: HP:0001204 ! Distal symphalangism of hands @@ -64271,7 +64413,7 @@ creation_date: 2009-01-14T03:16:46Z id: HP:0009427 name: Triangular shaped distal phalanx of the 3rd finger def: "Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024370 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger @@ -64283,7 +64425,7 @@ creation_date: 2009-01-14T03:16:46Z id: HP:0009428 name: Curved distal phalanx of the 3rd finger def: "Curved appearance of the distal phalanx of the 3rd finger." [HPO:curators] -synonym: "Curved outermost bone of the 3rd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024369 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger @@ -64295,7 +64437,7 @@ creation_date: 2009-01-14T03:16:46Z id: HP:0009429 name: Aplasia of the distal phalanx of the 3rd finger def: "Absence of the distal phalanx of the middle (3rd) finger." [HPO:curators] -synonym: "Absent of the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024368 is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger @@ -64308,7 +64450,7 @@ id: HP:0009430 name: Broad middle phalanx of the 3rd finger alt_id: HP:0004178 def: "Increased width of the middle phalanx of the 3rd finger." [HPO:curators] -synonym: "Broad middle bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad middle phalanx of middle-finger" EXACT [] xref: UMLS:C4021476 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger @@ -64321,7 +64463,7 @@ creation_date: 2009-01-14T03:41:31Z id: HP:0009431 name: Bullet-shaped middle phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected." [HPO:curators] -synonym: "Bullet-shaped middle bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024367 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger @@ -64333,7 +64475,7 @@ creation_date: 2009-01-14T03:41:31Z id: HP:0009432 name: Curved middle phalanx of the 3rd finger def: "Curved appearance of the middle phalanx of the 3rd (middle) finger." [HPO:curators] -synonym: "Curved middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024366 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger @@ -64356,7 +64498,7 @@ creation_date: 2009-01-14T03:41:31Z id: HP:0009434 name: Patchy sclerosis of the middle phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the third finger." [HPO:probinson] -synonym: "Uneven increase in bone density in the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024364 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx @@ -64369,7 +64511,7 @@ creation_date: 2009-01-14T03:41:31Z id: HP:0009435 name: Symphalangism of middle phalanx of 3rd finger def: "Fusion of the middle phalanx of the 3rd finger with another bone." [HPO:curators] -synonym: "Fused middle bone of middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024363 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger @@ -64381,7 +64523,7 @@ creation_date: 2009-01-14T03:41:31Z id: HP:0009436 name: Triangular shaped middle phalanx of the 3rd finger def: "Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped middle bone of the middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024362 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger @@ -64392,8 +64534,8 @@ creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009437 name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger -synonym: "Absent/small middle bone of the middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of the middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024361 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger @@ -64405,7 +64547,7 @@ id: HP:0009438 name: Absent middle phalanx of 3rd finger alt_id: HP:0004173 def: "Absence of the middle phalanx of the middle (3rd) finger." [HPO:sdoelken] -synonym: "Absent middle bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle phalanx of middle finger" EXACT [] synonym: "Aplasia of the middle phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021475 @@ -64422,7 +64564,7 @@ alt_id: HP:0004177 alt_id: HP:0006212 def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of the 3rd finger" EXACT [] -synonym: "Short middle bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021474 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger @@ -64435,7 +64577,7 @@ id: HP:0009440 name: Broad phalanges of the 3rd finger alt_id: HP:0004166 def: "Increased width of the phalanges of the 3rd finger." [HPO:curators] -synonym: "Wide bones of middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wide bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad middle finger phalanges" EXACT [] xref: UMLS:C4021473 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger @@ -64447,7 +64589,7 @@ creation_date: 2009-01-14T04:09:01Z id: HP:0009441 name: Bullet-shaped phalanges of the 3rd finger def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] -synonym: "Bullet-shaped bones of middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024360 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand @@ -64458,7 +64600,7 @@ creation_date: 2009-01-14T04:09:01Z id: HP:0009442 name: Curved phalanges of the 3rd finger def: "Curved appearance of the phalanges of the 3rd finger." [HPO:curators] -synonym: "Curved bones of middle finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Curved bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024359 is_a: HP:0004095 ! Curved fingers is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger @@ -64485,7 +64627,7 @@ alt_id: HP:0004160 def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger." [HPO:probinson] synonym: "Patchy sclerosis of middle finger phalanges" EXACT [] synonym: "Patchy sclerosis of the phalanges of the 3rd finger" EXACT [] -synonym: "Uneven increase in bone density in middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021471 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx @@ -64496,7 +64638,7 @@ creation_date: 2009-01-14T04:09:01Z id: HP:0009445 name: Symphalangism of the 3rd finger def: "Fusion of two or more bones of the 3rd finger." [HPO:curators] -synonym: "Fused middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024358 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009700 ! Finger symphalangism @@ -64508,7 +64650,7 @@ creation_date: 2009-01-14T04:09:01Z id: HP:0009446 name: Triangular shaped phalanges of the 3rd finger def: "Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped bone of the middle finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Triangular shaped bone of the middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024357 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand @@ -64522,8 +64664,8 @@ alt_id: HP:0004156 alt_id: HP:0004158 alt_id: HP:0004164 alt_id: HP:0004165 -synonym: "Absent/small middle finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic middle finger phalanges" EXACT [] synonym: "Short middle finger phalanges" EXACT [] synonym: "Small middle finger phalanges" EXACT [] @@ -64538,22 +64680,18 @@ id: HP:0009448 name: obsolete Aplasia of the phalanges of the 3rd finger is_obsolete: true consider: HP:0009447 -created_by: doelkens -creation_date: 2009-01-14T04:11:21Z [Term] id: HP:0009449 name: obsolete Hypoplastic/small phalanges of the 3rd finger is_obsolete: true replaced_by: HP:0009447 -created_by: doelkens -creation_date: 2009-01-14T04:11:21Z [Term] id: HP:0009450 name: Broad proximal phalanx of the 3rd finger def: "Increased width of the proximal phalanx of the 3rd finger." [HPO:curators] -synonym: "Broad innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024355 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger @@ -64565,7 +64703,7 @@ creation_date: 2009-01-14T04:33:41Z id: HP:0009451 name: Bullet-shaped proximal phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected." [HPO:curators] -synonym: "Bullet-shaped innermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024354 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger @@ -64577,7 +64715,7 @@ creation_date: 2009-01-14T04:33:41Z id: HP:0009452 name: Curved proximal phalanx of the 3rd finger def: "Curved appearance of the proximal phalanx of the 3rd finger." [HPO:curators] -synonym: "Curved innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Curved innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024353 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger @@ -64600,7 +64738,7 @@ creation_date: 2009-01-14T04:33:41Z id: HP:0009454 name: Patchy sclerosis of the proximal phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the third finger." [HPO:probinson] -synonym: "Uneven increase in bone density in the innermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024351 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx @@ -64613,7 +64751,7 @@ creation_date: 2009-01-14T04:33:41Z id: HP:0009455 name: Symphalangism affecting the proximal phalanx of the 3rd finger def: "Fusion of the proximal phalanx of the 3rd finger with another bone." [HPO:curators] -synonym: "Fused innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024350 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger @@ -64625,7 +64763,7 @@ creation_date: 2009-01-14T04:33:41Z id: HP:0009456 name: Triangular shaped proximal phalanx of the 3rd finger def: "Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Triangular shaped innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024349 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger @@ -64636,8 +64774,8 @@ creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009457 name: Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger -synonym: "Absent/small innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024348 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger @@ -64648,7 +64786,7 @@ creation_date: 2009-01-14T04:34:45Z id: HP:0009458 name: Aplasia of the proximal phalanx of the 3rd finger def: "Absence of the proximal phalanx of the 3rd finger." [HPO:curators] -synonym: "Absent innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024347 is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger @@ -64663,7 +64801,7 @@ alt_id: HP:0004169 alt_id: HP:0004170 def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 3rd finger" EXACT [] -synonym: "Short innermost bone of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal middle-finger phalanx" EXACT [] synonym: "Short proximal phalanx of the third finger" EXACT [] synonym: "Small proximal middle-finger phalanx" EXACT [] @@ -64678,7 +64816,7 @@ creation_date: 2009-01-14T04:35:28Z id: HP:0009460 name: Aplasia of the 3rd finger def: "Absent 3rd finger." [HPO:curators] -synonym: "Absent middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024346 is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009380 ! Aplasia of the fingers @@ -64703,7 +64841,7 @@ creation_date: 2009-01-14T04:57:43Z id: HP:0009462 name: Radial deviation of the 3rd finger def: "Displacement of the 3rd finger towards the radial side (i.e., towards the thumb)." [HPO:sdoelken] -synonym: "Inward turned middle finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Inward turned middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024345 is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009466 ! Radial deviation of finger @@ -64791,7 +64929,7 @@ name: Deviation of the 2nd finger alt_id: HP:0004101 def: "Displacement of the 2nd finger from its normal position." [HPO:curators] synonym: "Deviated index finger" EXACT [] -synonym: "Displaced index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Displaced index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021468 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004100 ! Abnormality of the 2nd finger @@ -64802,7 +64940,7 @@ creation_date: 2009-01-15T09:42:36Z id: HP:0009469 name: Contracture of the distal interphalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:probinson] -synonym: "Contracture of the outermost hinge joint of the 3rd finger" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Contracture of the outermost hinge joint of the 3rd finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024344 is_a: HP:0009319 ! Joint contracture of the 3rd finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers @@ -64863,7 +65001,7 @@ id: HP:0009477 name: Proximal/middle symphalangism of 4th finger alt_id: HP:0009476 def: "Fusion of the proximal and middle phalanges of the 4th finger." [HPO:sdoelken] -synonym: "Fused innermost and middle bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost and middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024342 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger @@ -64875,7 +65013,7 @@ creation_date: 2009-01-15T10:24:03Z id: HP:0009478 name: Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal def: "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal." [HPO:curators] -synonym: "Fused innermost bone of ring finger with 4th long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of ring finger with 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024341 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger @@ -64888,7 +65026,7 @@ id: HP:0009482 name: Proximal/middle symphalangism of 3rd finger alt_id: HP:0009481 def: "Fusion of the proximal and middle phalanges of the 3rd finger." [HPO:curators] -synonym: "Fused of innermost and middle bones of middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused of innermost and middle bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024340 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger @@ -64900,7 +65038,7 @@ creation_date: 2009-01-15T10:29:08Z id: HP:0009483 name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal def: "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal." [HPO:curators] -synonym: "Fused innermost bones of middle finger with middle long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bones of middle finger with middle long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024339 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger @@ -64912,7 +65050,7 @@ creation_date: 2009-01-15T10:29:08Z id: HP:0009484 name: Deviation of the hand or of fingers of the hand def: "Displacement of the hand or of fingers of the hand from their normal position." [HPO:curators] -synonym: "Displaced hand or fingers of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Displaced hand or fingers of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024338 is_a: HP:0001155 ! Abnormality of the hand created_by: doelkens @@ -64956,7 +65094,7 @@ creation_date: 2009-01-15T10:51:52Z id: HP:0009488 name: Absent epiphyses of the 2nd finger def: "Absence of the epiphyses of the 2nd finger." [HPO:curators] -synonym: "Absent end part of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024336 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand @@ -64968,7 +65106,7 @@ id: HP:0009489 name: Bracket epiphyses of the 2nd finger alt_id: HP:0004109 def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket-epiphyses of index finger" EXACT [] xref: UMLS:C4021466 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger @@ -64980,7 +65118,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009490 name: Cone-shaped epiphyses of the 2nd finger def: "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024335 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand @@ -64991,7 +65129,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009491 name: Enlarged epiphyses of the 2nd finger def: "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024334 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand @@ -65002,7 +65140,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009492 name: Fragmentation of the epiphyses of the 2nd finger def: "Fragmented appearance of the epiphyses of the 2nd finger." [HPO:curators] -synonym: "Fragmentation of end part of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024333 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand @@ -65013,7 +65151,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009493 name: Irregular epiphyses of the 2nd finger def: "Irregular radiographic opacity of the epiphyses of the 2nd finger." [HPO:curators] -synonym: "Irregular end part of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024332 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand @@ -65024,7 +65162,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009494 name: Ivory epiphyses of the 2nd finger def: "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024331 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand @@ -65049,7 +65187,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009496 name: Small epiphyses of the 2nd finger def: "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024330 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand @@ -65060,7 +65198,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009497 name: Stippling of the epiphyses of the 2nd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024329 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges @@ -65071,7 +65209,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009498 name: Triangular epiphyses of the 2nd finger def: "A triangular appearance of the epiphyses of the 2nd finger of the hand." [HPO:curators] -synonym: "Triangular end part of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024328 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand @@ -65082,7 +65220,7 @@ creation_date: 2009-01-16T01:07:16Z id: HP:0009499 name: Abnormality of the epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004146 -synonym: "Abnormality of the end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Epiphyseal abnormality of terminal index finger phalanx" EXACT [] xref: UMLS:C4021464 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger @@ -65095,7 +65233,7 @@ creation_date: 2009-01-16T01:08:35Z id: HP:0009500 name: Abnormality of the epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004135 -synonym: "Abnormality of end part of the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Epiphyseal abnormality of middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021463 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger @@ -65108,7 +65246,7 @@ creation_date: 2009-01-16T01:08:35Z id: HP:0009501 name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004127 -synonym: "Abnormality of end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Epiphyseal abnormality of the proximal phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021462 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger @@ -65122,7 +65260,7 @@ id: HP:0009502 name: Absent epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004147 def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger." [HPO:curators] -synonym: "Absent end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent ossification/absent epiphysis of terminal index finger phalanx" EXACT [] xref: UMLS:C4021461 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger @@ -65135,7 +65273,7 @@ creation_date: 2009-01-16T01:11:04Z id: HP:0009503 name: Bracket epiphysis of the distal phalanx of the 2nd finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024327 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger @@ -65147,7 +65285,7 @@ creation_date: 2009-01-16T01:11:04Z id: HP:0009504 name: Cone-shaped epiphysis of the distal phalanx of the 2nd finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] -synonym: "Cone-shaped end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024326 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger @@ -65159,7 +65297,7 @@ creation_date: 2009-01-16T01:11:04Z id: HP:0009505 name: Enlarged epiphysis of the distal phalanx of the 2nd finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024325 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger @@ -65171,7 +65309,7 @@ creation_date: 2009-01-16T01:11:04Z id: HP:0009506 name: Fragmentation of the epiphysis of the distal phalanx of the 2nd finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] -synonym: "Fragmentation of end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024324 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger @@ -65183,7 +65321,7 @@ creation_date: 2009-01-16T01:11:04Z id: HP:0009507 name: Irregular epiphysis of the distal phalanx of the 2nd finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] -synonym: "Irregular end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024323 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger @@ -65196,7 +65334,7 @@ id: HP:0009508 name: Ivory epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004148 def: "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ivory epiphysis of terminal index finger phalanx" EXACT [] xref: UMLS:C4021460 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger @@ -65220,7 +65358,7 @@ creation_date: 2009-01-16T01:11:04Z id: HP:0009510 name: Small epiphysis of the distal phalanx of the 2nd finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024321 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger @@ -65232,7 +65370,7 @@ creation_date: 2009-01-16T01:11:04Z id: HP:0009511 name: Stippling of the epiphysis of the distal phalanx of the 2nd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] -synonym: "Speckled calcifications in end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024320 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger @@ -65244,7 +65382,7 @@ creation_date: 2009-01-16T01:11:04Z id: HP:0009512 name: Triangular epiphysis of the distal phalanx of the 2nd finger def: "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] -synonym: "Triangular end part of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024319 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger @@ -65257,7 +65395,7 @@ id: HP:0009513 name: Absent epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004136 synonym: "Absent epiphyses of middle phalanx of index finger" EXACT [] -synonym: "Missing end part of the middle long bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Missing end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021459 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65268,7 +65406,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009514 name: Bracket epiphysis of the middle phalanx of the 2nd finger -synonym: "Bracket shaped end part of the middle long bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024318 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65280,7 +65418,7 @@ creation_date: 2009-01-16T01:12:17Z id: HP:0009515 name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004137 -synonym: "Cone-shaped end part of the middle long bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of middle phalanx of index finger" EXACT [] xref: UMLS:C4021458 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger @@ -65292,7 +65430,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009516 name: Enlarged epiphysis of the middle phalanx of the 2nd finger -synonym: "Enlarged end part of the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024317 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65303,7 +65441,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009517 name: Fragmentation of the epiphysis of the middle phalanx of the 2nd finger -synonym: "Fragmentation of end part of the middle long bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024316 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65314,7 +65452,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009518 name: Irregular epiphysis of the middle phalanx of the 2nd finger -synonym: "Irregular end part of the middle long bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024315 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65325,7 +65463,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009519 name: Ivory epiphysis of the middle phalanx of the 2nd finger -synonym: "Increased bone density of end part of the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024314 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65346,7 +65484,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009521 name: Small epiphysis of the middle phalanx of the 2nd finger -synonym: "Small end part of the innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024312 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65357,7 +65495,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009522 name: Stippling of the epiphysis of the middle phalanx of the 2nd finger -synonym: "Speckled calcifications in end part of the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024311 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65368,7 +65506,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009523 name: Triangular epiphysis of the middle phalanx of the 2nd finger -synonym: "Triangular end part of the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024310 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger @@ -65379,7 +65517,7 @@ creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009524 name: Absent epiphysis of the proximal phalanx of the 2nd finger -synonym: "Absent end part of innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024309 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger @@ -65392,7 +65530,7 @@ id: HP:0009525 name: Bracket epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004120 synonym: "Bracket epiphyses of proximal index finger phalanx" EXACT [] -synonym: "Bracket shaped end part of innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021457 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger @@ -65404,7 +65542,7 @@ creation_date: 2009-01-16T01:12:34Z id: HP:0009526 name: Cone-shaped epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004128 -synonym: "Cone-shaped end part of innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021456 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger @@ -65417,7 +65555,7 @@ creation_date: 2009-01-16T01:12:34Z id: HP:0009527 name: Enlarged epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004129 -synonym: "Enlarged end part of innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021455 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger @@ -65429,7 +65567,7 @@ creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009528 name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger -synonym: "Fragmentation of end part of innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024308 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger @@ -65440,7 +65578,7 @@ creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009529 name: Irregular epiphysis of the proximal phalanx of the 2nd finger -synonym: "Irregular end part of innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024307 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger @@ -65451,7 +65589,7 @@ creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009530 name: Ivory epiphysis of the proximal phalanx of the 2nd finger -synonym: "Increased bone density of end part of the innermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024306 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger @@ -65472,7 +65610,7 @@ creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009532 name: Small epiphysis of the proximal phalanx of the 2nd finger -synonym: "Small end part of proximal long bond of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of proximal long bond of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024304 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger @@ -65483,7 +65621,7 @@ creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009533 name: Stippling of the epiphysis of the proximal phalanx of the 2nd finger -synonym: "Speckled calcifications in end part of the innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024303 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger @@ -65495,7 +65633,7 @@ creation_date: 2009-01-16T01:12:34Z id: HP:0009534 name: Triangular epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004130 -synonym: "Triangular end part of innermost long bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021454 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger @@ -65509,7 +65647,7 @@ id: HP:0009535 name: Aplasia of the 2nd finger alt_id: HP:0004106 def: "Absent 2nd (index) finger." [HPO:curators] -synonym: "Absent index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent index finger phalanges" EXACT [] synonym: "Aplasia of the index finger" EXACT [] xref: UMLS:C4021453 @@ -65585,7 +65723,7 @@ id: HP:0009541 name: Abnormality of the phalanges of the 2nd finger alt_id: HP:0004105 def: "Abnormality of the phalanges of the 2nd (index) finger." [HPO:curators] -synonym: "Abnormal index finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of 2nd finger phalanges" EXACT [] xref: UMLS:C4021450 is_a: HP:0004100 ! Abnormality of the 2nd finger @@ -65599,7 +65737,7 @@ name: Abnormality of the distal phalanx of the 2nd finger alt_id: HP:0004111 alt_id: HP:0004140 synonym: "Abnormality of terminal index finger phalanx" EXACT [] -synonym: "Abnormality of the outermost bone of the 2nd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021449 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens @@ -65609,7 +65747,7 @@ creation_date: 2009-01-21T10:17:15Z id: HP:0009543 name: Abnormality of the middle phalanx of the 2nd finger alt_id: HP:0004131 -synonym: "Abnormal middle index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of middle 2nd finger phalanx" EXACT [] xref: UMLS:C4021448 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger @@ -65620,7 +65758,7 @@ creation_date: 2009-01-21T10:17:15Z id: HP:0009544 name: Abnormality of the proximal phalanx of the 2nd finger alt_id: HP:0004119 -synonym: "Abnormal innermost index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal 2nd finger phalanx" EXACT [] xref: UMLS:C4021447 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger @@ -65631,7 +65769,7 @@ creation_date: 2009-01-21T10:17:15Z id: HP:0009545 name: Symphalangism of the 2nd finger alt_id: HP:0004116 -synonym: "Fused index finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of index finger phalanges" EXACT [] xref: UMLS:C4021446 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger @@ -65645,7 +65783,7 @@ id: HP:0009546 name: Triangular shaped phalanges of the 2nd finger alt_id: HP:0004117 def: "Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular bones of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular bones of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular index finger phalanges" EXACT [] xref: UMLS:C4021445 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger @@ -65656,7 +65794,7 @@ creation_date: 2009-01-21T10:19:34Z id: HP:0009547 name: Broad phalanges of the 2nd finger alt_id: HP:0004118 -synonym: "Wide index finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad index finger phalanges" EXACT [] xref: UMLS:C4021444 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger @@ -65667,7 +65805,7 @@ creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009548 name: Bullet-shaped phalanges of the 2nd finger -synonym: "Bullet-shaped index finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024300 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens @@ -65676,7 +65814,7 @@ creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009549 name: Curved phalanges of the 2nd finger -synonym: "Curved index finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024299 is_a: HP:0004095 ! Curved fingers is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger @@ -65700,7 +65838,7 @@ id: HP:0009551 name: Patchy sclerosis of 2nd finger phalanx def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 2nd finger" EXACT [] -synonym: "Uneven increase in bone density in index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021442 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx @@ -65710,8 +65848,8 @@ creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009552 name: Aplasia/Hypoplasia of the phalanges of the 2nd finger -synonym: "Absent/small index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024298 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand @@ -65733,7 +65871,7 @@ creation_date: 2009-01-21T05:19:14Z id: HP:0009554 name: Projection of scalp hair onto lateral cheek def: "An tongue-like extension of hair towards the cheeks." [HPO:curators] -synonym: "Hair growing down to cheek" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hair growing down to cheek" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Projection of scalp hair onto lateral cheek" EXACT layperson [] xref: UMLS:C4024296 is_a: HP:0009553 ! Abnormality of the hairline @@ -65744,14 +65882,14 @@ creation_date: 2009-01-21T05:21:54Z id: HP:0009555 name: Hypoplasia of the pharynx def: "Underdevelopment of the pharynx." [HPO:curators] -synonym: "Decreased diameter of pharynx" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased length of pharynx" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of pharynx" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of pharynx" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of pharynx" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic pharynx" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small pharynx" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of pharynx" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased diameter of pharynx" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased length of pharynx" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of pharynx" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of pharynx" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of pharynx" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic pharynx" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small pharynx" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of pharynx" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4024295 xref: UMLS:C4280396 xref: UMLS:C4280397 @@ -65767,8 +65905,8 @@ id: HP:0009556 name: Absent tibia def: "Absence of the tibia." [HPO:probinson] subset: hposlim_core -synonym: "Absent shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the tibia" EXACT [] xref: UMLS:C3276744 is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia @@ -65779,8 +65917,8 @@ creation_date: 2009-01-27T06:09:44Z [Term] id: HP:0009557 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd finger -synonym: "Absent/small outermost index finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost index finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024294 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger @@ -65791,7 +65929,7 @@ creation_date: 2009-01-28T04:16:02Z id: HP:0009558 name: Broad distal phalanx of the 2nd finger def: "Increased width of the distal phalanx of the 2nd finger." [HPO:curators] -synonym: "Wide outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024293 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger @@ -65803,7 +65941,7 @@ creation_date: 2009-01-28T04:16:02Z id: HP:0009559 name: Bullet-shaped distal phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected." [HPO:curators] -synonym: "Bullet-shaped outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024292 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger @@ -65815,7 +65953,7 @@ creation_date: 2009-01-28T04:16:02Z id: HP:0009560 name: Curved distal phalanx of the 2nd finger def: "Curved appearance of the distal phalanx of the 2nd finger." [HPO:curators] -synonym: "Curved outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024291 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger @@ -65831,7 +65969,7 @@ alt_id: HP:0004142 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Acro-osteolysis of index finger" EXACT [] synonym: "Acro-osteolysis of terminal index finger phalanx" EXACT [] -synonym: "Osteolytic defects of the outermost bone of the 2nd finger" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Osteolytic defects of the outermost bone of the 2nd finger" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021441 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger @@ -65843,7 +65981,7 @@ creation_date: 2009-01-28T04:16:02Z id: HP:0009562 name: Patchy sclerosis of the distal phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the second finger." [HPO:probinson] -synonym: "Uneven increase in bone density in the outermost bone of the 2nd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024290 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx @@ -65858,7 +65996,7 @@ name: Distal/middle symphalangism of 2nd finger alt_id: HP:0009567 alt_id: HP:0009578 def: "Fusion of the terminal/distal and middle phalanges of the 2nd finger." [HPO:curators] -synonym: "Fused outermost and middle index finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost and middle index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 2nd finger" EXACT [] xref: UMLS:C4021440 is_a: HP:0001204 ! Distal symphalangism of hands @@ -65871,7 +66009,7 @@ creation_date: 2009-01-28T04:16:02Z id: HP:0009564 name: Triangular shaped distal phalanx of the 2nd finger def: "Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped outermost bone of the 2nd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024289 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger @@ -65884,7 +66022,7 @@ id: HP:0009565 name: Aplasia of the distal phalanx of the 2nd finger alt_id: HP:0004141 alt_id: HP:0005748 -synonym: "Absent outermost index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent terminal index finger phalanx" EXACT [] xref: UMLS:C4021439 is_a: HP:0009535 ! Aplasia of the 2nd finger @@ -65901,7 +66039,7 @@ def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the sec synonym: "Hypoplastic terminal index finger phalanx" EXACT [] synonym: "Hypoplastic/small distal phalanx of the 2nd finger" EXACT [] synonym: "Short distal phalanx of the second finger" EXACT [] -synonym: "Short outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short terminal index finger phalanx" EXACT [] xref: UMLS:C4021438 is_a: HP:0009536 ! Short 2nd finger @@ -65915,8 +66053,8 @@ id: HP:0009568 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger alt_id: HP:0006221 synonym: "Absent/hypoplastic middle phalanx of 2nd finger" EXACT [] -synonym: "Absent/small middle index finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle index finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic/aplastic middle phalanx of index finger" EXACT [] xref: UMLS:C1862144 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger @@ -65928,7 +66066,7 @@ creation_date: 2009-01-28T05:10:24Z id: HP:0009569 name: Broad middle phalanx of the 2nd finger def: "Increased width of the middle phalanx of the second finger." [HPO:sdoelken] -synonym: "Broad middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024288 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger @@ -65940,7 +66078,7 @@ creation_date: 2009-01-28T05:10:24Z id: HP:0009570 name: Bullet-shaped middle phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected." [HPO:curators] -synonym: "Bullet-shaped middle bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024287 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger @@ -65952,7 +66090,7 @@ creation_date: 2009-01-28T05:10:24Z id: HP:0009571 name: Curved middle phalanx of the 2nd finger def: "Curved appearance of the middle phalanx of the 2nd finger." [HPO:curators] -synonym: "Curved middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024286 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger @@ -65977,7 +66115,7 @@ creation_date: 2009-01-28T05:10:24Z id: HP:0009573 name: Patchy sclerosis of the middle phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the second finger." [HPO:probinson] -synonym: "Uneven increase in bone density in the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024285 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx @@ -65990,7 +66128,7 @@ creation_date: 2009-01-28T05:10:24Z id: HP:0009574 name: Symphalangism of middle phalanx of 2nd finger def: "Fusion of the middle phalanx of the 2nd finger with another bone." [HPO:curators] -synonym: "Fused middle bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024284 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger @@ -66002,7 +66140,7 @@ creation_date: 2009-01-28T05:10:24Z id: HP:0009575 name: Triangular shaped middle phalanx of the 2nd finger def: "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] -synonym: "Triangular shaped middle bone of index finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024283 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger @@ -66015,7 +66153,7 @@ id: HP:0009576 name: Absent middle phalanx of 2nd finger alt_id: HP:0005760 def: "Absence of the middle phalanx of the index (2nd) finger." [HPO:curators] -synonym: "Absent middle bone of index finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle phalanx of index finger" EXACT [] synonym: "Aplasia of the middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021436 @@ -66032,7 +66170,7 @@ alt_id: HP:0004133 def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger." [HPO:sdoelken] synonym: "Hypoplastic middle index finger phalanx" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 2nd finger" EXACT [] -synonym: "Short middle bone of index finger" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021435 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009536 ! Short 2nd finger @@ -66044,7 +66182,7 @@ creation_date: 2009-01-28T05:15:55Z id: HP:0009579 name: Proximal/middle symphalangism of the 2nd finger def: "Fusion of the proximal and middle phalanges of the 2nd finger." [HPO:curators] -synonym: "Fused innermost and middle index finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost and middle index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024282 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger @@ -66055,8 +66193,8 @@ creation_date: 2009-01-28T05:23:12Z [Term] id: HP:0009580 name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger -synonym: "Absent/small innermost index finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost index finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024281 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger @@ -66068,7 +66206,7 @@ id: HP:0009581 name: Broad proximal phalanx of the 2nd finger alt_id: HP:0004126 def: "Increased width of the proximal phalanx of the 2nd finger." [HPO:curators] -synonym: "Wide innermost bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad proximal index finger phalanx" EXACT [] xref: UMLS:C4021434 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger @@ -66081,7 +66219,7 @@ creation_date: 2009-01-28T05:26:39Z id: HP:0009582 name: Bullet-shaped proximal phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected." [HPO:curators] -synonym: "Bullet-shaped innermost bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024280 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger @@ -66093,7 +66231,7 @@ creation_date: 2009-01-28T05:26:39Z id: HP:0009583 name: Curved proximal phalanx of the 2nd finger def: "Curved appearance of the proximal phalanx of the 2nd finger." [HPO:curators] -synonym: "Curved innermost bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024279 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger @@ -66118,7 +66256,7 @@ creation_date: 2009-01-28T05:26:39Z id: HP:0009585 name: Patchy sclerosis of the proximal phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the second finger." [HPO:probinson] -synonym: "Uneven increase in bone density in innermost index finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024278 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx @@ -66131,7 +66269,7 @@ creation_date: 2009-01-28T05:26:39Z id: HP:0009586 name: Symphalangism affecting the proximal phalanx of the 2nd finger def: "Fusion of the proximal phalanx of the 2nd finger with another bone." [HPO:curators] -synonym: "Fused innermost bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024277 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger @@ -66145,7 +66283,7 @@ name: Triangular shaped proximal phalanx of the 2nd finger alt_id: HP:0004125 def: "Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular proximal index finger phalanx" EXACT [] -synonym: "Triangular shaped innermost bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021432 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger @@ -66250,7 +66388,7 @@ creation_date: 2009-01-28T11:12:19Z id: HP:0009596 name: Aplasia of the proximal phalanx of the 2nd finger def: "Absence of the proximal phalanx of the 2nd finger." [HPO:curators] -synonym: "Absent innermost bone of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024275 is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger @@ -66277,7 +66415,7 @@ creation_date: 2009-01-29T10:19:36Z id: HP:0009598 name: Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal def: "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal." [HPO:curators] -synonym: "Fused innermost bone of index finger with 2nd long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of index finger with 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024274 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger @@ -66291,7 +66429,7 @@ name: Abnormality of thumb epiphysis alt_id: HP:0004074 def: "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). -synonym: "Abnormality of end part of thumb long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphyses of the thumb" EXACT [] synonym: "Abnormality of thumb epiphyses" EXACT [] xref: UMLS:C4021429 @@ -66325,8 +66463,8 @@ def: "Hypoplastic/small or absent thumb." [HPO:probinson] synonym: "Absent or hypoplastic thumbs" EXACT [] synonym: "Absent/hypoplastic thumb" EXACT [] synonym: "Absent/hypoplastic thumbs" EXACT [] -synonym: "Absent/small thumb" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped thumb" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small thumb" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/hypoplasia of thumbs" EXACT [] synonym: "Aplastic/hypoplastic thumbs" EXACT [] synonym: "Hypoplastic to aplastic thumbs" EXACT [] @@ -66345,7 +66483,7 @@ name: Abnormality of thumb phalanx alt_id: HP:0004063 alt_id: HP:0004064 def: "A structural anomaly of one or more phalanges of the thumb." [HPO:probinson] -synonym: "Abnormality of the thumb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of thumb phalanges" EXACT [] xref: UMLS:C4021428 is_a: HP:0001172 ! Abnormality of the thumb @@ -66358,7 +66496,7 @@ id: HP:0009603 name: Deviation of the thumb alt_id: HP:0004062 def: "Displacement of the thumb from its normal position." [HPO:curators] -synonym: "Abnormal thumb placement" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal thumb placement" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Deviated thumb" EXACT [] synonym: "Displacement of the thumb" EXACT [] xref: UMLS:C3552414 @@ -66373,7 +66511,7 @@ name: Complete duplication of distal phalanx of the thumb alt_id: HP:0004084 alt_id: HP:0005784 def: "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side." [HPO:curators] -synonym: "Complete duplication of outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Double thumb distal phalanges" EXACT [] synonym: "Duplicated terminal phalanx of thumb" EXACT [] synonym: "Duplication of distal thumb phalanx" EXACT [] @@ -66390,7 +66528,7 @@ id: HP:0009608 name: Complete duplication of proximal phalanx of the thumb alt_id: HP:0004078 def: "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] -synonym: "Complete duplication of the innermost bone of the thumb" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024273 is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of thumb phalanx @@ -66403,7 +66541,7 @@ id: HP:0009609 name: Duplication of the 1st metacarpal def: "Partail or complete duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side. -synonym: "Partial/complete duplication of the 1st long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the 1st metacarpal" EXACT [] xref: UMLS:C4021426 is_a: HP:0010006 ! Duplication of the proximal phalanx of hand @@ -66422,7 +66560,7 @@ def: "Partial duplication of the distal phalanx of the thumb. Depending on the s synonym: "Bifid distal phalanx of thumb" EXACT [] synonym: "Bifid terminal phalanges of thumbs" EXACT [] synonym: "Incipient distal thumb phalanx duplication" EXACT [] -synonym: "Notched outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Notched terminal thumb phalanx" EXACT [] xref: UMLS:C1860162 is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb @@ -66435,7 +66573,7 @@ creation_date: 2009-01-29T03:48:49Z id: HP:0009612 name: Duplication of the distal phalanx of the thumb def: "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [HPO:sdoelken] -synonym: "Duplication of the outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the thumb" EXACT [] xref: UMLS:C4021425 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb @@ -66448,7 +66586,7 @@ creation_date: 2009-01-29T03:51:43Z id: HP:0009613 name: Duplication of the proximal phalanx of the thumb def: "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken] -synonym: "Notched innermost bone of thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched innermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the thumb" EXACT [] xref: UMLS:C4021424 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb @@ -66461,7 +66599,7 @@ creation_date: 2009-01-29T03:59:56Z id: HP:0009614 name: Bifid proximal phalanx of the thumb def: "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] -synonym: "Notched thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024272 is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of thumb phalanx @@ -66474,7 +66612,7 @@ id: HP:0009615 name: Complete duplication of the first metacarpal def: "Complete duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated. -synonym: "Complete duplication of the first long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024271 is_a: HP:0009609 ! Duplication of the 1st metacarpal is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand @@ -66486,7 +66624,7 @@ id: HP:0009616 name: Bifid first metacarpal def: "Partial duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape. -synonym: "Notched first long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "partial duplication of the first metacarpal" EXACT [] xref: UMLS:C4021423 is_a: HP:0009609 ! Duplication of the 1st metacarpal @@ -66500,7 +66638,7 @@ name: Abnormality of the distal phalanx of the thumb alt_id: HP:0004081 def: "Any anomaly of the distal phalanx of thumb." [HPO:probinson] synonym: "Abnormality of terminal thumb phalanx" EXACT [] -synonym: "Abnormality of the outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021422 is_a: HP:0009602 ! Abnormality of thumb phalanx created_by: doelkens @@ -66511,7 +66649,7 @@ id: HP:0009618 name: Abnormality of the proximal phalanx of the thumb alt_id: HP:0004076 def: "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Abnormal innermost thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of proximal thumb phalanx" EXACT [] xref: UMLS:C4021421 is_a: HP:0009602 ! Abnormality of thumb phalanx @@ -66523,16 +66661,12 @@ id: HP:0009620 name: obsolete Radial deviation of the thumb is_obsolete: true consider: HP:0009602 -created_by: doelkens -creation_date: 2009-01-29T04:35:09Z [Term] id: HP:0009621 name: obsolete Ulnar deviation of the thumb is_obsolete: true consider: HP:0009602 -created_by: doelkens -creation_date: 2009-01-29T04:35:51Z [Term] id: HP:0009622 @@ -66594,8 +66728,8 @@ creation_date: 2009-01-29T04:52:18Z id: HP:0009629 name: Aplasia/Hypoplasia of the proximal phalanx of the thumb def: "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Absent/small innermost thumb bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost thumb bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024268 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb @@ -66606,7 +66740,7 @@ creation_date: 2009-01-29T05:09:41Z id: HP:0009630 name: Broad proximal phalanx of the thumb def: "Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Broad innermost thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024267 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009844 ! Broad middle phalanx of finger @@ -66619,7 +66753,7 @@ creation_date: 2009-01-29T05:09:41Z id: HP:0009631 name: Bullet-shaped proximal phalanx of the thumb def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected." [HPO:probinson] -synonym: "Bullet-shaped innermost thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024266 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped thumb phalanx @@ -66631,7 +66765,7 @@ creation_date: 2009-01-29T05:09:41Z id: HP:0009632 name: Curved proximal phalanx of the thumb def: "A deviation from the normal straight shape of the proximal phalanx of the thumb." [HPO:probinson] -synonym: "Curved innermost thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024265 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009653 ! Curved thumb phalanx @@ -66656,7 +66790,7 @@ creation_date: 2009-01-29T05:09:41Z id: HP:0009634 name: Patchy sclerosis of the proximal phalanx of the thumb def: "An uneven increase in bone density of the proximal phalanx of the thumb." [HPO:probinson] -synonym: "Uneven increase in bone density in the innermost thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024264 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx @@ -66669,7 +66803,7 @@ creation_date: 2009-01-29T05:09:41Z id: HP:0009635 name: Synostosis of thumb phalanx def: "Fusion of a phalanx of the thumb with another bone." [HPO:probinson] -synonym: "Fusion of thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion of thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024263 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009849 ! Symphalangism of middle phalanx of finger @@ -66681,7 +66815,7 @@ id: HP:0009636 name: Triangular shaped proximal phalanx of the thumb alt_id: HP:0004080 def: "Triangular shaped proximal phalanx of the thumb." [HPO:probinson] -synonym: "Triangular innermost thumb bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Triangular innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular proximal thumb phalanx" EXACT [] xref: UMLS:C4021419 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb @@ -66696,7 +66830,7 @@ id: HP:0009637 name: Absent proximal phalanx of thumb alt_id: HP:0004077 def: "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] -synonym: "Absent innermost thumb bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent ossification/absent proximal thumb phalanx" EXACT [] synonym: "Aplasia of the proximal phalanx of the thumb" EXACT [] xref: UMLS:C4021418 @@ -66714,7 +66848,7 @@ alt_id: HP:0006073 def: "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the thumb" EXACT [] synonym: "Short proximal phalanges of thumb" EXACT [] -synonym: "Short proximal thumb bone" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Short proximal thumb bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short proximal thumb phalanx" EXACT [] xref: UMLS:C1855091 is_a: HP:0005819 ! Short middle phalanx of finger @@ -66728,7 +66862,7 @@ creation_date: 2009-01-29T05:11:02Z id: HP:0009640 name: Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal def: "Fusion of the proximal phalanx of the thumb with the 1st metacarpal." [HPO:probinson] -synonym: "Fusion of the innermost bone of the thumb with the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion of the innermost bone of the thumb with the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024262 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0006152 ! Proximal symphalangism of hands @@ -66740,8 +66874,8 @@ creation_date: 2009-01-29T05:17:08Z [Term] id: HP:0009641 name: Aplasia/Hypoplasia of the distal phalanx of the thumb -synonym: "Absent/small outermost thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024261 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb created_by: doelkens @@ -66753,10 +66887,10 @@ name: Broad distal phalanx of the thumb alt_id: HP:0004088 alt_id: HP:0006198 def: "Increased width of the distal phalanx of thumb." [HPO:sdoelken] -synonym: "Broad outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad terminal thumb phalanx" EXACT [] synonym: "Wide distal phalanx of thumb" EXACT [] -synonym: "Wide outermost bone of thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide outermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863402 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009836 ! Broad distal phalanx of finger @@ -66768,7 +66902,7 @@ creation_date: 2009-01-29T05:19:33Z id: HP:0009643 name: Bullet-shaped distal phalanx of the thumb def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected." [HPO:probinson] -synonym: "Bullet-shaped outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024260 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped thumb phalanx @@ -66780,7 +66914,7 @@ creation_date: 2009-01-29T05:19:33Z id: HP:0009644 name: Curved distal phalanx of the thumb def: "A deviation from the normal straight shape of the distal phalanx of the thumb." [HPO:probinson] -synonym: "Curved outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024259 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009653 ! Curved thumb phalanx @@ -66793,7 +66927,7 @@ id: HP:0009645 name: Osteolytic defect of the distal phalanx of the thumb def: "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb." [HPO:probinson] synonym: "Osteolytic defects of the distal phalanx of the thumb" EXACT [] -synonym: "Osteolytic defects of the outermost bone of the thumb" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Osteolytic defects of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021417 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defect of thumb phalanx @@ -66805,7 +66939,7 @@ creation_date: 2009-01-29T05:19:33Z id: HP:0009646 name: Patchy sclerosis of the distal phalanx of the thumb def: "An uneven increase in bone density of the distal phalanx of the thumb." [HPO:probinson] -synonym: "Uneven increase in bone density in the outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024258 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx @@ -66818,7 +66952,7 @@ creation_date: 2009-01-29T05:19:33Z id: HP:0009648 name: Triangular shaped distal phalanx of the thumb def: "Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:probinson] -synonym: "Triangular shaped outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024257 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped thumb phalanx @@ -66831,9 +66965,9 @@ id: HP:0009649 name: Aplasia of the distal phalanx of the thumb alt_id: HP:0004082 def: "Absence of the distal/terminal phalanx of the thumb." [HPO:curators] -synonym: "Absence of the outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absence of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent ossification/absent terminal thumb phalanx" EXACT [] -synonym: "Aplasia of the outermost bone of the thumb" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Aplasia of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021416 is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009659 ! Partial absence of thumb @@ -66849,7 +66983,7 @@ alt_id: HP:0004087 def: "Hypoplastic (short) distal phalanx of the thumb." [HPO:sdoelken] synonym: "Hypoplastic terminal thumb phalanx" EXACT [] synonym: "Hypoplastic/small distal phalanx of the thumb" EXACT [] -synonym: "Short outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short terminal thumb phalanx" EXACT [] synonym: "Short thumb terminal phalanx" EXACT [] synonym: "Small terminal thumb phalanx" EXACT [] @@ -66865,7 +66999,7 @@ id: HP:0009652 name: Bullet-shaped thumb phalanx def: "An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the thumb" EXACT [] -synonym: "Bullet-shaped thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021415 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009769 ! Bullet-shaped phalanges of the hand @@ -66877,7 +67011,7 @@ id: HP:0009653 name: Curved thumb phalanx def: "A deviation from the normal straight shape of a thumb phalanx." [HPO:probinson] synonym: "Curved phalanges of the thumb" EXACT [] -synonym: "Curved thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021414 is_a: HP:0004095 ! Curved fingers is_a: HP:0009602 ! Abnormality of thumb phalanx @@ -66902,7 +67036,7 @@ id: HP:0009655 name: Patchy sclerosis of thumb phalanx def: "An uneven increase in bone density of one or more of the phalanges of the thumb." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the thumb" EXACT [] -synonym: "Uneven increase in bone density in thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021413 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx @@ -66917,7 +67051,7 @@ alt_id: HP:0009639 alt_id: HP:0009647 def: "Congenital fusion (ankylosis) of the interphalangeal joint of the thumb." [HPO:probinson, pmid:22379556] comment: Symphalangism is caused by a failure of segmentation that occurs during early fetal development. -synonym: "Fused thumb bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused thumb phalanges" EXACT [] synonym: "Symphalangism of the distal and proximal phalanges of the thumb" EXACT [] xref: UMLS:C1834032 @@ -66934,7 +67068,7 @@ alt_id: HP:0004072 def: "Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle." [HPO:probinson] comment: A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). synonym: "Triangular shaped phalanges of the thumb" EXACT [] -synonym: "Triangular shaped thumb bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular thumb phalanges" EXACT [] xref: UMLS:C4021412 is_a: HP:0009602 ! Abnormality of thumb phalanx @@ -66944,8 +67078,8 @@ creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009658 name: Aplasia/Hypoplasia of the phalanges of the thumb -synonym: "Absent/small thumb bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped thumb bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024256 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand @@ -66974,7 +67108,7 @@ alt_id: HP:0004071 def: "Hypoplastic (short) thumb phalanx." [HPO:probinson] synonym: "Hypoplastic thumb phalanges" EXACT [] synonym: "Hypoplastic/small phalanges of the thumb" EXACT [] -synonym: "Short thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short thumb phalanges" EXACT [] xref: UMLS:C4021411 is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb @@ -66988,7 +67122,7 @@ name: Abnormality of the epiphysis of the distal phalanx of the thumb alt_id: HP:0004089 def: "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] synonym: "Abnormality of terminal thumb epiphysis" EXACT [] -synonym: "Abnormality of the end part of the outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021410 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb @@ -67000,7 +67134,7 @@ creation_date: 2009-01-29T05:49:31Z id: HP:0009663 name: Abnormality of the epiphysis of the proximal phalanx of the thumb def: "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Abnormality of end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024254 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb @@ -67012,7 +67146,7 @@ creation_date: 2009-01-29T05:49:31Z id: HP:0009664 name: Absent epiphysis of the proximal phalanx of the thumb def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Absent end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024253 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009686 ! Absent epiphyses of the thumb @@ -67024,7 +67158,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009665 name: Bracket epiphysis of the proximal phalanx of the thumb def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:probinson] -synonym: "Bracket shaped end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024252 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009687 ! Bracket epiphyses of the thumb @@ -67036,7 +67170,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009666 name: Cone-shaped epiphysis of the proximal phalanx of the thumb def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Cone-shaped end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024251 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb @@ -67048,7 +67182,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009667 name: Enlarged epiphysis of the proximal phalanx of the thumb def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Enlarged end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024250 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009689 ! Enlarged thumb epiphysis @@ -67060,7 +67194,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009668 name: Fragmentation of the epiphysis of the proximal phalanx of the thumb def: "Epiphysis of the proximal phalanx of the thumb having multiple bony fragments." [HPO:probinson] -synonym: "Fragmentation of end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024249 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of thumb epiphysis @@ -67072,7 +67206,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009669 name: Irregular epiphysis of the proximal phalanx of the thumb def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Irregular end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024248 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009691 ! Irregular thumb epiphysis @@ -67084,7 +67218,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009670 name: Ivory epiphysis of the proximal phalanx of the thumb def: "Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] -synonym: "Increased bone density of end part of the innermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024247 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphysis of the thumb @@ -67107,7 +67241,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009672 name: Small epiphysis of the proximal phalanx of the thumb def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms." [HPO:probinson] -synonym: "Small end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024245 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009694 ! Small thumb epiphysis @@ -67119,7 +67253,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009673 name: Stippling of the epiphysis of the proximal phalanx of the thumb def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] -synonym: "Speckled calcifications in end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024244 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009695 ! Stippling of thumb epiphysis @@ -67131,7 +67265,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009674 name: Triangular epiphysis of the proximal phalanx of the thumb def: "A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Triangular end part of thumb innermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024243 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009696 ! Triangular epiphyses of the thumb @@ -67143,7 +67277,7 @@ creation_date: 2009-01-30T09:17:13Z id: HP:0009675 name: Absent epiphysis of the distal phalanx of the thumb def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb." [HPO:curators] -synonym: "Absent end part of thumb outermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024242 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009686 ! Absent epiphyses of the thumb @@ -67155,7 +67289,7 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009676 name: Bracket epiphysis of the distal phalanx of the thumb def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:probinson] -synonym: "Bracket shaped end part of thumb outermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024241 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009687 ! Bracket epiphyses of the thumb @@ -67168,7 +67302,7 @@ id: HP:0009677 name: Cone-shaped epiphysis of the distal phalanx of the thumb alt_id: HP:0004091 def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:probinson] -synonym: "Cone-shaped end part of thumb outermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped terminal thumb phalanx epiphysis" EXACT [] xref: UMLS:C4021409 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb @@ -67182,7 +67316,7 @@ id: HP:0009678 name: Enlarged epiphysis of the distal phalanx of the thumb alt_id: HP:0004092 def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of thumb outermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large terminal thumb phalanx epiphysis" EXACT [] xref: UMLS:C4021408 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb @@ -67195,7 +67329,7 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009679 name: Fragmentation of the epiphysis of the distal phalanx of the thumb def: "Epiphysis of the distal phalanx of the thumb having multiple bony fragments." [HPO:probinson] -synonym: "Fragmentation of end part thumb outermost long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024240 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of thumb epiphysis @@ -67207,7 +67341,7 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009680 name: Irregular epiphysis of the distal phalanx of the thumb def: "Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb." [HPO:probinson] -synonym: "Irregular end part of thumb outermost bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024239 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009691 ! Irregular thumb epiphysis @@ -67219,7 +67353,7 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009681 name: Ivory epiphysis of the distal phalanx of the thumb def: "Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] -synonym: "Increased bone density of end part of the outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024238 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphysis of the thumb @@ -67231,7 +67365,7 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009682 name: Pseudoepiphysis of the distal phalanx of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb." [HPO:probinson] -synonym: "Pseudoepiphysis of the outermost bone of the thumb" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Pseudoepiphysis of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024237 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphysis of the thumb @@ -67243,7 +67377,7 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009683 name: Small epiphysis of the distal phalanx of the thumb def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [HPO:probinson] -synonym: "Small end part of thumb outermost bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024236 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009694 ! Small thumb epiphysis @@ -67255,7 +67389,7 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009684 name: Stippling of the epiphysis of the distal phalanx of the thumb def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb." [HPO:probinson] -synonym: "Speckled calcifications in the end part of the outermost thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024235 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009695 ! Stippling of thumb epiphysis @@ -67267,8 +67401,8 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009685 name: Triangular epiphysis of the distal phalanx of the thumb def: "A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] -synonym: "Triangular end part of thumb outermost bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular epiphysis of the outermost bone of the thumb" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular epiphysis of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024234 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009696 ! Triangular epiphyses of the thumb @@ -67280,7 +67414,7 @@ creation_date: 2009-01-30T09:18:09Z id: HP:0009686 name: Absent epiphyses of the thumb def: "Absence of one or more epiphyses of the thumb." [HPO:curators] -synonym: "Absent end part of thumb outermost bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024233 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand @@ -67291,7 +67425,7 @@ creation_date: 2009-01-30T09:20:16Z id: HP:0009687 name: Bracket epiphyses of the thumb def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] -synonym: "Bracket shaped end part of the thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024232 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand @@ -67303,7 +67437,7 @@ id: HP:0009688 name: Cone-shaped epiphysis of the thumb alt_id: HP:0004075 def: "A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:probinson] -synonym: "Cone-shaped end part of thumb long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of the thumb" EXACT [] synonym: "Cone-shaped thumb epiphyses" EXACT [] xref: UMLS:C4021407 @@ -67316,7 +67450,7 @@ creation_date: 2009-01-30T09:20:16Z id: HP:0009689 name: Enlarged thumb epiphysis def: "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms." [HPO:probinson] -synonym: "Enlarged end part of thumb long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged epiphyses of the thumb" EXACT [] xref: UMLS:C4021406 is_a: HP:0009599 ! Abnormality of thumb epiphysis @@ -67328,7 +67462,7 @@ creation_date: 2009-01-30T09:20:16Z id: HP:0009690 name: Fragmentation of thumb epiphysis def: "Epiphysis of the thumb having multiple bony fragments." [HPO:probinson] -synonym: "Fragmentation of end part of long bone of thumb" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fragmentation of end part of long bone of thumb" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Fragmentation of the epiphyses of the thumb" EXACT [] xref: UMLS:C4021405 is_a: HP:0009599 ! Abnormality of thumb epiphysis @@ -67340,7 +67474,7 @@ creation_date: 2009-01-30T09:20:16Z id: HP:0009691 name: Irregular thumb epiphysis def: "Uneven radiographic opacity of the one or more epiphyses of the thumb." [HPO:probinson] -synonym: "Irregular end part of thumb long bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Irregular end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Irregular epiphyses of the thumb" EXACT [] xref: UMLS:C4021404 is_a: HP:0009599 ! Abnormality of thumb epiphysis @@ -67352,7 +67486,7 @@ creation_date: 2009-01-30T09:20:16Z id: HP:0009692 name: Ivory epiphysis of the thumb def: "Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] -synonym: "Increased bone density of end part of the thumb" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased bone density of end part of the thumb" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Ivory epiphyses of the thumb" EXACT [] xref: UMLS:C4021403 is_a: HP:0009599 ! Abnormality of thumb epiphysis @@ -67376,7 +67510,7 @@ creation_date: 2009-01-30T09:20:16Z id: HP:0009694 name: Small thumb epiphysis def: "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms." [HPO:probinson] -synonym: "Small end part of thumb long bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Small end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small epiphyses of the thumb" EXACT [] xref: UMLS:C4021402 is_a: HP:0009599 ! Abnormality of thumb epiphysis @@ -67388,7 +67522,7 @@ creation_date: 2009-01-30T09:20:16Z id: HP:0009695 name: Stippling of thumb epiphysis def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb." [HPO:probinson] -synonym: "Speckled calcifications in end part of thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the thumb" EXACT [] xref: UMLS:C4021401 is_a: HP:0009599 ! Abnormality of thumb epiphysis @@ -67399,7 +67533,7 @@ creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009696 name: Triangular epiphyses of the thumb -synonym: "Triangular end part of the thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024231 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand @@ -67431,7 +67565,7 @@ creation_date: 2009-01-30T04:08:52Z id: HP:0009700 name: Finger symphalangism def: "An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are revered to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are refered to as \"bony\" Syndactyly." [HPO:sdoelken] -synonym: "Fused finger bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the hand" EXACT [HPO:curators] synonym: "Synostosis involving bones of the fingers" EXACT [] xref: UMLS:C4021399 @@ -67447,7 +67581,7 @@ alt_id: HP:0005915 alt_id: HP:0006041 def: "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:probinson] subset: hposlim_core -synonym: "Fused long bones of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving metacarpal bones" EXACT [] synonym: "Synostosis involving the metacarpal bones" EXACT [] xref: UMLS:C4021398 @@ -67467,7 +67601,7 @@ subset: hposlim_core synonym: "Carpal bone fusion" EXACT [] synonym: "Carpal fusion" EXACT [] synonym: "Fused carpal bones" EXACT [] -synonym: "Fused wrist bones" BROAD layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving the carpal bones" EXACT [] xref: SNOMEDCT_US:253930002 xref: UMLS:C0431863 @@ -67484,7 +67618,7 @@ alt_id: HP:0005614 alt_id: HP:0010032 def: "Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "First metacarpophalangeal joint synostosis" EXACT [] -synonym: "Fusion involving 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism affecting the 1st metacarpal" EXACT [] xref: UMLS:C4021397 is_a: HP:0009701 ! Metacarpal synostosis @@ -67504,7 +67638,7 @@ creation_date: 2009-01-30T06:24:59Z [Term] id: HP:0009705 name: Synostosis involving the 2nd metacarpal -synonym: "Fusion involving the 2nd long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024228 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010010 ! Abnormality of the 2nd metacarpal @@ -67514,7 +67648,7 @@ creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009706 name: Synostosis involving the 3rd metacarpal -synonym: "Fusion involving the 3rd long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024227 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010011 ! Abnormality of the 3rd metacarpal @@ -67524,7 +67658,7 @@ creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009707 name: Synostosis involving the 4th metacarpal -synonym: "Fusion involving the 4th long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024226 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010012 ! Abnormality of the 4th metacarpal @@ -67534,7 +67668,7 @@ creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009708 name: Synostosis involving the 5th metacarpal -synonym: "Fusion involving the 5th long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving the 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024225 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010013 ! Abnormality of the 5th metacarpal @@ -67685,8 +67819,8 @@ name: Dental enamel pits def: "The presence of small depressions in the dental enamel." [HPO:curators] synonym: "Dental enamel pits" EXACT layperson [] synonym: "Dental enamel pitting" EXACT [] -synonym: "Pitting of tooth enamel" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tooth enamel pits" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pitting of tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Tooth enamel pits" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860711 is_a: HP:0000682 ! Abnormality of dental enamel created_by: peter @@ -67901,10 +68035,10 @@ creation_date: 2009-01-31T12:41:43Z id: HP:0009740 name: Aplasia of the parotid gland def: "Absence of the parotid gland." [HPO:curators] -synonym: "Abnormally small parotid gland" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally small parotid gland" EXACT [ORCID:0000-0001-5889-4463] synonym: "Absence of the parotid gland" RELATED [] -synonym: "Hypoplasia of parotid gland" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of parotid gland" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypoplasia of parotid gland" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of parotid gland" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1400252 xref: UMLS:C4020779 xref: UMLS:C4024215 @@ -67916,8 +68050,8 @@ creation_date: 2009-01-31T12:51:47Z id: HP:0009741 name: Nephrosclerosis def: "Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [HPO:curators] -synonym: "Scarring of kidney arteries" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Thickening of kidney artiries" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Scarring of kidney arteries" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Thickening of kidney artiries" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009400 xref: SNOMEDCT_US:32916005 xref: UMLS:C0027719 @@ -67975,12 +68109,12 @@ creation_date: 2009-01-31T02:22:38Z id: HP:0009746 name: Thick nasal septum def: "Abnormally increased thickness of the nasal septum." [HPO:curators] -synonym: "Broad nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Broad septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Broad nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Broad septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick nasal septum" EXACT layperson [] -synonym: "Thick septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thick septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844810 is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter @@ -68017,7 +68151,7 @@ creation_date: 2009-01-31T04:02:42Z id: HP:0009751 name: Aplasia of the pectoralis major muscle def: "Absence of the pectoralis major muscle." [HPO:curators] -synonym: "Absent pectoralis major muscle" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent pectoralis major muscle" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024213 is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia is_a: HP:0100854 ! Aplasia of the musculature @@ -68028,7 +68162,7 @@ creation_date: 2009-01-31T05:18:55Z id: HP:0009752 name: Cleft in skull base def: "A bony defect in the skull base." [HPO:curators] -synonym: "Cleft in cranial base" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cleft in cranial base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft in skull base" EXACT layperson [] xref: UMLS:C1856027 is_a: HP:0002693 ! Abnormality of the skull base @@ -68041,7 +68175,7 @@ name: Fibrous syngnathia def: "Complete or nearly complete soft tissue fusion of the alveolar ridges." [pmid:19125428] comment: This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae. subset: hposlim_core -synonym: "Alveolar synechiae" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Alveolar synechiae" EXACT [ORCID:0000-0001-5889-4463] synonym: "Fusion of the alveolar ridges" EXACT [] xref: UMLS:C4021392 is_a: HP:0000277 ! Abnormality of the mandible @@ -68055,10 +68189,10 @@ name: Ankyloblepharon def: "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue." [pmid:18125427] comment: A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. subset: hposlim_core -synonym: "Adhesion of eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Adhesion of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Ankyloblepharon filiforme adnatum" EXACT [] synonym: "Eyelid synechiae" EXACT [] -synonym: "Eyelids stuck together" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelids stuck together" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C536373 xref: SNOMEDCT_US:193953008 xref: SNOMEDCT_US:400952003 @@ -68100,7 +68234,7 @@ creation_date: 2009-01-31T09:08:49Z id: HP:0009759 name: Neck pterygia def: "Pterygia affecting the neck." [HPO:curators] -synonym: "Neck pterygium" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Neck pterygium" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1849577 is_a: HP:0001059 ! Pterygium created_by: peter @@ -68163,7 +68297,7 @@ synonym: "Columella, low hanging" EXACT [] synonym: "Extension of the columella below the ala nasi" EXACT [] synonym: "Low-hanging columella" EXACT [] synonym: "Prominent columella" RELATED [] -synonym: "Rounded columella" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Rounded columella" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C1856119 xref: UMLS:C4280395 is_a: HP:0009929 ! Abnormality of the columella @@ -68191,7 +68325,7 @@ name: Broad phalanges of the hand alt_id: HP:0001246 alt_id: HP:0006260 def: "Increased width of the phalanges of the hand." [HPO:curators] -synonym: "Wide hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Widening of phalanges of the hand" EXACT [] xref: UMLS:C4021391 is_a: HP:0001500 ! Broad finger @@ -68207,7 +68341,7 @@ name: Bullet-shaped phalanges of the hand alt_id: HP:0004270 alt_id: HP:0006139 def: "The presence of short and wide phalanges which taper distally (\"bullet shaped\")." [HPO:curators] -synonym: "Bullet-shaped hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the hands" EXACT [] synonym: "Conical bullet-shaped distal ends of phalanges" EXACT [] xref: UMLS:C1854952 @@ -68218,7 +68352,7 @@ creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009770 name: Curved phalanges of the hand -synonym: "Curved hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024211 is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens @@ -68247,7 +68381,7 @@ alt_id: HP:0006071 def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the hand" EXACT [] synonym: "Phalangeal sclerosis" EXACT [] -synonym: "Uneven increase in bone density in finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857508 is_a: HP:0004286 ! Patchy sclerosis of hand bones is_a: HP:0005686 ! Patchy osteosclerosis @@ -68260,7 +68394,7 @@ id: HP:0009773 name: Symphalangism affecting the phalanges of the hand alt_id: HP:0006258 def: "Fusion of two or more phalangeal bones of the hand." [HPO:curators] -synonym: "Fused finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving phalanges of the hand" EXACT [] xref: UMLS:C4021390 is_a: HP:0005918 ! Abnormality of phalanx of finger @@ -68273,7 +68407,7 @@ name: Triangular shaped phalanges of the hand alt_id: HP:0006085 alt_id: HP:0009874 synonym: "Delta phalanx/delta-like phalanx" EXACT [] -synonym: "Triangular shaped hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2673397 is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens @@ -68304,8 +68438,9 @@ name: Adactyly def: "The absence of all phalanges of all the digits of a limb and the associated soft tissues." [pmid:19125433] comment: This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly. subset: hposlim_core -synonym: "Absent fingers or toes" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent fingers or toes" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Aphalangy" EXACT [] +xref: Fyler:4173 xref: SNOMEDCT_US:275348004 xref: UMLS:C0238591 xref: UMLS:C4280394 @@ -68365,7 +68500,7 @@ name: 3-4 toe syndactyly alt_id: HP:0004708 def: "Syndactyly with fusion of toes three and four." [HPO:sdoelken] synonym: "syndactyly of 3rd - 4th toes" EXACT [] -synonym: "Webbed 3rd-4th toes" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Webbed 3rd-4th toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834062 is_a: HP:0001770 ! Toe syndactyly created_by: peter @@ -68394,8 +68529,8 @@ creation_date: 2009-02-03T04:50:17Z id: HP:0009782 name: Aplasia/Hypoplasia of the biceps def: "Absence or underdevelopment of the biceps muscle." [HPO:curators] -synonym: "Absent/small biceps" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped biceps" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small biceps" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped biceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024209 is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm created_by: peter @@ -68405,7 +68540,7 @@ creation_date: 2009-02-03T04:52:01Z id: HP:0009783 name: Biceps aplasia def: "Absence of the biceps muscle." [HPO:curators] -synonym: "Absent biceps" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent biceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805764 is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps is_a: HP:0100854 ! Aplasia of the musculature @@ -68416,8 +68551,8 @@ creation_date: 2009-02-03T04:57:47Z id: HP:0009784 name: Aplasia/Hypoplasia of the triceps def: "Absence or underdevelopment of the triceps muscle." [HPO:curators] -synonym: "Absent/small triceps" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped triceps" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small triceps" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped triceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024208 is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm created_by: peter @@ -68427,7 +68562,7 @@ creation_date: 2009-02-03T04:58:31Z id: HP:0009785 name: Triceps aplasia def: "Absence of the triceps muscle." [HPO:curators] -synonym: "Absent triceps" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent triceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3810484 is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps is_a: HP:0100854 ! Aplasia of the musculature @@ -68438,8 +68573,8 @@ creation_date: 2009-02-03T05:15:21Z id: HP:0009786 name: Aplasia/Hypoplasia of the musculature of the thigh def: "Absence or underdevelopment involving the musculature of the thigh." [HPO:curators] -synonym: "Absent/small thigh muscles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped thigh muscles" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024207 is_a: HP:0001441 ! Abnormality of the musculature of the thigh is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities @@ -68450,8 +68585,8 @@ creation_date: 2009-02-03T05:16:42Z id: HP:0009787 name: Aplasia/Hypoplasia of the quadriceps def: "Absence or underdevelopment of the quadriceps muscle." [HPO:curators] -synonym: "Absent/small quadriceps" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped quadriceps" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small quadriceps" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped quadriceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024206 is_a: HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh created_by: peter @@ -68461,7 +68596,7 @@ creation_date: 2009-02-03T05:17:40Z id: HP:0009788 name: Quadriceps aplasia def: "Absence of the quadriceps muscle." [HPO:curators] -synonym: "Absent quads" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent quads" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805765 is_a: HP:0009787 ! Aplasia/Hypoplasia of the quadriceps is_a: HP:0100854 ! Aplasia of the musculature @@ -68528,8 +68663,8 @@ name: Branchial anomaly def: "Congenital developmental defect arising from the primitive branchial apparatus." [HPO:sdoelken] comment: During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck. subset: hposlim_core -synonym: "Abnormality of branchial apparatus" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of branchial arch" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of branchial apparatus" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of branchial arch" EXACT [ORCID:0000-0001-5889-4463] synonym: "Branchial abnormality" EXACT [] synonym: "Branchial anomalies" EXACT [] xref: UMLS:C1862066 @@ -68592,7 +68727,7 @@ creation_date: 2009-02-11T05:21:23Z id: HP:0009799 name: Supernumerary spleens def: "The presence of two or more accessory spleens." [HPO:curators] -synonym: "Extra spleen" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:10362008 xref: UMLS:C0266631 is_a: HP:0025408 ! Abnormal spleen morphology @@ -68619,7 +68754,7 @@ creation_date: 2009-02-12T05:44:58Z id: HP:0009802 name: Aplasia of the phalanges of the hand def: "Absence of one or more of the phalanges of the hand." [HPO:curators] -synonym: "Absent finger bone of the hand" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent finger bone of the hand" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024203 xref: UMLS:C4280393 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand @@ -68653,11 +68788,11 @@ id: HP:0009804 name: Reduced number of teeth def: "The presence of a reduced number of teeth as in Hypodontia or as in Anodontia." [HPO:sdoelken] comment: Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia). -synonym: "Decreased number of teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased tooth count" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of some teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Fewer teeth than normal" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing some teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased number of teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased tooth count" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of some teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Fewer teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing some teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Reduced number of teeth" EXACT layperson [] synonym: "Tooth agenesis" BROAD [] xref: UMLS:C4024202 @@ -68691,7 +68826,7 @@ name: Anomaly of the upper limb diaphyses alt_id: HP:0003857 def: "A structural abnormality of a diaphysis of the arm." [UToronto:htrang] synonym: "Abnormality involving the diaphyses of the upper limbs" EXACT [] -synonym: "Abnormality of shaft of long bone of the upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Diaphyseal abnormality of the upper limbs" EXACT [] xref: UMLS:C4021389 is_a: HP:0002817 ! Abnormality of the upper limb @@ -68704,7 +68839,7 @@ id: HP:0009809 name: Abnormality of upper limb metaphysis alt_id: HP:0003847 def: "An anomaly of one or more metaphyses of the arms." [HPO:probinson] -synonym: "Abnormality of the wide portion of upper limb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Metaphyseal abnormality of the upper limbs" EXACT [] xref: UMLS:C4021388 is_a: HP:0000944 ! Abnormality of the metaphysis @@ -68773,8 +68908,8 @@ name: Aplasia/hypoplasia of the extremities alt_id: HP:0002969 alt_id: HP:0006497 def: "Absence (due to failure to form) or underdevelopment of the extremities." [HPO:probinson] -synonym: "Absent/small extremities" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped extremities" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small extremities" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped extremities" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short or absent limbs" EXACT [] synonym: "Shortened limbs" EXACT [] xref: UMLS:C0239399 @@ -68793,7 +68928,7 @@ def: "Leg shortening because of underdevelopment of one or more bones of the low synonym: "Hypoplasia involving bones of the lower limbs" EXACT [] synonym: "Hypoplasia of the lower limbs" EXACT [] synonym: "Lower limb undergrowth" EXACT layperson [] -synonym: "Underdeveloped lower limb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:253959002 xref: UMLS:C0345371 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs @@ -68804,7 +68939,7 @@ creation_date: 2009-02-23T05:09:32Z [Term] id: HP:0009817 name: Aplasia involving bones of the lower limbs -synonym: "Absent bones of the lower limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024198 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities @@ -68865,7 +69000,7 @@ creation_date: 2009-02-23T05:11:42Z [Term] id: HP:0009822 name: Aplasia involving forearm bones -synonym: "Absent forearm bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024195 is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones created_by: doelkens @@ -68874,7 +69009,7 @@ creation_date: 2009-02-23T05:12:10Z [Term] id: HP:0009823 name: Aplasia involving bones of the upper limbs -synonym: "Absent bones of the upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024194 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities @@ -68900,7 +69035,7 @@ creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009825 name: Aplasia involving bones of the extremities -synonym: "Absent bones of the extremities" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent bones of the extremities" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024193 is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities created_by: doelkens @@ -68970,8 +69105,8 @@ alt_id: HP:0007235 alt_id: HP:0007355 def: "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:sdoelken] synonym: "Neuropathy" RELATED [] -synonym: "Peripheral nerve damage" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Peripheral neuritis" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Peripheral nerve damage" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Peripheral neuritis" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D010523 xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:386033004 @@ -68986,7 +69121,7 @@ creation_date: 2009-03-01T07:49:18Z id: HP:0009831 name: Mononeuropathy def: "A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution." [HPO:probinson] -synonym: "Single damaged nerve" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Single damaged nerve" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020422 xref: SNOMEDCT_US:128189008 xref: UMLS:C0494491 @@ -69001,7 +69136,7 @@ alt_id: HP:0005919 def: "Any anomaly of distal phalanx of finger." [HPO:probinson] synonym: "Abnormal terminal phalanges of the hand" EXACT [] synonym: "Abnormality of the distal phalanges of the hand" EXACT [] -synonym: "Abnormality of the outermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021385 is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens @@ -69011,7 +69146,7 @@ creation_date: 2009-03-11T12:01:39Z id: HP:0009833 name: Abnormality of the middle phalanges of the hand def: "An anomaly of middle phalanx of finger." [HPO:probinson] -synonym: "Abnormality of the middle finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024191 is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens @@ -69020,7 +69155,7 @@ creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009834 name: Abnormality of the proximal phalanges of the hand -synonym: "Abnormality of the innermost finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024190 is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens @@ -69035,8 +69170,8 @@ alt_id: HP:0006066 alt_id: HP:0006235 def: "Absence or underdevelopment of the distal phalanges." [HPO:curators] synonym: "Absent/hypoplastic distal phalanges" EXACT [] -synonym: "Absent/small outermost finger bone of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost finger bone of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/Hypoplasia of the distal phalanges" EXACT [] synonym: "Aplastic/hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic to absent terminal phalanges" EXACT [] @@ -69061,7 +69196,7 @@ def: "Abnormally wide (broad) distal phalanx of finger." [HPO:sdoelken] synonym: "Broad distal phalanges" EXACT [] synonym: "Broad distal phalanges of the hand" EXACT [] synonym: "Broad distal phalanx" EXACT [] -synonym: "Broad outermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad terminal phalanges" EXACT [] synonym: "Broad, square ends of distal phalanges" EXACT [] synonym: "Spatulate terminal phalanges" EXACT [] @@ -69075,7 +69210,7 @@ creation_date: 2009-03-11T12:10:11Z id: HP:0009837 name: Bullet-shaped distal phalanges of the hand alt_id: HP:0009860 -synonym: "Bullet-shaped outermost finger bone of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024189 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger @@ -69086,7 +69221,7 @@ creation_date: 2009-03-11T12:10:11Z id: HP:0009838 name: Curved distal phalanges of the hand alt_id: HP:0009862 -synonym: "Curved outermost finger bone of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024188 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger @@ -69100,7 +69235,7 @@ alt_id: HP:0001219 alt_id: HP:0009865 synonym: "Acro-osteolysis of distal phalanges" EXACT [] synonym: "Acroosteolysis of distal phalanges" EXACT [] -synonym: "Osteolytic defects of the outermost finger bone of the hand" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Osteolytic defects of the outermost finger bone of the hand" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1849547 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger @@ -69113,7 +69248,7 @@ name: Patchy sclerosis of distal phalanx of finger alt_id: HP:0009868 def: "Uneven (irregular) increase in bone density of the distal phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the distal phalanges of the hand" EXACT [] -synonym: "Uneven increase in bone density in outermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021384 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100915 ! Sclerosis of distal finger phalanx @@ -69127,8 +69262,8 @@ alt_id: HP:0005810 alt_id: HP:0006063 alt_id: HP:0006148 synonym: "Absent/hypoplastic middle phalanges" EXACT [] -synonym: "Absent/small middle finger bone of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle finger bone of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/hypoplasia of middle phalanges" EXACT [] synonym: "Aplastic/hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic/aplastic middle phalanx" EXACT [] @@ -69144,7 +69279,7 @@ creation_date: 2009-03-11T12:15:55Z id: HP:0009844 name: Broad middle phalanx of finger def: "Increased width of the middle phalanx of finger." [HPO:probinson] -synonym: "Broad middle finger bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Broad middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Broad middle phalanges of finger" EXACT [] synonym: "Broad middle phalanges of the hand" EXACT [] xref: UMLS:C4021383 @@ -69158,7 +69293,7 @@ id: HP:0009845 name: Bullet-shaped middle phalanges of the hand alt_id: HP:0006038 def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped middle finger bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Bullet-shaped middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024187 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand @@ -69169,7 +69304,7 @@ creation_date: 2009-03-11T12:15:55Z id: HP:0009846 name: Curved middle phalanges of the hand alt_id: HP:0009863 -synonym: "Curved middle finger bonds of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved middle finger bonds of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024186 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand @@ -69192,7 +69327,7 @@ name: Patchy sclerosis of middle phalanx of finger alt_id: HP:0009870 def: "Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the middle phalanges of the hand" EXACT [] -synonym: "Uneven increase in bone density in the middle finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021382 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100916 ! Sclerosis of middle finger phalanx @@ -69204,7 +69339,7 @@ id: HP:0009849 name: Symphalangism of middle phalanx of finger alt_id: HP:0009872 def: "Fusion of a middle phalanx of a finger with another bone." [HPO:probinson] -synonym: "Fused middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024184 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand @@ -69215,7 +69350,7 @@ creation_date: 2009-03-11T12:15:55Z id: HP:0009850 name: Triangular shaped middle phalanges of the hand alt_id: HP:0009876 -synonym: "Triangular shaped middle finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024183 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand @@ -69225,8 +69360,8 @@ creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009851 name: Aplasia/Hypoplasia of the proximal phalanges of the hand -synonym: "Absent/small innermost finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024182 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -69238,8 +69373,8 @@ id: HP:0009852 name: Broad proximal phalanges of the hand alt_id: HP:0006168 def: "Increased width of the proximal phalanges of the finger." [HPO:probinson] -synonym: "Broad innermost finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide innermost finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024181 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -69250,7 +69385,7 @@ creation_date: 2009-03-11T12:16:33Z id: HP:0009853 name: Bullet-shaped proximal phalanges of the hand alt_id: HP:0009861 -synonym: "Bullet-shaped innermost finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024180 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -69261,7 +69396,7 @@ creation_date: 2009-03-11T12:16:33Z id: HP:0009854 name: Curved proximal phalanges of the hand alt_id: HP:0009864 -synonym: "Curved innermost finger bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024179 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -69286,7 +69421,7 @@ name: Patchy sclerosis of proximal phalanx of finger alt_id: HP:0009869 def: "Uneven increase in bone density of the proximal phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the proximal phalanges of the hand" EXACT [] -synonym: "Uneven increase in bone density in innermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021381 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100917 ! Sclerosis of proximal finger phalanx @@ -69297,7 +69432,7 @@ creation_date: 2009-03-11T12:16:33Z id: HP:0009857 name: Symphalangism affecting the proximal phalanges of the hand alt_id: HP:0009873 -synonym: "Fused innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024178 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -69308,7 +69443,7 @@ creation_date: 2009-03-11T12:16:33Z id: HP:0009858 name: Triangular shaped proximal phalanges of the hand alt_id: HP:0009877 -synonym: "Triangular shaped innermost finger bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped innermost finger bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024177 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -69320,7 +69455,7 @@ id: HP:0009875 name: Triangular shaped distal phalanges of the hand alt_id: HP:0006061 alt_id: HP:0009842 -synonym: "Triangular shaped outermost bone of the hand" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Triangular shaped outermost bone of the hand" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024176 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger @@ -69350,7 +69485,7 @@ id: HP:0009880 name: Broad distal phalanges of all fingers alt_id: HP:0005816 def: "Abnormally wide (broad) distal phalanx of finger of all fingers." [HPO:probinson] -synonym: "Broad outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024174 is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens @@ -69359,9 +69494,9 @@ creation_date: 2009-04-24T04:18:59Z [Term] id: HP:0009881 name: Aplasia of the distal phalanges of the hand -synonym: "Absent distal phalanges of the hand" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Absent outermost hand bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Aplasia of outermost hand bone" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent distal phalanges of the hand" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Absent outermost hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Aplasia of outermost hand bone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024173 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009802 ! Aplasia of the phalanges of the hand @@ -69393,7 +69528,7 @@ synonym: "Hypoplasic terminal phalanges" EXACT [] synonym: "Hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic terminal phalanges" EXACT [] synonym: "Short distal phalanges" EXACT [] -synonym: "Short outermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Terminal phalangeal hypoplasia of hand" EXACT [] xref: UMLS:C1839829 is_a: HP:0009381 ! Short finger @@ -69409,8 +69544,8 @@ alt_id: HP:0001228 alt_id: HP:0010007 def: "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Bifid terminal phalanges" EXACT [] -synonym: "Duplication of the outermost bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Notched outermost bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Notched outermost bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanges of the hand" EXACT [] xref: UMLS:C1849343 is_a: HP:0009832 ! Abnormality of the distal phalanx of finger @@ -69425,7 +69560,7 @@ alt_id: HP:0006052 def: "A reduction in diameter of the distal phalanx of finger towards the distal end." [HPO:probinson] synonym: "Tapered distal phalanges" EXACT [] synonym: "Tapered distal phalanges of the hand" EXACT [] -synonym: "Tapered outermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Tapered outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1969237 is_a: HP:0009832 ! Abnormality of the distal phalanx of finger created_by: doelkens @@ -69452,7 +69587,7 @@ creation_date: 2009-04-30T05:51:57Z id: HP:0009887 name: Abnormality of hair pigmentation def: "An abnormality of hair pigmentation (color)." [HPO:curators] -synonym: "Abnormality of hair color" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of hair color" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of hair pigmentation" EXACT layperson [] xref: UMLS:C4024172 is_a: HP:0001595 ! Abnormality of the hair @@ -69473,7 +69608,7 @@ creation_date: 2009-04-30T06:18:33Z id: HP:0009889 name: Localized hirsutism def: "Abnormally increased hair growth with a localized distribution." [HPO:curators] -synonym: "Localized abnormal hair growth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Localized abnormal hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024170 is_a: HP:0001007 ! Hirsutism created_by: peter @@ -69499,11 +69634,11 @@ alt_id: HP:0004672 alt_id: HP:0005337 def: "Flatness of the supraorbital portion of the frontal bones." [HPO:curators, pmid:19125436] subset: hposlim_core -synonym: "Depressed supraorbital margins" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Depressed supraorbital margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Depressed supraorbital ridge" EXACT [] -synonym: "Flat supraorbital margins" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Flat supraorbital margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat supraorbital ridge" EXACT [] -synonym: "Hypoplasia of supraorbital margins" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypoplasia of supraorbital margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of the supraorbital ridges" EXACT [] synonym: "Hypoplastic supraorbital ridges" EXACT [] synonym: "Shallow orbital ridges" EXACT [] @@ -69620,7 +69755,7 @@ id: HP:0009900 name: Unilateral deafness def: "A unilateral absence of sensory perception of sound." [HPO:probinson] comment: Deafness affecting only one ear. -synonym: "Deafness in one ear" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Deafness in one ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Deafness, unilateral" EXACT [] xref: MSH:D046088 xref: SNOMEDCT_US:162342008 @@ -69690,8 +69825,8 @@ creation_date: 2009-05-01T02:50:35Z id: HP:0009906 name: Aplasia/Hypoplasia of the earlobes def: "Absence or underdevelopment of the ear lobes." [HPO:curators] -synonym: "Absent/small ear lobes" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped ear lobes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small ear lobes" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped ear lobes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1851792 is_a: HP:0000363 ! Abnormality of earlobe created_by: peter @@ -69746,7 +69881,7 @@ creation_date: 2009-05-01T03:02:07Z id: HP:0009910 name: Aplasia of the middle ear ossicles def: "Absence of the middle ear ossicles, malleus, incus, and stapes." [HPO:probinson] -synonym: "Absent middle ear bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent middle ear bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle ear ossicles" EXACT [] xref: UMLS:C4021374 is_a: HP:0004452 ! Abnormality of the middle ear ossicles @@ -69777,8 +69912,8 @@ creation_date: 2009-05-01T03:39:56Z id: HP:0009913 name: Aplasia/Hypoplasia of the tragus def: "Aplasia or developmental hypoplasia of the tragus." [HPO:probinson] -synonym: "Absent/small tragus" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped tragus" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small tragus" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped tragus" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024161 is_a: HP:0009912 ! Abnormality of the tragus created_by: peter @@ -69789,7 +69924,7 @@ id: HP:0009914 name: Cyclopia def: "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose." [DDD:ncarter] subset: hposlim_core -synonym: "Cyclops eye" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Cyclops eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Single central eye" EXACT layperson [] xref: MSH:C562573 xref: SNOMEDCT_US:205798005 @@ -69818,7 +69953,7 @@ subset: hposlim_core synonym: "Asymmetric pupil sizes" EXACT layperson [] synonym: "Asymmetry of the pupils" EXACT layperson [] synonym: "Unequal pupil dilatation" EXACT [] -synonym: "Unequal pupil size" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Unequal pupil size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015875 xref: SNOMEDCT_US:13045009 xref: UMLS:C0003079 @@ -69843,7 +69978,7 @@ name: Ectopia pupillae def: "A malposition of the pupil owing to a developmental defect of the iris." [DDD:gblack, HPO:probinson] subset: hposlim_core synonym: "Corectopia" EXACT [] -synonym: "Displaced pupil" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Displaced pupil" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C536185 xref: SNOMEDCT_US:193523008 xref: SNOMEDCT_US:392461003 @@ -69856,7 +69991,7 @@ creation_date: 2009-05-02T06:01:01Z id: HP:0009919 name: Retinoblastoma def: "A tumor of the eye originating from cells of the retina." [HPO:curators] -synonym: "Retina tumor" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Retina tumor" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012175 xref: MSH:D019572 xref: SNOMEDCT_US:127002001 @@ -69873,7 +70008,7 @@ creation_date: 2009-05-02T06:23:25Z [Term] id: HP:0009920 name: Nevus of Ota -def: "A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera." [] {comment="PMID:14673306"} +def: "A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera." [PMID:14673306] synonym: "Congenital melanosis bulbi" EXACT [] synonym: "Naevus fuscoceruleus ophthalmomaxillaris" EXACT HP:0045076 [] synonym: "Nevus fuscoceruleus ophthalmomaxillaris" EXACT [] @@ -69893,8 +70028,8 @@ alt_id: HP:0001109 def: "A condition asspciated with limitation of horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction" [HPO:probinson] subset: hposlim_core synonym: "Globe retraction and deviation on adduction" RELATED [] -synonym: "Limited eye motility from Duane anomaly" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Limited eye movement from Duane anomaly" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Limited eye motility from Duane anomaly" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Limited eye movement from Duane anomaly" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D004370 xref: SNOMEDCT_US:60318001 xref: UMLS:C0013261 @@ -69919,10 +70054,10 @@ creation_date: 2009-05-02T06:43:07Z id: HP:0009924 name: Aplasia/Hypoplasia involving the nose def: "Underdevelopment or absence of the nose or parts thereof." [HPO:curators] -synonym: "Decreased nasal size" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of the nose" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic nose" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Decreased nasal size" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of the nose" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic nose" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:204519007 xref: SNOMEDCT_US:93278002 xref: UMLS:C0685684 @@ -69936,7 +70071,7 @@ creation_date: 2009-05-05T06:44:04Z id: HP:0009926 name: Epiphora alt_id: HP:0001486 -def: "Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [DDD:ncarter, HPO:probinson, PMID:28003974, UManchester:psergouniotis] +def: "Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123, PMID:28003974] comment: Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. subset: hposlim_core synonym: "Increased lacrimation" EXACT [] @@ -69958,10 +70093,10 @@ def: "Complete absence of all nasal structures." [HPO:probinson] subset: hposlim_core synonym: "Absent nose" EXACT layperson [] synonym: "Arrhinia" EXACT [] -synonym: "Failure of development of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Nasal underdevelopment" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Nasal underdevelopment" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C537438 xref: SNOMEDCT_US:111317000 xref: UMLS:C0265740 @@ -69987,9 +70122,9 @@ id: HP:0009929 name: Abnormality of the columella def: "An abnormality of the columella." [HPO:curators] comment: The columella is the fleshy external end of the nasal septum. -synonym: "Anomaly of the columella" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the columella" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the columella" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the columella" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the columella" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the columella" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4024158 is_a: HP:0010938 ! Abnormality of the external nose created_by: peter @@ -70000,12 +70135,12 @@ id: HP:0009930 name: Asymmetry of the nares def: "Asymmetry or size difference between the left and right nostril." [HPO:probinson] subset: hposlim_core -synonym: "Asymmetry of nostrils" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Crooked nostrils" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unequal nostril shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unequal nostril size" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven nostril shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven nostril size" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Asymmetry of nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Unequal nostril shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Unequal nostril size" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven nostril shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven nostril size" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024157 is_a: HP:0005288 ! Abnormality of the nares created_by: peter @@ -70017,19 +70152,19 @@ name: Enlarged naris def: "Increased aperture of the nostril." [pmid:19152422] comment: The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age. subset: hposlim_core -synonym: "Broad nostril" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dilated nares" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Dilated nostril" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Enlarged nares" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Enlarged nostril" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Broad nostril" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Dilated nares" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Dilated nostril" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Enlarged nares" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Enlarged nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased diameter of nares" EXACT [] -synonym: "Increased diameter of nostril" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Increased diameter of nostril" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased width of nares" EXACT [] synonym: "Large nares" EXACT [] synonym: "Naris, broad" EXACT [] synonym: "Naris, enlarged" EXACT [] -synonym: "Wide nares" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide nostril" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Wide nares" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide nostril" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:399353008 xref: UMLS:C0426440 is_a: HP:0005288 ! Abnormality of the nares @@ -70041,9 +70176,9 @@ name: Single naris def: "The presence of only a single nostril." [pmid:19152422] comment: The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified. subset: hposlim_core -synonym: "Mono nostril" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "One nostril" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Single nare" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Mono nostril" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "One nostril" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Single nare" EXACT [ORCID:0000-0001-5889-4463] synonym: "Single nostril" EXACT layperson [] xref: SNOMEDCT_US:95266003 xref: UMLS:C0685682 @@ -70056,15 +70191,15 @@ id: HP:0009933 name: Narrow naris def: "Slender, slit-like aperture of the nostril." [HPO:probinson] subset: hposlim_core -synonym: "Collapsed nostrils" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Collapsed nostrils" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Naris, narrow" EXACT [] synonym: "Naris, slit-like" EXACT [] -synonym: "Narrow nares" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Narrow nostrils" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Slit-like nostrils" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small nostrils" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Narrow nares" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Narrow nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Slit-like nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin nares" EXACT [] -synonym: "Thin nostrils" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249336003 xref: SNOMEDCT_US:249339005 xref: UMLS:C0426436 @@ -70080,10 +70215,10 @@ id: HP:0009934 name: Supernumerary naris def: "The presence of more than two nostrils." [pmid:19152422] subset: hposlim_core -synonym: "Accessory nares" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Accessory nostril" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Extra nostril" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Supernumerary nares" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Accessory nares" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Accessory nostril" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Extra nostril" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Supernumerary nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Supernumerary nostrils" EXACT [] xref: UMLS:C4021372 is_a: HP:0005288 ! Abnormality of the nares @@ -70094,9 +70229,9 @@ creation_date: 2009-05-10T10:37:41Z id: HP:0009935 name: Aplasia/Hypoplasia of the nasal septum def: "Absence or underdevelopment of the nasal septum." [HPO:curators] -synonym: "Ageneis of nasal septum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of nasal septum" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Ageneis of nasal septum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024156 is_a: HP:0000419 ! Abnormality of the nasal septum is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose @@ -70108,11 +70243,11 @@ id: HP:0009936 name: Narrow nasal septum def: "Abnormally narrow nasal septum." [HPO:probinson] subset: hposlim_core -synonym: "Decreased width of nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased width of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow nasal septum" EXACT layperson [] -synonym: "Narrow septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin nasal septum" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Narrow septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024155 is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter @@ -70122,7 +70257,7 @@ creation_date: 2009-05-10T10:46:40Z id: HP:0009937 name: Facial hirsutism def: "Excess facial hair." [HPO:curators] -synonym: "Excessive face hair" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Excessive face hair" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850041 xref: UMLS:C2128203 is_a: HP:0009889 ! Localized hirsutism @@ -70148,15 +70283,15 @@ name: Mandibular aplasia def: "Absence of the mandible." [HPO:curators] synonym: "Absence of lower jaw" EXACT [] synonym: "Absence of lower jaw bone" EXACT [] -synonym: "Absence of lower jaw bones" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of lower jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of mandible" EXACT [] synonym: "Absent mandible" EXACT [] -synonym: "Agenesis of the mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Agnathia" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of the lower jaw bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of the mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Agnathia" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of the lower jaw bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:91896009 xref: SNOMEDCT_US:91922000 xref: UMLS:C0685775 @@ -70172,18 +70307,18 @@ name: Asymmetry of the mandible def: "Lack of symmetry between the left and right mandible." [HPO:probinson] subset: hposlim_core synonym: "Asymmetry of lower jaw" EXACT layperson [] -synonym: "Canted lower jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Canted mandible" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Crooked lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Canted lower jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Canted mandible" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Crooked lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deviation of lower jaw" EXACT [] synonym: "Deviation of mandible" EXACT [] -synonym: "Deviation of the lower jaw" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deviation of the mandible" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Deviation of the lower jaw" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Deviation of the mandible" RELATED [ORCID:0000-0001-5889-4463] synonym: "Lower jaw shifted to one side" EXACT layperson [] -synonym: "Tilted lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tilted mandible" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Uneven lower jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven mandible" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Tilted lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Tilted mandible" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Uneven lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven mandible" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235082006 xref: UMLS:C0399518 xref: UMLS:C4082201 @@ -70196,12 +70331,12 @@ id: HP:0009941 name: Asymmetry of the mouth def: "The presence of an asymmetric mouth." [HPO:probinson] subset: hposlim_core -synonym: "Asymmetry of oral cavity" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Asymmetry of oral cavity" RELATED [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of the mouth" EXACT layperson [] -synonym: "Canted mouth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Crooked mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tilted mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Uneven mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Canted mouth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Crooked mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Tilted mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Uneven mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024153 is_a: HP:0011338 ! Abnormality of mouth shape created_by: peter @@ -70229,7 +70364,7 @@ alt_id: HP:0002801 alt_id: HP:0004067 def: "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:probinson] synonym: "Complete duplication of the phalanges of the thumb" EXACT [] -synonym: "Complete duplication of thumb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Digitalization of thumb" EXACT [] synonym: "Digitalization of thumbs" EXACT [] xref: UMLS:C3554724 @@ -70247,7 +70382,7 @@ def: "A partial duplication, depending on severity leading to a broad or bifid a synonym: "Bifid thumb" EXACT [] synonym: "Notching of thumb phalanges" EXACT [] synonym: "Partial duplication of the phalanges of the thumb" EXACT [] -synonym: "Partial duplication of the thumb bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4082168 is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0009999 ! Partial duplication of the phalanx of hand @@ -70258,7 +70393,7 @@ creation_date: 2009-05-15T12:51:57Z id: HP:0009945 name: Duplication of phalanx of 2nd finger def: "This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:curators] -synonym: "Duplication of the bones of index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the bones of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 2nd finger" EXACT [] xref: UMLS:C4021369 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger @@ -70269,7 +70404,7 @@ creation_date: 2009-05-15T01:00:37Z [Term] id: HP:0009946 name: Polydactyly affecting the 2nd finger -synonym: "Extra index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024152 is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0006159 ! Mesoaxial hand polydactyly @@ -70294,7 +70429,7 @@ id: HP:0009948 name: Duplication of the distal phalanx of the 2nd finger def: "Partial or complete duplication of the distal phalanx of index finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 2nd finger" EXACT [] -synonym: "Partial/complete duplication of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021367 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand @@ -70306,7 +70441,7 @@ creation_date: 2009-05-15T01:58:58Z id: HP:0009949 name: Duplication of the middle phalanx of the 2nd finger def: "Partial or complete duplication of the middle phalanx of index finger." [HPO:probinson] -synonym: "Partial/complete duplication of the middle bones of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of the middle bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021366 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger @@ -70319,7 +70454,7 @@ creation_date: 2009-05-15T01:58:58Z id: HP:0009950 name: Complete duplication of the distal phalanx of the 2nd finger def: "Complete duplication of the distal phalanx of index finger." [HPO:probinson] -synonym: "Complete duplication of the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024151 is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger @@ -70332,8 +70467,8 @@ id: HP:0009951 name: Partial duplication of the distal phalanx of the 2nd finger def: "Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 2nd finger" EXACT [] -synonym: "Notched outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the outermost bone of the 2nd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021365 is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger @@ -70345,7 +70480,7 @@ creation_date: 2009-05-15T02:03:28Z id: HP:0009952 name: Complete duplication of the middle phalanx of the 2nd finger def: "Complete duplication of the middle phalanx of index finger." [HPO:probinson] -synonym: "Complete duplication of the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024150 is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger @@ -70357,7 +70492,7 @@ creation_date: 2009-05-15T02:05:27Z id: HP:0009953 name: Partial duplication of the middle phalanx of the 2nd finger def: "Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] -synonym: "Partial duplication of the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024149 is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger @@ -70369,7 +70504,7 @@ creation_date: 2009-05-15T02:05:27Z id: HP:0009954 name: Complete duplication of the proximal phalanx of the 2nd finger def: "Complete duplication of the Second proximal phalanx of hand." [HPO:probinson] -synonym: "Complete duplication of the proximal bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the proximal bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024148 is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger @@ -70381,7 +70516,7 @@ creation_date: 2009-05-15T02:06:11Z id: HP:0009955 name: Partial duplication of the proximal phalanx of the 2nd finger def: "Partial duplication of the Second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] -synonym: "Partial duplication of the proximal bones of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the proximal bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024147 is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger @@ -70393,7 +70528,7 @@ creation_date: 2009-05-15T02:06:11Z id: HP:0009956 name: Partial duplication of the phalanges of the 2nd finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] -synonym: "Partial duplication of the bones of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024146 is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand @@ -70404,7 +70539,7 @@ creation_date: 2009-05-15T02:07:41Z id: HP:0009957 name: Complete duplication of the phalanges of the 2nd finger def: "A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] -synonym: "Complete duplication of the bones of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024145 is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0009998 ! Complete duplication of phalanx of hand @@ -70414,7 +70549,7 @@ creation_date: 2009-05-15T02:08:02Z [Term] id: HP:0009958 name: Polydactyly affecting the 3rd finger -synonym: "Extra middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024144 is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0006159 ! Mesoaxial hand polydactyly @@ -70425,7 +70560,7 @@ creation_date: 2009-05-26T09:54:29Z id: HP:0009959 name: Duplication of phalanx of 3rd finger def: "This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] -synonym: "Duplication of middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 3rd finger" EXACT [] xref: UMLS:C4021364 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger @@ -70437,7 +70572,7 @@ creation_date: 2009-05-26T09:54:51Z id: HP:0009960 name: Complete duplication of the phalanges of the 3rd finger def: "A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] -synonym: "Complete duplication of middle finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024143 is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0009998 ! Complete duplication of phalanx of hand @@ -70448,7 +70583,7 @@ creation_date: 2009-05-26T12:46:36Z id: HP:0009961 name: Partial duplication of the phalanges of the 3rd finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] -synonym: "Partial duplication of middle finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024142 is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand @@ -70460,7 +70595,7 @@ id: HP:0009962 name: Duplication of the distal phalanx of the 3rd finger def: "Partial or complete duplication of the distal phalanx of middle finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 3rd finger" EXACT [] -synonym: "Partial/complete duplication of the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021363 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand @@ -70472,7 +70607,7 @@ creation_date: 2009-05-26T12:46:36Z id: HP:0009963 name: Duplication of the middle phalanx of the 3rd finger def: "Partial or complete duplication of the middle phalanx of middle finger." [HPO:probinson] -synonym: "Duplication of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021362 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger @@ -70485,7 +70620,7 @@ creation_date: 2009-05-26T12:46:36Z id: HP:0009964 name: Duplication of the proximal phalanx of the 3rd finger def: "Partial or complete duplication of the third proximal phalanx of hand." [HPO:probinson] -synonym: "Duplication of the proximal bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the proximal bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021361 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger @@ -70498,7 +70633,7 @@ creation_date: 2009-05-26T12:46:36Z id: HP:0009965 name: Complete duplication of the distal phalanx of the 3rd finger def: "Complete duplication of the distal phalanx of middle finger" [HPO:probinson] -synonym: "Complete duplication of the outermost bone of the 3rd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024141 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger @@ -70510,7 +70645,7 @@ creation_date: 2009-05-26T12:49:35Z id: HP:0009966 name: Complete duplication of the middle phalanx of the 3rd finger def: "Complete duplication of the middle phalanx of middle finger." [HPO:probinson] -synonym: "Complete duplication of the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024140 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger @@ -70522,7 +70657,7 @@ creation_date: 2009-05-26T12:49:35Z id: HP:0009967 name: Complete duplication of the proximal phalanx of the 3rd finger def: "Complete duplication of the third proximal phalanx of hand." [HPO:probinson] -synonym: "Complete duplication of the innermost bone of the 3rd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the innermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024139 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger @@ -70535,8 +70670,8 @@ id: HP:0009968 name: Partial duplication of the distal phalanx of the 3rd finger def: "Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 3rd finger" EXACT [] -synonym: "Notched outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021360 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger @@ -70548,7 +70683,7 @@ creation_date: 2009-05-26T12:49:59Z id: HP:0009969 name: Partial duplication of the middle phalanx of the 3rd finger def: "Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] -synonym: "Partial duplication of the middle bone of the 3rd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024138 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger @@ -70560,7 +70695,7 @@ creation_date: 2009-05-26T12:49:59Z id: HP:0009970 name: Partial duplication of the proximal phalanx of the 3rd finger def: "Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] -synonym: "Partial duplication of the proximal bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the proximal bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024137 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger @@ -70571,7 +70706,7 @@ creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009971 name: Polydactyly affecting the 4th finger -synonym: "Extra ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024136 is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0006159 ! Mesoaxial hand polydactyly @@ -70582,7 +70717,7 @@ creation_date: 2009-05-26T02:19:06Z id: HP:0009972 name: Duplication of phalanx of 4th finger def: "This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] -synonym: "Duplication of bones of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 4th finger" EXACT [] xref: UMLS:C4021359 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger @@ -70594,7 +70729,7 @@ creation_date: 2009-05-26T02:19:28Z id: HP:0009973 name: Complete duplication of the phalanges of the 4th finger def: "A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] -synonym: "Complete duplication of the bones of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024135 is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0009998 ! Complete duplication of phalanx of hand @@ -70605,7 +70740,7 @@ creation_date: 2009-05-26T02:20:08Z id: HP:0009974 name: Partial duplication of the phalanges of the 4th finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] -synonym: "Partial duplication of the bones of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024134 is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand @@ -70617,7 +70752,7 @@ id: HP:0009975 name: Duplication of the distal phalanx of the 4th finger def: "Partial or complete duplication of the distal phalanx of ring finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 4th finger" EXACT [] -synonym: "Partial/complete duplication of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021358 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand @@ -70629,7 +70764,7 @@ creation_date: 2009-05-26T02:20:08Z id: HP:0009976 name: Duplication of the middle phalanx of the 4th finger def: "Partial or complete duplication of the middle phalanx of ring finger." [HPO:probinson] -synonym: "Partial/complete duplication of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 4th finger" EXACT [] xref: UMLS:C4021357 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger @@ -70642,7 +70777,7 @@ creation_date: 2009-05-26T02:20:08Z id: HP:0009977 name: Duplication of the proximal phalanx of the 4th finger def: "Partial or complete duplication of the fourth proximal phalanx of hand." [HPO:probinson] -synonym: "Duplication of the proximal bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the proximal bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 4th finger" EXACT [] xref: UMLS:C4021356 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger @@ -70655,7 +70790,7 @@ creation_date: 2009-05-26T02:20:08Z id: HP:0009978 name: Complete duplication of the distal phalanx of the 4th finger def: "Complete duplication of the distal phalanx of ring finger." [HPO:probinson] -synonym: "Complete duplication of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024133 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger @@ -70667,7 +70802,7 @@ creation_date: 2009-05-26T02:20:23Z id: HP:0009979 name: Complete duplication of the middle phalanx of the 4th finger def: "Complete duplication of the middle phalanx of ring finger." [HPO:probinson] -synonym: "Complete duplication of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024132 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger @@ -70679,7 +70814,7 @@ creation_date: 2009-05-26T02:20:23Z id: HP:0009980 name: Complete duplication of the proximal phalanx of the 4th finger def: "Complete duplication of the fourth proximal phalanx of hand." [HPO:probinson] -synonym: "Complete duplication of the proximal bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the proximal bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024131 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger @@ -70692,8 +70827,8 @@ id: HP:0009981 name: Partial duplication of the distal phalanx of the 4th finger def: "Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 4th finger" EXACT [] -synonym: "Notched outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021355 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger @@ -70705,7 +70840,7 @@ creation_date: 2009-05-26T02:20:37Z id: HP:0009982 name: Partial duplication of the middle phalanx of the 4th finger def: "Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] -synonym: "Partial duplication of the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024130 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger @@ -70717,7 +70852,7 @@ creation_date: 2009-05-26T02:20:37Z id: HP:0009983 name: Partial duplication of the proximal phalanx of the 4th finger def: "Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] -synonym: "Partial duplication of the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024129 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger @@ -70729,10 +70864,10 @@ creation_date: 2009-05-26T02:20:37Z id: HP:0009985 name: Duplication of phalanx of 5th finger def: "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] -synonym: "Partial/complete duplication of little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 5th finger" EXACT [] -synonym: "Partial/complete duplication of pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial/complete duplication of pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial/complete duplication of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021354 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009997 ! Duplication of phalanx of hand @@ -70743,9 +70878,9 @@ creation_date: 2009-05-26T02:23:38Z id: HP:0009986 name: Complete duplication of the phalanges of the 5th finger def: "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] -synonym: "Complete duplication of the little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024128 is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0009998 ! Complete duplication of phalanx of hand @@ -70756,9 +70891,9 @@ creation_date: 2009-05-26T02:24:20Z id: HP:0009987 name: Partial duplication of the phalanges of the 5th finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] -synonym: "Partial duplication of the little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024127 is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand @@ -70769,9 +70904,9 @@ creation_date: 2009-05-26T02:24:20Z id: HP:0009988 name: Duplication of the distal phalanx of the 5th finger def: "Partial or complete duplication of the distal phalanx of little finger." [HPO:probinson] -synonym: "Duplication of the outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021353 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger @@ -70784,9 +70919,9 @@ creation_date: 2009-05-26T02:24:20Z id: HP:0009989 name: Duplication of the middle phalanx of the 5th finger def: "Partial or complete duplication of the fifth middle phalanx of hand." [HPO:probinson] -synonym: "Duplication of the middle little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the middle pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the middle pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 5th finger" EXACT [] xref: UMLS:C4021352 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger @@ -70799,9 +70934,9 @@ creation_date: 2009-05-26T02:24:20Z id: HP:0009990 name: Duplication of the proximal phalanx of the 5th finger def: "Partial or complete duplication of the fifth proximal phalanx of hand." [HPO:probinson] -synonym: "Duplication of the innermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the innermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the innermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021351 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger @@ -70814,9 +70949,9 @@ creation_date: 2009-05-26T02:24:20Z id: HP:0009991 name: Complete duplication of the distal phalanx of the 5th finger def: "Complete duplication of the distal phalanx of little finger." [HPO:probinson] -synonym: "Complete duplication of the outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024126 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger @@ -70828,9 +70963,9 @@ creation_date: 2009-05-26T02:24:33Z id: HP:0009992 name: Complete duplication of the middle phalanx of the 5th finger def: "Complete duplication of the fifth middle phalanx of hand." [HPO:probinson] -synonym: "Complete duplication of the middle little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the middle pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the middle pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024125 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger @@ -70842,9 +70977,9 @@ creation_date: 2009-05-26T02:24:33Z id: HP:0009993 name: Complete duplication of the proximal phalanx of the 5th finger def: "Complete duplication of the fifth proximal phalanx of hand." [HPO:probinson] -synonym: "Complete duplication of the innermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the innermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the innermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024124 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger @@ -70857,10 +70992,10 @@ id: HP:0009994 name: Partial duplication of the distal phalanx of the 5th finger def: "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 5th finger" EXACT [] -synonym: "Notched outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021350 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger @@ -70872,9 +71007,9 @@ creation_date: 2009-05-26T02:24:47Z id: HP:0009995 name: Partial duplication of the middle phalanx of the 5th finger def: "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] -synonym: "Partial duplication of the middle little finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the middle pinkie finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the middle pinky finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024123 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger @@ -70886,9 +71021,9 @@ creation_date: 2009-05-26T02:24:47Z id: HP:0009996 name: Partial duplication of the proximal phalanx of the 5th finger def: "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] -synonym: "Partial duplication of the innermost little finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the innermost pinkie finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the innermost pinky finger bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024122 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger @@ -70912,7 +71047,7 @@ creation_date: 2009-05-26T02:28:25Z id: HP:0009998 name: Complete duplication of phalanx of hand def: "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] -synonym: "Complete duplication of hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024121 is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens @@ -70922,7 +71057,7 @@ creation_date: 2009-05-26T02:30:16Z id: HP:0009999 name: Partial duplication of the phalanx of hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] -synonym: "Partial duplication of hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024120 is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens @@ -70932,7 +71067,7 @@ creation_date: 2009-05-26T02:30:35Z id: HP:0010000 name: Complete duplication of the proximal phalanges of the hand def: "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] -synonym: "Complete duplication of the innermost bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the innermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024119 is_a: HP:0009998 ! Complete duplication of phalanx of hand is_a: HP:0010006 ! Duplication of the proximal phalanx of hand @@ -70944,7 +71079,7 @@ id: HP:0010001 name: Complete duplication of the distal phalanges of the hand def: "A complete duplication affecting one or more of the distal phalanges of the hand." [HPO:sdoelken] comment: As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism. -synonym: "Complete duplication of the outermost bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024118 is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009998 ! Complete duplication of phalanx of hand @@ -70955,7 +71090,7 @@ creation_date: 2009-05-26T03:55:02Z id: HP:0010002 name: Complete duplication of the middle phalanges of the hand def: "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism." [HPO:sdoelken] -synonym: "Complete duplication of the middle bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024117 is_a: HP:0009998 ! Complete duplication of phalanx of hand is_a: HP:0010008 ! Duplication of the middle phalanx of hand @@ -70966,7 +71101,7 @@ creation_date: 2009-05-26T03:55:02Z id: HP:0010003 name: Partial duplication of the proximal phalanges of the hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] -synonym: "Partial duplication of the innermost bones of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the innermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024116 is_a: HP:0009999 ! Partial duplication of the phalanx of hand is_a: HP:0010006 ! Duplication of the proximal phalanx of hand @@ -70979,7 +71114,7 @@ name: Partial duplication of the distal phalanges of the hand alt_id: HP:0006196 def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Bifid terminal phalanges of the hand" EXACT [] -synonym: "Partial duplication of the outermost bone of the hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021348 is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009999 ! Partial duplication of the phalanx of hand @@ -70990,7 +71125,7 @@ creation_date: 2009-05-26T03:55:29Z id: HP:0010005 name: Partial duplication of the middle phalanges of the hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] -synonym: "Partial duplication of the middle bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024115 is_a: HP:0009999 ! Partial duplication of the phalanx of hand is_a: HP:0010008 ! Duplication of the middle phalanx of hand @@ -71001,7 +71136,7 @@ creation_date: 2009-05-26T03:55:29Z id: HP:0010006 name: Duplication of the proximal phalanx of hand def: "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] -synonym: "Duplication of the innermost bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the innermost bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanges of the hand" EXACT [] xref: UMLS:C4021347 is_a: HP:0009997 ! Duplication of phalanx of hand @@ -71012,7 +71147,7 @@ creation_date: 2009-05-26T05:29:46Z id: HP:0010008 name: Duplication of the middle phalanx of hand def: "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] -synonym: "Duplication of the middle bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanges of the hand" EXACT [] xref: UMLS:C4021346 is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand @@ -71026,7 +71161,7 @@ id: HP:0010009 name: Abnormality of the 1st metacarpal def: "A structural anomaly of the first metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. -synonym: "Abnormality of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024114 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens @@ -71036,7 +71171,7 @@ creation_date: 2009-05-27T03:35:21Z id: HP:0010010 name: Abnormality of the 2nd metacarpal def: "Any abnormality of the second metacarpal bone." [HPO:curators] -synonym: "Abnormality of the 2nd long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024113 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens @@ -71046,7 +71181,7 @@ creation_date: 2009-05-27T03:35:21Z id: HP:0010011 name: Abnormality of the 3rd metacarpal def: "Any abnormality of the third metacarpal bone." [HPO:curators] -synonym: "Abnormality of the 3rd long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024112 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens @@ -71056,7 +71191,7 @@ creation_date: 2009-05-27T03:35:21Z id: HP:0010012 name: Abnormality of the 4th metacarpal def: "Any abnormality of the fourth metacarpal bone." [HPO:curators] -synonym: "Abnormality of the 4th long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024111 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens @@ -71066,7 +71201,7 @@ creation_date: 2009-05-27T03:35:21Z id: HP:0010013 name: Abnormality of the 5th metacarpal def: "Any abnormality of the fifth metacarpal bone." [HPO:curators] -synonym: "Abnormality of the 5th long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024110 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens @@ -71076,7 +71211,7 @@ creation_date: 2009-05-27T03:35:21Z id: HP:0010014 name: Abnormality of the epiphysis of the 1st metacarpal def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays." [HPO:curators] -synonym: "Abnormality of the end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024109 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010009 ! Abnormality of the 1st metacarpal @@ -71087,7 +71222,7 @@ creation_date: 2009-05-27T03:43:11Z [Term] id: HP:0010015 name: Absent epiphysis of the 1st metacarpal -synonym: "Absent end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024108 is_a: HP:0009196 ! Absent metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal @@ -71099,7 +71234,7 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010016 name: Bracket epiphysis of the 1st metacarpal def: "An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate." [HPO:probinson, pmid:24432108] -synonym: "Bracket shaped end part of 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024107 is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand @@ -71111,7 +71246,7 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010017 name: Cone-shaped epiphysis of the 1st metacarpal def: "A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance." [HPO:probinson] -synonym: "Cone-shaped end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024106 is_a: HP:0006059 ! Cone-shaped metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal @@ -71123,7 +71258,7 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010018 name: Enlarged epiphysis of the 1st metacarpal def: "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms." [HPO:probinson] -synonym: "Enlarged end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024105 is_a: HP:0006134 ! Enlarged metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal @@ -71135,7 +71270,7 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010019 name: Fragmentation of the epiphysis of the 1st metacarpal def: "Epiphysis of the 1st metacarpal having multiple bony fragments." [HPO:probinson] -synonym: "Fragmentation of the end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024104 is_a: HP:0009189 ! Fragmentation of the metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal @@ -71147,7 +71282,7 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010020 name: Irregular epiphysis of the 1st metacarpal def: "Uneven radiographic opacity of the epiphysis of the 1st metacarpal." [HPO:probinson] -synonym: "Irregular end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024103 is_a: HP:0009190 ! Irregular epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal @@ -71159,7 +71294,7 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010021 name: Ivory epiphysis of the 1st metacarpal def: "The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] -synonym: "Increased bone density of end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024102 is_a: HP:0009191 ! Ivory epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal @@ -71183,7 +71318,7 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010023 name: Small epiphysis of the 1st metacarpal def: "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms." [HPO:probinson] -synonym: "Small end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024100 is_a: HP:0009194 ! Small epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal @@ -71195,7 +71330,7 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010024 name: Epiphyseal stippling of the first metacarpal def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone." [HPO:probinson] -synonym: "Speckled calcifications in the end part of the first long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphysis of the 1st metacarpal" EXACT [] xref: UMLS:C4021345 is_a: HP:0009195 ! Epiphyseal stippling of the metacarpals @@ -71207,7 +71342,7 @@ creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010025 name: Triangular epiphysis of the 1st metacarpal -synonym: "Triangular end part of the 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024099 is_a: HP:0009171 ! Triangular epiphyses of the metacarpals is_a: HP:0009696 ! Triangular epiphyses of the thumb @@ -71219,8 +71354,8 @@ creation_date: 2009-05-27T04:02:50Z id: HP:0010026 name: Aplasia/Hypoplasia of the 1st metacarpal def: "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators] -synonym: "Absent/small 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024098 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb @@ -71232,7 +71367,7 @@ creation_date: 2009-05-27T04:24:30Z id: HP:0010027 name: Broad 1st metacarpal def: "Increased width of the 1st metacarapal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Wide 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024097 is_a: HP:0001230 ! Broad metacarpals is_a: HP:0009852 ! Broad proximal phalanges of the hand @@ -71244,7 +71379,7 @@ creation_date: 2009-05-27T04:24:30Z id: HP:0010028 name: Bullet-shaped 1st metacarpal def: "The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\")." [HPO:probinson] -synonym: "Bullet-shaped 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024096 is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens @@ -71254,7 +71389,7 @@ creation_date: 2009-05-27T04:24:30Z id: HP:0010029 name: Curved 1st metacarpal def: "A deviation from the normal straight shape of the first metacarpal." [HPO:probinson] -synonym: "Curved 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024095 is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens @@ -71275,7 +71410,7 @@ creation_date: 2009-05-27T04:24:30Z id: HP:0010031 name: Patchy sclerosis of the 1st metacarpal def: "Uneven increase in bone density within the 1st metacarpal." [HPO:probinson] -synonym: "Uneven increase in bone density in 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024093 is_a: HP:0010009 ! Abnormality of the 1st metacarpal is_a: HP:0100914 ! Sclerosis of the 1st metacarpal @@ -71287,7 +71422,7 @@ id: HP:0010033 name: Triangular shaped 1st metacarpal def: "This term applies to a triangular shaped 1st metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). -synonym: "Triangular shaped 1st long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024092 is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens @@ -71307,7 +71442,7 @@ synonym: "First metacarpals hypoplastic" EXACT [] synonym: "Hypoplastic 1st metacarpal" EXACT [] synonym: "Short first metacarpal" EXACT [] synonym: "Short first metacarpals" EXACT [] -synonym: "Shortened 1st long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Shortened 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849311 is_a: HP:0009660 ! Short phalanx of the thumb is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal @@ -71320,7 +71455,7 @@ id: HP:0010035 name: Aplasia of the 1st metacarpal alt_id: HP:0006027 def: "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Absent 1st long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent first metacarpal" EXACT [] xref: UMLS:C1838610 is_a: HP:0009659 ! Partial absence of thumb @@ -71334,8 +71469,8 @@ creation_date: 2009-05-27T04:25:14Z id: HP:0010036 name: Aplasia/Hypoplasia of the 2nd metacarpal def: "Aplasia or Hypoplasia affecting the 2nd metacarpal." [HPO:curators] -synonym: "Absent/small 2nd long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 2nd long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024091 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010010 ! Abnormality of the 2nd metacarpal @@ -71345,7 +71480,7 @@ creation_date: 2009-05-27T04:34:44Z [Term] id: HP:0010037 name: Aplasia of the 2nd metacarpal -synonym: "Absent 2nd long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024090 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones @@ -71359,7 +71494,7 @@ alt_id: HP:0006231 def: "Short second metacarpal bone because of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic 2nd metacarpal" RELATED [] synonym: "Rudimentary 2nd metacarpal" EXACT [] -synonym: "Shortened 2nd long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Shortened 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1969397 xref: UMLS:C4020774 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal @@ -71371,8 +71506,8 @@ creation_date: 2009-05-27T04:35:04Z id: HP:0010039 name: Aplasia/Hypoplasia of the 3rd metacarpal def: "Aplasia or Hypoplasia affecting the 3rd metacarpal." [HPO:curators] -synonym: "Absent/small 3rd long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 3rd long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024089 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010011 ! Abnormality of the 3rd metacarpal @@ -71382,7 +71517,7 @@ creation_date: 2009-05-27T04:35:51Z [Term] id: HP:0010040 name: Aplasia of the 3rd metacarpal -synonym: "Absent 3rd long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024088 is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones @@ -71398,7 +71533,7 @@ alt_id: HP:0006120 def: "Short third metacarpal bone." [HPO:probinson] synonym: "Hypoplastic 3rd metacarpal" EXACT [] synonym: "Short third metacarpals" EXACT [] -synonym: "Shortened 3rd long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Shortened 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small 3rd metacarpals" EXACT [] xref: UMLS:C1850631 is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal @@ -71410,8 +71545,8 @@ creation_date: 2009-05-27T04:36:08Z id: HP:0010042 name: Aplasia/Hypoplasia of the 4th metacarpal def: "Aplasia or Hypoplasia affecting the 4th metacarpal." [HPO:curators] -synonym: "Absent/small 4th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 4th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024087 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010012 ! Abnormality of the 4th metacarpal @@ -71421,7 +71556,7 @@ creation_date: 2009-05-27T04:36:49Z [Term] id: HP:0010043 name: Aplasia of the 4th metacarpal -synonym: "Absent 4th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024086 is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones @@ -71436,7 +71571,7 @@ def: "Short fourth metacarpal bone." [HPO:probinson] synonym: "Hypoplastic fourth metacarpal" EXACT [] synonym: "Short 4th metacarpals" EXACT [] synonym: "Short fourth metacarpals" EXACT [] -synonym: "Shortened 4th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Shortened 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1840309 is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010049 ! Short metacarpal @@ -71447,8 +71582,8 @@ creation_date: 2009-05-27T04:37:00Z id: HP:0010045 name: Aplasia/Hypoplasia of the 5th metacarpal def: "Aplasia or Hypoplasia affecting the 5th metacarpal." [HPO:curators] -synonym: "Absent/small 5th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 5th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024085 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010013 ! Abnormality of the 5th metacarpal @@ -71459,7 +71594,7 @@ creation_date: 2009-05-27T04:37:31Z id: HP:0010046 name: Aplasia of the 5th metacarpal alt_id: HP:0006103 -synonym: "Absent 5th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent 5th metacarpal" EXACT [] xref: UMLS:C1867929 is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal @@ -71478,7 +71613,7 @@ synonym: "Fifth metacarpal hypoplasia" EXACT [] synonym: "Hypoplastic 5th metacarpal" EXACT [] synonym: "Short fifth metacarpal" EXACT [] synonym: "Short fifth metacarpals" EXACT [] -synonym: "Shortened 5th long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Shortened 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861388 is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal is_a: HP:0010049 ! Short metacarpal @@ -71491,7 +71626,7 @@ name: Aplasia of metacarpal bones alt_id: HP:0005911 def: "Developmental defect associated with absence of one or more metacarpal bones." [HPO:probinson] subset: hposlim_core -synonym: "Absent long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent metacarpal" EXACT [] synonym: "Absent metacarpals" EXACT [] xref: UMLS:C1846473 @@ -71516,7 +71651,7 @@ synonym: "Hypoplastic metacarpal" EXACT [] synonym: "Metacarpal hypoplasia" EXACT [] synonym: "Short metacarpal bones" RELATED [HPO:skoehler] synonym: "Short metacarpals" EXACT [] -synonym: "Shortened long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Shortened long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Shortened metacarpals" EXACT [] synonym: "Shortening of metacarpals" EXACT [] xref: UMLS:C1837084 @@ -71529,7 +71664,7 @@ id: HP:0010051 name: Deviation of the hallux alt_id: HP:0004700 def: "Displacement of the big toe from its normal position." [HPO:curators] -synonym: "Displacement of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Displacement of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Displacement of the hallux" EXACT [] xref: UMLS:C4021344 is_a: HP:0001844 ! Abnormality of the hallux @@ -71541,7 +71676,7 @@ creation_date: 2009-05-29T11:36:44Z id: HP:0010052 name: Abnormality of the proximal phalanx of the hallux def: "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] -synonym: "Abnormal innermost big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024084 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes @@ -71551,7 +71686,7 @@ creation_date: 2009-05-29T11:47:46Z [Term] id: HP:0010053 name: Abnormality of the distal phalanx of the hallux -synonym: "Abnormality of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024083 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes @@ -71563,7 +71698,7 @@ id: HP:0010054 name: Abnormality of the first metatarsal bone def: "An anomaly of the first metatarsal bone." [HPO:probinson] comment: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal. -synonym: "Abnormality of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024082 is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: doelkens @@ -71580,11 +71715,11 @@ def: "Visible increase in width of the hallux without an increase in the dorso-v comment: Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. subset: hposlim_core synonym: "Abnormally broad great toes" EXACT [] -synonym: "Broad big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad great toe" EXACT [] synonym: "Broad great toes" EXACT [] synonym: "Broad halluces" EXACT [HPO:skoehler] -synonym: "Wide big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867131 is_a: HP:0001837 ! Broad toe is_a: HP:0001844 ! Abnormality of the hallux @@ -71594,7 +71729,7 @@ creation_date: 2009-05-29T11:56:24Z [Term] id: HP:0010056 name: Abnormality of the epiphyses of the hallux -synonym: "Abnormality of the end part of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024081 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010160 ! Abnormality of the epiphyses of the toes @@ -71604,7 +71739,7 @@ creation_date: 2009-05-29T12:00:08Z [Term] id: HP:0010057 name: Abnormality of the phalanges of the hallux -synonym: "Abnormal big toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal big toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024080 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010161 ! Abnormality of the phalanges of the toes @@ -71614,8 +71749,8 @@ creation_date: 2009-05-29T12:00:08Z [Term] id: HP:0010058 name: Aplasia/Hypoplasia of the phalanges of the hallux -synonym: "Absent/small big toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped big toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024079 is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux is_a: HP:0010057 ! Abnormality of the phalanges of the hallux @@ -71627,9 +71762,9 @@ creation_date: 2009-05-29T12:10:46Z id: HP:0010059 name: Broad hallux phalanx def: "An increase in width in one or more phalanges of the big toe." [HPO:probinson] -synonym: "Broad bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad phalanges of the hallux" EXACT [] -synonym: "Wide bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021343 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010174 ! Broad phalanx of the toes @@ -71640,7 +71775,7 @@ creation_date: 2009-05-29T12:10:46Z id: HP:0010060 name: Bullet-shaped hallux phalanx def: "An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the hallux" EXACT [] xref: UMLS:C4021342 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux @@ -71652,7 +71787,7 @@ creation_date: 2009-05-29T12:10:46Z id: HP:0010061 name: Curved hallux phalanx def: "A deviation from the normal straight form of one or more phalanges of the big toe." [HPO:probinson] -synonym: "Curve bones of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curve bones of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the hallux" EXACT [] xref: UMLS:C4021341 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux @@ -71674,7 +71809,7 @@ id: HP:0010063 name: Patchy sclerosis of hallux phalanx def: "Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the hallux" EXACT [] -synonym: "Uneven increase in bone density in big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021340 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010178 ! Patchy sclerosis of toe phalanx @@ -71686,7 +71821,7 @@ creation_date: 2009-05-29T12:10:46Z id: HP:0010064 name: Symphalangism affecting the phalanges of the hallux alt_id: HP:0004687 -synonym: "Fused bit toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused bit toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "hallucal symphalangism" EXACT [] xref: UMLS:C1836216 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux @@ -71698,7 +71833,7 @@ creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010065 name: Triangular shaped phalanges of the hallux -synonym: "Triangular shaped bones of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped bones of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024077 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010180 ! Triangular shaped phalanges of the toes @@ -71713,7 +71848,7 @@ alt_id: HP:0005785 alt_id: HP:0005851 def: "Partial or complete duplication of one or more phalanx of big toe." [HPO:probinson] synonym: "Duplicated hallux" EXACT [] -synonym: "Duplication of big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of great toes" EXACT layperson [] synonym: "Duplication of phalanx of big toe" EXACT [] synonym: "Hallucal duplication" EXACT [] @@ -71729,8 +71864,8 @@ creation_date: 2009-05-29T12:10:46Z id: HP:0010067 name: Aplasia/hypoplasia of the 1st metatarsal def: "Absence or underdevelopment of the first metatarsal bone." [HPO:probinson] -synonym: "Absent/small 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024076 is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens @@ -71745,7 +71880,7 @@ alt_id: HP:0008139 def: "Increased side-to-side width of the first metatarsal bone." [HPO:probinson] synonym: "Broad 1st metatarsal" EXACT [] synonym: "Enlarged first metatarsal" EXACT [] -synonym: "Wide 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855899 is_a: HP:0001783 ! Broad metatarsal is_a: HP:0010054 ! Abnormality of the first metatarsal bone @@ -71756,7 +71891,7 @@ creation_date: 2009-05-29T12:13:57Z id: HP:0010069 name: Bullet-shaped 1st metatarsal def: "An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024075 is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens @@ -71766,7 +71901,7 @@ creation_date: 2009-05-29T12:13:57Z id: HP:0010070 name: Curved 1st metatarsal def: "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone." [HPO:probinson] -synonym: "Curved 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024074 is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens @@ -71786,7 +71921,7 @@ creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010072 name: Patchy sclerosis of the 1st metatarsal -synonym: "Uneven increase in bone density of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024072 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx @@ -71798,7 +71933,7 @@ creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010073 name: Synostosis involving the 1st metatarsal -synonym: "Fusion involving the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024071 is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens @@ -71807,7 +71942,7 @@ creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010074 name: Triangular shaped 1st metatarsal -synonym: "Triangular shaped 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024070 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010065 ! Triangular shaped phalanges of the hallux @@ -71818,7 +71953,7 @@ creation_date: 2009-05-29T12:13:57Z id: HP:0010075 name: Duplication of the 1st metatarsal def: "A developmental defect consisting in the duplication of the first metatarsal bone." [HPO:probinson] -synonym: "Duplicated 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplicated 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplicated first metatarsals" EXACT [] xref: UMLS:C1851855 is_a: HP:0001449 ! Duplication of metatarsal bones @@ -71829,8 +71964,8 @@ creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010076 name: Aplasia/Hypoplasia of the distal phalanx of the hallux -synonym: "Absent/small outermost big toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost big toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024069 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux @@ -71842,8 +71977,8 @@ creation_date: 2009-05-29T12:16:28Z id: HP:0010077 name: Broad distal phalanx of the hallux def: "An increase in width of the distal phalanx of the big toe." [HPO:probinson] -synonym: "Broad outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024068 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010059 ! Broad hallux phalanx @@ -71855,7 +71990,7 @@ creation_date: 2009-05-29T12:16:28Z id: HP:0010078 name: Bullet-shaped distal phalanx of the hallux def: "An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024067 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped hallux phalanx @@ -71867,7 +72002,7 @@ creation_date: 2009-05-29T12:16:28Z id: HP:0010079 name: Curved distal phalanx of the hallux def: "A deviation from the normal straight form of the distal phalanx of the big toe." [HPO:probinson] -synonym: "Curved outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024066 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010061 ! Curved hallux phalanx @@ -71888,7 +72023,7 @@ creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010081 name: Patchy sclerosis of the distal phalanx of the hallux -synonym: "Uneven increase in bone density in the outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024064 is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx @@ -71899,7 +72034,7 @@ creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010082 name: Symphalangism affecting the distal phalanx of the hallux -synonym: "Fused outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024063 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux @@ -71911,7 +72046,7 @@ creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010083 name: Triangular shaped distal phalanx of the hallux -synonym: "Triangular shaped outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024062 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010065 ! Triangular shaped phalanges of the hallux @@ -71922,7 +72057,7 @@ creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010084 name: Duplication of the distal phalanx of the hallux -synonym: "Duplication of the outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the hallux" EXACT [] xref: UMLS:C4021339 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux @@ -71934,8 +72069,8 @@ creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010085 name: Aplasia/Hypoplasia of the proximal phalanx of the hallux -synonym: "Absent/small innermost big toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost big toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024061 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux @@ -71947,7 +72082,7 @@ creation_date: 2009-05-29T12:17:16Z id: HP:0010086 name: Broad proximal phalanx of the hallux def: "Increased width of proximal phalanx of big toe." [HPO:probinson] -synonym: "Broad innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad proximal phalanx of the big toe" EXACT [] xref: UMLS:C4021338 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux @@ -71960,7 +72095,7 @@ creation_date: 2009-05-29T12:17:16Z id: HP:0010087 name: Bullet-shaped proximal phalanx of the hallux def: "An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024060 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped hallux phalanx @@ -71972,7 +72107,7 @@ creation_date: 2009-05-29T12:17:16Z id: HP:0010088 name: Curved proximal phalanx of the hallux def: "A deviation from the normal straight form of the proximal phalanx of the big toe." [HPO:probinson] -synonym: "Curved innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024059 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010061 ! Curved hallux phalanx @@ -71993,7 +72128,7 @@ creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010090 name: Patchy sclerosis of the proximal phalanx of the hallux -synonym: "Uneven increase in bone density in the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024057 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx @@ -72005,7 +72140,7 @@ creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010091 name: Symphalangism affecting the proximal phalanx of the hallux -synonym: "Fused innermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024056 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010064 ! Symphalangism affecting the phalanges of the hallux @@ -72016,7 +72151,7 @@ creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010092 name: Triangular shaped proximal phalanx of the hallux -synonym: "Triangular shaped innermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024055 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010065 ! Triangular shaped phalanges of the hallux @@ -72028,7 +72163,7 @@ creation_date: 2009-05-29T12:17:16Z id: HP:0010093 name: Duplication of the proximal phalanx of the hallux def: "Partial or complete duplication of the proximal phalanx of big toe." [HPO:sdoelken] -synonym: "Duplication of the innermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024054 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010066 ! Duplication of phalanx of hallux @@ -72040,7 +72175,7 @@ creation_date: 2009-05-29T12:17:16Z id: HP:0010094 name: Complete duplication of the proximal phalanx of the hallux def: "Complete duplication of the proximal phalanx of big toe." [HPO:sdoelken] -synonym: "Complete duplication of the innermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024053 is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of hallux phalanx @@ -72051,7 +72186,7 @@ creation_date: 2009-05-29T12:18:59Z id: HP:0010095 name: Partial duplication of the proximal phalanx of the hallux def: "Partial duplication of the proximal phalanx of big toe." [HPO:sdoelken] -synonym: "Partial duplication of the innermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024052 is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux @@ -72061,7 +72196,7 @@ creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010096 name: Complete duplication of the distal phalanx of the hallux -synonym: "Complete duplication of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024051 is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of hallux phalanx @@ -72073,8 +72208,8 @@ id: HP:0010097 name: Partial duplication of the distal phalanx of the hallux alt_id: HP:0008091 synonym: "Bifid distal phalanx of hallux" EXACT [] -synonym: "Notched outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021337 is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux @@ -72086,7 +72221,7 @@ id: HP:0010098 name: Complete duplication of the 1st metatarsal alt_id: HP:0008121 def: "A developmental defect consisting in the complete duplication of the first metatarsal bone." [HPO:probinson] -synonym: "Complete duplication of the 1st long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024050 is_a: HP:0010075 ! Duplication of the 1st metatarsal created_by: doelkens @@ -72096,7 +72231,7 @@ creation_date: 2009-05-29T12:20:12Z id: HP:0010099 name: Partial duplication of the 1st metatarsal def: "A developmental defect consisting in the duplication of part of the first metatarsal bone." [HPO:probinson] -synonym: "Partial duplication of the 1st long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024049 is_a: HP:0010075 ! Duplication of the 1st metatarsal is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux @@ -72107,7 +72242,7 @@ creation_date: 2009-05-29T12:20:12Z id: HP:0010100 name: Complete duplication of hallux phalanx def: "Complete duplication of one or more phalanx of big toe." [HPO:probinson] -synonym: "Complete duplication of big toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of big toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the phalanges of the hallux" EXACT [] xref: UMLS:C4021336 is_a: HP:0010066 ! Duplication of phalanx of hallux @@ -72118,7 +72253,7 @@ creation_date: 2009-05-29T12:22:12Z id: HP:0010101 name: Partial duplication of the phalanges of the hallux alt_id: HP:0004678 -synonym: "Partial duplication of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "partial duplication of hallux" EXACT [] xref: UMLS:C1855005 is_a: HP:0010066 ! Duplication of phalanx of hallux @@ -72128,7 +72263,7 @@ creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010102 name: Aplasia of the distal phalanx of the hallux -synonym: "Absent outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024048 is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010110 ! Aplasia of the phalanges of the hallux @@ -72143,7 +72278,7 @@ def: "Underdevelopment (hypoplasia) of the distal phalanx of big toe." [HPO:prob synonym: "Hypoplastic/small distal phalanx of the hallux" EXACT [] synonym: "Small distal phalanx of big toe" EXACT [] synonym: "Small distal phalanx of hallux" EXACT [] -synonym: "Small outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021335 is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010111 ! Short phalanx of hallux @@ -72155,7 +72290,7 @@ id: HP:0010104 name: Absent first metatarsal alt_id: HP:0006124 def: "A developmental defect characterized by the absence of the first metatarsal bone." [HPO:probinson] -synonym: "Absent 1st long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent 1st metatarsal" EXACT [] synonym: "Aplasia of the 1st metatarsal" EXACT [] xref: UMLS:C1863382 @@ -72171,7 +72306,7 @@ alt_id: HP:0004680 def: "Short first metatarsal bone." [HPO:probinson] synonym: "First metatarsal hypoplasia" EXACT [] synonym: "First metatarsals hypoplastic" EXACT [] -synonym: "Short 1st long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1841688 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010743 ! Short metatarsal @@ -72181,7 +72316,7 @@ creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010106 name: Aplasia of the proximal phalanx of the hallux -synonym: "Absent innermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024047 is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010110 ! Aplasia of the phalanges of the hallux @@ -72196,7 +72331,7 @@ alt_id: HP:0008101 alt_id: HP:0008129 def: "Underdevelopment (hypoplasia) of the proximal phalanx of big toe." [HPO:probinson] synonym: "Hypoplastic proximal phalanx of the hallux" EXACT [] -synonym: "Short innermost big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanges of halluces" EXACT [] synonym: "Short proximal phalanx of halluces" EXACT [] synonym: "Small proximal phalanx of big toe" EXACT [] @@ -72217,7 +72352,7 @@ alt_id: HP:0008105 def: "Underdevelopment (hypoplasia) of the big toe." [HPO:probinson] synonym: "Hypoplastic big toes" EXACT [] synonym: "Hypoplastic hallux" EXACT [] -synonym: "Short big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short halluces" EXACT [] synonym: "Small hallux" EXACT [] xref: UMLS:C1865992 @@ -72229,7 +72364,7 @@ creation_date: 2009-05-29T12:46:14Z [Term] id: HP:0010110 name: Aplasia of the phalanges of the hallux -synonym: "Absent bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024046 is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010745 ! Aplasia of the phalanges of the toes @@ -72241,7 +72376,7 @@ id: HP:0010111 name: Short phalanx of hallux def: "Underdevelopment (hypoplasia) of a phalanx of big toe." [HPO:probinson] synonym: "Hypoplastic phalanges of the hallux" EXACT layperson [] -synonym: "Short bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021334 is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010109 ! Short hallux @@ -72265,7 +72400,7 @@ creation_date: 2009-05-29T01:11:06Z id: HP:0010113 name: Absent hallux epiphysis def: "Failure to form (agenesis) of one or more epiphyses of the big toe." [HPO:probinson] -synonym: "Absent end part of big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent epiphyses of the hallux" EXACT [] xref: UMLS:C4020906 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux @@ -72276,7 +72411,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010114 name: Bracket epiphyses of the hallux -synonym: "Bracket shaped end part of big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024045 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010163 ! Bracket epiphyses of the toes @@ -72286,7 +72421,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010115 name: Cone-shaped epiphyses of the hallux -synonym: "Cone-shaped end part of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024044 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010164 ! Cone-shaped epiphyses of the toes @@ -72296,7 +72431,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010116 name: Enlarged epiphyses of the hallux -synonym: "Enlarged end part of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024043 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010165 ! Enlarged epiphyses of the toes @@ -72306,7 +72441,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010117 name: Fragmentation of the epiphyses of the hallux -synonym: "Fragmentation of the end part of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024042 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes @@ -72316,7 +72451,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010118 name: Irregular epiphyses of the hallux -synonym: "Irregular end part of big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024041 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010167 ! Irregular epiphyses of the toes @@ -72326,7 +72461,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010119 name: Ivory epiphyses of the hallux -synonym: "Increased bone density of end part of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024040 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010168 ! Ivory epiphyses of the toes @@ -72345,7 +72480,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010121 name: Small epiphyses of the hallux -synonym: "Small end part of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024038 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010170 ! Small epiphyses of the toes @@ -72355,7 +72490,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010122 name: Stippling of the epiphyses of the hallux -synonym: "Speckled calcifications in the end part of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024037 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges @@ -72365,7 +72500,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010123 name: Triangular epiphyses of the hallux -synonym: "Triangular end part of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024036 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010172 ! Triangular epiphyses of the toes @@ -72375,7 +72510,7 @@ creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010124 name: Abnormality of the epiphysis of the distal phalanx of the hallux -synonym: "Abnormality of the end part of the outermost bone of the big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024035 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens @@ -72385,7 +72520,7 @@ creation_date: 2009-05-29T01:17:54Z id: HP:0010125 name: Abnormality of the epiphysis of the 1st metatarsal def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone." [HPO:curators] -synonym: "Abnormality of the end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024034 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens @@ -72395,7 +72530,7 @@ creation_date: 2009-05-29T01:17:54Z id: HP:0010126 name: Abnormality of the epiphysis of the proximal phalanx of the hallux def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux." [HPO:curators] -synonym: "Abnormality of the end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024033 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens @@ -72405,7 +72540,7 @@ creation_date: 2009-05-29T01:17:54Z id: HP:0010127 name: Absent epiphysis of the proximal phalanx of the hallux def: "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux." [HPO:probinson] -synonym: "Absent end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024032 is_a: HP:0010113 ! Absent hallux epiphysis is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72416,7 +72551,7 @@ creation_date: 2009-05-29T01:22:23Z id: HP:0010128 name: Bracket epiphysis of the proximal phalanx of the hallux def: "The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [HPO:probinson] -synonym: "Bracket shaped end part of the innermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024031 is_a: HP:0010114 ! Bracket epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72426,7 +72561,7 @@ creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010129 name: Cone-shaped epiphysis of the proximal phalanx of the hallux -synonym: "Cone-shaped end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024030 is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72436,7 +72571,7 @@ creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010130 name: Enlarged epiphysis of the proximal phalanx of the hallux -synonym: "Enlarged end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024029 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72446,7 +72581,7 @@ creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010131 name: Fragmentation of the epiphysis of the proximal phalanx of the hallux -synonym: "Fragmentation of the end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024028 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72456,7 +72591,7 @@ creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010132 name: Irregular epiphysis of the proximal phalanx of the hallux -synonym: "Irregular end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024027 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72466,7 +72601,7 @@ creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010133 name: Ivory epiphysis of the proximal phalanx of the hallux -synonym: "Increased bone density of end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024026 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72485,7 +72620,7 @@ creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010135 name: Small epiphysis of the proximal phalanx of the hallux -synonym: "Small end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024024 is_a: HP:0010121 ! Small epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72495,7 +72630,7 @@ creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010136 name: Stippling of the epiphysis of the proximal phalanx of the hallux -synonym: "Speckled calcifications in the end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024023 is_a: HP:0010122 ! Stippling of the epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72505,7 +72640,7 @@ creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010137 name: Triangular epiphysis of the proximal phalanx of the hallux -synonym: "Triangular end part of the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024022 is_a: HP:0010123 ! Triangular epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux @@ -72516,7 +72651,7 @@ creation_date: 2009-05-29T01:22:23Z id: HP:0010138 name: Absent epiphysis of the distal phalanx of the hallux def: "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux." [HPO:probinson] -synonym: "Absent end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024021 is_a: HP:0010113 ! Absent hallux epiphysis is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72527,7 +72662,7 @@ creation_date: 2009-05-29T01:22:47Z id: HP:0010139 name: Bracket epiphysis of the distal phalanx of the hallux def: "The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [HPO:probinson] -synonym: "Bracket shaped end part of the outermost bone of big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024020 is_a: HP:0010114 ! Bracket epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72537,7 +72672,7 @@ creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010140 name: Cone-shaped epiphysis of the distal phalanx of the hallux -synonym: "Cone-shaped end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024019 is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72547,7 +72682,7 @@ creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010141 name: Enlarged epiphysis of the distal phalanx of the hallux -synonym: "Enlarged end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024018 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72557,7 +72692,7 @@ creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010142 name: Fragmentation of the epiphysis of the distal phalanx of the hallux -synonym: "Fragmentation of the end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024017 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72567,7 +72702,7 @@ creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010143 name: Irregular epiphysis of the distal phalanx of the hallux -synonym: "Irregular end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024016 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72577,7 +72712,7 @@ creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010144 name: Ivory epiphysis of the distal phalanx of the hallux -synonym: "Increased bone density of end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024015 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72596,7 +72731,7 @@ creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010146 name: Small epiphysis of the distal phalanx of the hallux -synonym: "Small end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024013 is_a: HP:0010121 ! Small epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72606,7 +72741,7 @@ creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010147 name: Stippling of the epiphysis of the distal phalanx of the hallux -synonym: "Speckled calcifications in the end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024012 is_a: HP:0010122 ! Stippling of the epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72616,7 +72751,7 @@ creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010148 name: Triangular epiphysis of the distal phalanx of the hallux -synonym: "Triangular end part of the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024011 is_a: HP:0010123 ! Triangular epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux @@ -72627,7 +72762,7 @@ creation_date: 2009-05-29T01:22:47Z id: HP:0010149 name: Absent epiphysis of the 1st metatarsal def: "Failure to form (agenesis) of the epiphysis of the 1st metatarsal." [HPO:probinson] -synonym: "Absent end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024010 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens @@ -72637,7 +72772,7 @@ creation_date: 2009-05-29T01:24:17Z id: HP:0010150 name: Bracket epiphysis of the 1st metatarsal def: "The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form." [HPO:probinson] -synonym: "Bracket shaped end part of 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024009 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens @@ -72647,7 +72782,7 @@ creation_date: 2009-05-29T01:24:17Z id: HP:0010151 name: Cone-shaped epiphysis of the 1st metatarsal def: "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot." [HPO:curators] -synonym: "Cone-shaped end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024008 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal @@ -72658,7 +72793,7 @@ creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010152 name: Enlarged epiphysis of the 1st metatarsal -synonym: "Enlarged end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024007 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal @@ -72668,7 +72803,7 @@ creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010153 name: Fragmentation of the epiphysis of the 1st metatarsal -synonym: "Fragmentation of the end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024006 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal @@ -72678,7 +72813,7 @@ creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010154 name: Irregular epiphysis of the 1st metatarsal -synonym: "Irregular end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024005 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal @@ -72689,7 +72824,7 @@ creation_date: 2009-05-29T01:24:17Z id: HP:0010155 name: Ivory epiphysis of the 1st metatarsal def: "The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] -synonym: "Increased bone density of end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024004 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal @@ -72707,7 +72842,7 @@ creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010157 name: Small epiphysis of the 1st metatarsal -synonym: "Small end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024002 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens @@ -72716,7 +72851,7 @@ creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010158 name: Stippling of the epiphysis of the 1st metatarsal -synonym: "Speckled calcifications in the end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024001 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens @@ -72725,7 +72860,7 @@ creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010159 name: Triangular epiphysis of the 1st metatarsal -synonym: "Triangular end part of the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024000 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens @@ -72734,7 +72869,7 @@ creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010160 name: Abnormality of the epiphyses of the toes -synonym: "Abnormality of the end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023999 is_a: HP:0001780 ! Abnormality of toe is_a: HP:0010631 ! Abnormality of the epiphyses of the feet @@ -72744,7 +72879,7 @@ creation_date: 2009-05-29T01:30:42Z [Term] id: HP:0010161 name: Abnormality of the phalanges of the toes -synonym: "Abnormality of the long bones of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the long bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023998 is_a: HP:0001780 ! Abnormality of toe created_by: doelkens @@ -72754,7 +72889,7 @@ creation_date: 2009-05-29T01:31:17Z id: HP:0010162 name: Absent epiphyses of the toes def: "Absence of the epiphyses of the phalanges of the toes." [HPO:sdoelken] -synonym: "Absent end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023997 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010577 ! Absent epiphyses @@ -72764,7 +72899,7 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010163 name: Bracket epiphyses of the toes -synonym: "Bracket shaped end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023996 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010578 ! Bracket epiphyses @@ -72774,7 +72909,7 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010164 name: Cone-shaped epiphyses of the toes -synonym: "Cone-shaped end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023995 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010579 ! Cone-shaped epiphysis @@ -72784,7 +72919,7 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010165 name: Enlarged epiphyses of the toes -synonym: "Enlarged end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023994 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010580 ! Enlarged epiphyses @@ -72794,7 +72929,7 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010166 name: Fragmentation of the epiphyses of the toes -synonym: "Fragmentation of the end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023993 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0100168 ! Fragmented epiphyses @@ -72804,7 +72939,7 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010167 name: Irregular epiphyses of the toes -synonym: "Irregular end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023992 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010582 ! Irregular epiphyses @@ -72814,7 +72949,7 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010168 name: Ivory epiphyses of the toes -synonym: "Increased bone density of end part of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023991 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010583 ! Ivory epiphyses @@ -72833,7 +72968,7 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010170 name: Small epiphyses of the toes -synonym: "Small end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023989 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010585 ! Small epiphyses @@ -72844,7 +72979,7 @@ creation_date: 2009-05-29T01:34:06Z id: HP:0010171 name: Epiphyseal stippling of toe phalanges def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [HPO:probinson] -synonym: "Speckled calcifications in long toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in long toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the toes" EXACT [] xref: UMLS:C4021332 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes @@ -72855,7 +72990,7 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010172 name: Triangular epiphyses of the toes -synonym: "Triangular end part of the toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023988 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010587 ! Triangular epiphyses @@ -72865,8 +73000,8 @@ creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010173 name: Aplasia/Hypoplasia of the phalanges of the toes -synonym: "Absent/small toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023987 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:0010161 ! Abnormality of the phalanges of the toes @@ -72877,7 +73012,7 @@ creation_date: 2009-05-29T01:39:26Z id: HP:0010174 name: Broad phalanx of the toes def: "Increased width of phalanx of toe of one or more toes." [HPO:probinson] -synonym: "Wide toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wide toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023986 is_a: HP:0006009 ! Broad phalanx is_a: HP:0010161 ! Abnormality of the phalanges of the toes @@ -72890,7 +73025,7 @@ id: HP:0010175 name: Bullet-shaped toe phalanx def: "An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the toes" EXACT layperson [] -synonym: "Bullet-shaped toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021331 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens @@ -72901,7 +73036,7 @@ id: HP:0010176 name: Curved toe phalanx def: "A deviation from the normal straight form of one or more toe phalanges." [HPO:probinson] synonym: "Curved phalanges of the toes" EXACT [] -synonym: "Curved toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Curved toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021330 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens @@ -72921,7 +73056,7 @@ id: HP:0010178 name: Patchy sclerosis of toe phalanx def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the toes" EXACT [] -synonym: "Uneven increase in bone density in toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021329 is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0100924 ! Sclerosis of toe phalanx @@ -72931,7 +73066,7 @@ creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010179 name: Symphalangism affecting the phalanges of the toes -synonym: "Fused toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023984 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens @@ -72940,7 +73075,7 @@ creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010180 name: Triangular shaped phalanges of the toes -synonym: "Triangular shaped toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023983 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens @@ -72950,7 +73085,7 @@ creation_date: 2009-05-29T01:39:26Z id: HP:0010181 name: Duplication of phalanx of toe def: "Partial/complete duplication of one or more phalanx of toe." [HPO:probinson] -synonym: "Duplicated toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplicated toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the phalanges of the toes" EXACT [] xref: UMLS:C4021328 is_a: HP:0010161 ! Abnormality of the phalanges of the toes @@ -72960,7 +73095,7 @@ creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010182 name: Abnormality of the distal phalanges of the toes -synonym: "Abnormality of the outermost bone of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023982 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens @@ -72969,7 +73104,7 @@ creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010183 name: Abnormality of the middle phalanges of the toes -synonym: "Abnormal middle bones of toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023981 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens @@ -72979,7 +73114,7 @@ creation_date: 2009-05-29T01:51:38Z id: HP:0010184 name: Abnormality of toe proximal phalanx def: "A morphological anomaly of one or more proximal phalanges of one or more toes." [HPO:probinson] -synonym: "Abnormal innermost toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021327 is_a: HP:0010161 ! Abnormality of the phalanges of the toes @@ -72993,8 +73128,8 @@ alt_id: HP:0005735 alt_id: HP:0005818 def: "Absence or underdevelopment of the distal phalanges of the toes." [HPO:probinson] synonym: "Absent/hypoplastic terminal phalanges of toes" EXACT [] -synonym: "Absent/small outermost bones of toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost bones of toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplasia/agenesis of distal phalanges of toes" RELATED [] xref: UMLS:C4020773 xref: UMLS:C4021326 @@ -73008,8 +73143,8 @@ creation_date: 2009-05-29T01:52:41Z id: HP:0010186 name: Broad distal phalanx of the toes def: "Increased width of the distal phalanx of toe of one or more toes." [HPO:probinson] -synonym: "Broad outermost bone of the toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of the toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023980 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes @@ -73021,7 +73156,7 @@ id: HP:0010187 name: Bullet-shaped distal toe phalanx def: "An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped distal phalanges of the toes" EXACT [] -synonym: "Bullet-shaped outermost bone of the toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021325 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes @@ -73033,7 +73168,7 @@ id: HP:0010188 name: Curved distal toe phalanx def: "A deviation from the normal straight form of one or more distal toe phalanges." [HPO:probinson] synonym: "Curved distal phalanges of the toes" EXACT [] -synonym: "Curved outermost bone of the toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021324 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes @@ -73054,7 +73189,7 @@ id: HP:0010190 name: Patchy sclerosis of distal toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the distal phalanges of the toes" EXACT [] -synonym: "Uneven increase in bone density in outermost toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in outermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021323 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx @@ -73064,7 +73199,7 @@ creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010191 name: Symphalangism affecting the distal phalanges of the toes -synonym: "Fused outermost bones of toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023978 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes @@ -73074,7 +73209,7 @@ creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010192 name: Triangular shaped distal phalanges of the toes -synonym: "Triangular shaped outermost bone of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023977 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes @@ -73085,7 +73220,7 @@ creation_date: 2009-05-29T01:52:41Z id: HP:0010193 name: Duplication of distal phalanx of toe def: "A partial or complete duplication of one or more distal phalanx of toe." [HPO:sdoelken] -synonym: "Duplication of outermost bone of toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of outermost bone of toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanges of the toes" EXACT [] xref: UMLS:C4021322 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes @@ -73095,8 +73230,8 @@ creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010194 name: Aplasia/Hypoplasia of the middle phalanges of the toes -synonym: "Absent/small middle bones of toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bones of toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023976 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes @@ -73106,7 +73241,7 @@ creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010195 name: Broad middle phalanges of the toes -synonym: "Broad middle bones of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023975 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes @@ -73117,7 +73252,7 @@ creation_date: 2009-05-29T01:53:35Z id: HP:0010196 name: Bullet-shaped middle toe phalanx def: "An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped middle bones of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped middle phalanges of the toes" EXACT [] xref: UMLS:C4021321 is_a: HP:0010175 ! Bullet-shaped toe phalanx @@ -73129,7 +73264,7 @@ creation_date: 2009-05-29T01:53:35Z id: HP:0010197 name: Curved middle toe phalanx def: "A deviation from the normal straight form of one or more middle toe phalanges." [HPO:probinson] -synonym: "Curved middle bones of the toes" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Curved middle bones of the toes" EXACT [ORCID:0000-0001-5208-3432] synonym: "Curved middle phalanges of the toes" EXACT [] xref: UMLS:C4021320 is_a: HP:0010176 ! Curved toe phalanx @@ -73151,7 +73286,7 @@ id: HP:0010199 name: Patchy sclerosis of middle toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the middle phalanges of the toes" EXACT [] -synonym: "Uneven increase in bone density in middle toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in middle toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021319 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx @@ -73161,7 +73296,7 @@ creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010200 name: Symphalangism affecting the middle phalanges of the toes -synonym: "Fused middle bones of toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023973 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes @@ -73171,7 +73306,7 @@ creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010201 name: Triangular shaped middle phalanges of the toes -synonym: "Triangular shaped middle bones of toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped middle bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023972 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes @@ -73182,7 +73317,7 @@ creation_date: 2009-05-29T01:53:35Z id: HP:0010202 name: Duplication of middle phalanx of toe def: "Partial or complete duplication of a middle phalanx of toe." [HPO:probinson] -synonym: "Partial/complete duplication of the middle bones of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial/complete duplication of the middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanges of the toes" EXACT [] xref: UMLS:C4021318 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes @@ -73193,8 +73328,8 @@ creation_date: 2009-05-29T01:53:35Z id: HP:0010203 name: Aplasia/hypoplasia of proximal toe phalanx def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes." [HPO:probinson] -synonym: "Absent/small innermost toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/Hypoplasia of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021317 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes @@ -73206,7 +73341,7 @@ creation_date: 2009-05-29T01:54:18Z id: HP:0010204 name: Broad proximal phalanx of toe def: "An increase in width of one ore more proximal toe phalanges." [HPO:probinson] -synonym: "Broad innermost toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023971 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx @@ -73217,7 +73352,7 @@ creation_date: 2009-05-29T01:54:18Z id: HP:0010205 name: Bullet-shaped proximal toe phalanx def: "An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped innermost toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped proximal phalanges of the toes" EXACT [] synonym: "Bullet-shaped proximal phalanges of toe" EXACT [] xref: UMLS:C4021316 @@ -73230,7 +73365,7 @@ creation_date: 2009-05-29T01:54:18Z id: HP:0010206 name: Curved proximal toe phalanx def: "A deviation from the normal straight shape of a proximal phalanx of one or more toes." [HPO:probinson] -synonym: "Curved innermost toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved proximal phalanges of the toes" EXACT [] xref: UMLS:C4021315 is_a: HP:0010176 ! Curved toe phalanx @@ -73254,7 +73389,7 @@ id: HP:0010208 name: Patchy sclerosis of proximal toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the proximal phalanges of the toes" EXACT [] -synonym: "Uneven increase in bone density in innermost toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021313 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx @@ -73264,7 +73399,7 @@ creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010209 name: Symphalangism affecting the proximal phalanges of the toes -synonym: "Fused innermost bones of toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023970 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx @@ -73274,7 +73409,7 @@ creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010210 name: Triangular shaped proximal phalanges of the toes -synonym: "Triangular shaped innermost toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023969 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx @@ -73285,7 +73420,7 @@ creation_date: 2009-05-29T01:54:18Z id: HP:0010211 name: Duplication of proximal phalanx of toe def: "Partial/complete duplication of a proximal phalanx of toe." [HPO:sdoelken] -synonym: "Duplication of innermost toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021312 is_a: HP:0010184 ! Abnormality of toe proximal phalanx @@ -73296,7 +73431,7 @@ creation_date: 2009-05-29T01:54:18Z id: HP:0010212 name: Flexion contracture of the hallux def: "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively." [HPO:probinson] -synonym: "Joint contracture of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Joint contracture of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Joint contracture of the hallux" EXACT [] xref: UMLS:C4021311 is_a: HP:0001844 ! Abnormality of the hallux @@ -73344,7 +73479,7 @@ creation_date: 2009-06-04T05:14:38Z id: HP:0010220 name: Abnormality of the epiphysis of the 2nd metacarpal def: "Any abnormality of the epiphysis of the second metacarpal bone." [HPO:curators] -synonym: "Abnormality of the end part of the 2nd long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023964 is_a: HP:0010010 ! Abnormality of the 2nd metacarpal created_by: doelkens @@ -73363,7 +73498,7 @@ creation_date: 2009-07-02T04:08:00Z id: HP:0010222 name: Abnormality of the epiphysis of the 3rd metacarpal def: "Any abnormality of the epiphysis of the third metacarpal bone." [HPO:curators] -synonym: "Abnormality of the end part of the 3rd long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023962 is_a: HP:0010011 ! Abnormality of the 3rd metacarpal created_by: doelkens @@ -73382,7 +73517,7 @@ creation_date: 2009-07-02T04:10:52Z id: HP:0010224 name: Abnormality of the epiphysis of the 4th metacarpal def: "Any abnormality of the epiphysis of the 4th metacarpal bone." [HPO:curators] -synonym: "Abnormality of the end part of the 4th long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023960 is_a: HP:0010012 ! Abnormality of the 4th metacarpal created_by: doelkens @@ -73401,9 +73536,9 @@ creation_date: 2009-07-02T04:12:04Z id: HP:0010226 name: Abnormality of the epiphysis of the 5th metacarpal def: "Any abnormality of the epiphysis of the fifth metacarpal bone." [HPO:curators] -synonym: "Abnormality of the end part of the long bone of little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the long bone of pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the long bone of pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the long bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the long bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the long bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023958 is_a: HP:0010013 ! Abnormality of the 5th metacarpal created_by: doelkens @@ -73423,7 +73558,7 @@ id: HP:0010228 name: Absent epiphyses of the phalanges of the hand alt_id: HP:0009359 def: "Absence of one or more epiphyses of the phalanges fingers." [HPO:curators] -synonym: "Absent end part of fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of fingers" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent epiphyses of the fingers" EXACT [] xref: UMLS:C4021310 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand @@ -73437,7 +73572,7 @@ name: Bracket epiphyses of the phalanges of the hand alt_id: HP:0009360 def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:probinson] synonym: "Bracket epiphyses of the fingers" EXACT [] -synonym: "Bracket shaped end part of finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021309 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010578 ! Bracket epiphyses @@ -73454,7 +73589,7 @@ alt_id: HP:0003766 alt_id: HP:0005803 alt_id: HP:0009361 def: "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] -synonym: "Cone-shaped end part of finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of hand" EXACT [] synonym: "Cone-shaped epiphyses of phalanges" EXACT [] synonym: "Cone-shaped epiphyses of the fingers" EXACT [] @@ -73475,7 +73610,7 @@ name: Enlarged epiphyses of the phalanges of the hand alt_id: HP:0006023 alt_id: HP:0009362 def: "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators] -synonym: "Enlarged end part of finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged epiphyses of the fingers" EXACT [] synonym: "Enlarged phalangeal epiphyses" EXACT [] xref: UMLS:C1865036 @@ -73489,7 +73624,7 @@ id: HP:0010232 name: Fragmentation of the epiphyses of the phalanges of the hand alt_id: HP:0009363 def: "Fragmented appearance of the epiphyses of the phalanges of the fingers." [HPO:curators] -synonym: "Fragmentation of end part of finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the epiphyses of the fingers" EXACT [] xref: UMLS:C4021308 is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs @@ -73502,7 +73637,7 @@ id: HP:0010233 name: Irregular epiphyses of the phalanges of the hand alt_id: HP:0009364 def: "Irregular radiographic opacity of the epiphyses of the phalanges of the fingers." [HPO:curators] -synonym: "Irregular end part of finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular epiphyses of the fingers" EXACT [] xref: UMLS:C4021307 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs @@ -73516,7 +73651,7 @@ name: Ivory epiphyses of the phalanges of the hand alt_id: HP:0001210 alt_id: HP:0009365 def: "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] -synonym: "Increased bone density of end part of the hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ivory epiphyses of the fingers" EXACT [] synonym: "Sclerotic ivory phalangeal epiphyses" EXACT [] xref: UMLS:C1857651 @@ -73543,7 +73678,7 @@ id: HP:0010236 name: Small epiphyses of the phalanges of the hand alt_id: HP:0009367 def: "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators] -synonym: "Small end part of finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small epiphyses of the fingers" EXACT [] xref: UMLS:C4021305 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand @@ -73556,7 +73691,7 @@ id: HP:0010237 name: Epiphyseal stippling of finger phalanges alt_id: HP:0009368 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [HPO:probinson] -synonym: "Speckled calcifications in end part of finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the fingers" EXACT [] synonym: "Stippling of the epiphyses of the phalanges of the hand" EXACT [] xref: UMLS:C4021304 @@ -73572,7 +73707,7 @@ name: Triangular epiphyses of the phalanges of the hand alt_id: HP:0009369 def: "A triangular appearance of the epiphyses of the phalanges of the fingers of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the fingers" EXACT [] -synonym: "Triangular end part of finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular epiphyses of the fingers" EXACT [] xref: UMLS:C4021303 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand @@ -73585,7 +73720,7 @@ id: HP:0010239 name: Aplasia of the middle phalanx of the hand alt_id: HP:0005778 def: "Absence of one or more middle phalanx of a finger." [HPO:probinson] -synonym: "Absent middle bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle phalanges" EXACT [] synonym: "Missing middle phalanges" EXACT [] xref: UMLS:C1862096 @@ -73602,7 +73737,7 @@ alt_id: HP:0005670 alt_id: HP:0006138 def: "Congenital hypoplasia of one or more proximal phalanx of finger." [HPO:probinson] synonym: "Hypoplasia of the proximal phalanges of the hand" EXACT [] -synonym: "Short innermost finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short innermost finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanges" EXACT [] synonym: "Short proximal phalanx of finger" EXACT layperson [] synonym: "Shortening in proximal phalanges" EXACT [] @@ -73617,7 +73752,7 @@ creation_date: 2009-07-06T04:00:44Z id: HP:0010242 name: Aplasia of the proximal phalanges of the hand alt_id: HP:0006102 -synonym: "Absent innermost bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent proximal phalanges" EXACT [] xref: UMLS:C4021302 is_a: HP:0009380 ! Aplasia of the fingers @@ -73630,7 +73765,7 @@ creation_date: 2009-07-06T04:01:02Z id: HP:0010243 name: Abnormality of the epiphyses of the distal phalanx of finger def: "Any anomal of distal epiphysis of phalanx of finger." [HPO:probinson] -synonym: "Abnormality of the end part of the outermost bone of finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023956 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger @@ -73640,7 +73775,7 @@ creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010244 name: Abnormality of the epiphyses of the middle phalanges of the hand -synonym: "Abnormality of the end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023955 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand @@ -73650,7 +73785,7 @@ creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010245 name: Abnormality of the epiphyses of the proximal phalanges of the hand -synonym: "Abnormality of the end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023954 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -73660,7 +73795,7 @@ creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010246 name: Absent epiphyses of the distal phalanges of the hand -synonym: "Absent end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023953 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73670,7 +73805,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010247 name: Bracket epiphyses of the distal phalanges of the hand -synonym: "Bracket shaped end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023952 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73680,7 +73815,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010248 name: Cone-shaped epiphyses of the distal phalanges of the hand -synonym: "Cone-shaped end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023951 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73690,7 +73825,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010249 name: Enlarged epiphyses of the distal phalanges of the hand -synonym: "Enlarged end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023950 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73700,7 +73835,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010250 name: Fragmentation of the epiphyses of the distal phalanges of the hand -synonym: "Fragmentation of the end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023949 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73710,7 +73845,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010251 name: Irregular epiphyses of the distal phalanges of the hand -synonym: "Irregular end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023948 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73723,7 +73858,7 @@ name: Ivory epiphyses of the distal phalanges of the hand alt_id: HP:0006105 def: "Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Eburnated epiphyses of distal phalanges" EXACT [] -synonym: "Increased bone density of end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021301 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73743,7 +73878,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010254 name: Small epiphyses of the distal phalanges of the hand -synonym: "Small end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023946 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73753,7 +73888,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010255 name: Stippling of the epiphyses of the distal phalanges of the hand -synonym: "Speckled calcifications in the end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023945 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73763,7 +73898,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010256 name: Triangular epiphyses of the distal phalanges of the hand -synonym: "Triangular end part of the outermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023944 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger @@ -73773,7 +73908,7 @@ creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010257 name: Absent epiphyses of the middle phalanges of the hand -synonym: "Absent end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023943 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73783,7 +73918,7 @@ creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010258 name: Bracket epiphyses of the middle phalanges of the hand -synonym: "Bracket shaped end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023942 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73795,7 +73930,7 @@ id: HP:0010259 name: Cone-shaped epiphyses of the middle phalanges of the hand alt_id: HP:0006033 alt_id: HP:0006058 -synonym: "Cone-shaped end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of middle phalanges" EXACT [] xref: UMLS:C1860828 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand @@ -73806,7 +73941,7 @@ creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010260 name: Enlarged epiphyses of the middle phalanges of the hand -synonym: "Enlarged end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023941 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73817,7 +73952,7 @@ creation_date: 2009-07-06T04:24:15Z id: HP:0010261 name: Fragmentation of the epiphyses of the middle phalanges of the hand def: "Fragmented appearance of the epiphyses of the middle phalanges of the hand." [HPO:curators] -synonym: "Fragmentation of the end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023940 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73827,7 +73962,7 @@ creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010262 name: Irregular epiphyses of the middle phalanges of the hand -synonym: "Irregular end part of middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023939 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73838,7 +73973,7 @@ creation_date: 2009-07-06T04:24:15Z id: HP:0010263 name: Ivory epiphyses of the middle phalanges of the hand def: "Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] -synonym: "Increased bone density of end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023938 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73858,7 +73993,7 @@ creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010265 name: Small epiphyses of the middle phalanges of the hand -synonym: "Small end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023936 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73868,7 +74003,7 @@ creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010266 name: Stippling of the epiphyses of the middle phalanges of the hand -synonym: "Speckled calcifications in the end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023935 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73878,7 +74013,7 @@ creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010267 name: Triangular epiphyses of the middle phalanges of the hand -synonym: "Triangular end part of the middle hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023934 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand @@ -73888,7 +74023,7 @@ creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010268 name: Absent epiphyses of the proximal phalanges of the hand -synonym: "Absent end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023933 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73898,7 +74033,7 @@ creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010269 name: Bracket epiphyses of the proximal phalanges of the hand -synonym: "Bracket shaped end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023932 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73908,7 +74043,7 @@ creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010270 name: Cone-shaped epiphyses of the proximal phalanges of the hand -synonym: "Cone-shaped end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023931 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73918,7 +74053,7 @@ creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010271 name: Enlarged epiphyses of the proximal phalanges of the hand -synonym: "Enlarged end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023930 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73928,7 +74063,7 @@ creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010272 name: Fragmentation of the epiphyses of the proximal phalanges of the hand -synonym: "Fragmentation of the end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023929 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73938,7 +74073,7 @@ creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010273 name: Irregular epiphyses of the proximal phalanges of the hand -synonym: "Irregular end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023928 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73949,7 +74084,7 @@ creation_date: 2009-07-06T04:25:12Z id: HP:0010274 name: Ivory epiphyses of the proximal phalanges of the hand def: "Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] -synonym: "Increased bone density of end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023927 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73969,7 +74104,7 @@ creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010276 name: Small epiphyses of the proximal phalanges of the hand -synonym: "Small end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023925 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73979,7 +74114,7 @@ creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010277 name: Stippling of the epiphyses of the proximal phalanges of the hand -synonym: "Speckled calcifications in the end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023924 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -73989,7 +74124,7 @@ creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010278 name: Triangular epiphyses of the proximal phalanges of the hand -synonym: "Triangular end part of the innermost hand bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023923 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand @@ -74001,8 +74136,8 @@ id: HP:0010280 name: Stomatitis def: "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:probinson] subset: hposlim_core -synonym: "Gingivostomatitis" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Inflammation of the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Gingivostomatitis" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Inflammation of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D013280 xref: SNOMEDCT_US:20607006 xref: SNOMEDCT_US:61170000 @@ -74020,7 +74155,7 @@ def: "A gap in the lower lip." [HPO:probinson] subset: hposlim_core synonym: "Cleft lower lip" EXACT layperson [] synonym: "Cleft of the lower lip" EXACT layperson [] -synonym: "Lower labial cleft" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Lower labial cleft" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1856026 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0410030 ! Cleft lip @@ -74032,12 +74167,12 @@ id: HP:0010282 name: Thin lower lip vermilion def: "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual. -synonym: "Decreased height of lower lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of lower lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased volume of lower lip vermilion" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of lower lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased volume of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin lower lip" EXACT layperson [] -synonym: "Thin red part of the lower lip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin vermilion border of lower lip" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Thin red part of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin vermilion border of lower lip" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C2053440 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0000233 ! Thin vermilion border @@ -74050,13 +74185,13 @@ name: Intra-oral hyperpigmentation def: "Increased pigmentation, either focal or generalized, of the mucosa of the mouth." [pmid:19125428] comment: Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation. subset: hposlim_core -synonym: "Dark color of gums" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Gingival hyperpigmentation" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Gingival melanin pigmentation" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hyperpigmentation of oral mucosa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Oral mucosa melanin pigmentation" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Oral racial pigmentation" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Pigmented gums" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dark color of gums" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Gingival hyperpigmentation" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Gingival melanin pigmentation" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hyperpigmentation of oral mucosa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Oral mucosa melanin pigmentation" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Oral racial pigmentation" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Pigmented gums" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235038002 xref: UMLS:C0399483 xref: UMLS:C0877541 @@ -74099,7 +74234,7 @@ creation_date: 2009-07-12T10:38:51Z id: HP:0010287 name: Abnormality of the submandibular glands def: "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles." [HPO:curators] -synonym: "Abnormality of the submaxillary glands" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the submaxillary glands" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023920 is_a: HP:0010286 ! Abnormal salivary gland morphology created_by: peter @@ -74117,14 +74252,14 @@ creation_date: 2009-07-12T10:42:35Z [Term] id: HP:0010289 name: Cleft of alveolar ridge of maxilla -def: "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth." [HPO:probinson] {comment="HPO:mengelstad"} +def: "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth." [HPO:mengelstad, HPO:probinson] subset: hposlim_core synonym: "Alveolar ridge cleft" EXACT [] -synonym: "Cleft of alveolar process" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Cleft of gum ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Notch of alveolar process" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Notch of alveolar ridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Notch of gum ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cleft of alveolar process" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Cleft of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Notch of alveolar process" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Notch of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Notch of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:445306000 xref: UMLS:C1398533 xref: UMLS:C2919907 @@ -74138,7 +74273,7 @@ id: HP:0010290 name: Short hard palate def: "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective)." [pmid:19125428] comment: Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence. -synonym: "Decreased length of hard palate" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of hard palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic palate" RELATED [] synonym: "Short palate" RELATED [] xref: UMLS:C1398301 @@ -74154,9 +74289,9 @@ name: Prominent palatine ridges def: "Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge." [pmid:19125428] comment: Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly. subset: hposlim_core -synonym: "Large lateral palatal folds" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Large lateral palatal ridges" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent lateral palatal folds" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Large lateral palatal folds" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large lateral palatal ridges" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent lateral palatal folds" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent lateral palatal ridges" EXACT [] synonym: "Prominent palatine folds" EXACT [] xref: UMLS:C4021300 @@ -74170,10 +74305,10 @@ name: Absent uvula def: "Lack of the uvula." [pmid:19125428] comment: Sometimes accompanies a Submucous cleft palate, but this should be coded separately. subset: hposlim_core -synonym: "Absent palatine uvula" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of uvula" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absent palatine uvula" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of uvula" RELATED [ORCID:0000-0001-5889-4463] synonym: "Congenital absence of uvula" EXACT [] -synonym: "Missing uvula" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Missing uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Uvula aplasia" EXACT [] xref: SNOMEDCT_US:25148007 xref: UMLS:C0266121 @@ -74185,7 +74320,7 @@ creation_date: 2009-07-12T11:36:21Z id: HP:0010293 name: Aplasia/Hypoplasia of the uvula def: "Underdevelopment or absence of the uvula." [HPO:curators] -synonym: "Aplasia/hypoplasia of palatine uvula" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Aplasia/hypoplasia of palatine uvula" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023917 is_a: HP:0000172 ! Abnormality of the uvula created_by: peter @@ -74195,9 +74330,9 @@ creation_date: 2009-07-12T11:36:52Z id: HP:0010294 name: Palate fistula def: "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate." [HPO:probinson] -synonym: "Hole in roof of mouth" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Palatal hole" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Palatal perforation" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Hole in roof of mouth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Palatal hole" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Palatal perforation" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C2032780 xref: UMLS:C4280385 is_a: HP:0000174 ! Abnormality of the palate @@ -74208,7 +74343,7 @@ creation_date: 2009-07-12T11:39:52Z id: HP:0010295 name: Aplasia/Hypoplasia of the tongue def: "Absence or underdevelopment of the tongue." [HPO:curators] -synonym: "Lingual aplasia/hypoplasia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Lingual aplasia/hypoplasia" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023916 xref: UMLS:C4280384 is_a: HP:0030809 ! Abnormal tongue morphology @@ -74236,10 +74371,10 @@ name: Bifid tongue def: "Tongue with a median apical indentation or fork." [pmid:19125428] comment: Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue. subset: hposlim_core -synonym: "Bifurcated tongue" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Cleft tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Forked tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Snake tongue" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bifurcated tongue" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Cleft tongue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Forked tongue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Snake tongue" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Split tongue" EXACT layperson [] xref: SNOMEDCT_US:84557007 xref: UMLS:C0266111 @@ -74254,12 +74389,12 @@ name: Smooth tongue def: "Glossy appearance of the entire tongue surface." [pmid:19125428] comment: This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue. subset: hposlim_core -synonym: "Atrophy of dorsum of tongue" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Atrophy of lingual surface" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Atrophy of tongue surface" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Smooth dorsum of tongue" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Smooth lingual surface" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Smooth surface of tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Atrophy of dorsum of tongue" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Atrophy of lingual surface" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Atrophy of tongue surface" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Smooth dorsum of tongue" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Smooth lingual surface" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Smooth surface of tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Smooth tongue" EXACT layperson [] xref: SNOMEDCT_US:9491003 xref: UMLS:C0155964 @@ -74278,7 +74413,7 @@ comment: Dentin is a calcified tissue of teeth that is covered by enamel on the subset: hposlim_core synonym: "Abnormal dentin" EXACT layperson [HPO:skoehler] synonym: "Abnormality of dentin" EXACT layperson [] -synonym: "Abnormality of dentine" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of dentine" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021299 is_a: HP:0011061 ! Abnormality of dental structure created_by: peter @@ -74371,7 +74506,7 @@ creation_date: 2009-07-12T02:13:42Z id: HP:0010307 name: Stridor def: "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators] -synonym: "Noisy breathing" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Noisy breathing" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012135 xref: SNOMEDCT_US:248573009 xref: SNOMEDCT_US:70407001 @@ -74417,8 +74552,8 @@ creation_date: 2009-07-12T02:30:05Z id: HP:0010311 name: Aplasia/Hypoplasia of the breasts def: "Absence or underdevelopment of the breasts." [HPO:curators] -synonym: "Absent/small breasts" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped breasts" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small breasts" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped breasts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023911 is_a: HP:0031093 ! Abnormal breast morphology created_by: peter @@ -74440,9 +74575,9 @@ id: HP:0010313 name: Breast hypertrophy def: "The presence of hypertrophy of the breast." [HPO:probinson] subset: hposlim_core -synonym: "Gigantomastia" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Gigantomastia" EXACT [ORCID:0000-0001-5208-3432] synonym: "Hypertrophy of the breasts" EXACT [] -synonym: "Macromastia" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Macromastia" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:C536821 xref: SNOMEDCT_US:372281005 xref: SNOMEDCT_US:372283008 @@ -74458,7 +74593,7 @@ creation_date: 2009-07-12T02:34:30Z id: HP:0010314 name: Premature thelarche def: "Premature development of the breasts." [HPO:probinson] -synonym: "Premature breast development" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Premature breast development" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:102889008 xref: UMLS:C0425772 is_a: HP:0000826 ! Precocious puberty @@ -74469,8 +74604,8 @@ creation_date: 2009-07-12T02:36:24Z id: HP:0010315 name: Aplasia/Hypoplasia of the diaphragm def: "Absence or underdevelopment of the diaphragm." [HPO:curators] -synonym: "Absent/small diaprhagm" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped diaprhagm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small diaprhagm" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped diaprhagm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023910 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter @@ -74499,7 +74634,7 @@ name: Scapular aplasia def: "Absence of the scapulae." [HPO:probinson] subset: hposlim_core synonym: "Absent scapula" EXACT [] -synonym: "Absent shoulder blade" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021298 is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae created_by: peter @@ -74509,8 +74644,8 @@ creation_date: 2009-07-14T11:40:24Z id: HP:0010318 name: Aplasia/Hypoplasia of the abdominal wall musculature def: "Absence or underdevelopment of the abdominal musculature." [HPO:curators] -synonym: "Absent/small abdominal wall muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped abdominal wall muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small abdominal wall muscles" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped abdominal wall muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023909 is_a: HP:0010991 ! Abnormality of the abdominal musculature created_by: peter @@ -74549,9 +74684,9 @@ creation_date: 2009-07-16T11:37:12Z id: HP:0010322 name: Abnormality of the 5th toe def: "An anomaly of the little toe." [HPO:probinson] -synonym: "Abnormality of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023905 is_a: HP:0001780 ! Abnormality of toe created_by: doelkens @@ -74560,7 +74695,7 @@ creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010323 name: Abnormality of the epiphyses of the 2nd toe -synonym: "Abnormality of the end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023904 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010319 ! Abnormality of the 2nd toe @@ -74571,7 +74706,7 @@ creation_date: 2009-07-16T11:40:18Z id: HP:0010324 name: Abnormality of phalanx of the 2nd toe def: "An anomaly of a phalanx of second toe." [HPO:sdoelken] -synonym: "Abnormality of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023903 is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010319 ! Abnormality of the 2nd toe @@ -74581,8 +74716,8 @@ creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010325 name: Aplasia/Hypoplasia of the 2nd toe -synonym: "Absent/small 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023902 is_a: HP:0010319 ! Abnormality of the 2nd toe is_a: HP:0010760 ! Absent toe @@ -74622,7 +74757,7 @@ creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010329 name: Abnormality of the epiphyses of the 3rd toe -synonym: "Abnormality of the end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023900 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010320 ! Abnormality of the 3rd toe @@ -74632,7 +74767,7 @@ creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010330 name: Abnormality of the phalanges of the 3rd toe -synonym: "Abnormality of the bones of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the bones of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023899 is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010320 ! Abnormality of the 3rd toe @@ -74644,8 +74779,8 @@ id: HP:0010331 name: Aplasia/Hypoplasia of the 3rd toe alt_id: HP:0008100 synonym: "Absent/hypoplastic third toe" EXACT [] -synonym: "Absent/small 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862698 is_a: HP:0010320 ! Abnormality of the 3rd toe is_a: HP:0010760 ! Absent toe @@ -74685,7 +74820,7 @@ creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010335 name: Abnormality of the epiphyses of the 4th toe -synonym: "Abnormality of the end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023897 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010321 ! Abnormality of the 4th toe @@ -74704,8 +74839,8 @@ creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010337 name: Aplasia/Hypoplasia of the 4th toe -synonym: "Absent/small 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023895 is_a: HP:0010321 ! Abnormality of the 4th toe is_a: HP:0010760 ! Absent toe @@ -74745,9 +74880,9 @@ creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010341 name: Abnormality of the epiphyses of the 5th toe -synonym: "Abnormality of the end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023893 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010322 ! Abnormality of the 5th toe @@ -74757,9 +74892,9 @@ creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010342 name: Abnormality of the phalanges of the 5th toe -synonym: "Abnormality of the little toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the pinkie toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the pinky toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023892 is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010322 ! Abnormality of the 5th toe @@ -74769,10 +74904,10 @@ creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010343 name: Aplasia/Hypoplasia of the 5th toe -synonym: "Absent/small little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small pinky toe" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small pinky toe" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023891 is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0010760 ! Absent toe @@ -74783,9 +74918,9 @@ creation_date: 2009-07-16T11:41:49Z id: HP:0010344 name: Deviation of the 5th toe synonym: "Displacement of the 5th toe" EXACT [] -synonym: "Displacement of the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Displacement of the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Displacement of the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Displacement of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Displacement of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Displacement of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021291 is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0100498 ! Deviation of toes @@ -74806,8 +74941,8 @@ creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010347 name: Aplasia/Hypoplasia of the phalanges of the 2nd toe -synonym: "Absent/small bones of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped bones of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023890 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe @@ -74817,7 +74952,7 @@ creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010348 name: Broad phalanges of the 2nd toe -synonym: "Broad bones of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023889 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe @@ -74828,7 +74963,7 @@ creation_date: 2009-07-16T11:45:34Z id: HP:0010349 name: Bullet-shaped 2nd toe phalanx def: "An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped bones of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 2nd toe" EXACT [] xref: UMLS:C4021289 is_a: HP:0010175 ! Bullet-shaped toe phalanx @@ -74840,7 +74975,7 @@ creation_date: 2009-07-16T11:45:34Z id: HP:0010350 name: Curved 2nd toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the second toe." [HPO:probinson] -synonym: "Curved bones of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the 2nd toe" EXACT layperson [] xref: UMLS:C4021288 is_a: HP:0010176 ! Curved toe phalanx @@ -74862,7 +74997,7 @@ id: HP:0010352 name: Patchy sclerosis of 2nd toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 2nd toe" EXACT [] -synonym: "Uneven increase in bone density in 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021287 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe @@ -74874,7 +75009,7 @@ creation_date: 2009-07-16T11:45:34Z id: HP:0010353 name: Symphalangism affecting the phalanges of the 2nd toe def: "Fusion of the interphalangeal joints of the 2nd toe." [HPO:probinson] -synonym: "Fused bones of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023887 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe @@ -74885,8 +75020,8 @@ creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010354 name: Triangular shaped phalanges of the 2nd toe -synonym: "Triangular shaped bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped bone of second toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped bone of second toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023886 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe @@ -74897,7 +75032,7 @@ creation_date: 2009-07-16T11:45:34Z id: HP:0010355 name: Duplication of the phalanges of the 2nd toe def: "Partial or complete duplication of a phalanx of second toe." [HPO:sdoelken] -synonym: "Duplication of the bones of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the phalanges of the 2nd toe" EXACT [] xref: UMLS:C4021286 is_a: HP:0010181 ! Duplication of phalanx of toe @@ -74908,7 +75043,7 @@ creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010356 name: Abnormality of the distal phalanx of the 2nd toe -synonym: "Abnormality of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023885 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe @@ -74918,7 +75053,7 @@ creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010357 name: Abnormality of the middle phalanx of the 2nd toe -synonym: "Abnormality of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023884 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe @@ -74928,7 +75063,7 @@ creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010358 name: Abnormality of the proximal phalanx of the 2nd toe -synonym: "Abnormality of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023883 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe @@ -74938,8 +75073,8 @@ creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010359 name: Aplasia/Hypoplasia of the phalanges of the 3rd toe -synonym: "Absent/small bones of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped bones of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023882 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe @@ -74949,7 +75084,7 @@ creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010360 name: Broad phalanges of the 3rd toe -synonym: "Wide bones of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023881 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe @@ -74960,7 +75095,7 @@ creation_date: 2009-07-16T11:51:17Z id: HP:0010361 name: Bullet-shaped 3rd toe phalanx def: "An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped bones of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 3rd toe" EXACT [] xref: UMLS:C4021285 is_a: HP:0010175 ! Bullet-shaped toe phalanx @@ -74972,7 +75107,7 @@ creation_date: 2009-07-16T11:51:17Z id: HP:0010362 name: Curved 3rd toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the third toe." [HPO:probinson] -synonym: "Curved bones of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the 3rd toe" EXACT layperson [] xref: UMLS:C4021284 is_a: HP:0010176 ! Curved toe phalanx @@ -74994,7 +75129,7 @@ id: HP:0010364 name: Patchy sclerosis of 3rd toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 3rd toe" EXACT [] -synonym: "Uneven increase in bone density in 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021283 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe @@ -75005,7 +75140,7 @@ creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010365 name: Symphalangism affecting the phalanges of the 3rd toe -synonym: "Fused bones of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023880 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe @@ -75016,7 +75151,7 @@ creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010366 name: Triangular shaped phalanges of the 3rd toe -synonym: "Triangular shaped 3rd toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped 3rd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023879 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe @@ -75027,7 +75162,7 @@ creation_date: 2009-07-16T11:51:17Z id: HP:0010367 name: Duplication of phalanx of the 3rd toe def: "Partial or complete duplication of phalanx of third toe." [HPO:sdoelken] -synonym: "Duplication of 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 3rd toe" EXACT [] xref: UMLS:C4021282 @@ -75039,7 +75174,7 @@ creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010368 name: Abnormality of the distal phalanx of the 3rd toe -synonym: "Abnormality of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023878 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe @@ -75049,7 +75184,7 @@ creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010369 name: Abnormality of the middle phalanx of the 3rd toe -synonym: "Abnormality of the middle bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023877 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe @@ -75060,7 +75195,7 @@ creation_date: 2009-07-16T11:51:17Z id: HP:0010370 name: Abnormality of the proximal phalanx of the 3rd toe def: "An anomaly of the proximal phalanx of third toe." [HPO:probinson] -synonym: "Abnormality of the innermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023876 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe @@ -75070,8 +75205,8 @@ creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010371 name: Aplasia/Hypoplasia of the phalanges of the 4th toe -synonym: "Absent/small bones of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped bones of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023875 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe @@ -75081,7 +75216,7 @@ creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010372 name: Broad phalanges of the 4th toe -synonym: "Broad bones of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023874 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe @@ -75092,7 +75227,7 @@ creation_date: 2009-07-16T11:51:46Z id: HP:0010373 name: Bullet-shaped 4th toe phalanx def: "An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped bones of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 4th toe" EXACT [] xref: UMLS:C4021281 is_a: HP:0010175 ! Bullet-shaped toe phalanx @@ -75104,7 +75239,7 @@ creation_date: 2009-07-16T11:51:46Z id: HP:0010374 name: Curved 4th toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the fourth toe." [HPO:probinson] -synonym: "Curved bones of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the 4th toe" EXACT [] xref: UMLS:C4021280 is_a: HP:0010176 ! Curved toe phalanx @@ -75126,7 +75261,7 @@ id: HP:0010376 name: Patchy sclerosis of 4th toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 4th toe" EXACT layperson [] -synonym: "Uneven increase in bone density in 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021279 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe @@ -75137,7 +75272,7 @@ creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010377 name: Symphalangism affecting the phalanges of the 4th toe -synonym: "Fused bones of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023872 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe @@ -75148,7 +75283,7 @@ creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010378 name: Triangular shaped phalanges of the 4th toe -synonym: "Triangular shaped bones of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023871 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe @@ -75159,7 +75294,7 @@ creation_date: 2009-07-16T11:51:46Z id: HP:0010379 name: Duplication of phalanx of the 4th toe def: "Partial or complete duplication of phalanx of fourth toe." [HPO:probinson] -synonym: "Duplication of 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 4th toe" EXACT [] xref: UMLS:C4021278 @@ -75171,7 +75306,7 @@ creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010380 name: Abnormality of the distal phalanx of the 4th toe -synonym: "Abnormality of the outermost 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023870 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe @@ -75181,7 +75316,7 @@ creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010381 name: Abnormality of the middle phalanx of the 4th toe -synonym: "Abnormality of middle 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of middle 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023869 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens @@ -75190,7 +75325,7 @@ creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010382 name: Abnormality of the proximal phalanx of the 4th toe -synonym: "Abnormal innermost 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023868 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe @@ -75200,10 +75335,10 @@ creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010383 name: Aplasia/Hypoplasia of the phalanges of the 5th toe -synonym: "Absent/small little toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small pinkie toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small pinky toe bones" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pinky toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small pinky toe bones" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023867 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe @@ -75213,9 +75348,9 @@ creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010384 name: Broad phalanges of the 5th toe -synonym: "Broad bones of the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Broad bones of the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Broad bones of the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023866 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe @@ -75226,9 +75361,9 @@ creation_date: 2009-07-16T11:52:18Z id: HP:0010385 name: Bullet-shaped 5th toe phalanx def: "An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped bones of the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped bones of the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped bones of the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 5th toe" EXACT [] xref: UMLS:C4021277 is_a: HP:0010175 ! Bullet-shaped toe phalanx @@ -75240,10 +75375,10 @@ creation_date: 2009-07-16T11:52:18Z id: HP:0010386 name: Curved 5th toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the fifth toe." [HPO:probinson] -synonym: "Curved little toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the 5th toe" EXACT [] -synonym: "Curved pinkie toe bones" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Curved pinky toe bones" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Curved pinkie toe bones" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Curved pinky toe bones" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021276 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe @@ -75264,9 +75399,9 @@ id: HP:0010388 name: Patchy sclerosis of 5th toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 5th toe" EXACT [] -synonym: "Uneven increase in bone density in little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021275 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe @@ -75277,9 +75412,9 @@ creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010389 name: Symphalangism affecting the phalanges of the 5th toe -synonym: "Fused bones in the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused bones in the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused bones in the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused bones in the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused bones in the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused bones in the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023864 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe @@ -75290,9 +75425,9 @@ creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010390 name: Triangular shaped phalanges of the 5th toe -synonym: "Triangular shaped little toe bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Triangular shaped pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Triangular shaped pinky toe bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Triangular shaped little toe bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Triangular shaped pinkie toe bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Triangular shaped pinky toe bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023863 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe @@ -75303,9 +75438,9 @@ creation_date: 2009-07-16T11:52:18Z id: HP:0010391 name: Duplication of the phalanges of the 5th toe def: "Partial or complete duplication of one or more phalanx of little toe." [HPO:probinson] -synonym: "Duplication of the bones of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the bones of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the bones of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the phalanges of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 5th toe" EXACT [] xref: UMLS:C4020903 @@ -75317,9 +75452,9 @@ creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010392 name: Abnormality of the distal phalanx of the 5th toe -synonym: "Abnormality of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023862 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens @@ -75328,9 +75463,9 @@ creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010393 name: Abnormality of the middle phalanx of the 5th toe -synonym: "Abnormality of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023861 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe @@ -75340,9 +75475,9 @@ creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010394 name: Abnormality of the proximal phalanx of the 5th toe -synonym: "Abnormality of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023860 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe @@ -75353,8 +75488,8 @@ creation_date: 2009-07-16T11:52:18Z id: HP:0010395 name: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe." [HPO:probinson] -synonym: "Absent/small innermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023859 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe @@ -75366,7 +75501,7 @@ creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010396 name: Broad proximal phalanx of the 2nd toe -synonym: "Broad innermost bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023858 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010348 ! Broad phalanges of the 2nd toe @@ -75378,7 +75513,7 @@ creation_date: 2009-07-16T11:58:15Z id: HP:0010397 name: Bullet-shaped proximal phalanx of the 2nd toe def: "An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped innermost bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023857 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx @@ -75390,7 +75525,7 @@ creation_date: 2009-07-16T11:58:15Z id: HP:0010398 name: Curved proximal phalanx of the 2nd toe def: "A deviation from the normal straight form of the proximal phalanx of the 2nd toe." [HPO:probinson] -synonym: "Curved innermost bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023856 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx @@ -75410,7 +75545,7 @@ creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010400 name: Patchy sclerosis of the proximal phalanx of the 2nd toe -synonym: "Uneven increase in bone density in the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023854 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx @@ -75422,7 +75557,7 @@ creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010401 name: Symphalangism affecting the proximal phalanx of the 2nd toe -synonym: "Fused innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023853 is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe @@ -75432,7 +75567,7 @@ creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010402 name: Triangular shaped proximal phalanx of the 2nd toe -synonym: "Triangular shaped innermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023852 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe @@ -75443,7 +75578,7 @@ creation_date: 2009-07-16T11:58:15Z id: HP:0010403 name: Duplication of the proximal phalanx of the 2nd toe def: "Partial or complete duplication of proximal phalanx of second toe." [HPO:sdoelken] -synonym: "Duplication of innermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the second toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021274 @@ -75455,8 +75590,8 @@ creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010404 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe -synonym: "Absent/small middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023851 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe @@ -75468,7 +75603,7 @@ creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010405 name: Broad middle phalanx of the 2nd toe -synonym: "Broad middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023850 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010348 ! Broad phalanges of the 2nd toe @@ -75480,7 +75615,7 @@ creation_date: 2009-07-16T12:43:52Z id: HP:0010406 name: Bullet-shaped middle phalanx of the 2nd toe def: "An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023849 is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe @@ -75491,7 +75626,7 @@ creation_date: 2009-07-16T12:43:52Z id: HP:0010407 name: Curved middle phalanx of the 2nd toe def: "A deviation from the normal straight form of the middle phalanx of the 2nd toe." [HPO:probinson] -synonym: "Curved middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023848 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx @@ -75511,7 +75646,7 @@ creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010409 name: Patchy sclerosis of the middle phalanx of the 2nd toe -synonym: "Uneven increase in bone density in the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023846 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx @@ -75523,7 +75658,7 @@ creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010410 name: Symphalangism affecting the middle phalanx of the 2nd toe -synonym: "Fused middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023845 is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe @@ -75533,7 +75668,7 @@ creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010411 name: Triangular shaped middle phalanx of the 2nd toe -synonym: "Triangular shaped middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023844 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe @@ -75544,7 +75679,7 @@ creation_date: 2009-07-16T12:43:52Z id: HP:0010412 name: Duplication of the middle phalanx of the 2nd toe def: "Partial or complete duplication of middle phalanx of second toe." [HPO:sdoelken] -synonym: "Duplication of middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021273 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe @@ -75555,8 +75690,8 @@ creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010413 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe -synonym: "Absent/small outermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023843 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe @@ -75568,8 +75703,8 @@ creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010414 name: Broad distal phalanx of the 2nd toe -synonym: "Broad outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023842 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010348 ! Broad phalanges of the 2nd toe @@ -75581,7 +75716,7 @@ creation_date: 2009-07-16T12:44:41Z id: HP:0010415 name: Bullet-shaped distal phalanx of the 2nd toe def: "An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023841 is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe @@ -75592,7 +75727,7 @@ creation_date: 2009-07-16T12:44:41Z id: HP:0010416 name: Curved distal phalanx of the 2nd toe def: "A deviation from the normal straight form of the distal phalanx of the 2nd toe." [HPO:probinson] -synonym: "Curved outermost bone of the 2nd toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of the 2nd toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023840 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx @@ -75612,7 +75747,7 @@ creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010418 name: Patchy sclerosis of the distal phalanx of the 2nd toe -synonym: "Uneven increase in bone density in the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023838 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx @@ -75623,7 +75758,7 @@ creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010419 name: Symphalangism affecting the distal phalanx of the 2nd toe -synonym: "Fused outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023837 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe @@ -75634,7 +75769,7 @@ creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010420 name: Triangular shaped distal phalanx of the 2nd toe -synonym: "Triangular shaped outermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023836 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe @@ -75645,7 +75780,7 @@ creation_date: 2009-07-16T12:44:41Z id: HP:0010421 name: Duplication of the distal phalanx of the 2nd toe def: "Partial or complete duplication of the distal phalanx of second toe." [HPO:sdoelken] -synonym: "Duplication of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021272 is_a: HP:0010193 ! Duplication of distal phalanx of toe @@ -75658,7 +75793,7 @@ creation_date: 2009-07-16T12:44:41Z id: HP:0010422 name: Complete duplication of the proximal phalanx of the 2nd toe def: "Complete duplication of proximal phalanx of second toe." [HPO:sdoelken] -synonym: "Complete duplication of the innermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021271 is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe @@ -75670,7 +75805,7 @@ creation_date: 2009-07-16T12:56:56Z id: HP:0010423 name: Partial duplication of the proximal phalanx of the 2nd toe def: "Partial duplication of proximal phalanx of second toe." [HPO:probinson] -synonym: "Partial duplication of the innermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021270 is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe @@ -75682,7 +75817,7 @@ creation_date: 2009-07-16T12:56:56Z id: HP:0010424 name: Complete duplication of the distal phalanx of the 2nd toe def: "Complete duplication of the distal phalanx of second toe." [HPO:probinson] -synonym: "Complete duplication of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023835 is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe @@ -75693,7 +75828,7 @@ creation_date: 2009-07-16T12:57:27Z id: HP:0010425 name: Partial duplication of the distal phalanx of the 2nd toe def: "Partial duplication of the distal phalanx of second toe." [HPO:probinson] -synonym: "Partial duplication of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023834 is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe @@ -75704,7 +75839,7 @@ creation_date: 2009-07-16T12:57:27Z id: HP:0010426 name: Complete duplication of the middle phalanx of the 2nd toe def: "Complete duplication of middle phalanx of second toe." [HPO:sdoelken] -synonym: "Complete duplication of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023833 is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe @@ -75715,7 +75850,7 @@ creation_date: 2009-07-16T12:58:18Z id: HP:0010427 name: Partial duplication of the middle phalanx of the 2nd toe def: "Partial duplication of middle phalanx of second toe." [HPO:sdoelken] -synonym: "Partial duplication of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023832 is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe @@ -75726,7 +75861,7 @@ creation_date: 2009-07-16T12:58:18Z id: HP:0010428 name: Partial duplication of phalanx of the 2nd toe def: "Partial duplication of a phalanx of second toe." [HPO:sdoelken] -synonym: "Partial duplication of 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023831 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe created_by: doelkens @@ -75736,7 +75871,7 @@ creation_date: 2009-07-16T04:07:33Z id: HP:0010429 name: Complete duplication of the phalanges of the 2nd toe def: "Complete duplication of a phalanx of second toe." [HPO:sdoelken] -synonym: "Complete duplication of the 2nd toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the 2nd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023830 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe created_by: doelkens @@ -75746,7 +75881,7 @@ creation_date: 2009-07-16T04:07:33Z id: HP:0010430 name: Aplasia of the phalanges of the 2nd toe alt_id: HP:0100361 -synonym: "Absent 2nd toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent 2nd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023829 is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe @@ -75760,7 +75895,7 @@ name: Short phalanx of the 2nd toe alt_id: HP:0100365 def: "Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 2nd toe" EXACT [] -synonym: "Short 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short phalanx of the second toe" EXACT [] xref: UMLS:C4021269 is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe @@ -75774,7 +75909,7 @@ id: HP:0010432 name: Absent distal phalanx of the 2nd toe def: "Absence of distal phalanx of the second toe as a result of developmental aplasia." [HPO:probinson] synonym: "Absent distal phalanx of the second toe" EXACT [] -synonym: "Absent outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the distal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021268 is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe @@ -75789,7 +75924,7 @@ name: Short distal phalanx of the 2nd toe def: "Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small distal phalanx of the 2nd toe" EXACT [] synonym: "Short distal phalanx of the second toe" EXACT [] -synonym: "Short outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021267 is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe @@ -75799,7 +75934,7 @@ creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010434 name: Aplasia of the middle phalanx of the 2nd toe -synonym: "Absent middle bone of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023828 is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe @@ -75812,7 +75947,7 @@ id: HP:0010435 name: Short middle phalanx of the 2nd toe def: "Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small middle phalanx of the 2nd toe" EXACT [] -synonym: "Short middle 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short middle 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of the second toe" EXACT [] xref: UMLS:C4021266 is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe @@ -75823,7 +75958,7 @@ creation_date: 2009-07-16T04:28:48Z [Term] id: HP:0010436 name: Aplasia of the proximal phalanx of the 2nd toe -synonym: "Absent innermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023827 is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe @@ -75835,7 +75970,7 @@ id: HP:0010437 name: Short proximal phalanx of the 2nd toe def: "Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 2nd toe" EXACT [] -synonym: "Short innermost 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021265 is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe @@ -75848,9 +75983,10 @@ id: HP:0010438 name: Abnormal ventricular septum morphology alt_id: HP:0001628 def: "A structural abnormality of the interventricular septum." [HPO:probinson] -synonym: "Abnormal interventricular septum morphology" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal interventricular septum morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the ventricular septum" EXACT [] synonym: "Ventricular septum abnormality" EXACT [] +xref: Fyler:1815 xref: UMLS:C4021264 is_a: HP:0001671 ! Abnormal cardiac septum morphology is_a: HP:0001713 ! Abnormal cardiac ventricle morphology @@ -75883,6 +76019,7 @@ alt_id: HP:0006046 alt_id: HP:0006123 alt_id: HP:0009605 def: "A congenital anomaly characterized by the presence of supernumerary fingers or toes." [HPO:probinson] +xref: Fyler:4103 xref: MSH:D017689 xref: SNOMEDCT_US:367506006 xref: UMLS:C0152427 @@ -75895,8 +76032,8 @@ id: HP:0010443 name: Bifid femur def: "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side." [HPO:probinson] subset: hposlim_core -synonym: "Notched thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Split thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Notched thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Split thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023824 is_a: HP:0002823 ! Abnormality of femur morphology created_by: doelkens @@ -75923,6 +76060,7 @@ synonym: "Atrial septal defect, primum type" EXACT [HPO:skoehler] synonym: "Ostium primum atrial septal defect" EXACT [] synonym: "Primum atrioventricular canal defect" EXACT [] synonym: "Septum primum defect" EXACT [] +xref: Fyler:1110 xref: MSH:C536112 xref: MSH:C548006 xref: SNOMEDCT_US:253373002 @@ -75980,7 +76118,7 @@ creation_date: 2009-09-14T10:23:09Z id: HP:0010450 name: Esophageal stenosis def: "An abnormal narrowing of the lumen of the esophagus." [HPO:probinson] -synonym: "Narrowing of the esophagus" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of the esophagus" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004940 xref: SNOMEDCT_US:63305008 xref: UMLS:C0014866 @@ -75992,8 +76130,8 @@ creation_date: 2009-09-14T10:42:33Z id: HP:0010451 name: Aplasia/Hypoplasia of the spleen def: "Absence or underdevelopment of the spleen." [HPO:curators] -synonym: "Absent/small spleen" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped spleen" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small spleen" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023823 is_a: HP:0025408 ! Abnormal spleen morphology created_by: peter @@ -76003,7 +76141,7 @@ creation_date: 2009-09-14T10:48:29Z id: HP:0010452 name: Ectopia of the spleen def: "An abnormal (non-anatomic) location of the spleen." [HPO:curators] -synonym: "Abnormal spleen location" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal spleen location" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ectopic spleen" EXACT [] xref: SNOMEDCT_US:65146007 xref: UMLS:C0266632 @@ -76109,8 +76247,8 @@ creation_date: 2009-09-15T08:33:20Z id: HP:0010462 name: Aplasia/Hypoplasia of the ovary def: "Aplasia or developmental hypoplasia of the ovary." [HPO:probinson] -synonym: "Absent/small ovary" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped ovary" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small ovary" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped ovary" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023818 is_a: HP:0031065 ! Abnormal ovarian morphology created_by: peter @@ -76152,8 +76290,8 @@ creation_date: 2009-09-15T08:48:42Z id: HP:0010468 name: Aplasia/Hypoplasia of the testes def: "Absence or underdevelopment of the testes." [HPO:curators] -synonym: "Absent/small testes" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped testes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small testes" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped testes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023817 is_a: HP:0045058 ! Abnormality of the testis size created_by: peter @@ -76165,7 +76303,7 @@ name: Absent testis def: "Testis not palpable in the scrotum or inguinal canal." [HPO:probinson, PMID:23650202] comment: Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. synonym: "Absence of palpable testicules" EXACT [HPO:skoehler] -synonym: "Absent testes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent testes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the testes" EXACT [] xref: UMLS:C4023816 is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes @@ -76176,7 +76314,7 @@ creation_date: 2009-09-15T09:29:16Z id: HP:0010470 name: Supernumerary testes def: "The presence of more than two testes." [HPO:probinson] -synonym: "Extra testes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra testes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Polyorchidism" EXACT [] xref: SNOMEDCT_US:17471001 xref: UMLS:C0266430 @@ -76239,8 +76377,8 @@ creation_date: 2009-09-15T10:08:32Z id: HP:0010476 name: Aplasia/Hypoplasia of the bladder def: "Absence or underdevelopment of the urinary bladder." [HPO:probinson] -synonym: "Absent/small bladder" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped bladder" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small bladder" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped bladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023813 is_a: HP:0025487 ! Abnormality of bladder morphology created_by: peter @@ -76250,7 +76388,7 @@ creation_date: 2009-09-15T10:09:48Z id: HP:0010477 name: Aplasia of the bladder def: "Aplasia (absence) of the urinary bladder." [HPO:probinson] -synonym: "Absent bladder" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent bladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023812 is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder created_by: peter @@ -76321,7 +76459,7 @@ creation_date: 2009-09-16T09:15:05Z id: HP:0010484 name: Hypertrophy of the upper limb def: "Abnormal increase in size of the upper limbs (due to an increase of the size of cells)." [HPO:curators] -synonym: "Increased size of upper limb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased size of upper limb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:298745009 xref: UMLS:C0575518 is_a: HP:0002817 ! Abnormality of the upper limb @@ -76363,8 +76501,8 @@ creation_date: 2009-09-16T10:40:18Z id: HP:0010488 name: Aplasia/Hypoplasia of the palmar creases def: "Absence or underdevelopment of the palmar creases." [HPO:curators] -synonym: "Absent/small palm crease" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped palm crease" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small palm crease" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped palm crease" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023806 is_a: HP:0010490 ! Abnormality of the palmar creases created_by: peter @@ -76376,7 +76514,7 @@ name: Absent palmar crease def: "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease)." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Absence of the palmar creases" EXACT [] -synonym: "Absent palm lines" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent palm lines" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the palmar creases" EXACT [] xref: UMLS:C4021262 is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases @@ -76388,7 +76526,7 @@ id: HP:0010490 name: Abnormality of the palmar creases def: "An abnormality of the creases of the skin of palm of hand." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of the palm lines" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the palm lines" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205557000 xref: UMLS:C0221199 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics @@ -76424,7 +76562,7 @@ id: HP:0010493 name: Long metacarpals def: "An abnormally increased length of the metacarpal bones." [HPO:probinson] subset: hposlim_core -synonym: "Elongated long bone of hand" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Elongated long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased length of metacarpals" EXACT [] xref: UMLS:C4021260 is_a: HP:0005916 ! Abnormal metacarpal morphology @@ -76491,7 +76629,7 @@ creation_date: 2009-09-17T11:39:39Z id: HP:0010499 name: Patellar subluxation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella." [HPO:curators] -synonym: "Partial knee cap dislocation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial knee cap dislocation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Subluxation of patella" EXACT [] xref: UMLS:C0857276 is_a: HP:0003045 ! Abnormality of the patella @@ -76526,7 +76664,7 @@ id: HP:0010502 name: Fibular bowing def: "A bending or abnormal curvature of the fibula." [HPO:probinson] comment: A developmental defect with posteromedial fibular angulation. -synonym: "Bowed calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bowed calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023801 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002991 ! Abnormality of fibula morphology @@ -76538,7 +76676,7 @@ id: HP:0010503 name: Fibular duplication def: "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition." [HPO:probinson] subset: hposlim_core -synonym: "Duplicated calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Duplicated calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3276742 is_a: HP:0002991 ! Abnormality of fibula morphology created_by: peter @@ -76548,8 +76686,8 @@ creation_date: 2009-09-19T09:45:58Z id: HP:0010504 name: Increased length of the tibia def: "An abnormal increase in the length of the tibia." [HPO:curators] -synonym: "Increased length of shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased length of shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased length of shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased length of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021864 is_a: HP:0002992 ! Abnormality of tibia morphology created_by: peter @@ -76570,7 +76708,7 @@ id: HP:0010506 name: Abnormal plantar dermatoglyphics def: "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot." [HPO:probinson] synonym: "Abnormal dermatoglyphics on feet" EXACT [] -synonym: "Abnormal prints on feet" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal prints on feet" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021258 is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0100872 ! Abnormality of the plantar skin of foot @@ -76600,7 +76738,7 @@ creation_date: 2009-09-19T09:59:48Z id: HP:0010509 name: Aplasia of the tarsal bones def: "Absence of the tarsal bones." [HPO:curators] -synonym: "Absent ankle bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent ankle bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent tarsals" EXACT [] xref: UMLS:C4021257 is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones @@ -76667,8 +76805,8 @@ creation_date: 2009-09-19T04:14:54Z id: HP:0010515 name: Aplasia/Hypoplasia of the thymus def: "Absence or underdevelopment of the thymus." [HPO:probinson] -synonym: "Absent/small thymus" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped thymus" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small thymus" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped thymus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Thymic hypoplasia or aplasia" RELATED [HPO:skoehler] xref: UMLS:C3278004 xref: UMLS:C4023796 @@ -76691,7 +76829,7 @@ creation_date: 2009-09-19T04:23:10Z id: HP:0010517 name: Ectopic thymus tissue def: "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." [HPO:curators] -synonym: "Abnormal thymus position" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal thymus position" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023795 is_a: HP:0000777 ! Abnormality of the thymus created_by: peter @@ -76826,9 +76964,9 @@ creation_date: 2009-09-20T11:45:49Z id: HP:0010529 name: Echolalia def: "The tendency to repeat vocalizations made by another person." [HPO:curators] -synonym: "Echologia" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Echophrasia" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Repeated speech" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Echologia" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Echophrasia" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Repeated speech" BROAD layperson [ORCID:0000-0001-6908-9849] xref: MSH:D004454 xref: SNOMEDCT_US:64712007 xref: UMLS:C0013528 @@ -76921,10 +77059,10 @@ id: HP:0010537 name: Wide cranial sutures def: "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)." [HPO:probinson] subset: hposlim_core -synonym: "Broad cranial sutures" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Large cranial suture" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Broad cranial sutures" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large cranial suture" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "open cranial sutures" EXACT [] -synonym: "Persistent open cranial sutures" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Persistent open cranial sutures" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Widened cranial sutures" EXACT [] xref: SNOMEDCT_US:268855009 xref: UMLS:C0410935 @@ -76937,11 +77075,11 @@ id: HP:0010538 name: Small sella turcica def: "An abnormally small sella turcica." [HPO:curators] subset: hposlim_core -synonym: "Hypoplasia of hypophseal fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of pituitary fossa" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of sella turcica" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Small hypophyseal fossa" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small pituitary fossa" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hypoplasia of hypophseal fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of sella turcica" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small hypophyseal fossa" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Small pituitary fossa" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023794 xref: UMLS:C4072875 xref: UMLS:C4072876 @@ -76954,8 +77092,8 @@ id: HP:0010539 name: Thin calvarium def: "The presence of an abnormally thin calvarium." [HPO:probinson] subset: hposlim_core -synonym: "Thin cranial bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin skull bone" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin cranial bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin skull bone" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856231 xref: UMLS:C4280379 is_a: HP:0002683 ! Abnormality of the calvaria @@ -76976,11 +77114,11 @@ id: HP:0010541 name: Cutis gyrata of scalp def: "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." [HPO:probinson] synonym: "Cutis verticis gyrata" EXACT [] -synonym: "Furrows in thickened skin on top of scalp" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Scalp folds" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Scalp furrows" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thickened folds on top of scalp" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thickening of the scalp" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Furrows in thickened skin on top of scalp" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Scalp folds" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Scalp furrows" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Thickened folds on top of scalp" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thickening of the scalp" RELATED layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:51603000 xref: UMLS:C0263417 xref: UMLS:C4072877 @@ -77083,7 +77221,7 @@ creation_date: 2009-10-01T08:30:25Z id: HP:0010550 name: Paraplegia def: "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:probinson] -synonym: "Leg paralysis" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Leg paralysis" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010264 xref: SNOMEDCT_US:60389000 xref: UMLS:C0030486 @@ -77123,7 +77261,7 @@ subset: hposlim_core synonym: "Cutaneous syndactyly of fingers" EXACT [] synonym: "Cutaneous syndactyly of hands" EXACT [] synonym: "Webbed fingers" EXACT layperson [pmid:16200145] -synonym: "Webbed skin of fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed skin of fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021254 is_a: HP:0006101 ! Finger syndactyly is_a: HP:0012725 ! Cutaneous syndactyly @@ -77165,7 +77303,7 @@ id: HP:0010560 name: Undulate clavicles def: "An abnormally wavy surface or edge of the clavicles." [HPO:curators] synonym: "Wavy clavicles" EXACT [] -synonym: "Wavy collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wavy collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021253 is_a: HP:0000889 ! Abnormality of the clavicle created_by: peter @@ -77200,7 +77338,7 @@ name: Bifid epiglottis def: "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation." [HPO:curators] xref: SNOMEDCT_US:232412004 xref: UMLS:C0339864 -is_a: HP:0005483 ! Abnormality of the epiglottis +is_a: HP:0005483 ! Abnormal epiglottis morphology created_by: sandra1 creation_date: 2009-10-16T02:20:48Z @@ -77209,7 +77347,7 @@ id: HP:0010565 name: Aplasia/Hypoplasia of the Epiglottis def: "This term applies if the Epiglottis is absent or hypoplastic." [HPO:curators] xref: UMLS:C4023790 -is_a: HP:0005483 ! Abnormality of the epiglottis +is_a: HP:0005483 ! Abnormal epiglottis morphology created_by: sandra1 creation_date: 2009-10-16T02:27:31Z @@ -77229,7 +77367,7 @@ creation_date: 2009-10-16T02:51:16Z id: HP:0010567 name: Y-shaped metatarsals def: "Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly." [HPO:curators] -synonym: "Y-shaped long bone of foot" EXACT [http://orcid.org/0000-0001-5208-3432] +synonym: "Y-shaped long bone of foot" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023789 is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: sandra1 @@ -77285,7 +77423,7 @@ name: Abnormality of the epiphysis of the femoral head alt_id: HP:0010589 def: "Any abnormality of the proximal epiphysis of the femur." [HPO:sdoelken] comment: Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head. -synonym: "Abnormality of the end part of the innermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal femoral epiphysis" EXACT [] xref: UMLS:C4021252 is_a: HP:0003368 ! Abnormality of the femoral head @@ -77297,7 +77435,7 @@ creation_date: 2009-10-21T01:28:23Z id: HP:0010575 name: Dysplasia of the femoral head def: "The presence of developmental dysplasia of the femoral head." [HPO:probinson] -synonym: "Abnormality of femoral head development" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of femoral head development" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Dysplastic femoral head" EXACT [] xref: UMLS:C4021251 xref: UMLS:C4280377 @@ -77318,7 +77456,7 @@ creation_date: 2009-10-22T01:38:49Z [Term] id: HP:0010577 name: Absent epiphyses -synonym: "Absent end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021862 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 @@ -77327,7 +77465,7 @@ creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010578 name: Bracket epiphyses -synonym: "Bracket shaped end part of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023785 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 @@ -77339,7 +77477,7 @@ name: Cone-shaped epiphysis alt_id: HP:0000937 alt_id: HP:0006078 def: "Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery." [HPO:probinson] -synonym: "Cone-shaped end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses" EXACT [] xref: UMLS:C1865037 is_a: HP:0005930 ! Abnormality of epiphysis morphology @@ -77353,7 +77491,7 @@ alt_id: HP:0003018 alt_id: HP:0003055 alt_id: HP:0005082 def: "Increased size of epiphyses." [HPO:probinson] -synonym: "Large end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Large end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large epiphyses" EXACT [] synonym: "Widened, distorted epiphyses" EXACT [] xref: UMLS:C1833328 @@ -77371,7 +77509,7 @@ alt_id: HP:0005023 alt_id: HP:0005749 alt_id: HP:0010581 def: "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance." [HPO:probinson] -synonym: "Irregular end part of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846449 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 @@ -77382,7 +77520,7 @@ id: HP:0010583 name: Ivory epiphyses def: "Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:sdoelken] synonym: "Epiphyseal sclerosis" EXACT [] -synonym: "Increased bone density in end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856911 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 @@ -77401,7 +77539,7 @@ id: HP:0010585 name: Small epiphyses alt_id: HP:0005730 def: "Reduction in the size or volume of epiphyses." [HPO:probinson] -synonym: "Small end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846803 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 @@ -77410,7 +77548,7 @@ creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010587 name: Triangular epiphyses -synonym: "Triangular end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023784 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 @@ -77432,7 +77570,7 @@ creation_date: 2009-10-22T02:53:19Z id: HP:0010590 name: Abnormality of the distal femoral epiphysis def: "Any abnormality of the distal epiphysis of the femur." [HPO:probinson] -synonym: "Abnormality of the end part of the outermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023783 is_a: HP:0006499 ! Abnormality of femoral epiphysis created_by: sandra1 @@ -77442,8 +77580,8 @@ creation_date: 2009-10-22T03:00:23Z id: HP:0010591 name: Abnormality of the proximal tibial epiphysis def: "Any abnormality of the proximal epiphysis of the tibia." [HPO:curators] -synonym: "Abnormality of the end part of innermost shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of innermost shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of innermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of innermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023782 is_a: HP:0006508 ! Abnormality of tibial epiphyses created_by: sandra1 @@ -77452,8 +77590,8 @@ creation_date: 2009-10-22T03:03:04Z [Term] id: HP:0010592 name: Abnormality of the distal tibial epiphysis -synonym: "Abnormality of the end part of outermost shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of outermost shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of outermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of outermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023781 is_a: HP:0006508 ! Abnormality of tibial epiphyses created_by: sandra1 @@ -77462,7 +77600,7 @@ creation_date: 2009-10-22T03:03:04Z [Term] id: HP:0010593 name: Abnormality of fibular epiphyses -synonym: "Abnormality of the end part of the calf bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023780 is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology created_by: sandra1 @@ -77472,7 +77610,7 @@ creation_date: 2009-10-22T03:03:34Z id: HP:0010594 name: Abnormality of the proximal fibular epiphysis def: "Any abnormality of the proximal epiphysis of the fibula." [HPO:curators] -synonym: "Abnormality of the innermost end part of calf bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the innermost end part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023779 is_a: HP:0010593 ! Abnormality of fibular epiphyses created_by: sandra1 @@ -77482,7 +77620,7 @@ creation_date: 2009-10-22T03:04:39Z id: HP:0010595 name: Abnormality of the distal fibular epiphysis def: "Any abnormality of the distal epiphysis of the fibula." [HPO:curators] -synonym: "Abnormality of the outermost end part of calf bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the outermost end part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023778 is_a: HP:0010593 ! Abnormality of fibular epiphyses created_by: sandra1 @@ -77511,7 +77649,7 @@ creation_date: 2009-10-22T03:06:29Z id: HP:0010598 name: Abnormality of the proximal humeral epiphysis def: "Any abnormality of the proximal epiphysis of the humerus." [HPO:curators] -synonym: "Abnormality of the end part of the innermost long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023775 is_a: HP:0003891 ! Abnormality of the humeral epiphysis created_by: sandra1 @@ -77521,7 +77659,7 @@ creation_date: 2009-10-22T06:40:29Z id: HP:0010599 name: Abnormality of the distal humeral epiphysis def: "Any abnormality of the distal epiphysis of the humerus." [HPO:curators] -synonym: "Abnormality of the end part of the outermost long bone in upper arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023774 is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow @@ -77573,9 +77711,9 @@ creation_date: 2009-10-27T02:26:31Z id: HP:0010604 name: Cyst of the eyelid synonym: "Cyst of the eyelid" EXACT layperson [] -synonym: "Eyelid bump" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Eyelid mass" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Lesion of the eyelid" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelid bump" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Eyelid mass" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Lesion of the eyelid" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248514008 xref: SNOMEDCT_US:301913002 xref: SNOMEDCT_US:46210008 @@ -77603,8 +77741,8 @@ creation_date: 2009-10-27T10:58:24Z id: HP:0010606 name: Hordeolum def: "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling." [HPO:sdoelken] -synonym: "Red bump on eyelid" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Stye of eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Red bump on eyelid" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Stye of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D006726 xref: SNOMEDCT_US:1489008 xref: SNOMEDCT_US:397513003 @@ -77628,8 +77766,8 @@ creation_date: 2009-10-27T11:33:07Z id: HP:0010608 name: Hordeolum internum def: "Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling." [HPO:curators] -synonym: "Red bump on inner eyelid" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Stye of inner eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Red bump on inner eyelid" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Stye of inner eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:414521009 xref: UMLS:C0085690 xref: UMLS:C4280375 @@ -77750,8 +77888,8 @@ alt_id: HP:0000310 def: "Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face." [DDD:jclayton-smith] comment: Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle. subset: hposlim_core -synonym: "Cheekbone prominence" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of malar bones" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Cheekbone prominence" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of malar bones" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malar excess" EXACT [] synonym: "Malar hyperplasia" EXACT [] synonym: "Prominent malar region" EXACT [] @@ -77771,7 +77909,7 @@ def: "A soft tissue continuity in the anteroposterior axis between adjacent foot subset: hposlim_core synonym: "Cutaneous syndactyly of feet" EXACT [] synonym: "soft tissue syndactyly of toes" EXACT [] -synonym: "Webbed skin of toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed skin of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834737 is_a: HP:0001770 ! Toe syndactyly is_a: HP:0012725 ! Cutaneous syndactyly @@ -77784,7 +77922,7 @@ name: Neoplasm of the skeletal system def: "A tumor (abnormal growth of tissue) of the skeleton." [HPO:probinson] synonym: "Bone neoplasm" RELATED [] synonym: "Neoplasia of the skeletal system" NARROW [] -synonym: "Skeletal tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Skeletal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:442868003 xref: UMLS:C2732838 xref: UMLS:C4020771 @@ -77799,8 +77937,8 @@ name: Aplastic/hypoplastic toenail alt_id: HP:0008381 alt_id: HP:0008389 def: "Absence or underdevelopment of the toenail." [HPO:probinson] -synonym: "Absent/small toenails" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped toenails" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small toenails" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped toenails" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic toenails" EXACT [] synonym: "Hypoplastic-absent toenails" EXACT [] xref: UMLS:C1856749 @@ -77813,7 +77951,7 @@ creation_date: 2009-11-20T05:55:11Z id: HP:0010625 name: Anterior pituitary dysgenesis def: "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis." [DDD:spark, HPO:probinson] -synonym: "Adenohypophysis" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Adenohypophysis" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D010903 xref: SNOMEDCT_US:62818001 xref: UMLS:C0032008 @@ -77826,7 +77964,7 @@ creation_date: 2009-12-05T03:03:17Z id: HP:0010626 name: Anterior pituitary agenesis def: "Absence of the pituitary gland resulting from a developmental defect." [DDD:spark, HPO:probinson] -synonym: "Absent pituitary gland" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent pituitary gland" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the pituitary gland" EXACT [] xref: UMLS:C4021249 is_a: HP:0010625 ! Anterior pituitary dysgenesis @@ -77839,7 +77977,7 @@ name: Anterior pituitary hypoplasia alt_id: HP:0008238 def: "Underdevelopment of the anterior pituitary gland." [DDD:spark, HPO:probinson] synonym: "Hypoplasia of the pituitary gland" RELATED [] -synonym: "Underdeveloped pituitary gland" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped pituitary gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0948740 xref: UMLS:C1859775 is_a: HP:0010625 ! Anterior pituitary dysgenesis @@ -77900,7 +78038,7 @@ creation_date: 2009-12-06T05:45:26Z id: HP:0010630 name: Abnormality of metatarsal epiphysis def: "Any abnormality of a metatarsal bone epiphysis." [HPO:curators] -synonym: "Abnormality of end part of long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of end part of long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphyses of the metatarsals" EXACT [] xref: UMLS:C4021248 is_a: HP:0001832 ! Abnormality of the metatarsal bones @@ -77912,7 +78050,7 @@ creation_date: 2009-12-06T05:58:36Z id: HP:0010631 name: Abnormality of the epiphyses of the feet def: "Any abnormality of the epiphyses of the feet." [HPO:curators] -synonym: "Abnormality of the end part of the foot bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the foot bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023769 is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology created_by: peter @@ -78042,7 +78180,7 @@ creation_date: 2009-12-17T05:06:01Z id: HP:0010645 name: Aplasia of the distal phalanges of the toes def: "Absence of the distal phalanges of the toes." [HPO:curators] -synonym: "Absent outermost bone of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023761 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010745 ! Aplasia of the phalanges of the toes @@ -78084,8 +78222,8 @@ creation_date: 2010-02-23T11:50:37Z id: HP:0010649 name: Flat nasal alae def: "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)." [HPO:probinson] -synonym: "Depressed nasal alae" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Flat nasal alar cartilage" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Depressed nasal alae" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Flat nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4023759 is_a: HP:0000429 ! Abnormality of the nasal alae created_by: peter @@ -78094,23 +78232,23 @@ creation_date: 2010-02-25T10:01:47Z [Term] id: HP:0010650 name: Hypoplasia of the premaxilla -def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures." [HPO:probinson, orcid.org/0000-0001-5889-4463, pmid:19125436] -subset: hposlim_core -synonym: "Decreased size of premaxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of the primary palate bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of the intermaxillary bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of the primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Premaxillary bone deficiency" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Premaxillary bone retrusion" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Premaxillary retrusion" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Premaxillary underdevelopment" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Primary palate bone deficiency" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Primary palate bone retrusion" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small premaxilla" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of premaxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of the premaxilla" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of the primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436] +subset: hposlim_core +synonym: "Decreased size of premaxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Premaxillary bone deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Premaxillary bone retrusion" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Premaxillary retrusion" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Premaxillary underdevelopment" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Primary palate bone deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Primary palate bone retrusion" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Small premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of premaxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4020770 xref: UMLS:C4072878 is_a: HP:0002692 ! Hypoplastic facial bones @@ -78151,7 +78289,7 @@ creation_date: 2010-02-25T10:32:52Z id: HP:0010654 name: Aplasia of the falx cerebri def: "A developmental defect characterized by aplasia of the Falx cerebri." [HPO:probinson] -synonym: "Absent cerebral falx" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent cerebral falx" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023756 is_a: HP:0010653 ! Abnormality of the falx cerebri created_by: peter @@ -78165,7 +78303,7 @@ alt_id: HP:0010586 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses." [HPO:probinson] comment: Stippling resolves with maturation of the epiphysis but is often replaced by some permament epiphyseal abnormality. synonym: "Epiphyseal punctate calcifications" EXACT [] -synonym: "Speckled calcifications in end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippled epiphyses" EXACT [] synonym: "Stippling of the epiphyses" EXACT [] xref: SNOMEDCT_US:360507004 @@ -78180,7 +78318,7 @@ creation_date: 2010-02-25T09:41:24Z id: HP:0010656 name: Abnormal epiphyseal ossification def: "An abnormality of the formation and mineralization of an epiphysis." [HPO:probinson] -synonym: "Abnormal maturation of the end part of a bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of the end part of a bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the mineralisation or ossification of the epiphyses" EXACT [] xref: UMLS:C4021246 is_a: HP:0003336 ! Abnormal enchondral ossification @@ -78223,7 +78361,7 @@ id: HP:0010660 name: Abnormal hand bone ossification alt_id: HP:0005921 def: "An abnormality of the formation and mineralization of any bone of the skeleton of hand." [HPO:probinson] -synonym: "Abnormal maturation of the hand bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of the hand bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification of hand bones" EXACT [] synonym: "Abnormality of the mineralisation and ossification of bones of the hand" EXACT [] xref: UMLS:C4021244 @@ -78255,7 +78393,7 @@ creation_date: 2010-02-26T08:02:38Z id: HP:0010663 name: Abnormality of thalamus morphology def: "An abnormality of the thalamus." [HPO:probinson] -synonym: "Abnormal shape of thalamus" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of thalamus" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the thalamus" EXACT [] xref: UMLS:C4021243 is_a: HP:0010662 ! Abnormality of the diencephalon @@ -78288,13 +78426,13 @@ creation_date: 2010-02-26T08:07:03Z id: HP:0010666 name: Hypoplasia of the anterior nasal spine def: "Underdevelopment of the anterior nasal spine of maxilla." [HPO:probinson] -synonym: "Decreased length of anterior nasal spine" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Decreased projection of anterior nasal spine" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of anterior nasal spine" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deficiency of anterior nasal spine" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic anterior nasal spine" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small anterior nasal spine" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of anterior nasal spine" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of anterior nasal spine" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Decreased projection of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deficiency of anterior nasal spine" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic anterior nasal spine" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023751 xref: UMLS:C4280372 xref: UMLS:C4280373 @@ -78306,13 +78444,13 @@ creation_date: 2010-02-26T08:10:11Z id: HP:0010667 name: Aplasia of the maxilla def: "A congenital defect characterized by absence of the Maxilla." [HPO:probinson] -synonym: "Absence of the maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Absence of upper jaw bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of the maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of the upper jaw bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of upper jaw bones" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper jaw bones" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of the maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Absence of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of the maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of the upper jaw bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of upper jaw bones" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023750 xref: UMLS:C4280371 is_a: HP:0000326 ! Abnormality of the maxilla @@ -78324,11 +78462,11 @@ creation_date: 2010-02-26T08:11:45Z id: HP:0010668 name: Abnormality of the zygomatic bone def: "An abnormality of the zygomatic bone." [HPO:curators] -synonym: "Abnormality of the cheekbone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the zygomatic bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the cheekbone" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the zygomatic bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the zygomatic bone" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the cheekbone" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4023749 is_a: HP:0011821 ! Abnormality of facial skeleton created_by: peter @@ -78337,23 +78475,23 @@ creation_date: 2010-02-26T08:13:11Z [Term] id: HP:0010669 name: Hypoplasia of the zygomatic bone -def: "Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch." [HPO:probinson, orcid.org/0000-0001-5889-4463, pmid:19125436] -synonym: "Cheekbone underdevelopment" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of cheekbone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of zygomatic bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Depressed cheekbone" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Depressed zygomatic bone" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Flattening of the zygomatic bone" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypoplasia of cheekbone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic cheekbone" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic zygomatic bone" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophy of the cheekbone" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophy of the zygomatic bone" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Small cheekbone" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small malar bone" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small zygomatic bone" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of cheekbone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of zygomatic bone" EXACT [orcid.org/0000-0001-5889-4463] +def: "Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436] +synonym: "Cheekbone underdevelopment" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of zygomatic bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Depressed cheekbone" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Depressed zygomatic bone" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Flattening of the zygomatic bone" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypoplasia of cheekbone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic cheekbone" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic zygomatic bone" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophy of the cheekbone" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophy of the zygomatic bone" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Small cheekbone" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Small malar bone" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Small zygomatic bone" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of zygomatic bone" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021242 xref: UMLS:C4072879 xref: UMLS:C4280368 @@ -78368,7 +78506,7 @@ creation_date: 2010-02-26T08:14:04Z id: HP:0010672 name: Abnormality of the third metatarsal bone def: "An abnormality of the third metatarsal bone." [HPO:probinson] -synonym: "Abnormality of the 3rd long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023748 is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: peter @@ -78378,8 +78516,8 @@ creation_date: 2010-02-26T08:22:51Z id: HP:0010674 name: Abnormality of the curvature of the vertebral column def: "The presence of an abnormal curvature of the vertebral column." [HPO:probinson] -synonym: "Abnormal curve of the backbone" EXACT layperson [http://orcid.org/0000-0001-6908-9849] -synonym: "Abnormal curve of the spine" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Abnormal curve of the backbone" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Abnormal curve of the spine" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4023747 is_a: HP:0000925 ! Abnormality of the vertebral column created_by: sandra1 @@ -78391,7 +78529,7 @@ name: Abnormal foot bone ossification alt_id: HP:0008370 alt_id: HP:0009133 def: "An abnormality of the formation and mineralization of any bone of the skeleton of foot." [HPO:probinson] -synonym: "Abnormal maturation of foot bones" RELATED [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of foot bones" RELATED [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification involving bones of the feet" RELATED [] synonym: "Abnormality of the mineralisation and ossification of bones of the feet" EXACT [] xref: UMLS:C4020768 @@ -78568,10 +78706,10 @@ creation_date: 2010-03-05T05:05:05Z id: HP:0010692 name: 2-5 finger syndactyly def: "Syndactyly with fusion of fingers two to five." [HPO:sdoelken] -synonym: "Webbed 2nd-5th fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Webbed index, middle and little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Webbed index, middle and pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Webbed index, middle and pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 2nd-5th fingers" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Webbed index, middle and little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Webbed index, middle and pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Webbed index, middle and pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023736 is_a: HP:0006101 ! Finger syndactyly created_by: doelkens @@ -78710,8 +78848,8 @@ creation_date: 2010-03-22T08:20:07Z id: HP:0010704 name: 1-2 finger syndactyly def: "Syndactyly with fusion of fingers one and two." [HPO:sdoelken] -synonym: "Webbed 1st-2nd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Webbed thumb and index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 1st-2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Webbed thumb and index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023732 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken @@ -78721,7 +78859,7 @@ creation_date: 2010-03-26T05:07:14Z id: HP:0010705 name: 4-5 finger syndactyly def: "Syndactyly with fusion of fingers four and five." [HPO:sdoelken] -synonym: "Webbed 4th-5th finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 4th-5th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023731 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken @@ -78731,7 +78869,7 @@ creation_date: 2010-03-26T05:12:44Z id: HP:0010706 name: 1-3 finger syndactyly def: "Syndactyly with fusion of fingers one to three." [HPO:sdoelken] -synonym: "Webbed 1st-3rd finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 1st-3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023730 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken @@ -78741,7 +78879,7 @@ creation_date: 2010-03-26T05:12:44Z id: HP:0010707 name: 1-4 finger syndactyly def: "Syndactyly with fusion of fingers one to four." [HPO:sdoelken] -synonym: "Webbed 1st-4th finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 1st-4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023729 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken @@ -78751,7 +78889,7 @@ creation_date: 2010-03-26T05:12:44Z id: HP:0010708 name: 1-5 finger syndactyly def: "Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand)." [HPO:sdoelken] -synonym: "Webbed 1st-5th fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 1st-5th fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023728 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken @@ -78764,7 +78902,7 @@ alt_id: HP:0005797 alt_id: HP:0006018 def: "Syndactyly with fusion of the fingers two to four." [HPO:sdoelken] synonym: "Syndactyly of second to fourth fingers" EXACT [] -synonym: "Webbed index through ring fingers" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed index through ring fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021236 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken @@ -78774,7 +78912,7 @@ creation_date: 2010-03-26T05:12:44Z id: HP:0010710 name: 3-5 finger syndactyly def: "Syndactyly with fusion of fingers three to five." [HPO:sdoelken] -synonym: "Webbed third, fourth and fifth toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed third, fourth and fifth toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023727 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken @@ -78784,7 +78922,7 @@ creation_date: 2010-03-26T05:12:44Z id: HP:0010711 name: 1-2 toe syndactyly def: "Syndactyly with fusion of toes one and two." [HPO:sdoelken] -synonym: "Webbed first and second toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed first and second toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023726 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken @@ -78794,7 +78932,7 @@ creation_date: 2010-03-26T05:22:26Z id: HP:0010712 name: 1-4 toe syndactyly def: "Syndactyly with fusion of toes one to four." [HPO:sdoelken] -synonym: "Webbed first through fourth toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed first through fourth toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023725 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken @@ -78806,7 +78944,7 @@ name: 1-5 toe syndactyly alt_id: HP:0005812 def: "Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot)." [HPO:sdoelken] synonym: "Syndactyly of all toes" EXACT [] -synonym: "Webbed 1st-5th toes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Webbed 1st-5th toes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021235 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken @@ -78820,7 +78958,7 @@ alt_id: HP:0005708 def: "Syndactyly with fusion of toes two to four." [HPO:sdoelken] synonym: "Syndactyly of toes 2, 3 and 4" EXACT [] synonym: "Syndactyly toes 2-4" EXACT [] -synonym: "Webbed 2nd-4th toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 2nd-4th toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021234 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken @@ -78830,7 +78968,7 @@ creation_date: 2010-03-26T05:22:26Z id: HP:0010715 name: 2-5 toe syndactyly def: "Syndactyly with fusion of toes two to five." [HPO:sdoelken] -synonym: "Webbed 2nd-5th toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 2nd-5th toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023724 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken @@ -78840,7 +78978,7 @@ creation_date: 2010-03-26T05:22:26Z id: HP:0010716 name: 3-5 toe syndactyly def: "Syndactyly with fusion of toes three to five." [HPO:sdoelken] -synonym: "Webbed 3rd-5th toes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Webbed 3rd-5th toes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023723 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken @@ -78865,10 +79003,10 @@ name: Abnormality of hair texture alt_id: HP:0002295 alt_id: HP:0003776 def: "An abnormality of the texture of the hair." [HPO:probinson] -synonym: "Abnormality of hair consistency" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of hair curl pattern" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of hair consistency" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of hair curl pattern" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of hair texture" EXACT layperson [] -synonym: "Abnormality of hair volume" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of hair volume" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023722 xref: UMLS:C4072880 xref: UMLS:C4072881 @@ -78881,7 +79019,7 @@ creation_date: 2010-04-20T09:41:53Z id: HP:0010720 name: Abnormal hair pattern def: "An abnormality of the distribution of hair growth." [HPO:probinson] -synonym: "Abnormal distribution of hair" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal distribution of hair" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal hair pattern" EXACT layperson [] xref: UMLS:C4023721 is_a: HP:0001595 ! Abnormality of the hair @@ -78954,7 +79092,7 @@ creation_date: 2010-04-20T11:05:28Z id: HP:0010728 name: Aplasia of the retina def: "A developmental defect characterized by absence of the retina." [HPO:probinson] -synonym: "Absent retina" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023718 is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina created_by: sdoelken @@ -78977,7 +79115,7 @@ def: "This may present as a partial or complete duplication of the eyebrows." [H comment: Double eyebrow is commonly a feature of Mowat Wilson syndrome. subset: hposlim_core synonym: "Double eyebrow" EXACT layperson [] -synonym: "Duplication of eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Duplication of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:253209004 xref: UMLS:C0431449 is_a: HP:0000534 ! Abnormal eyebrow morphology @@ -78999,7 +79137,7 @@ creation_date: 2010-04-21T04:46:32Z id: HP:0010732 name: Nodular changes affecting the eyelids def: "Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more." [HPO:sdoelken] -synonym: "Eyelid nodules" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelid nodules" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023716 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0200036 ! Skin nodule @@ -79010,7 +79148,7 @@ creation_date: 2010-04-21T05:11:04Z id: HP:0010733 name: Naevus flammeus of the eyelid def: "Naevus flammeus localised in the skin of the eyelid." [HPO:sdoelken] -synonym: "Port-wine stain on eyelid" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Port-wine stain on eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1854409 is_a: HP:0001052 ! Nevus flammeus created_by: doelkens @@ -79074,7 +79212,7 @@ creation_date: 2010-04-21T07:30:24Z id: HP:0010741 name: Edema of the lower limbs def: "An abnormal accumulation of fluid beneath the skin of the legs." [HPO:probinson] -synonym: "Fluid accumulation in lower limbs" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fluid accumulation in lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Leg edema" EXACT [] synonym: "Peripheral edema of lower extremity" EXACT [] xref: SNOMEDCT_US:102572006 @@ -79089,7 +79227,7 @@ creation_date: 2010-04-22T02:16:54Z id: HP:0010742 name: Edema of the upper limbs def: "An abnormal accumulation of fluid beneath the skin of the arms." [HPO:probinson] -synonym: "Fluid accumulation in upper limbs" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fluid accumulation in upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:102558002 xref: UMLS:C0522035 is_a: HP:0000969 ! Edema @@ -79110,7 +79248,7 @@ comment: This is a subjective assessment and one generally compares the position subset: hposlim_core synonym: "Hypoplasia of the metatarsal bones" EXACT [] synonym: "Hypoplastic metatarsals" EXACT [] -synonym: "Short long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short metatarsal bone" EXACT [] synonym: "Short metatarsal bones" RELATED [HPO:skoehler] synonym: "Short metatarsals" EXACT [] @@ -79126,7 +79264,7 @@ creation_date: 2010-04-22T04:30:18Z id: HP:0010744 name: Absent metatarsal bone def: "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone." [HPO:probinson] -synonym: "Absent long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the metatarsal bones" EXACT [] xref: UMLS:C4021232 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones @@ -79137,7 +79275,7 @@ creation_date: 2010-04-22T04:30:18Z id: HP:0010745 name: Aplasia of the phalanges of the toes def: "Absence of a digit or of one or more phalanges of a toe." [HPO:probinson] -synonym: "Absent bones of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aphalangia of the toes" EXACT [] xref: UMLS:C4021231 is_a: HP:0009817 ! Aplasia involving bones of the lower limbs @@ -79148,7 +79286,7 @@ creation_date: 2010-04-22T04:33:06Z [Term] id: HP:0010746 name: Hypoplasia of the phalanges of the toes -synonym: "Small toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023715 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes created_by: doelkens @@ -79182,7 +79320,7 @@ name: Blepharochalasis def: "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads." [PMID:3207663] comment: Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis. subset: hposlim_core -synonym: "Saggy upper eyelid skin" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Saggy upper eyelid skin" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:47704002 xref: UMLS:C0005742 is_a: HP:0100540 ! Palpebral edema @@ -79193,12 +79331,12 @@ creation_date: 2010-04-23T09:53:13Z id: HP:0010750 name: Dermatochalasis def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." [HPO:probinson] -synonym: "Baggy eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Droopy eyelid skin" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Extra eyelid skin" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Baggy eyes" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Droopy eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Extra eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Eyelid dermatochalasia" EXACT [] -synonym: "Hooding of eyelids" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Redundant eyelid skin" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hooding of eyelids" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Redundant eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:246815009 xref: UMLS:C0423124 xref: UMLS:C2674149 @@ -79212,13 +79350,13 @@ name: Dimple chin def: "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436] subset: hposlim_core synonym: "Chin butt" EXACT layperson [] -synonym: "Chin dent" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Chin dent" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Chin dimple" EXACT layperson [] synonym: "Chin dimples" RELATED layperson [HPO:skoehler] synonym: "Chin skin dimple" EXACT layperson [] synonym: "Dimple chin" EXACT layperson [] -synonym: "Gelasin of chin" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Indentation of chin" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Gelasin of chin" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Indentation of chin" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1849227 is_a: HP:0000306 ! Abnormality of the chin created_by: sdoelken @@ -79230,7 +79368,7 @@ name: Cleft mandible def: "Midline deficiency of the mandible and some or all overlying tissues." [pmid:19125436] subset: hposlim_core synonym: "Cleft lower jaw" EXACT layperson [] -synonym: "Mandibular cleft" EXACT [http://orcid.org/0000-0001-5889-4463] +synonym: "Mandibular cleft" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:92822004 xref: UMLS:C0685786 is_a: HP:0010753 ! Midline defect of mandible @@ -79240,7 +79378,7 @@ creation_date: 2010-04-23T10:32:09Z [Term] id: HP:0010753 name: Midline defect of mandible -synonym: "Midline cleft of mandible" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Midline cleft of mandible" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023714 is_a: HP:0000277 ! Abnormality of the mandible created_by: sdoelken @@ -79250,13 +79388,13 @@ creation_date: 2010-04-23T10:32:46Z id: HP:0010754 name: Abnormality of the temporomandibular joint def: "An anomaly of the temporomandibular joint." [HPO:probinson] -synonym: "Abnormality of the jaw joint" EXACT [] {synonymtypedef="layperson"} -synonym: "Anomaly of the temporomandibular joint" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the jaw joint" EXACT [] {synonymtypedef="layperson"} -synonym: "Deformity of the temporomandibular joint" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Derangement of the temporomandibular joint" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of jaw joint" EXACT [] {synonymtypedef="layperson"} -synonym: "Malformation of the temporomandibular joint" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the jaw joint" EXACT layperson [] +synonym: "Anomaly of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the jaw joint" EXACT layperson [] +synonym: "Deformity of the temporomandibular joint" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Derangement of the temporomandibular joint" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of jaw joint" EXACT layperson [] +synonym: "Malformation of the temporomandibular joint" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248401009 xref: SNOMEDCT_US:75630004 xref: UMLS:C0266941 @@ -79270,22 +79408,22 @@ creation_date: 2010-04-23T10:36:28Z [Term] id: HP:0010755 name: Asymmetry of the maxilla -def: "Asymmetry between the left and right sides of the maxilla." [orcid.org/0000-0001-5889-4463] -subset: hposlim_core -synonym: "Asymmetry of right and left side of the maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Asymmetry of the upper jaw" BROAD [orcid.org/0000-0001-5889-4463] {synonymtypedef="layperson"} -synonym: "Asymmetry of upper jaw" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Canted maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Canted upper jaw" EXACT [orcid.org/0000-0001-5889-4463] {synonymtypedef="layperson"} -synonym: "Crooked maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Crooked upper jaw" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deviation of the maxilla" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Deviation of the upper jaw" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tilted maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Tilted upper jaw" EXACT [orcid.org/0000-0001-5889-4463] {synonymtypedef="layperson"} -synonym: "Unequal sides of maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Uneven maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Uneven upper jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] +def: "Asymmetry between the left and right sides of the maxilla." [ORCID:0000-0001-5889-4463] +subset: hposlim_core +synonym: "Asymmetry of right and left side of the maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Asymmetry of the upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Asymmetry of upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Canted maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Canted upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Crooked upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Deviation of the maxilla" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Deviation of the upper jaw" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Tilted maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Tilted upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Unequal sides of maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Uneven maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Uneven upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235083001 xref: UMLS:C0399519 is_a: HP:0000326 ! Abnormality of the maxilla @@ -79296,8 +79434,8 @@ creation_date: 2010-04-23T10:38:44Z id: HP:0010756 name: Aplasia/Hypoplasia of the premaxilla def: "Absence or underdevelopment of the premaxilla." [HPO:probinson] -synonym: "Aplasia/hypoplasia of the intermaxillary bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia/hypoplasia of the primary palate bone" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Aplasia/hypoplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Aplasia/hypoplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023713 is_a: HP:0010758 ! Abnormality of the premaxilla created_by: sdoelken @@ -79307,15 +79445,15 @@ creation_date: 2010-04-23T10:40:40Z id: HP:0010757 name: Aplasia of the premaxilla def: "Absence of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla." [HPO:probinson] -synonym: "Absence of the intermaxillary bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of the premaxilla" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of the primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of the intermaxillary bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of the primary palate bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of premaxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of the primary palate bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing premaxilla" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of the intermaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of premaxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023712 is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla is_a: HP:0040008 ! Aplasia of facial bones @@ -79325,11 +79463,11 @@ creation_date: 2010-04-23T10:42:17Z [Term] id: HP:0010758 name: Abnormality of the premaxilla -def: "An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate." [HPO:sdoelken, orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the intermaxillary bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the intermaxillary segment of the maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the premaxillary bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate." [HPO:sdoelken, ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the intermaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the intermaxillary segment of the maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the premaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023711 is_a: HP:0000326 ! Abnormality of the maxilla created_by: sdoelken @@ -79338,14 +79476,14 @@ creation_date: 2010-04-23T10:59:07Z [Term] id: HP:0010759 name: Prominence of the premaxilla -def: "Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla." [HPO:sdoelken, orcid.org/0000-0001-5889-4463, pmid:19125436] +def: "Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla." [HPO:sdoelken, ORCID:0000-0001-5889-4463, pmid:19125436] comment: As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated. subset: hposlim_core -synonym: "Anterior position of the premaxilla" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anterior position of the primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Premaxillary bone excess" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominence of the intermaxillary bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominence of the primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anterior position of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anterior position of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Premaxillary bone excess" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominence of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominence of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2749369 is_a: HP:0010758 ! Abnormality of the premaxilla created_by: sdoelken @@ -79376,9 +79514,9 @@ def: "Increased width of the columella." [pmid:19152422] subset: hposlim_core synonym: "Columella, broad" EXACT [] synonym: "Columella, wide" EXACT [] -synonym: "Fullness of columella" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of columella" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of columella" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Fullness of columella" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of columella" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased width of columella" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1851059 xref: UMLS:C4280365 is_a: HP:0009929 ! Abnormality of the columella @@ -79403,7 +79541,7 @@ name: Low insertion of columella def: "Insertion of the posterior columella below the nasal base." [pmid:19152422] comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. subset: hposlim_core -synonym: "Ala higher than columella" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Ala higher than columella" BROAD [ORCID:0000-0001-5889-4463] synonym: "Columella, low insertion" EXACT [] xref: UMLS:C4021229 xref: UMLS:C4280364 @@ -79416,7 +79554,7 @@ id: HP:0010764 name: Short eyelashes def: "Decreased length of the eyelashes (subjective)." [HPO:probinson] comment: Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. -synonym: "Decreased length of eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short eyelashes" EXACT layperson [] xref: UMLS:C2748682 is_a: HP:0000499 ! Abnormality of the eyelashes @@ -79504,6 +79642,7 @@ id: HP:0010773 name: Partial anomalous pulmonary venous return def: "A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung." [HPO:probinson] synonym: "Partial anomalous pulmonary venous connection" EXACT [] +xref: Fyler:2030 xref: SNOMEDCT_US:68237008 xref: UMLS:C0158634 is_a: HP:0010772 ! Anomalous pulmonary venous return @@ -79515,6 +79654,7 @@ id: HP:0010774 name: Cor triatriatum def: "The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)." [DDD:dbrown, HPO:probinson] synonym: "Triatrial heart" EXACT [] +xref: Fyler:3031 xref: ICD-10:Q24.2 xref: UMLS:C4023708 is_a: HP:0005120 ! Abnormal cardiac atrium morphology @@ -79526,6 +79666,7 @@ id: HP:0010775 name: Vascular ring def: "A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails." [HPO:probinson] synonym: "Vascular ring of aorta" EXACT [] +xref: Fyler:2760 xref: SNOMEDCT_US:110409004 xref: SNOMEDCT_US:66403007 xref: UMLS:C0221214 @@ -79558,7 +79699,7 @@ id: HP:0010778 name: Tracheomegaly def: "Marked widening of the trachea." [HPO:probinson] xref: UMLS:C4023705 -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology created_by: sdoelken creation_date: 2010-04-29T10:28:51Z @@ -79636,7 +79777,7 @@ name: Uterine neoplasm def: "A tumor (abnormal growth of tissue) of the uterus." [HPO:probinson] synonym: "Uterine cancer" BROAD layperson [] synonym: "Uterine neoplasia" RELATED [] -synonym: "Uterine tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uterine tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014594 xref: SNOMEDCT_US:126908007 xref: UMLS:C0042138 @@ -79673,7 +79814,7 @@ id: HP:0010787 name: Genital neoplasm def: "A tumor (abnormal growth of tissue) of the genital system." [HPO:probinson] synonym: "Genital neoplasia" RELATED [] -synonym: "Genital tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Genital tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0679347 xref: UMLS:C4020767 is_a: HP:0000078 ! Abnormality of the genital system @@ -79687,7 +79828,7 @@ name: Testicular neoplasm def: "The presence of a neoplasm of the testis." [HPO:probinson] synonym: "Testicular cancer" BROAD layperson [] synonym: "Testicular neoplasia" RELATED [] -synonym: "Testicular tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Testicular tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D013736 xref: SNOMEDCT_US:126900000 xref: UMLS:C0039590 @@ -79730,7 +79871,7 @@ name: Bifid nail def: "A digit with two nails, with at least some soft tissue between them." [pmid:19125433] subset: hposlim_core synonym: "duplicated nail" EXACT [] -synonym: "Notched nail" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Notched nail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:110992006 xref: UMLS:C0544857 is_a: HP:0002164 ! Nail dysplasia @@ -79784,7 +79925,7 @@ name: Lip freckle def: "Increased focal pigmentation of the vermilion of the lips." [pmid:19125428] comment: Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin. subset: hposlim_core -synonym: "Ephelis of lip" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Ephelis of lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Labial lentigo" EXACT [] synonym: "Lip freckle" EXACT layperson [] synonym: "Lip lentigo" EXACT [] @@ -79815,11 +79956,11 @@ def: "Lack of paramedian peaks and median notch of the upper lip vermilion." [pm comment: This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately. subset: hposlim_core synonym: "Absent cupid's bow" EXACT layperson [] -synonym: "Agenesis of cupid's bow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of cupid's bow" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of cupid's bow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lack of cupid's bow" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing cupid's bow" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of cupid's bow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of cupid's bow" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of cupid's bow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lack of cupid's bow" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing cupid's bow" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2053435 is_a: HP:0011339 ! Abnormality of upper lip vermillion created_by: peter @@ -79830,11 +79971,11 @@ id: HP:0010801 name: Underdeveloped nasolabial fold def: "Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)." [pmid:19125428] subset: hposlim_core -synonym: "Flat nasolabial fold" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Flat nasolabial fold" EXACT [ORCID:0000-0001-5889-4463] synonym: "Nasolabial crease, hypoplastic" EXACT [] synonym: "Nasolabial crease, underdeveloped" EXACT [] synonym: "Nasolabial fold, hypoplastic" EXACT [] -synonym: "Shallow nasolabial fold" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Shallow nasolabial fold" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021227 is_a: HP:0005289 ! Abnormality of the nasolabial region created_by: peter @@ -79845,8 +79986,8 @@ id: HP:0010802 name: Perioral hyperpigmentation def: "Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips." [pmid:19125428] comment: Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately. -synonym: "Darkening of skin around the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased pigmentation around the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Darkening of skin around the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased pigmentation around the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023699 is_a: HP:0000153 ! Abnormality of the mouth is_a: HP:0001000 ! Abnormality of skin pigmentation @@ -79859,12 +80000,12 @@ name: Everted upper lip vermilion def: "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip." [HPO:probinson, pmid:19125428] comment: In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately. subset: hposlim_core -synonym: "Drooping upper lip" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Eclabium of upper lip" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Everted prominent upper lip" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Everted upper lip" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Outward turned upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Protruding upper lip" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Drooping upper lip" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Eclabium of upper lip" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Everted prominent upper lip" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Everted upper lip" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Outward turned upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Protruding upper lip" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3275452 xref: UMLS:C4023698 xref: UMLS:C4280363 @@ -79897,8 +80038,8 @@ def: "Oral commissures positioned superior to the midline labial fissure." [pmid comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. subset: hposlim_core synonym: "Upturned corners of mouth" EXACT layperson [] -synonym: "Upturned mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Upturned oral commisures" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Upturned mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Upturned oral commisures" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C3553471 is_a: HP:0011338 ! Abnormality of mouth shape created_by: peter @@ -79912,7 +80053,7 @@ def: "Gentle upward curve of the upper lip vermilion such that the center is pla comment: The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms). synonym: "Carp-like mouth" EXACT layperson [] synonym: "Carp-shaped mouth" EXACT layperson [] -synonym: "Fish mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fish mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large, carp-shaped mouth" EXACT layperson [] synonym: "Wide, carp-shaped mouth" EXACT layperson [] xref: UMLS:C1856202 @@ -79926,9 +80067,9 @@ name: Open bite def: "Visible space between the dental arches in occlusion." [pmid:19125428] comment: An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion. subset: hposlim_core -synonym: "Absence of overlap of upper and lower teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of overlap of upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Open bite" EXACT layperson [] -synonym: "Open bite between upper and lower teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Open bite between upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D024343 xref: SNOMEDCT_US:35580009 xref: UMLS:C0266061 @@ -79942,14 +80083,14 @@ name: Protruding tongue def: "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] comment: Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately. subset: hposlim_core -synonym: "Lingual prolapse" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lingual prominence" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lingual protrusion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prolapse of tongue" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lingual prolapse" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lingual prominence" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lingual protrusion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prolapse of tongue" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding tongue" EXACT layperson [] synonym: "Tongue protrusion" EXACT [] -synonym: "Tongue sticking out of mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Tongue sticking out of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249872000 xref: SNOMEDCT_US:285503005 xref: UMLS:C0241442 @@ -79975,9 +80116,9 @@ name: Long uvula def: "Increased length of the uvula." [pmid:19125428] comment: In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. subset: hposlim_core -synonym: "Elongated uvula" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of uvula" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Long palatine uvula" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Elongated uvula" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of uvula" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Long palatine uvula" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023697 xref: UMLS:C4280362 is_a: HP:0000172 ! Abnormality of the uvula @@ -79989,8 +80130,8 @@ id: HP:0010811 name: Narrow uvula def: "Decreased width of the uvula." [pmid:19125428] subset: hposlim_core -synonym: "Narrow palatine uvula" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Thin uvula" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Narrow palatine uvula" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Thin uvula" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023696 is_a: HP:0000172 ! Abnormality of the uvula created_by: peter @@ -80001,9 +80142,9 @@ id: HP:0010812 name: Short uvula def: "Decreased length of the uvula." [pmid:19125428] comment: Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. -synonym: "Blunt uvula" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Blunt uvula" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic uvula" EXACT [] -synonym: "Short palatine uvula" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Short palatine uvula" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1401781 is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula created_by: peter @@ -80015,13 +80156,13 @@ name: Abnormal number of hair whorls def: "More than two clockwise hair whorls." [pmid:19125436] comment: Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. subset: hposlim_core -synonym: "Abnormal number of hair swirls" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal number of hair swirls" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal number of hair whorls" EXACT layperson [] -synonym: "Double crown (hair whorls)" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Extra hair swirls" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Extra hair whorl" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Supernumary hair swirls" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Supernumary hair whorl" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Double crown (hair whorls)" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Extra hair swirls" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Extra hair whorl" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Supernumary hair swirls" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Supernumary hair whorl" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023695 is_a: HP:0010721 ! Abnormal hair whorl created_by: peter @@ -80033,7 +80174,7 @@ name: Abnormal position of hair whorl def: "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull." [pmid:19125436] comment: Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls. subset: hposlim_core -synonym: "Abnormal location of hair swirl" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal location of hair swirl" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal position of hair whorl" EXACT layperson [] xref: UMLS:C4023694 is_a: HP:0010721 ! Abnormal hair whorl @@ -80046,7 +80187,7 @@ name: Nevus sebaceous def: "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly." [HPO:probinson] synonym: "Naevus sebaceous" EXACT [] synonym: "Organoid nevus" EXACT [] -synonym: "Sebaceous mole" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Sebaceous mole" EXACT [ORCID:0000-0001-5208-3432] synonym: "Sebaceous naevus" EXACT [] synonym: "Sebaceous nevus" EXACT [] xref: MSH:D054000 @@ -80153,7 +80294,7 @@ id: HP:0010823 name: Ridged cranial sutures def: "An overlap of the bony plates of the skull in an infant, with or without early closure." [HPO:probinson] subset: hposlim_core -synonym: "Cranial suture ridges" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cranial suture ridges" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023692 is_a: HP:0011329 ! Abnormality of cranial sutures created_by: peter @@ -80174,7 +80315,7 @@ creation_date: 2010-07-10T03:51:21Z id: HP:0010825 name: Abnormality of the eleventh cranial nerve def: "Abnormality of the eleventh cranial nerve." [HPO:probinson] -synonym: "Abnormality of cranial nerve XI" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of cranial nerve XI" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the accessory nerve" EXACT [] xref: UMLS:C4021225 is_a: HP:0001291 ! Abnormality of the cranial nerves @@ -80185,8 +80326,8 @@ creation_date: 2010-07-10T03:54:53Z id: HP:0010826 name: Abnormality of the twelfth cranial nerve def: "Abnormality of the twelfth cranial nerve." [HPO:probinson] -synonym: "Abnormality of cranial nerve 12" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of cranial nerve xii" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of cranial nerve 12" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of cranial nerve xii" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the hypoglossal nerve" EXACT [] xref: UMLS:C4021224 is_a: HP:3000075 ! Abnormal lingual nerve morphology @@ -80209,7 +80350,7 @@ name: Hemifacial spasm def: "A segmental myoclonus of muscles innervated by the facial nerve." [HPO:probinson] comment: Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus. synonym: "Hemifacial spasms" RELATED [HPO:skoehler] -synonym: "Spasms on one side of the face" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Spasms on one side of the face" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D019569 xref: SNOMEDCT_US:13753008 xref: UMLS:C0278152 @@ -80297,7 +80438,7 @@ id: HP:0010836 name: Abnormality of copper homeostasis def: "An abnormal concentration of copper." [HPO:probinson] comment: An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins. -synonym: "Abnormal copper levels" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal copper levels" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020766 xref: UMLS:C4023689 is_a: HP:0011030 ! Abnormality of transition element cation homeostasis @@ -80761,6 +80902,7 @@ creation_date: 2010-09-13T08:24:04Z id: HP:0010882 name: Pulmonary valve atresia def: "A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop." [HPO:probinson] +xref: Fyler:1001 xref: MSH:D018633 xref: SNOMEDCT_US:204342004 xref: SNOMEDCT_US:448564004 @@ -80927,7 +81069,7 @@ id: HP:0010896 name: Hypersarcosinemia def: "An elevated plasma concentration of sarcosine." [HPO:gcarletti] comment: Sarcosine is the N-methyl derivative of glycine. -synonym: "High plasma sarcosine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High plasma sarcosine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C537236 xref: SNOMEDCT_US:64852002 xref: UMLS:C0268563 @@ -80939,7 +81081,7 @@ creation_date: 2010-11-30T05:38:24Z id: HP:0010897 name: Hypersarcosinuria def: "An elevated urinary concentration of sarcosine." [HPO:gcarletti] -synonym: "High urine sarcosine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine sarcosine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023669 is_a: HP:0010898 ! Abnormality of sarcosine metabolism created_by: peter @@ -81014,15 +81156,13 @@ id: HP:0010905 name: obsolete Abnormality of histidine metabolism is_obsolete: true replaced_by: HP:0010904 -created_by: peter -creation_date: 2010-12-08T07:15:34Z [Term] id: HP:0010906 name: Hyperhistidinemia def: "An increased concentration of histidine in the blood." [HPO:gcarletti] comment: Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter. -synonym: "High blood histidine level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood histidine level" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Histidinemia" EXACT [] xref: MSH:C538320 xref: SNOMEDCT_US:124628005 @@ -81063,7 +81203,7 @@ creation_date: 2010-12-08T08:25:05Z id: HP:0010910 name: Hypervalinemia def: "An increased concentration of valine in the blood." [HPO:gcarletti] -synonym: "High blood valine concentration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood valine concentration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C536524 xref: SNOMEDCT_US:47719001 xref: UMLS:C0268573 @@ -81076,7 +81216,7 @@ id: HP:0010911 name: Hyperleucinemia def: "An increased concentration of leucine in the blood." [HPO:gcarletti] comment: Normal leucine blood levels are around 120-160 micromole per liter. -synonym: "High blood leucine concentration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood leucine concentration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:24013007 xref: UMLS:C0268576 is_a: HP:0004357 ! Abnormality of leucine metabolism @@ -81097,7 +81237,7 @@ id: HP:0010913 name: Hyperisoleucinemia def: "An increased concentration of isoleucine in the blood." [HPO:gcarletti] comment: Normal isoleucine blood levels are around 60-80 micromole per liter. -synonym: "High blood isoleucine concentration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood isoleucine concentration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023657 is_a: HP:0010912 ! Abnormality of isoleucine metabolism created_by: peter @@ -81337,13 +81477,13 @@ id: HP:0010937 name: Abnormality of the nasal skeleton def: "An abnormality of the nasal skeleton." [HPO:probinson] synonym: "Abnormality of the nasal skeleton" EXACT layperson [] -synonym: "Anomaly of the nasal skeleton" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the bones of the nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasal skeleton" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Distortion of the bones of the nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Distortion of the nasal skeleton" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the bones of the nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasal skeleton" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the nasal skeleton" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Distortion of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Distortion of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023639 xref: UMLS:C4280361 is_a: HP:0000366 ! Abnormality of the nose @@ -81356,9 +81496,9 @@ id: HP:0010938 name: Abnormality of the external nose def: "An abnormality of the external nose." [HPO:probinson] synonym: "Abnormality of the external nose" EXACT layperson [] -synonym: "Anomaly of the external nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the external nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the external nose" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the external nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the external nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the external nose" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2164724 xref: UMLS:C4023638 xref: UMLS:C4280360 @@ -81371,9 +81511,9 @@ id: HP:0010939 name: Abnormality of the nasal bone def: "An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone." [HPO:probinson] synonym: "Abnormality of the nasal bone" EXACT layperson [] -synonym: "Anomaly of the nasal bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasal bones" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasal bones" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the nasal bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasal bones" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasal bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023637 is_a: HP:0010937 ! Abnormality of the nasal skeleton created_by: peter @@ -81392,11 +81532,11 @@ creation_date: 2011-01-16T02:31:16Z id: HP:0010941 name: Aplasia of the nasal bone def: "Absence of the nasal bone." [HPO:probinson] -synonym: "Absence of the nasal bone" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of the nasal bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of the nasal bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Lack of development of the nasal bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing nasal bone" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of the nasal bone" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of the nasal bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of the nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Lack of development of the nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing nasal bone" NARROW layperson [ORCID:0000-0001-5889-4463] xref: MSH:C562753 xref: SNOMEDCT_US:91900007 xref: UMLS:C0339850 @@ -81542,8 +81682,8 @@ id: HP:0010954 name: Hypoplastic right heart def: "Underdevelopment of the right-sided structures of the heart." [HPO:probinson] comment: Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill. -synonym: "Hypoplastic right heart syndrome" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Underdeveloped right heart" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Hypoplastic right heart syndrome" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Underdeveloped right heart" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:268180007 xref: SNOMEDCT_US:39589002 xref: UMLS:C0265856 @@ -81834,7 +81974,7 @@ creation_date: 2011-02-07T10:56:30Z id: HP:0010981 name: Hypolipoproteinemia def: "An abnormal decrease in the level of lipoprotein cholesterol in the blood." [HPO:proteinemia] -synonym: "Lack of fat in blood" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Lack of fat in blood" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007009 xref: SNOMEDCT_US:267436001 xref: SNOMEDCT_US:363140000 @@ -81957,8 +82097,8 @@ id: HP:0010994 name: Abnormality of the striatum def: "Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens." [HPO:probinson, PMID:21469956] comment: The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei. -synonym: "Abnormality of the neostriatum" EXACT [http://orcid.org/0000-0001-6908-9849] -synonym: "Abnormality of the striate nucleus" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Abnormality of the neostriatum" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Abnormality of the striate nucleus" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023607 is_a: HP:0002134 ! Abnormality of the basal ganglia created_by: peter @@ -82009,7 +82149,7 @@ creation_date: 2011-02-10T06:14:16Z id: HP:0010999 is_anonymous: true name: Aplasia of the optic tract -synonym: "Absent optic tract" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent optic tract" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023603 is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract created_by: sdoelken @@ -82018,8 +82158,8 @@ creation_date: 2011-02-13T11:28:03Z [Term] id: HP:0011000 name: Aplasia/Hypoplasia of the optic tract -synonym: "Absent/small optic tract" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent/underdeveloped optic tract" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small optic tract" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent/underdeveloped optic tract" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023602 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: sdoelken @@ -82068,9 +82208,9 @@ def: "A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] subset: hposlim_core synonym: "Severe myopia" EXACT [] synonym: "Severe myopia (> -6.00 diopters)" EXACT [] -synonym: "Severe near sightedness" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Severely close sighted" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Severely near sighted" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Severe near sightedness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Severely close sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Severely near sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:34187009 xref: UMLS:C0271183 is_a: HP:0000545 ! Myopia @@ -82087,6 +82227,7 @@ synonym: "Abnormal systemic artery morphology" EXACT [] synonym: "Abnormality of the systemic arterial tree" EXACT [] synonym: "Arterial abnormalities" RELATED [] synonym: "Systemic artery abnormality" EXACT [] +xref: Fyler:2600 xref: SNOMEDCT_US:234119001 xref: UMLS:C0151489 xref: UMLS:C4021205 @@ -82108,7 +82249,7 @@ creation_date: 2011-02-17T09:01:14Z id: HP:0011006 name: Abnormality of the musculature of the neck def: "An abnormality of the neck musculature." [HPO:probinson] -synonym: "Abnormality of cervical musculature" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of cervical musculature" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the musculature of the neck" EXACT layperson [] synonym: "Neck muscle issue" EXACT layperson [] xref: UMLS:C4023601 @@ -82123,7 +82264,7 @@ name: Temporal pattern def: "The speed at which disease manifestations appear and develop." [HPO:probinson] synonym: "Speed of onset" EXACT [] xref: UMLS:C4021204 -is_a: HP:0012823 ! Clinical modifier +is_a: HP:0031797 ! Clinical course created_by: peter creation_date: 2011-02-20T10:22:32Z @@ -82305,8 +82446,8 @@ creation_date: 2011-03-03T10:23:19Z id: HP:0011026 name: Aplasia/Hypoplasia of the vagina def: "Aplasia or developmental hypoplasia of the vagina." [HPO:probinson] -synonym: "Absent/small vagina" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped vagina" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small vagina" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped vagina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023586 is_a: HP:0000142 ! Abnormality of the vagina created_by: peter @@ -82337,7 +82478,7 @@ creation_date: 2011-03-03T10:25:21Z id: HP:0011029 name: Internal hemorrhage def: "The presence of hemorrhage within the body." [HPO:probinson] -synonym: "Internal bleeding" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Internal bleeding" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1390214 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation @@ -82367,7 +82508,7 @@ id: HP:0011032 name: Abnormality of fluid regulation def: "An abnormality of the regulation of body fluids." [HPO:probinson] synonym: "Abnormality of fluid regulation" EXACT layperson [] -synonym: "Fluid imbalance" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Fluid imbalance" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:1860003 xref: SNOMEDCT_US:190902006 xref: UMLS:C2364164 @@ -82389,7 +82530,7 @@ id: HP:0011034 name: Amyloidosis def: "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body." [HPO:probinson, pmid:21039326] comment: The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. -synonym: "Amyloid disease" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Amyloid disease" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D000686 xref: SNOMEDCT_US:17602002 xref: UMLS:C0002726 @@ -82461,8 +82602,8 @@ creation_date: 2011-03-07T07:54:11Z id: HP:0011041 name: Aplasia/Hypoplasia of the cervical spine def: "Aplasia or developmental hypoplasia of the cervical vertebral column." [HPO:probinson] -synonym: "Absent/small cervical spine" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped cervical spine" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small cervical spine" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped cervical spine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023576 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column @@ -82492,11 +82633,11 @@ creation_date: 2011-03-10T07:46:59Z id: HP:0011044 name: Abnormal number of permanent teeth def: "The presence of an altered number of of permanent teeth." [HPO:ibailleulforestier] -synonym: "Abnormal complement of permanent teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal complement of permanent teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal number of adult teeth" EXACT layperson [] synonym: "Abnormal number of permanent teeth" EXACT layperson [] synonym: "Abnormal number of secondary dentition" EXACT [] -synonym: "Abnormal permanent tooth count" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal permanent tooth count" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023573 is_a: HP:0006483 ! Abnormal number of teeth created_by: peter @@ -82507,15 +82648,15 @@ id: HP:0011045 name: Agenesis of permanent maxillary central incisor def: "Agenesis of upper secondary incisor." [HPO:ibailleulforestier] comment: This feature is to be distinguished from single central upper incisor, which is median. -synonym: "Absence of permanent maxillary central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of permanent upper central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of permanent upper front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of adult maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of permanent maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing adult upper central incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent maxillary central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent upper central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent upper front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of permanent maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of permanent upper central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of permanent upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of adult maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of permanent maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing adult upper central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent upper central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023572 xref: UMLS:C4280358 xref: UMLS:C4280359 @@ -82528,16 +82669,16 @@ id: HP:0011046 name: Agenesis of primary maxillary central incisor def: "Agenesis of upper central primary incisor." [HPO:ibailleulforestier] comment: This feature is to be distinguished from single central upper incisor, which is median. -synonym: "Absence of deciduous maxillary central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of primary maxillary central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of upper front baby tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of deciduous maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of deciduous maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of primary maxillary central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing deciduous maxillary central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing primary maxillary central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper front baby tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper front milk tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of deciduous maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of primary maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of upper front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of deciduous maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of deciduous maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of primary maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing deciduous maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing primary maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing upper front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing upper front milk tooth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023571 xref: UMLS:C4280357 is_a: HP:0006293 ! Agenesis of maxillary central incisor @@ -82548,18 +82689,18 @@ creation_date: 2011-03-10T11:21:41Z id: HP:0011047 name: Agenesis of primary mandibular central incisor def: "Agenesis of lower primary incisor." [HPO:ibailleulforestier] -synonym: "Absence of deciduous mandibular central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of primary mandibular central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of deciduous lower central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of primary lower central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of deciduous mandibular central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of primary mandibular central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing deciduous mandibular central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower central incisor milk tooth" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower front baby tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower front milk tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower front primary tooth" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing primary mandibular central incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of deciduous mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of primary mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of deciduous lower central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of primary lower central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of deciduous mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of primary mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing deciduous mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing lower central incisor milk tooth" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing lower front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing lower front milk tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing lower front primary tooth" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing primary mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023570 xref: UMLS:C4280355 xref: UMLS:C4280356 @@ -82571,15 +82712,15 @@ creation_date: 2011-03-10T11:14:55Z id: HP:0011048 name: Agenesis of permanent mandibular central incisor def: "Agenesis of lower secondary incisor." [HPO:ibailleulforestier] -synonym: "Absence of permanent lower central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of permanent lower front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of permanent mandibular central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of adult mandibular central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of permanent mandibular central incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing adult lower central incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent lower central incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent lower front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent mandibular central incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of permanent lower central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of permanent lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of permanent mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of adult mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of permanent mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing adult lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent lower central incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023569 xref: UMLS:C4280354 is_a: HP:0006355 ! Agenesis of mandibular central incisor @@ -82590,13 +82731,13 @@ creation_date: 2011-03-10T11:16:08Z id: HP:0011049 name: Agenesis of primary maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor." [HPO:ibailleulforestier] -synonym: "Absence of deciduous maxillary lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of primary maxillary lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of deciduous maxillary lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of deciduous maxillary lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of primary maxillary lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing deciduous maxillary lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing primary maxillary lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of deciduous maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of primary maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of deciduous maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of deciduous maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of primary maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing deciduous maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing primary maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023568 xref: UMLS:C4280353 is_a: HP:0000690 ! Agenesis of maxillary lateral incisor @@ -82607,12 +82748,12 @@ creation_date: 2011-03-10T11:31:10Z id: HP:0011050 name: Agenesis of permanent maxillary lateral incisor def: "Agenesis of one or more upper lateral secondary incisor." [HPO:ibailleulforestier] -synonym: "Absence of permanent maxillary lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of permanent upper lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of permanent maxillary lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of permanent upper lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent maxillary lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent upper lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of permanent maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of permanent upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of permanent maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of permanent upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent upper lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023567 xref: UMLS:C4280352 is_a: HP:0000690 ! Agenesis of maxillary lateral incisor @@ -82624,13 +82765,13 @@ id: HP:0011051 name: Agenesis of premolar def: "Agenesis of premolar tooth." [HPO:ibailleulforestier] comment: Note that premolar teeth occur only in the permanent dentition. -synonym: "Absence of bicuspid" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of premolar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of bicuspid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of bicuspid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of premolar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing bicuspid" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing premolar" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of bicuspid" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of premolar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of bicuspid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of bicuspid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of premolar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing bicuspid" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing premolar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023566 xref: UMLS:C4280351 is_a: HP:0001592 ! Selective tooth agenesis @@ -82643,15 +82784,15 @@ id: HP:0011052 name: Agenesis of maxillary premolar def: "Agenesis of maxillary premolar." [HPO:ibailleulforestier] comment: Note that premolar teeth occur only in the permanent dentition. -synonym: "Absence of maxillary bicuspid" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of maxillary premolar" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of upper premolar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of maxillary bicuspid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of maxillary bicuspid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of maxillary premolar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing maxillary premolar" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper bicuspid" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper premolar" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of maxillary bicuspid" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of maxillary premolar" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of upper premolar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of maxillary bicuspid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of maxillary bicuspid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of maxillary premolar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing maxillary premolar" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing upper bicuspid" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing upper premolar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023565 xref: UMLS:C4280350 is_a: HP:0011051 ! Agenesis of premolar @@ -82662,11 +82803,11 @@ creation_date: 2011-03-10T11:39:06Z id: HP:0011053 name: Agenesis of mandibular premolar def: "Agenesis of mandibular premolar." [HPO:ibailleulforestier] -synonym: "Absence of lower premolar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of mandibular premolar" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of mandibular premolar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower premolar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing mandibular premolar" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of lower premolar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of mandibular premolar" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of mandibular premolar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing lower premolar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing mandibular premolar" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023564 xref: UMLS:C4280349 is_a: HP:0011051 ! Agenesis of premolar @@ -82677,10 +82818,10 @@ creation_date: 2011-03-10T11:40:37Z id: HP:0011054 name: Agenesis of molar def: "Agenesis of molar tooth." [HPO:ibailleulforestier] -synonym: "Absence of molar" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of molar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absent molars" EXACT layperson [] -synonym: "Failure of development of molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing molar" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing molar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021203 xref: UMLS:C4280348 is_a: HP:0001592 ! Selective tooth agenesis @@ -82692,13 +82833,13 @@ creation_date: 2011-03-10T11:41:46Z id: HP:0011055 name: Agenesis of permanent molar def: "Agenesis of secondary molar tooth." [HPO:ibailleulforestier] -synonym: "Absence of adult molar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of permanent molar" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of secondary molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of permanent molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of secondary molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing adult molar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent molar" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of adult molar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of permanent molar" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of secondary molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of permanent molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of secondary molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing adult molar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent molar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023563 xref: UMLS:C4280347 is_a: HP:0011054 ! Agenesis of molar @@ -82709,13 +82850,13 @@ creation_date: 2011-03-10T11:44:27Z id: HP:0011056 name: Agenesis of first permanent molar tooth def: "Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both." [HPO:ibailleulforestier] -synonym: "Absence of first permanent molar" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of six year molar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of six year molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of first permanent molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of six year molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing first permanent molar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing six year molar" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of first permanent molar" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of six year molar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of six year molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of first permanent molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of six year molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing first permanent molar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing six year molar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023562 xref: UMLS:C4280346 is_a: HP:0011055 ! Agenesis of permanent molar @@ -82726,13 +82867,13 @@ creation_date: 2011-03-10T11:45:27Z id: HP:0011057 name: Agenesis of second permanent molar def: "Agenesis of either mandibular second permanent molar or maxillary second permanent molar." [HPO:ibailleulforestier] -synonym: "Absence of second permanent molar" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of twelve year molar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of twelve year molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of second permanent molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of twelve year molar" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing second permanent molar" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing twelve year molar" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of second permanent molar" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of twelve year molar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of twelve year molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of second permanent molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of twelve year molar" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing second permanent molar" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing twelve year molar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023561 xref: UMLS:C4280257 is_a: HP:0011055 ! Agenesis of permanent molar @@ -82743,9 +82884,9 @@ creation_date: 2011-03-10T11:47:58Z id: HP:0011058 name: Generalized periodontitis def: "A generalized form of periodontitis." [HPO:ibailleulforestier] -synonym: "Generalized gum disease" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Generalized periodontal disease" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Widespread gum disease" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Generalized gum disease" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Generalized periodontal disease" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Widespread gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023560 xref: UMLS:C4280345 is_a: HP:0000704 ! Periodontitis @@ -82756,9 +82897,9 @@ creation_date: 2011-03-10T12:23:22Z id: HP:0011059 name: Localized periodontitis def: "A localized form of periodontitis." [HPO:ibailleulforestier] -synonym: "Limited area of gum disease" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Localized gum disease" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Localized periodontal disease" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Limited area of gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Localized gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Localized periodontal disease" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023559 xref: UMLS:C4280344 is_a: HP:0000704 ! Periodontitis @@ -82770,7 +82911,7 @@ id: HP:0011060 name: Dentinogenesis imperfecta limited to primary teeth def: "Developmental dysplasia of dentin affecting only the primary dentition." [HPO:ibailleulforestier] synonym: "Dentin dysplasia" RELATED [] -synonym: "Dentinogenesis imperfecta of baby teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Dentinogenesis imperfecta of baby teeth" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D003805 xref: SNOMEDCT_US:109492001 xref: UMLS:C0011430 @@ -82783,8 +82924,8 @@ creation_date: 2011-03-11T12:26:32Z id: HP:0011061 name: Abnormality of dental structure def: "An abnormality of the structure or composition of the teeth." [HPO:ibailleulforestier] -synonym: "Abnormality of tooth part" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of tooth structure" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of tooth part" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of tooth structure" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023557 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter @@ -82794,11 +82935,11 @@ creation_date: 2011-03-10T01:44:04Z id: HP:0011062 name: Misalignment of incisors def: "Misaligned incisor." [HPO:ibailleulforestier] -synonym: "Abnormality of alignment of incisors" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of position of incisors" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Crooked front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Crooked incisors" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malposition of incisors" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of alignment of incisors" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of position of incisors" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked incisors" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Malposition of incisors" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Misalignment of incisors" EXACT layperson [] xref: UMLS:C4023556 xref: UMLS:C4280343 @@ -82811,7 +82952,7 @@ creation_date: 2011-03-10T01:57:43Z id: HP:0011063 name: Abnormality of incisor morphology def: "An abnormality of morphology of the incisor tooth." [HPO:ibailleulforestier] -synonym: "Abnormality of shape of incisor" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of shape of incisor" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023555 is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0006482 ! Abnormality of dental morphology @@ -82822,7 +82963,7 @@ creation_date: 2011-03-10T02:06:54Z id: HP:0011064 name: Abnormal number of incisors def: "The presence of an altered number of of the incisor teeth.." [HPO:ibailleulforestier] -synonym: "Abnormal number of front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal number of front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal number of incisors" EXACT layperson [] xref: UMLS:C4023554 is_a: HP:0000676 ! Abnormality of the incisor @@ -82838,14 +82979,14 @@ alt_id: HP:0006345 alt_id: HP:0011066 def: "An abnormal conical morphology of the incisor tooth." [HPO:ibailleulforestier] comment: Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are. -synonym: "Cone shaped front tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cone shaped front tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Conoid incisor" EXACT [] -synonym: "Peg shaped front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Peg shaped front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Peg shaped incisors" EXACT [] synonym: "Peg-shaped incisors" EXACT [] -synonym: "Pointed front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pointed front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Pointed incisor" RELATED [] -synonym: "Shark tooth incisor" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Shark tooth incisor" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856136 xref: UMLS:C4020759 xref: UMLS:C4280341 @@ -82861,10 +83002,10 @@ name: Mesiodens def: "The presence of a supernumerary tooth in the midline between the maxillary central incisors." [HPO:ibailleulforestier, pmid:18262485] comment: A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors. synonym: "Extra tooth" BROAD layperson [] -synonym: "Extra tooth in the midline" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Median supernumary tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Mesiodentes" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Midline supernumary tooth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Extra tooth in the midline" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Median supernumary tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Mesiodentes" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Midline supernumary tooth" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D014096 xref: SNOMEDCT_US:17802000 xref: SNOMEDCT_US:266414008 @@ -82898,17 +83039,17 @@ alt_id: HP:0000672 def: "The presence of a supernumerary, i.e., extra, tooth or teeth." [HPO:ibailleulforestier] comment: The most frequent supernumerary tooth is a mesiodens, which occurs between the two maxillary central incisors. Often it fails to erupt, but creates a large anterior diastema, and would not be detected on physical examination (requires X-ray evaluation). This designation excludes coexistence of primary and permanent dentition due to delayed loss of the former. Note that this term does not refer to the situation in which two rows of teeth are seen at the time of eruption of permanent dentition before exfoliation of primary teeth, which can be a normal finding. subset: hposlim_core -synonym: "Extra teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hyperdontia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Extra teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperdontia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased number of teeth" EXACT layperson [] -synonym: "Increased tooth count" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "More teeth than normal" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Supernumary dentition" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Supernumary teeth" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Increased tooth count" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "More teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Supernumary dentition" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Supernumary teeth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Supernumerary teeth" EXACT [] synonym: "Supernumerary tooth" EXACT [] -synonym: "Supplemental dentition" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Supplemental teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Supplemental dentition" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Supplemental teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D014096 xref: SNOMEDCT_US:266414008 xref: SNOMEDCT_US:367534004 @@ -82922,7 +83063,7 @@ creation_date: 2011-03-10T02:52:19Z id: HP:0011070 name: Abnormality of molar morphology def: "An abnormality of morphology of molar tooth." [HPO:ibailleulforestier] -synonym: "Abnormal shape of molar tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal shape of molar tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023553 is_a: HP:0006482 ! Abnormality of dental morphology is_a: HP:0011077 ! Abnormality of molar @@ -82933,8 +83074,8 @@ creation_date: 2011-03-10T03:45:51Z id: HP:0011071 name: Abnormality of permanent molar morphology def: "An abnormality of morphology of permanent molar." [HPO:ibailleulforestier] -synonym: "Abnormality of shape of adult molar" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of shape of permanent molar" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of shape of adult molar" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of shape of permanent molar" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023552 is_a: HP:0011070 ! Abnormality of molar morphology created_by: peter @@ -82943,13 +83084,13 @@ creation_date: 2011-03-10T03:48:43Z [Term] id: HP:0011072 name: Rootless teeth -synonym: "Absence of tooth root" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of tooth root" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of tooth root" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing tooth root" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of tooth root" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of tooth root" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of tooth root" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing tooth root" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Rootless teeth" EXACT layperson [] -synonym: "Teeth without roots" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tooth with dentin dysplasia type i" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Teeth without roots" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Tooth with dentin dysplasia type i" RELATED [ORCID:0000-0001-5889-4463] xref: MSH:C538215 xref: SNOMEDCT_US:109493006 xref: UMLS:C0399379 @@ -82963,9 +83104,9 @@ id: HP:0011073 name: Abnormality of dental color def: "A developmental defect of tooth color." [HPO:ibailleulforestier] synonym: "Abnormality of dental color" EXACT layperson [] -synonym: "Abnormality of dental shade" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of tooth color" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of tooth shade" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of dental shade" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of tooth color" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of tooth shade" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023551 is_a: HP:0011061 ! Abnormality of dental structure created_by: peter @@ -82975,8 +83116,8 @@ creation_date: 2011-03-10T05:20:03Z id: HP:0011074 name: Localized hypoplasia of dental enamel def: "A localized form of developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier] -synonym: "Localized dysplasia of tooth enamel" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Localized hypoplasia of tooth enamel" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Localized dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Localized hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023550 xref: UMLS:C4280339 is_a: HP:0006297 ! Hypoplasia of dental enamel @@ -82988,9 +83129,9 @@ id: HP:0011075 name: Green teeth def: "A green staining of teeth." [pmid:12686928] comment: Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis. -synonym: "Green colored teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Green colored teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Green teeth" EXACT layperson [] -synonym: "Green tooth shade" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Green tooth shade" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023549 is_a: HP:0011073 ! Abnormality of dental color created_by: peter @@ -83000,7 +83141,7 @@ creation_date: 2011-03-10T05:23:18Z id: HP:0011076 name: Abnormality of premolar def: "An abnormality of premolar tooth." [HPO:ibailleulforestier] -synonym: "Abnormality of bicuspid" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of bicuspid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of premolar" EXACT layperson [] xref: UMLS:C4023548 is_a: HP:0000164 ! Abnormality of the dentition @@ -83022,7 +83163,7 @@ id: HP:0011078 name: Abnormality of canine def: "An abnormality of canine tooth." [HPO:ibailleulforestier] synonym: "Abnormality of canine" EXACT layperson [] -synonym: "Abnormality of eye tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of eye tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023546 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter @@ -83033,7 +83174,7 @@ id: HP:0011079 name: Impacted tooth def: "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth)." [HPO:ibailleulforestier] subset: hposlim_core -synonym: "Buried tooth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Buried tooth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Impacted tooth" EXACT layperson [] synonym: "Retained tooth" EXACT [] xref: MSH:D014095 @@ -83049,9 +83190,9 @@ creation_date: 2011-03-11T10:18:55Z id: HP:0011080 name: Abnormality of premolar morphology def: "An abnormality of morphology of premolar tooth." [HPO:ibailleulforestier] -synonym: "Abnormality of bicuspid morphology" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of shape of bicuspid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of shape of premolar" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of bicuspid morphology" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of shape of bicuspid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of shape of premolar" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023545 is_a: HP:0006482 ! Abnormality of dental morphology is_a: HP:0011076 ! Abnormality of premolar @@ -83062,11 +83203,11 @@ creation_date: 2011-03-11T10:33:42Z id: HP:0011081 name: Incisor macrodontia def: "Increased size of the incisor tooth." [HPO:ibailleulforestier] -synonym: "Hyperplasia of incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of incisor" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of incisor" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of incisor" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large incisor" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of incisor" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Increased size of incisor" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of incisor" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Large incisor" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023544 xref: UMLS:C4280337 is_a: HP:0001572 ! Macrodontia @@ -83078,14 +83219,14 @@ creation_date: 2011-03-11T10:39:44Z id: HP:0011082 name: Conical primary incisor def: "An abnormal conical morphology of the primary incisor." [HPO:ibailleulforestier] -synonym: "Cone shaped front baby tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Conical deciduous incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Conoid primary incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Peg shaped front baby tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Peg shaped primary incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pointed front baby tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cone shaped front baby tooth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Conical deciduous incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Conoid primary incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Peg shaped front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Peg shaped primary incisor" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Pointed front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Pointed primary incisor" RELATED layperson [] -synonym: "Primary front shark tooth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Primary front shark tooth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023543 is_a: HP:0011065 ! Conical incisor created_by: peter @@ -83095,13 +83236,13 @@ creation_date: 2011-03-11T11:06:57Z id: HP:0011083 name: Conical maxillary incisor def: "An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both." [HPO:ibailleulforestier] -synonym: "Cone shaped maxillary incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Cone shaped upper front tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Conoid maxillary incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Peg shaped upper front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pointed maxillary incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Pointed upper front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Upper front shark tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cone shaped maxillary incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Cone shaped upper front tooth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Conoid maxillary incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Peg shaped upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Pointed maxillary incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Pointed upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Upper front shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023542 is_a: HP:0011065 ! Conical incisor created_by: peter @@ -83111,8 +83252,8 @@ creation_date: 2011-03-11T11:36:11Z id: HP:0011084 name: Hypocalcification of dental enamel def: "A form of hypomineralization of enamel characterized by reduced calcification." [pmid:18499550] -synonym: "Decreased enamel calcification" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Poorly calcified tooth enamel" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased enamel calcification" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Poorly calcified tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023541 is_a: HP:0006285 ! Hypomineralization of enamel created_by: peter @@ -83123,9 +83264,9 @@ id: HP:0011085 name: Hypomature dental enamel def: "A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color." [HPO:ibailleulforestier] comment: Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin. -synonym: "Immature tooth enamel" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Soft teeth" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Soft tooth enamel" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Immature tooth enamel" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Soft teeth" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Soft tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023540 xref: UMLS:C4280266 xref: UMLS:C4280336 @@ -83137,8 +83278,8 @@ creation_date: 2011-03-11T12:10:33Z id: HP:0011086 name: Dentinogenesis imperfecta of primary and permanent teeth def: "Developmental dysplasia of dentin or both the primary dentition and the permanent dentition." [HPO:ibailleulforestier] -synonym: "Dentinogenesis imperfecta of adult and baby teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Dentinogenesis imperfecta of both sets of teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Dentinogenesis imperfecta of adult and baby teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Dentinogenesis imperfecta of both sets of teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023539 is_a: HP:0000703 ! Dentinogenesis imperfecta created_by: peter @@ -83149,8 +83290,8 @@ id: HP:0011087 name: Talon cusp def: "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown)." [HPO:ibailleulforestier] subset: hposlim_core -synonym: "Dens evaginatus" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Extra cusp on inside of front tooth" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dens evaginatus" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Extra cusp on inside of front tooth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Talon cusps" EXACT [HPO:skoehler] xref: SNOMEDCT_US:234955005 xref: SNOMEDCT_US:63691004 @@ -83166,8 +83307,8 @@ id: HP:0011088 name: Dens in dente def: "An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth." [HPO:ibailleulforestier] comment: Dens in dente is Latin for tooth inside of tooth. -synonym: "Dens invaginatus" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Tooth within a tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Dens invaginatus" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Tooth within a tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003719 xref: SNOMEDCT_US:55197001 xref: UMLS:C0011320 @@ -83179,7 +83320,7 @@ creation_date: 2011-03-11T02:07:28Z id: HP:0011089 name: Double tooth def: "A dental anomaly characterized by the presence of a two fused teeth." [HPO:ibailleulforestier] -synonym: "Conjoined teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Conjoined teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Double tooth" EXACT layperson [] xref: MSH:D005671 xref: SNOMEDCT_US:1744008 @@ -83194,7 +83335,7 @@ name: Fused teeth def: "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch." [pmid:18167487] subset: hposlim_core synonym: "Fused teeth" EXACT layperson [] -synonym: "Fusion of teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fusion of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Joined teeth" EXACT layperson [] xref: MSH:D005671 xref: SNOMEDCT_US:1744008 @@ -83208,8 +83349,8 @@ id: HP:0011091 name: Gemination def: "The development of two teeth from a single tooth bud, leading to a larger fused tooth." [pmid:18167487] comment: If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal. -synonym: "Gemination of tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Splitting of crown of tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Gemination of tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Splitting of crown of tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:40273006 xref: UMLS:C0266033 is_a: HP:0011089 ! Double tooth @@ -83220,7 +83361,7 @@ creation_date: 2011-03-11T02:19:11Z id: HP:0011092 name: Mulberry molar def: "Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry." [HPO:19179952] -synonym: "Syphilitic permanent first molar" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Syphilitic permanent first molar" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109436001 xref: UMLS:C0266024 is_a: HP:0011070 ! Abnormality of molar morphology @@ -83231,11 +83372,11 @@ creation_date: 2011-03-11T02:25:56Z id: HP:0011093 name: Molarization of premolar def: "Increased size and molar morphology of premolar tooth." [HPO:ibailleulforestier, pmid:15587104] -synonym: "Enlarged premolar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of premolar" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Molar shape of bicuspid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Molar shape of premolar" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Molarization of bicuspid" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Enlarged premolar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased size of premolar" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Molar shape of bicuspid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Molar shape of premolar" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Molarization of bicuspid" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1404304 xref: UMLS:C4280334 is_a: HP:0011080 ! Abnormality of premolar morphology @@ -83246,11 +83387,11 @@ creation_date: 2011-03-11T02:32:39Z id: HP:0011094 name: Overbite def: "Maxillary teeth cover the mandibular teeth when biting to an increased degree." [HPO:ibailleulforestier] -synonym: "Deep bite" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deep overbite" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased overlap of upper and lower incisors" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Deep bite" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deep overbite" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased overlap of upper and lower incisors" EXACT [ORCID:0000-0001-5889-4463] synonym: "Overbite" EXACT layperson [] -synonym: "Scissors bite" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Scissors bite" NARROW layperson [ORCID:0000-0001-5889-4463] xref: MSH:D057887 xref: SNOMEDCT_US:10816007 xref: SNOMEDCT_US:251293001 @@ -83267,11 +83408,11 @@ creation_date: 2011-03-11T05:13:34Z id: HP:0011095 name: Overjet def: "An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure." [HPO:ibailleulforestier] -synonym: "Abnormality of horizontal incisor relationship" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Buck teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Protrusion of the maxillary incisors" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Protrusion of upper teeth in front of lower teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Upper teeth sticking out forward" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of horizontal incisor relationship" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Buck teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Protrusion of the maxillary incisors" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Protrusion of upper teeth in front of lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Upper teeth sticking out forward" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D057887 xref: SNOMEDCT_US:251292006 xref: SNOMEDCT_US:70305005 @@ -83346,7 +83487,7 @@ def: "An abnormal closure, or atresia of the tubular structure of the intestine. comment: Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen. xref: MSH:D007409 xref: UMLS:C0021828 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0002589 ! Gastrointestinal atresia created_by: peter creation_date: 2011-06-04T09:16:25Z @@ -83368,7 +83509,7 @@ name: Abnormality of the left ventricular outflow tract def: "An abnormality of the outflow tract of the left ventricle." [HPO:probinson] xref: SNOMEDCT_US:253545000 xref: UMLS:C0344916 -is_a: HP:0001711 ! Abnormal morphology of the left ventricle +is_a: HP:0001711 ! Abnormal left ventricle morphology created_by: peter creation_date: 2011-06-05T04:15:50Z @@ -83385,7 +83526,7 @@ creation_date: 2011-06-07T11:16:33Z id: HP:0011105 name: Hypervolemia def: "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] -synonym: "Fluid overload in blood" EXACT layperson [http://orcid.org/0000-0001-5208-3432, https://en.wikipedia.org/wiki/hypervolemia] +synonym: "Fluid overload in blood" EXACT layperson [https://en.wikipedia.org/wiki/hypervolemia, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:21639008 xref: UMLS:C0546817 is_a: HP:0011104 ! Abnormality of blood volume homeostasis @@ -83396,7 +83537,7 @@ creation_date: 2011-06-07T11:17:32Z id: HP:0011106 name: Hypovolemia def: "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] -synonym: "Depleted blood volume" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Depleted blood volume" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020896 xref: SNOMEDCT_US:28560003 xref: UMLS:C0546884 @@ -83429,7 +83570,7 @@ id: HP:0011108 name: Recurrent sinusitis def: "A recurrent form of sinusitis." [HPO:probinson] comment: Recurring inflammation of the paranasal sinuses. -synonym: "Recurrent sinus disease" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Recurrent sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Sinusitis, recurrent" EXACT [HPO:skoehler] xref: SNOMEDCT_US:195788001 xref: UMLS:C0581354 @@ -83443,7 +83584,7 @@ creation_date: 2011-06-10T07:31:22Z id: HP:0011109 name: Chronic sinusitis def: "A chronic form of sinusitis." [HPO:probinson] -synonym: "Chronic sinus disease" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Chronic sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Sinusitis, chronic" RELATED [HPO:skoehler] xref: SNOMEDCT_US:40055000 xref: UMLS:C0149516 @@ -83456,7 +83597,7 @@ creation_date: 2011-06-10T07:33:14Z id: HP:0011110 name: Tonsillitis def: "An inflammation of the tonsils." [HPO:probinson] -synonym: "Inflammation of tonsils" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of tonsils" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014069 xref: SNOMEDCT_US:90176007 xref: UMLS:C0040425 @@ -83533,8 +83674,8 @@ creation_date: 2011-06-12T09:16:10Z id: HP:0011118 name: Abnormality of tumor necrosis factor secretion def: "An abnormality in the production or cellular release of tumor necrosis factor." [] -synonym: "Abnormality of cachectin secretion" EXACT [http://orcid.org/0000-0001-6908-9849, https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha] -synonym: "Abnormality of cachexin secretion" EXACT [http://orcid.org/0000-0001-6908-9849, https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha] +synonym: "Abnormality of cachectin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, ORCID:0000-0001-6908-9849] +synonym: "Abnormality of cachexin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, ORCID:0000-0001-6908-9849] xref: MP:0008556 xref: UMLS:C4023529 is_a: HP:0011113 ! Abnormality of cytokine secretion @@ -83546,18 +83687,18 @@ id: HP:0011119 name: Abnormality of the nasal dorsum def: "An abnormality of the nasal dorsum, also known as the nasal ridge." [HPO:probinson, pmid:19152422] comment: The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip. -synonym: "Abnormality of the dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the nasal ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the nasal ridge" EXACT [] -synonym: "Crooked dorsum of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Crooked nasal dorsum" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Crooked nasal ridge" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the dorsum of the nose" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasal dorsum" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the nasal ridge" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the dorsum of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasal dorsum" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the nasal ridge" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Crooked dorsum of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked nasal dorsum" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the dorsum of the nose" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasal dorsum" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the dorsum of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasal dorsum" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021202 xref: UMLS:C4280332 is_a: HP:0010938 ! Abnormality of the external nose @@ -83570,13 +83711,13 @@ name: Concave nasal ridge def: "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip." [HPO:probinson, pmid:19152422] comment: A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. subset: hposlim_core -synonym: "Boxer's nasal deformity" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Boxer's nose deformity" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Concave dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Concave nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Boxer's nasal deformity" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Boxer's nose deformity" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Concave dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Concave nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Saddle nose" EXACT layperson [] synonym: "Saddle nose deformity" RELATED layperson [HPO:skoehler] -synonym: "Saddle shaped nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Saddle shaped nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Ski jump nose" EXACT layperson [] xref: SNOMEDCT_US:710234009 xref: UMLS:C0264169 @@ -83588,8 +83729,9 @@ creation_date: 2011-06-12T09:39:55Z id: HP:0011121 name: Abnormality of skin morphology def: "Any morphological abnormality of the skin." [HPO:probinson] -synonym: "Abnormal skin morphology" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Abnormal skin structure" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal skin morphology" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Abnormal skin structure" EXACT layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:4133 xref: UMLS:C4023528 is_a: HP:0000951 ! Abnormality of the skin created_by: peter @@ -83649,8 +83791,8 @@ id: HP:0011126 name: Nephroptosis def: "A significant descent of the kidney as the patient moves from the supine to the erect position." [HPO:probinson, pmid:18990154] comment: Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery. -synonym: "Floating kidney" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Renal ptosis" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Floating kidney" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Renal ptosis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1384594 is_a: HP:0100542 ! Abnormal localization of kidney created_by: peter @@ -83661,7 +83803,7 @@ id: HP:0011127 name: Perioral eczema def: "A type of eczema that occurs in the lips and perioral area." [HPO:probinson] comment: Perioral eczema mainly affects children. -synonym: "Eczema around the mouth" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Eczema around the mouth" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1396126 is_a: HP:0000964 ! Eczema created_by: peter @@ -83719,7 +83861,7 @@ id: HP:0011133 name: Increased sensitivity to ionizing radiation def: "An abnormally increased sensitivity to the effects of ionizing radiation." [HPO:probinson] comment: Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. -synonym: "Increased sensitivity to ionising radiation" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Increased sensitivity to ionising radiation" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4021850 is_a: HP:0011017 ! Abnormality of cell physiology created_by: peter @@ -83730,7 +83872,7 @@ id: HP:0011134 name: Low-grade fever def: "Mild fever that does not exceed 38.5 degree centrigrade." [HPO:probinson] synonym: "Low-grade fever" EXACT layperson [] -synonym: "Mild fever" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Mild fever" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:304213008 xref: UMLS:C0239574 is_a: HP:0001945 ! Fever @@ -83741,8 +83883,8 @@ creation_date: 2011-06-19T12:19:44Z id: HP:0011135 name: Aplasia/Hypoplasia of the sweat glands def: "Absence or developmental hypoplasia of the sweat glands." [HPO:probinson] -synonym: "Absent/small sweat glands" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped sweat glands" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023520 is_a: HP:0000971 ! Abnormality of the sweat gland created_by: peter @@ -83764,7 +83906,7 @@ id: HP:0011137 name: Non-pruritic urticaria def: "Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus." [HPO:probinson] comment: Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus. -synonym: "Non-itchy hives" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Non-itchy hives" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4023519 is_a: HP:0011276 ! Vascular skin abnormality created_by: peter @@ -83774,7 +83916,7 @@ creation_date: 2011-06-19T02:17:55Z id: HP:0011138 name: Abnormality of skin adnexa morphology def: "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [HPO:probinson] -synonym: "Abnormal skin appendage" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal skin appendage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023518 is_a: HP:0001574 ! Abnormality of the integument created_by: peter @@ -83922,7 +84064,7 @@ creation_date: 2011-10-18T02:09:55Z id: HP:0011152 name: Early onset absence seizures def: "Typical absence seizures starting before the age of 4 years." [HPO:ihelbig] -synonym: "Early onset petit mal seizures" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Early onset petit mal seizures" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023510 is_a: HP:0011147 ! Typical absence seizures created_by: peter @@ -83933,8 +84075,8 @@ id: HP:0011153 name: Focal motor seizures def: "Focal seizures involving musculature in any form." [HPO:jalbers] comment: The motor event can consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. -synonym: "Localized motor seizures" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Partial motor seizures" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Localized motor seizures" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Partial motor seizures" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D020938 xref: SNOMEDCT_US:128612007 xref: SNOMEDCT_US:82401000 @@ -83956,8 +84098,8 @@ creation_date: 2011-10-18T02:23:31Z id: HP:0011155 name: Focal autonomic seizures with altered responsiveness def: "An autonomic seizure with altered responsiveness." [HPO:jalbers] -synonym: "Localized autonomic seizures with altered responsiveness" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Partial autonomic seizures with altered responsiveness" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Localized autonomic seizures with altered responsiveness" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Partial autonomic seizures with altered responsiveness" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023508 is_a: HP:0011154 ! Focal autonomic seizures created_by: peter @@ -83967,8 +84109,8 @@ creation_date: 2011-10-18T02:24:09Z id: HP:0011156 name: Focal autonomic seizures without altered responsiveness def: "An autonomic seizure without altered responsiveness." [HPO:jalbers] -synonym: "Localized autonomic seizures without altered responsiveness" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Partial autonomic seizures without altered responsiveness" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Localized autonomic seizures without altered responsiveness" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Partial autonomic seizures without altered responsiveness" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023507 is_a: HP:0011154 ! Focal autonomic seizures created_by: peter @@ -83989,7 +84131,7 @@ creation_date: 2011-10-18T02:26:40Z id: HP:0011158 name: Auditory auras def: "Auras with sensations of buzzing, drumming sounds or single tones." [HPO:jalbers] -synonym: "Auras associated with hearing" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Auras associated with hearing" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1838063 is_a: HP:0011157 ! Auras created_by: peter @@ -83999,8 +84141,8 @@ creation_date: 2011-10-18T02:26:59Z id: HP:0011159 name: Epigastric auras def: "Auras with abdominal discomfort including nausea, emptiness, tightness, churning, butterflies, malaise, pain, and hunger; sensation may rise to chest or throat. Some phenomena may reflect ictal autonomic dysfunction." [HPO:jalbers] -synonym: "Abdominal aura" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Visceral aura" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Abdominal aura" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Visceral aura" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023506 is_a: HP:0011157 ! Auras created_by: peter @@ -84010,7 +84152,7 @@ creation_date: 2011-10-18T02:27:58Z id: HP:0011160 name: Gustatory auras def: "Auras with taste sensations including acidic, bitter, salty , sweet or metallic tastes." [HPO:jalbers] -synonym: "Taste hallucinations" EXACT layperson [http://medical-dictionary.thefreedictionary.com/gustatory+aura, orcid.org/0000-0001-5208-3432] +synonym: "Taste hallucinations" EXACT layperson [http://medical-dictionary.thefreedictionary.com/gustatory+aura, ORCID:0000-0001-5208-3432] xref: MSH:D006212 xref: SNOMEDCT_US:29139005 xref: UMLS:C0233766 @@ -84070,8 +84212,8 @@ creation_date: 2011-10-18T02:31:15Z [Term] id: HP:0011166 name: Focal myoclonic seizures -synonym: "Local myoclonic seizures" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Partial myoclonic seizures" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Local myoclonic seizures" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Partial myoclonic seizures" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023501 is_a: HP:0011153 ! Focal motor seizures created_by: peter @@ -84081,8 +84223,8 @@ creation_date: 2011-10-18T02:34:14Z id: HP:0011167 name: Focal tonic seizures def: "Seizures with sustained increase in muscle contraction in parts of the body lasting a few seconds to minutes." [HPO:jalbers] -synonym: "Local tonic seizures" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Partial tonic seizures" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Local tonic seizures" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Partial tonic seizures" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D020938 xref: UMLS:C0752324 is_a: HP:0011153 ! Focal motor seizures @@ -84122,8 +84264,8 @@ creation_date: 2011-11-19T10:00:46Z id: HP:0011171 name: Simple febrile seizures def: "Febrile seizures with generalized tonic-clonic semiology, duration less than 15 minutes, and without recurrence within the next 24 hours." [HPO:jalbers] -synonym: "Simple febrile convulsion" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, orcid.org/0000-0001-5208-3432] -synonym: "Simple fever fit" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, orcid.org/0000-0001-5208-3432] +synonym: "Simple febrile convulsion" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432] +synonym: "Simple fever fit" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432] xref: MSH:D003294 xref: SNOMEDCT_US:432354000 xref: UMLS:C0149886 @@ -84206,7 +84348,7 @@ id: HP:0011179 name: Beta-EEG def: "EEG dominated by diffuse beta-waves (>13 Hz)." [HPO:jalbers] comment: Beta-EEG is a rare finding but not generally pathologic. -synonym: "Beta wave electroencephalography" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Beta wave electroencephalography" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023493 is_a: HP:0011176 ! EEG with constitutional variants is_a: HP:0011202 ! EEG with diffuse acceleration @@ -84550,11 +84692,11 @@ creation_date: 2011-11-29T07:42:18Z id: HP:0011217 name: Abnormal shape of the occiput def: "An abnormal shape of occiput." [HPO:probinson] -synonym: "Abnormal shape of posterior cranium" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal shape of posterior head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal shape of posterior skull" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal shape of the back of the head" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal shape of the back of the skull" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal shape of posterior cranium" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormal shape of posterior head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormal shape of posterior skull" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormal shape of the back of the head" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormal shape of the back of the skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023459 is_a: HP:0002648 ! Abnormality of calvarial morphology created_by: peter @@ -84564,10 +84706,10 @@ creation_date: 2011-12-03T10:14:06Z id: HP:0011218 name: Abnormal shape of the frontal region def: "An abnormal shape of the frontal part of the head." [HPO:probinson] -synonym: "Abnormal morphology of the frontal region" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal shape of the forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Dysmorphic forehead" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Dysmorphic frontal region" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal morphology of the frontal region" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormal shape of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Dysmorphic forehead" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Dysmorphic frontal region" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023458 is_a: HP:0002648 ! Abnormality of calvarial morphology created_by: peter @@ -84579,17 +84721,17 @@ name: Short face def: "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)." [pmid:19125436] comment: Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face. subset: hposlim_core -synonym: "Decreased height of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased length of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased vertical dimension of face" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased length of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased vertical dimension of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short face" EXACT layperson [] -synonym: "Short facies" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical deficiency of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical Facial Deficiency" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical facial insufficiency" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical hypoplasia of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical insufficiency of face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical shortening of face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Short facies" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical deficiency of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical Facial Deficiency" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical facial insufficiency" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical insufficiency of face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical shortening of face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023457 is_a: HP:0000274 ! Small face created_by: peter @@ -84603,9 +84745,9 @@ def: "Forward prominence of the entire forehead, due to protrusion of the fronta comment: Not to be confused with frontal bossing. subset: hposlim_core synonym: "Bulging forehead" RELATED layperson [] -synonym: "Prominence of frontal region" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Prominence of frontal region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent forehead" EXACT layperson [] -synonym: "Pronounced forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pronounced forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding forehead" EXACT layperson [] xref: UMLS:C1837260 xref: UMLS:C1867446 @@ -84618,7 +84760,7 @@ id: HP:0011221 name: Vertical forehead creases def: "Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest." [pmid:19125436] subset: hposlim_core -synonym: "Frontal creases of face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Frontal creases of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Vertical forehead creases" EXACT layperson [] synonym: "Vertical forehead rhytids" EXACT [] synonym: "Vertical forehead wrinkles" EXACT layperson [] @@ -84634,8 +84776,8 @@ def: "Posterior positioning of the glabella, i.e., of the midline forehead betwe comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. synonym: "Concave glabella" EXACT [] synonym: "Deficiency of glabella" EXACT [] -synonym: "Deficient area between the eyebrows" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flat area between the eyebrows" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Deficient area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Flat area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat glabella" EXACT [] synonym: "Hypoplasia of glabella" EXACT [] xref: UMLS:C4023455 @@ -84648,9 +84790,9 @@ id: HP:0011223 name: Metopic depression def: "Linear vertical groove in the midline of the forehead, extending from hairline to glabella." [pmid:19125436] subset: hposlim_core -synonym: "Depression of frontal cranial suture" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Depression of metopic cranial suture" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Frontal suture depression" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Depression of frontal cranial suture" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Depression of metopic cranial suture" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Frontal suture depression" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023454 is_a: HP:0005556 ! Abnormality of the metopic suture created_by: peter @@ -84665,9 +84807,9 @@ comment: In ablepharon, the globe is continuously exposed. It is arguable whethe subset: hposlim_core synonym: "Ablepharon of eyelid" EXACT [] synonym: "Absent eyelids" EXACT layperson [] -synonym: "Agenesis of eyelids" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of eyelids" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia of the eyelids" RELATED [] -synonym: "Missing eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Missing eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:13401001 xref: SNOMEDCT_US:708541009 xref: UMLS:C0266574 @@ -84692,8 +84834,8 @@ creation_date: 2011-12-13T08:28:48Z id: HP:0011226 name: Aplasia/Hypoplasia of the eyelid def: "Absence or underdevelopment of the eyelid." [HPO:probinson] -synonym: "Failure of development of eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic eyelid" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic eyelid" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023453 is_a: HP:0000492 ! Abnormal eyelid morphology created_by: peter @@ -84716,10 +84858,10 @@ id: HP:0011228 name: Horizontal eyebrow def: "An eyebrow that extends straight across the brow, without curve." [pmid:19125427] subset: hposlim_core -synonym: "Flat eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Flat eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Horizontal eyebrow" EXACT layperson [] -synonym: "Lack of eyebrow arch" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Lack of eyebrow curvature" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lack of eyebrow arch" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Lack of eyebrow curvature" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Straight eyebrow" EXACT layperson [] synonym: "Straight eyebrows" RELATED layperson [HPO:skoehler] xref: UMLS:C3277019 @@ -84737,9 +84879,9 @@ synonym: "Broad eyebrow" EXACT layperson [] synonym: "Broad eyebrows" EXACT layperson [HPO:skoehler] synonym: "Flared eyebrow" EXACT layperson [] synonym: "Flared eyebrows" RELATED layperson [HPO:skoehler] -synonym: "Increased vertical height of eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased vertical thickness of eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased vertical width of eyebrow" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased vertical height of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased vertical thickness of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased vertical width of eyebrow" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856121 is_a: HP:0000534 ! Abnormal eyebrow morphology created_by: peter @@ -84750,8 +84892,8 @@ id: HP:0011230 name: Laterally extended eyebrow def: "An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location." [pmid:19125427] comment: The degree of extension beyond the obital rim that is considered abnormal has not been established. -synonym: "Increased lateral length of eyebrow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Laterally elongated eyebrow" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Increased lateral length of eyebrow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Laterally elongated eyebrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Laterally extended eyebrows" EXACT layperson [] xref: UMLS:C4023451 is_a: HP:0000534 ! Abnormal eyebrow morphology @@ -84763,7 +84905,7 @@ id: HP:0011231 name: Prominent eyelashes def: "Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly." [pmid:19125427] synonym: "Prominent eyelashes" EXACT layperson [] -synonym: "Thick eyelashes" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thick eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1835802 xref: UMLS:C4023450 is_a: HP:0000499 ! Abnormality of the eyelashes @@ -84994,8 +85136,8 @@ name: Cryptotia def: "Invagination of the superior part of the auricle under a fold of temporal skin." [pmid:19152421] comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected. subset: hposlim_core -synonym: "Buried ear" EXACT layperson [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Hidden ear" EXACT layperson [HPO:orcid.org/0000-0001-5889-4463] +synonym: "Buried ear" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hidden ear" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:429967001 xref: UMLS:C2315717 is_a: HP:0000377 ! Abnormality of the pinna @@ -85154,7 +85296,7 @@ id: HP:0011267 name: Microtia, third degree def: "Presence of some auricular structures, but none of these structures conform to recognized ear components." [pmid:19152421] comment: This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia. -synonym: "Abnormal shape/structure of ear" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal shape/structure of ear" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Third-degree microtia" EXACT [] xref: UMLS:C4021174 xref: UMLS:C4280331 @@ -85226,7 +85368,7 @@ creation_date: 2011-12-18T08:01:33Z id: HP:0011273 name: Anisocytosis def: "Abnormally increased variability in the size of erythrocytes." [HPO:probinson] -synonym: "Unequal size of red blood cells" EXACT layperson [https://en.wikipedia.org/wiki/anisocytosis, orcid.org/0000-0001-5208-3432] +synonym: "Unequal size of red blood cells" EXACT layperson [https://en.wikipedia.org/wiki/anisocytosis, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:165475005 xref: SNOMEDCT_US:57241006 xref: UMLS:C0221278 @@ -85320,7 +85462,7 @@ id: HP:0011282 name: Abnormality of hindbrain morphology def: "An abnormality of the hindbrain, also known as the rhombencephalon." [HPO:probinson] comment: The hindbrain consists of two main structures: The pons and the cerebellum. -synonym: "Abnormal shape of hindbrain" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of hindbrain" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the hindbrain" EXACT [] xref: UMLS:C4021170 is_a: HP:0012443 ! Abnormality of brain morphology @@ -85614,7 +85756,7 @@ id: HP:0011310 name: Bridged palmar crease def: "A crease that connects the proximal and distal transverse palmar creases." [pmid:19125433] comment: The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation. -synonym: "Bridged palm line" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bridged palm line" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Transitional palmar crease" EXACT [] xref: UMLS:C4021166 is_a: HP:0010490 ! Abnormality of the palmar creases @@ -85660,7 +85802,7 @@ alt_id: HP:0100713 alt_id: HP:0100714 alt_id: HP:0100715 def: "An abnormality of size or shape of the long bones." [HPO:probinson] -synonym: "Abnormal shape of long bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the tubular bones" EXACT [] xref: UMLS:C4021165 is_a: HP:0011844 ! Abnormal appendicular skeleton morphology @@ -85672,8 +85814,8 @@ id: HP:0011315 name: Unicoronal synostosis def: "Synostosis affecting only one of the coronal sutures." [DDD:awilkie] synonym: "Unilateral coronal craniosynostosis" RELATED [] -synonym: "Unilateral coronal suture craniosynostosis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral coronal suture synostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Unilateral coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Unilateral coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4020756 xref: UMLS:C4023418 is_a: HP:0004440 ! Coronal craniosynostosis @@ -85703,9 +85845,9 @@ id: HP:0011318 name: Bicoronal synostosis def: "Synostosis affecting the right and the left coronal suture." [DDD:awilkie] subset: hposlim_core -synonym: "Bilateral coronal craniosynostosis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Bilateral coronal suture craniosynostosis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Bilateral coronal suture synostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Bilateral coronal craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Bilateral coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Bilateral coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021164 is_a: HP:0004440 ! Coronal craniosynostosis created_by: peter @@ -85716,7 +85858,7 @@ id: HP:0011319 name: Bilambdoid synostosis def: "Premature synostosis of both lambdoid sutures." [DDD:awilkie] subset: hposlim_core -synonym: "Bilateral lambdoid craniosynostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Bilateral lambdoid craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Bilateral lambdoid suture synostosis" EXACT [] xref: UMLS:C4021163 is_a: HP:0004443 ! Lambdoidal craniosynostosis @@ -85728,7 +85870,7 @@ id: HP:0011320 name: Unilambdoid synostosis def: "Premature synostosis of only one lambdoid suture." [DDD:awilkie] subset: hposlim_core -synonym: "Unilateral lambdoid craniosynostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Unilateral lambdoid craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unilateral lambdoid suture synostosis" EXACT [] xref: UMLS:C4021162 is_a: HP:0004443 ! Lambdoidal craniosynostosis @@ -85758,7 +85900,7 @@ id: HP:0011323 name: Cleft of chin def: "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin." [DDD:jclayton-smith] synonym: "Cleft of chin" EXACT layperson [] -synonym: "Midline defect of chin" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Midline defect of chin" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849227 is_a: HP:0000306 ! Abnormality of the chin created_by: peter @@ -85779,7 +85921,7 @@ creation_date: 2012-02-25T01:16:13Z id: HP:0011325 name: Pansynostosis def: "Craniosynostosis of all calvarial sutures." [DDD:awilkie] -synonym: "Sysnostosis of all cranial sutures" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Sysnostosis of all cranial sutures" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021827 is_a: HP:0011324 ! Multiple suture craniosynostosis created_by: peter @@ -85790,14 +85932,14 @@ id: HP:0011326 name: Anterior plagiocephaly def: "Asymmetry of the anterior part of the skull." [DDD:awilkie] comment: Anterior plagiocephaly may have synostotic or non-synostotic causes. -synonym: "Anterior flat head syndrome" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Coronal synostosis" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Deformational anterior plagiocephaly" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anterior flat head syndrome" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Coronal synostosis" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Deformational anterior plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformational frontal plagiocephaly" EXACT [HPO:skoehler] -synonym: "Frontal plagiocephaly" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Positional anterior plagiocephaly" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Positional frontal plagiocephaly" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Unicoronal craniosynostosis" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Frontal plagiocephaly" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Positional anterior plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Positional frontal plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Unicoronal craniosynostosis" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:254020001 xref: UMLS:C0432124 xref: UMLS:C4023413 @@ -85851,7 +85993,7 @@ id: HP:0011330 name: Metopic synostosis def: "Premature fusion of the metopic suture." [DDD:awilkie] subset: hposlim_core -synonym: "Metopic craniosynostosis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Metopic craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Metopic suture craniosynostosis" EXACT [] xref: MSH:C562951 xref: MSH:D003398 @@ -85867,13 +86009,13 @@ id: HP:0011331 name: Hemifacial atrophy def: "Unilateral atrophy of facial tissues, including muscles, bones and skin." [DDD:awilkie] subset: hposlim_core -synonym: "Atrophy of half of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Atrophy of one side of the face" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decrease in size of half of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decrease in size of one side of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Facial hemiatrophy" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Shrinking of half of face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Shrinking of one side of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Atrophy of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Atrophy of one side of the face" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decrease in size of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decrease in size of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Facial hemiatrophy" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Shrinking of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Shrinking of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005150 xref: SNOMEDCT_US:718224004 xref: SNOMEDCT_US:95834000 @@ -85886,8 +86028,8 @@ creation_date: 2012-02-25T05:04:56Z id: HP:0011332 name: Hemifacial hypoplasia def: "Unilateral underdevelopment of the facial tissues, including muscles and bones." [DDD:awilkie] -synonym: "Decreased size of half of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of one side of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of half of the face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hemifacial microsomia" RELATED [] xref: MSH:D006053 xref: SNOMEDCT_US:254025006 @@ -85903,8 +86045,8 @@ name: Asymmetric crying face def: "Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side." [HPO:cwright] comment: Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve. synonym: "Asymmetric crying face" EXACT layperson [] -synonym: "Hypoplasia of depressor angula oris muscle" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Partial unilateral facial paresis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypoplasia of depressor angula oris muscle" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Partial unilateral facial paresis" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C535349 xref: SNOMEDCT_US:51409009 xref: UMLS:C0431406 @@ -85916,7 +86058,7 @@ creation_date: 2012-02-25T05:07:01Z [Term] id: HP:0011334 name: Facial shape deformation -synonym: "Distortion of facial shape" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Distortion of facial shape" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Facial shape compression" EXACT [] synonym: "Facial shape deformation" EXACT layperson [] xref: UMLS:C4021159 @@ -85951,7 +86093,7 @@ creation_date: 2012-02-25T05:25:36Z id: HP:0011337 name: Abnormality of mouth size synonym: "Abnormality of mouth size" EXACT layperson [] -synonym: "Anomaly of mouth size" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of mouth size" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023408 is_a: HP:0000153 ! Abnormality of the mouth created_by: peter @@ -85961,10 +86103,11 @@ creation_date: 2012-02-26T11:00:17Z id: HP:0011338 name: Abnormality of mouth shape def: "An abnormality of the outline, configuration, or contour of the mouth." [DDD:jhurst] -synonym: "Abnormal mouth morphology" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal mouth morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of mouth shape" EXACT layperson [] -synonym: "Anomaly of mouth shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unusual mouth shape" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of mouth shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Unusual mouth shape" NARROW layperson [ORCID:0000-0001-5889-4463] +xref: Fyler:4874 xref: UMLS:C4023407 is_a: HP:0000153 ! Abnormality of the mouth created_by: peter @@ -85974,10 +86117,10 @@ creation_date: 2012-02-26T01:05:23Z id: HP:0011339 name: Abnormality of upper lip vermillion def: "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin." [HPO:probinson] -synonym: "Abnormality of the red part of the upper lip" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the upper lip vermillion" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the upper lip vermillion" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the upper lip vermillion" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4023406 is_a: HP:0000177 ! Abnormality of upper lip created_by: peter @@ -85988,10 +86131,10 @@ id: HP:0011340 name: Incomplete cleft of the upper lip def: "A subtle unilateral cleft of the upper lip, which may appear as a small indentation." [DDD:jclayton-smith] synonym: "Forme fruste unilateral cleft lip" EXACT [] -synonym: "Incomplete cheiloschisis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Incomplete cheiloschisis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Incomplete cleft of the upper lip" EXACT layperson [] -synonym: "Notched cleft of the upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Partial cleft of the upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Notched cleft of the upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Partial cleft of the upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021158 is_a: HP:0000204 ! Cleft upper lip created_by: peter @@ -86001,9 +86144,9 @@ creation_date: 2012-02-26T01:55:36Z id: HP:0011341 name: Long upper lip def: "Increased width of the upper lip." [DDD:jhurst] -synonym: "Elongation of upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased height of upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased vertical length of upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Elongation of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased height of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased vertical length of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long upper lip" EXACT layperson [] xref: UMLS:C3151495 is_a: HP:0000177 ! Abnormality of upper lip @@ -86014,7 +86157,7 @@ creation_date: 2012-02-26T01:58:08Z id: HP:0011342 name: Mild global developmental delay def: "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] -synonym: "Psychomotor retardation, mild" RELATED [orcid.org/0000-0001-5208-3432] +synonym: "Psychomotor retardation, mild" RELATED [ORCID:0000-0001-5208-3432] xref: UMLS:C2229182 xref: UMLS:C4012968 is_a: HP:0001263 ! Global developmental delay @@ -86086,7 +86229,7 @@ id: HP:0011349 name: Abducens palsy def: "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward." [HPO:probinson] comment: Affected individuals may experience diplopia as well as esotropia or convergent strabismus. -synonym: "Sixth nerve palsy" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Sixth nerve palsy" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:C564661 xref: MSH:D020434 xref: SNOMEDCT_US:398760006 @@ -86215,7 +86358,7 @@ creation_date: 2012-03-01T08:36:23Z id: HP:0011361 name: Congenital abnormal hair pattern def: "A congenital abnormality of the distribution of hair growth." [DDD:cmoss] -synonym: "Abnormal hair pattern since birth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal hair pattern since birth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023398 is_a: HP:0010720 ! Abnormal hair pattern created_by: peter @@ -86238,8 +86381,8 @@ name: Abnormality of hair growth rate def: "Hair whose growth rate deviates from the norm." [DDD:cmoss] comment: Hair growth rate is normally about 1.25 centimeters per month. synonym: "Abnormality of hair growth rate" EXACT layperson [] -synonym: "Abnormality of pace of hair growth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of speed of hair growth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of pace of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of speed of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023396 is_a: HP:0040170 ! Abnormality of hair growth created_by: peter @@ -86324,7 +86467,7 @@ id: HP:0011372 name: Aplasia of the inner ear def: "Absence of the inner ear due to a developmental defect." [DDD:dfitzpatrick] comment: Aplasia of the inner ear is usually diagnosed on MR or CT imaging. -synonym: "Absent inner ear" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent inner ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the labyrinth" EXACT [] synonym: "Labyrinthine aplasia" EXACT [] synonym: "Michel deformity" EXACT [] @@ -86356,7 +86499,7 @@ creation_date: 2012-03-07T08:26:25Z id: HP:0011375 name: Cochlear aplasia def: "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO:dfitzpatrick] -synonym: "Absent cochlea" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent cochlea" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023390 is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea created_by: peter @@ -86377,7 +86520,7 @@ creation_date: 2012-03-07T08:35:08Z id: HP:0011377 name: Aplasia of the vestibule def: "Complete absence of the vestibule of the inner ear." [DDD:dfitzpatrick] -synonym: "Absent vestibule" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent vestibule" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023389 is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter @@ -86414,7 +86557,7 @@ creation_date: 2012-03-09T07:12:21Z id: HP:0011381 name: Aplasia of the semicircular canal def: "Absence of the semicircular canal." [DDD:dfitzpatrick] -synonym: "Absent semicircular canal" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent semicircular canal" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023385 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: peter @@ -86425,7 +86568,7 @@ id: HP:0011382 name: Hypoplasia of the semicircular canal def: "Underdevelopment of the semicircular canal." [DDD:dfitzpatrick] synonym: "Hypoplasia of the semicircular canals" RELATED [HPO:skoehler] -synonym: "Small semicircular canal" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Small semicircular canal" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C3552156 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: peter @@ -86535,9 +86678,9 @@ id: HP:0011393 name: Aplasia of the vestibular nerve. def: "Absence of the vestibular nerve" [DDD:mbitner-glidicz] comment: May be seen in CHARGE syndrome. -synonym: "Absent cranial nerve viii" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Absent the eighth cranial nerve" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Absent vestribular nerve" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent cranial nerve viii" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Absent the eighth cranial nerve" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Absent vestribular nerve" EXACT [ORCID:0000-0001-5208-3432] synonym: "Aplasia of cranial nerve VIII" RELATED [] synonym: "Aplasia of the eighth cranial nerve" EXACT [] xref: UMLS:C4020751 @@ -86562,8 +86705,8 @@ creation_date: 2012-03-09T05:14:35Z id: HP:0011395 name: Aplasia/Hypoplasia of the cochlea def: "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO:probinson] -synonym: "Absent/small cochlea" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped cochlea" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small cochlea" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped cochlea" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023378 is_a: HP:0000375 ! Abnormal cochlea morphology is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear @@ -86602,7 +86745,7 @@ creation_date: 2012-03-12T04:39:51Z id: HP:0011399 name: Tibialis atrophy def: "Atrophy of the tibialis muscle." [HPO:probinson] -synonym: "Tibialis muscle degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Tibialis muscle degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023375 is_a: HP:0008944 ! Distal lower limb amyotrophy created_by: peter @@ -86729,8 +86872,8 @@ creation_date: 2012-03-15T09:58:47Z id: HP:0011412 name: Ventouse delivery def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately." [DDD:hfirth] -synonym: "Vacuum extraction" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Vacuum-assisted vaginal delivery" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Vacuum extraction" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Vacuum-assisted vaginal delivery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014620 xref: SNOMEDCT_US:10761101000119105 xref: SNOMEDCT_US:61586001 @@ -86897,7 +87040,7 @@ creation_date: 2012-03-17T07:03:07Z id: HP:0011428 name: Short fetal femur length def: "A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)." [HPO:probinson, pmid:16100637] -synonym: "Short fetal thigh bone length" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short fetal thigh bone length" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0743924 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter @@ -86907,7 +87050,7 @@ creation_date: 2012-03-17T07:05:40Z id: HP:0011429 name: Short fetal humerus length def: "A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)." [HPO:probinson, pmid:16100637] -synonym: "Short fetal long bone in upper arm length" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short fetal long bone in upper arm length" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023364 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter @@ -86917,7 +87060,7 @@ creation_date: 2012-03-17T07:07:05Z id: HP:0011430 name: Hypoplasia of fetal nasal bone def: "On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (pmid:16100637)." [HPO:probinson, pmid:16100637] -synonym: "Underdeveloped fetal nose bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped fetal nose bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023363 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter @@ -86927,9 +87070,9 @@ creation_date: 2012-03-17T07:08:30Z id: HP:0011431 name: Fetal fifth finger clinodactyly def: "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (pmid:16100637)." [HPO:probinson, pmid:16100637] -synonym: "Fetal little finger curvature" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fetal pinkie finger curvature" BROAD layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fetal pinky finger curvature" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fetal little finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Fetal pinkie finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Fetal pinky finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023362 xref: UMLS:C4280326 is_a: HP:0011425 ! Fetal ultrasound soft marker @@ -87135,7 +87278,7 @@ creation_date: 2012-03-18T05:11:32Z [Term] id: HP:0011450 name: CNS infection -synonym: "Central nervous system infection" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Central nervous system infection" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D002494 xref: SNOMEDCT_US:128117002 xref: UMLS:C0007684 @@ -87147,17 +87290,17 @@ creation_date: 2012-03-18T05:57:29Z id: HP:0011451 name: Congenital microcephaly def: "Microcephaly (HP:0000252) that is present already at the time of birth." [HPO:probinson] -synonym: "Congenital decreased head circumference" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Congenital small head" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Congenital small head circumference" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Congenital small skull" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased head circumference present at birth" EXACT [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Head circumference small for gestational age" RELATED [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Microcephaly present at birth" EXACT [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Small cranium present at birth" EXACT [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Small head circumference present at birth" BROAD [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Small head present at birth" BROAD layperson [HPO:orcid.org/0000-0001-5889-4463] -synonym: "Small skull present at birth" BROAD [HPO:orcid.org/0000-0001-5889-4463] +synonym: "Congenital decreased head circumference" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Congenital small head" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Congenital small head circumference" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Congenital small skull" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased head circumference present at birth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Head circumference small for gestational age" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Microcephaly present at birth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small cranium present at birth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small head circumference present at birth" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Small head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Small skull present at birth" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C2677180 xref: UMLS:C4020749 is_a: HP:0000252 ! Microcephaly @@ -87219,10 +87362,10 @@ name: Loss of eyelashes def: "This term refers to the loss of eyelashes that were previously present." [HPO:probinson] comment: Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions. synonym: "Ciliary Madarosis" EXACT [] -synonym: "Eyelashes fell out" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelashes fell out" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Loss of eyelashes" EXACT layperson [] synonym: "Milphosis" EXACT [] -synonym: "Missing eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Missing eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:34887006 xref: UMLS:C0271321 is_a: HP:0000499 ! Abnormality of the eyelashes @@ -87308,8 +87451,8 @@ creation_date: 2012-03-25T07:38:12Z id: HP:0011466 name: Aplasia/Hypoplasia of the gallbladder def: "Absence or underdevelopment of the gallbladder." [HPO:probinson] -synonym: "Absent/small gallbladder" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped gallbladder" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023344 is_a: HP:0012437 ! Abnormal gallbladder morphology created_by: peter @@ -87333,16 +87476,16 @@ creation_date: 2012-03-25T07:41:14Z id: HP:0011468 name: Facial tics def: "Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face." [DDD:cwright] -synonym: "Cramping of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Facial spasms" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cramping of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Facial spasms" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial tics" EXACT layperson [] -synonym: "Involuntary facial muscle spasms" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Jerking of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Mimic spasms" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Muscle spasm of face" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Myoclonus of facial muscles" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Spasms of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Twitching of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Involuntary facial muscle spasms" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Jerking of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Mimic spasms" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Muscle spasm of face" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Myoclonus of facial muscles" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Spasms of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Twitching of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:230335009 xref: SNOMEDCT_US:32402008 xref: UMLS:C0278151 @@ -87389,7 +87532,7 @@ creation_date: 2012-03-25T10:00:00Z [Term] id: HP:0011472 name: Abnormality of small intestinal villus morphology -synonym: "Abnormal shape of small intestinal villus" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of small intestinal villus" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023341 is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter @@ -87405,7 +87548,7 @@ synonym: "Biopsy shows villous atrophy" RELATED [HPO:skoehler] synonym: "Duodenal villous atrophy" RELATED [HPO:skoehler] synonym: "Small intestine biopsy shows villous atrophy" RELATED [HPO:skoehler] synonym: "Variable degree of villous atrophy" RELATED [HPO:skoehler] -synonym: "Villous degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Villous degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:275403002 xref: SNOMEDCT_US:75581001 xref: UMLS:C0267456 @@ -87462,9 +87605,9 @@ id: HP:0011478 name: True anophthalmia def: "Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination." [DDD:ncarter] comment: True anophthalmia implies an early failure of eye development. -synonym: "Complete anophthalmia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Completely missing eyeball" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Total anophthalmia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Complete anophthalmia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Completely missing eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Total anophthalmia" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C2675590 is_a: HP:0000528 ! Anophthalmia created_by: peter @@ -87484,8 +87627,8 @@ creation_date: 2012-04-01T09:08:05Z id: HP:0011480 name: Unilateral microphthalmos def: "A developmental anomaly characterized by abnormal smallness of one eye." [DDD:ncarter] -synonym: "Abnormally small eyeball on one side" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral nanophthalmos" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally small eyeball on one side" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Unilateral nanophthalmos" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C3640024 xref: UMLS:C4280323 is_a: HP:0000568 ! Microphthalmia @@ -87552,7 +87695,7 @@ id: HP:0011486 name: Abnormality of corneal thickness def: "An abnormal anteroposterior thickness of the cornea." [DDD:gblack] xref: UMLS:C4023333 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-02T10:15:01Z @@ -87570,7 +87713,7 @@ id: HP:0011488 name: Abnormality of corneal endothelium def: "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea." [DDD:gblack] xref: UMLS:C4023332 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-02T10:18:50Z @@ -87607,7 +87750,7 @@ id: HP:0011492 name: Abnormality of corneal stroma def: "An abnormality of the stroma of cornea, also known as the substantia propria of cornea." [DDD:ncarter, HPO:probinson] xref: UMLS:C4023328 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-02T10:28:49Z @@ -87635,7 +87778,7 @@ id: HP:0011495 name: Abnormality of corneal epithelium def: "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea." [DDD:gblack] xref: UMLS:C4023326 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-03T07:10:49Z @@ -87647,11 +87790,11 @@ comment: New blood vessels, which sprout from the capillaries and venules of the synonym: "Corneal neovascularisation" EXACT HP:0045076 [] synonym: "Corneal vascularization" EXACT [] synonym: "Limbal neovascularization" EXACT [] -synonym: "New blood vessel formation in cornea" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "New blood vessel formation in cornea" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D016510 xref: SNOMEDCT_US:19161004 xref: UMLS:C0085109 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-03T07:15:37Z @@ -87659,7 +87802,7 @@ creation_date: 2012-04-03T07:15:37Z id: HP:0011497 name: Iris neovascularization def: "New growth of vessels on the surface of the iris." [DDD:ncarter] -synonym: "New blood vessel formation in iris" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "New blood vessel formation in iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:51995000 xref: UMLS:C0154916 is_a: HP:0007905 ! Abnormal iris vasculature @@ -87680,7 +87823,7 @@ id: HP:0011499 name: Mydriasis def: "Abnormal dilatation of the iris." [DDD:ncarter] subset: hposlim_core -synonym: "Dilated pupil" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dilated pupil" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015878 xref: SNOMEDCT_US:37125009 xref: UMLS:C0026961 @@ -87692,7 +87835,7 @@ creation_date: 2012-04-03T07:49:21Z id: HP:0011500 name: Polycoria def: "Multiple pupils." [DDD:ncarter] -synonym: "Multiple pupils" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Multiple pupils" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:204159004 xref: UMLS:C0344544 is_a: HP:0000615 ! Abnormal pupil morphology @@ -87724,7 +87867,7 @@ id: HP:0011503 name: Aplasia of the fovea def: "Congenital absence of the fovea." [HPO:probinson] comment: Aplasia of the fovea can occur in aniridia and albinism. -synonym: "Absent fovea" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent fovea" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023324 is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea created_by: peter @@ -87734,7 +87877,7 @@ creation_date: 2012-04-06T08:40:21Z id: HP:0011504 name: Bull's eye maculopathy def: "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack] -synonym: "Chloroquine retinopathy" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Chloroquine retinopathy" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:C537833 xref: SNOMEDCT_US:312958000 xref: SNOMEDCT_US:424169002 @@ -87821,7 +87964,7 @@ creation_date: 2012-04-06T09:55:43Z [Term] id: HP:0011512 name: Hyperpigmentation of the fundus -def: "Increased pigmentation of the fundus" [DDD:ncarter, UManchester:psergouniotis] +def: "Increased pigmentation of the fundus" [DDD:ncarter, ORCID:0000-0003-0986-4123] synonym: "Hyperpigmented fundi" EXACT [] synonym: "Hyperpigmented fundus" EXACT [] xref: UMLS:C4021146 @@ -87908,7 +88051,7 @@ name: Deuteranomaly def: "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green." [HPO:probinson] comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. synonym: "Deuteranomoly" EXACT [] -synonym: "Green-weak" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Green-weak" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003117 xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 @@ -87923,7 +88066,7 @@ id: HP:0011521 name: Deuteranopia def: "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green." [DDD:gblack] comment: Blue and red cones only; no functional green cones. -synonym: "Green-blind" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Green-blind" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003117 xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 @@ -87937,7 +88080,7 @@ creation_date: 2012-04-06T07:34:40Z id: HP:0011522 name: Protanopia def: "Blue and green cones only; no functional red cones." [DDD:gblack] -synonym: "Red-blind" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Red-blind" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003117 xref: SNOMEDCT_US:51445007 xref: UMLS:C0155015 @@ -87971,7 +88114,7 @@ creation_date: 2012-04-06T09:06:41Z id: HP:0011525 name: Iris nevus def: "A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated." [DDD:ncarter] -synonym: "Eye freckle" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Eye freckle" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:95711003 xref: UMLS:C0346376 is_a: HP:0000525 ! Abnormality iris morphology @@ -87993,7 +88136,7 @@ id: HP:0011527 name: Lentiglobus def: "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging." [DDD:gblack] subset: hposlim_core -synonym: "Bulging of eye lens" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Bulging of eye lens" BROAD layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:419281007 xref: UMLS:C1622439 xref: UMLS:C4280322 @@ -88088,7 +88231,7 @@ creation_date: 2012-04-07T10:27:48Z id: HP:0011535 name: Abnormal atrial arrangement def: "Abnormality of the spatial relationship of the atria to other components of the heart." [DDD:dbrown] -synonym: "Abnormal location of heart atrium" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal location of heart atrium" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:445898001 xref: UMLS:C2959688 is_a: HP:0005120 ! Abnormal cardiac atrium morphology @@ -88124,6 +88267,8 @@ id: HP:0011538 name: Atrial situs inversus def: "Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side." [DDD:dbrown] xref: EPCC:03.01.03 +xref: Fyler:0150 +xref: Fyler:150 xref: ICD-10:Q89.3 xref: UMLS:C4023312 is_a: HP:0011535 ! Abnormal atrial arrangement @@ -88134,8 +88279,8 @@ creation_date: 2012-04-07T10:40:16Z id: HP:0011539 name: Atrial situs ambiguous def: "Common atrium without defining morphologic features." [DDD:dbrown] -synonym: "Atrial heterotaxy" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Atrial situs ambiguus" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Atrial heterotaxy" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Atrial situs ambiguus" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:448681000 xref: UMLS:C3164429 is_a: HP:0011535 ! Abnormal atrial arrangement @@ -88181,6 +88326,8 @@ creation_date: 2012-04-07T10:55:06Z [Term] id: HP:0011543 name: Superior-inferior ventricles without criss-cross atrioventricular valves +xref: Fyler:0184 +xref: Fyler:184 xref: UMLS:C4023308 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter @@ -88347,6 +88494,8 @@ name: Mitral atresia def: "A congenital defect with failure to open of the mitral valve orifice." [DDD:dbrown] synonym: "Mitral valve atresia" EXACT [] xref: EPCC:06.02.01 +xref: Fyler:0310 +xref: Fyler:310 xref: ICD-10:Q23.2 xref: SNOMEDCT_US:23063005 xref: UMLS:C0344760 @@ -88397,7 +88546,8 @@ creation_date: 2012-04-08T10:03:28Z id: HP:0011565 name: Common atrium def: "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [DDD:dbrown, HPO:probinson] -synonym: "Single atrium" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Single atrium" EXACT [ORCID:0000-0001-6908-9849] +xref: Fyler:1140 xref: ICD-10:Q21.2 xref: SNOMEDCT_US:253276007 xref: UMLS:C0392482 @@ -88410,7 +88560,8 @@ id: HP:0011566 name: Cor triatriatum dexter def: "A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue." [DDD:dbrown, HPO:probinson, pmid:17948095] comment: Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side. -synonym: "Cor triatriatum dextrum" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Cor triatriatum dextrum" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:2854 xref: SNOMEDCT_US:274947007 xref: UMLS:C0344697 is_a: HP:0010774 ! Cor triatriatum @@ -88421,6 +88572,7 @@ creation_date: 2012-04-08T08:02:56Z id: HP:0011567 name: Sinus venosus atrial septal defect def: "An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting." [DDD:dbrown, HPO:probinson, pmid:16172274] +xref: Fyler:2010 xref: ICD-10:Q21.1 xref: MSH:C548009 xref: SNOMEDCT_US:95268002 @@ -88485,7 +88637,8 @@ id: HP:0011573 name: Hypoplastic tricuspid valve def: "Congenital defect characterized by underdevelopment of the tricuspid valve." [DDD:dbrown] synonym: "Tricuspid valve hypoplasia" EXACT [] -synonym: "Underdeveloped tricuspid valve" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped tricuspid valve" EXACT [ORCID:0000-0001-6908-9849] +xref: Fyler:1720 xref: UMLS:C4023294 is_a: HP:0001702 ! Abnormal tricuspid valve morphology created_by: peter @@ -88495,7 +88648,7 @@ creation_date: 2012-04-08T10:22:38Z id: HP:0011574 name: Imperforate atrioventricular valve def: "An atrioventricular valve that has failed to open (atretic)." [DDD:dbrown] -synonym: "Unopened atrioventricular valve" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Unopened atrioventricular valve" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023293 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology created_by: peter @@ -88506,7 +88659,7 @@ id: HP:0011575 name: Imperforate tricuspid valve def: "An tricuspid valve that has failed to open." [DDD:dbrown, PMID:7066117] comment: Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography. -synonym: "Unopened tricuspid valve" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Unopened tricuspid valve" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023292 is_a: HP:0001702 ! Abnormal tricuspid valve morphology is_a: HP:0011574 ! Imperforate atrioventricular valve @@ -88518,6 +88671,7 @@ id: HP:0011576 name: Intermediate atrioventricular canal defect def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices." [DDD:dbrown] synonym: "Intermediate atrioventricular septal defect" EXACT [] +xref: Fyler:1121 xref: UMLS:C4023291 is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter @@ -88566,10 +88720,12 @@ creation_date: 2012-04-08T12:01:44Z id: HP:0011581 name: Double outlet left ventricle def: "A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle." [HPO:probinson] +xref: Fyler:0650 +xref: Fyler:650 xref: ICD-10:Q20.2 xref: SNOMEDCT_US:7368005 xref: UMLS:C0265809 -is_a: HP:0001711 ! Abnormal morphology of the left ventricle +is_a: HP:0001711 ! Abnormal left ventricle morphology created_by: peter creation_date: 2012-04-08T12:37:48Z @@ -88660,6 +88816,7 @@ creation_date: 2012-04-08T01:38:36Z id: HP:0011590 name: Double aortic arch def: "A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor)." [DDD:dbrown, HPO:probinson, pmid:15148283, pmid:15564538] +xref: Fyler:2761 xref: SNOMEDCT_US:10451007 xref: UMLS:C0265883 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch @@ -88743,6 +88900,8 @@ creation_date: 2012-04-08T02:27:16Z id: HP:0011599 name: Mesocardia def: "Mesocardia is a abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane." [DDD:dbrown, HPO:probinson] +xref: Fyler:0140 +xref: Fyler:140 xref: SNOMEDCT_US:16567006 xref: UMLS:C0265865 is_a: HP:0004307 ! Abnormal anatomic location of the heart @@ -88789,6 +88948,8 @@ creation_date: 2012-04-08T02:51:09Z id: HP:0011604 name: Aortopulmonary window def: "A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt." [DDD:dbrown, HPO:probinson] +xref: Fyler:0560 +xref: Fyler:560 xref: MSH:D001028 xref: SNOMEDCT_US:17024001 xref: UMLS:C0003516 @@ -88824,6 +88985,8 @@ def: "Truncus arteriosus (single great artery leaving the base of the heart, giv comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type II" EXACT [] synonym: "Type 2 truncus arteriosus" EXACT [] +xref: Fyler:0520 +xref: Fyler:520 xref: UMLS:C4021137 is_a: HP:0001660 ! Truncus arteriosus created_by: peter @@ -88836,6 +88999,8 @@ def: "Truncus arteriosus (single great artery leaving the base of the heart, giv comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type III" EXACT [] synonym: "Type 3 truncus arteriosus" EXACT [] +xref: Fyler:0530 +xref: Fyler:530 xref: UMLS:C4021136 is_a: HP:0001660 ! Truncus arteriosus created_by: peter @@ -88848,6 +89013,8 @@ def: "Truncus arteriosus (single great artery leaving the base of the heart, giv comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type IV" EXACT [] synonym: "Type 4 truncus arteriosus" EXACT [] +xref: Fyler:0540 +xref: Fyler:540 xref: UMLS:C4021135 is_a: HP:0001660 ! Truncus arteriosus created_by: peter @@ -88860,6 +89027,8 @@ alt_id: HP:0006680 def: "Non-continuity of the arch of aorta with an atretic point or absent segment." [DDD:dbrown] synonym: "Aortic arch obstruction" RELATED [] synonym: "Atretic transverse aortic arch" EXACT [] +xref: Fyler:1241 +xref: Fyler:1250 xref: SNOMEDCT_US:218728005 xref: UMLS:C0152419 is_a: HP:0012303 ! Abnormal aortic arch morphology @@ -88881,6 +89050,7 @@ id: HP:0011613 name: Interrupted aortic arch type B def: "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries." [DDD:dbrown] synonym: "Interrupted aortic arch, type b" EXACT [] +xref: Fyler:1252 xref: SNOMEDCT_US:253682003 xref: UMLS:C0345093 is_a: HP:0011611 ! Interrupted aortic arch @@ -88973,6 +89143,7 @@ def: "A ventricular septal defect that involves the inlet of the right ventricul comment: The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically. synonym: "Atrioventricular canal type ventricular septal defect" EXACT [] synonym: "Type 3 ventricular septal defect" EXACT [] +xref: Fyler:1340 xref: MSH:C535974 xref: SNOMEDCT_US:360481003 xref: UMLS:C0221215 @@ -88986,6 +89157,7 @@ name: Muscular ventricular septal defect def: "The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle." [DDD:dbrown, pmid:17101870] synonym: "Type 4 ventricular septal defect" EXACT [] synonym: "Ventricular septal defect, muscular" RELATED [HPO:skoehler] +xref: Fyler:1320 xref: SNOMEDCT_US:94706008 xref: UMLS:C0685707 is_a: HP:0001629 ! Ventricular septal defect @@ -89015,7 +89187,7 @@ creation_date: 2012-04-08T09:49:03Z id: HP:0011626 name: Scimitar anomaly def: "Right pulmonary venous return to the inferior vena cava." [DDD:dbrown, pmid:16638549] -synonym: "Pulmonary venolobar syndrome" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Pulmonary venolobar syndrome" EXACT [ORCID:0000-0001-6908-9849] synonym: "Scimitar syndrome" EXACT [] xref: ICD-10:Q26.8 xref: MSH:D012587 @@ -89048,8 +89220,9 @@ creation_date: 2012-04-08T10:05:20Z id: HP:0011629 name: Total absence of the pericardium def: "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy." [DDD:dbrown] -synonym: "Absent pericardium" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Congenital absence of the pericardium" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Absent pericardium" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Congenital absence of the pericardium" EXACT [ORCID:0000-0001-6908-9849] +xref: Fyler:1910 xref: SNOMEDCT_US:253732001 xref: UMLS:C0345140 is_a: HP:0011628 ! Congenital defect of the pericardium @@ -89089,7 +89262,7 @@ id: HP:0011633 name: Complete left sided absence of pericardium def: "A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart." [DDD:dbrown] comment: A congenital anomaly and not the result of a pericardectomy. -synonym: "Absent lining around of left side of heart" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent lining around of left side of heart" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023256 is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter @@ -89140,6 +89313,7 @@ comment: In this anomaly the function of the LMCA territory often requires exten synonym: "ALCAPA" EXACT HP:0045077 [] synonym: "Anomalous left coronary artery from the pulmonary artery" EXACT [] synonym: "Bland-Garland-White syndrome" EXACT [] +xref: Fyler:3101 xref: SNOMEDCT_US:450301003 xref: UMLS:C3472166 is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery @@ -89170,7 +89344,8 @@ id: HP:0011641 name: Coronary artery fistula def: "A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel." [DDD:dbrown, HPO:probinson, pmid:20513726] comment: Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas. -synonym: "Coronary fistula" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Coronary fistula" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:2230 xref: SNOMEDCT_US:373093003 xref: UMLS:C0265898 is_a: HP:0011686 ! Abnormal coronary artery course @@ -89182,6 +89357,7 @@ id: HP:0011642 name: Abnormal coronary sinus morphology def: "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium." [DDD:dbrown, HPO:probinson] synonym: "Abnormality of the coronary sinus" EXACT [] +xref: Fyler:2840 xref: SNOMEDCT_US:253323000 xref: UMLS:C0344680 is_a: HP:0005120 ! Abnormal cardiac atrium morphology @@ -89214,9 +89390,10 @@ id: HP:0011645 name: Dilatation of the sinus of Valsalva def: "Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve." [UBERON_0003707] comment: Aneurysm is considered a severe form of dilatation. -synonym: "Aneurysm of the aortic sinus" NARROW [orcid.org/0000-0001-6908-9849] +synonym: "Aneurysm of the aortic sinus" NARROW [ORCID:0000-0001-6908-9849] synonym: "Aortic sinus aneurysm" EXACT [] synonym: "Sinus of Valsalva aneurysm" NARROW [] +xref: Fyler:2316 xref: SNOMEDCT_US:54160000 xref: UMLS:C2239253 is_a: HP:0004970 ! Ascending tubular aorta aneurysm @@ -89267,7 +89444,7 @@ creation_date: 2012-04-09T09:59:59Z id: HP:0011650 name: Bilateral ductus arteriosus def: "The presence of both a left and a right ductus arteriosus." [DDD:dbrown] -synonym: "Bilateral ductus botalli" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Bilateral ductus botalli" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:461093009 xref: UMLS:C0431501 is_a: HP:0001643 ! Patent ductus arteriosus @@ -89288,9 +89465,11 @@ creation_date: 2012-04-09T10:02:22Z [Term] id: HP:0011652 name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis -def: "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [] {comment="PMID:6193702"} -synonym: "DORV with doubly committed VSD" EXACT [] {comment="PMID:10798433"} +def: "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] +synonym: "DORV with doubly committed VSD" EXACT [PMID:10798433] synonym: "Double outlet right ventricle, doubly committed ventricular septal defect" EXACT [] +xref: Fyler:0604 +xref: Fyler:604 xref: UMLS:C4023247 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter @@ -89312,6 +89491,8 @@ name: Double outlet right ventricle with non-committed ventricular septal defect def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853] synonym: "DORV with non-committed VSD without pulmonary stenosis" EXACT [] synonym: "Double outlet right ventricle, noncommitted ventricular septal defect" EXACT [] +xref: Fyler:0603 +xref: Fyler:603 xref: UMLS:C4023245 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter @@ -89375,6 +89556,8 @@ name: Anomalous origin of one pulmonary artery from ascending aorta def: "Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle." [DDD:dbrown, pmid:2590592] comment: Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle. synonym: "Hemitruncus" EXACT [] +xref: Fyler:0550 +xref: Fyler:550 xref: UMLS:C4021134 is_a: HP:0030966 ! Abnormal pulmonary artery morphology created_by: peter @@ -89394,8 +89577,10 @@ creation_date: 2012-04-09T10:42:23Z id: HP:0011662 name: Tricuspid atresia def: "Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle." [DDD:dbrown, HPO:probinson] -synonym: "Tricuspid valve atresia" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Tricuspid valve atresia" EXACT [ORCID:0000-0001-5208-3432] xref: EPCC:06.01.01 +xref: Fyler:0400 +xref: Fyler:400 xref: ICD-10:Q22.4 xref: MSH:D018785 xref: SNOMEDCT_US:253455004 @@ -89432,7 +89617,7 @@ creation_date: 2012-04-09T11:31:40Z id: HP:0011665 name: Takotsubo cardiomyopathy def: "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." [pmid:17916581] -synonym: "Broken-heart syndrome" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Broken-heart syndrome" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D054549 xref: SNOMEDCT_US:441541008 xref: UMLS:C1739395 @@ -89617,6 +89802,7 @@ synonym: "Doubly committed ventricular septal defect" EXACT [] synonym: "Infundibular ventricular septal defect" EXACT [] synonym: "Supracristal ventricular septal defect" EXACT [] synonym: "Type 1 ventricular septal defect" EXACT [] +xref: Fyler:1330 xref: SNOMEDCT_US:448876006 xref: UMLS:C3165130 is_a: HP:0001629 ! Ventricular septal defect @@ -89630,9 +89816,10 @@ def: "A ventricular septal defect that is confluent with and involves the membra synonym: "Conoventricular ventricular septal defect" EXACT [] synonym: "Membranous ventricular septal defect" EXACT [] synonym: "Paramembranous ventricular septal defect" EXACT [] -synonym: "Perimembraneous ventricular septal defect" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Perimembraneous ventricular septal defect" EXACT [ORCID:0000-0001-5208-3432] synonym: "Type 2 ventricular septal defect" EXACT [] synonym: "Ventricular septal defect, perimembranous" RELATED [HPO:skoehler] +xref: Fyler:1310 xref: SNOMEDCT_US:109428005 xref: UMLS:C0344925 is_a: HP:0001629 ! Ventricular septal defect @@ -89687,7 +89874,7 @@ id: HP:0011687 name: AV nodal tachycardia def: "A type of supraventricular tachycardia that originates in the atrioventricular node." [DDD:dbrown, PMID:20733110] synonym: "Atrioventricular nodal tachycardia" EXACT [] -synonym: "AV nodal tachycardia" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "AV nodal tachycardia" EXACT HP:0045077 [] xref: UMLS:C0857265 is_a: HP:0004755 ! Supraventricular tachycardia created_by: peter @@ -89696,6 +89883,7 @@ creation_date: 2012-04-10T08:45:26Z [Term] id: HP:0011688 name: Supraventricular tachycardia with an accessory connection mediated pathway +def: "Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism." [PMID:22459483] synonym: "Atrioventricular re-entry tachycardia" EXACT [] xref: UMLS:C4021132 is_a: HP:0004755 ! Supraventricular tachycardia @@ -89705,6 +89893,7 @@ creation_date: 2012-04-10T10:33:56Z [Term] id: HP:0011689 name: Supraventricular tachycardia with a concealed accessory connection +def: "Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm." [PMID:22459483] xref: UMLS:C4023231 is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway created_by: peter @@ -89821,6 +90010,7 @@ creation_date: 2012-04-10T11:20:13Z id: HP:0011702 name: Abnormal electrophysiology of sinoatrial node origin def: "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart." [HPO:probinson] +xref: Fyler:7010 xref: UMLS:C4023222 is_a: HP:0011675 ! Arrhythmia created_by: peter @@ -89830,8 +90020,8 @@ creation_date: 2012-04-10T11:22:43Z id: HP:0011703 name: Sinus tachycardia def: "Heart rate of greater than 100 beats per minute." [] -synonym: "Sinus tach" EXACT [orcid.org/0000-0001-6908-9849] -synonym: "Sinus tachy" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Sinus tach" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Sinus tachy" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D013616 xref: SNOMEDCT_US:11092001 xref: UMLS:C0039239 @@ -90019,6 +90209,8 @@ name: Supracardiac total anomalous pulmonary venous connection def: "Type 1 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Total anomalous pulmonary venous connection, supracardiac" EXACT [] synonym: "Type 1 total anomalous pulmonary venous connection" EXACT [] +xref: Fyler:0910 +xref: Fyler:910 xref: UMLS:C4021131 is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter @@ -90030,6 +90222,10 @@ name: Cardiac total anomalous pulmonary venous connection def: "Type 2 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Total anomalous pulmonary venous connection, intracardiac" EXACT [] synonym: "Type 2 total anomalous pulmonary venous connection" EXACT [] +xref: Fyler:0920 +xref: Fyler:0930 +xref: Fyler:920 +xref: Fyler:930 xref: UMLS:C4021130 is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter @@ -90050,7 +90246,9 @@ id: HP:0011722 name: Mixed total anomalous pulmonary venous connection def: "Type 4 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Total anomalous pulmonary venous connection, mixed" EXACT [] -synonym: "Type 4 total anomalous pulmonary venous connection" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Type 4 total anomalous pulmonary venous connection" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:0950 +xref: Fyler:950 xref: UMLS:C4021128 is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter @@ -90102,7 +90300,7 @@ id: HP:0011727 name: Peroneal muscle weakness def: "Weakness of the peroneal muscles." [HPO:probinson] comment: THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side. -synonym: "Fibularis muscle weakness" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Fibularis muscle weakness" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C0240733 is_a: HP:0009053 ! Distal lower limb muscle weakness created_by: peter @@ -90257,7 +90455,7 @@ creation_date: 2012-04-21T09:32:28Z id: HP:0011742 name: Ectopic adrenal gland def: "Abnormal anatomical location of the adrenal gland." [DDD:spark] -synonym: "Abnormal adrenal gland position" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal adrenal gland position" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:49494003 xref: UMLS:C0266275 is_a: HP:0011732 ! Abnormality of adrenal morphology @@ -90348,8 +90546,8 @@ creation_date: 2012-04-22T01:09:54Z id: HP:0011750 name: Neoplasm of the anterior pituitary def: "A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [DDD:spark] -synonym: "Neoplasm of the adenohypophysis" EXACT [http://orcid.org/0000-0001-6908-9849] -synonym: "Neoplasm of the pars anterior" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Neoplasm of the adenohypophysis" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Neoplasm of the pars anterior" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023205 is_a: HP:0011747 ! Abnormality of the anterior pituitary is_a: HP:0040277 ! Neoplasm of the pituitary gland @@ -90360,7 +90558,7 @@ creation_date: 2012-04-22T01:18:46Z id: HP:0011751 name: Abnormality of the posterior pituitary def: "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [DDD:spark, HPO:probinson] -synonym: "Abnormality of the neurohypophysis" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Abnormality of the neurohypophysis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023204 is_a: HP:0012503 ! Abnormality of the pituitary gland created_by: peter @@ -90370,7 +90568,7 @@ creation_date: 2012-04-22T01:20:33Z id: HP:0011752 name: Neoplasm of the posterior pituitary def: "The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [DDD:spark] -synonym: "Neoplasm of the neurohypophysis" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Neoplasm of the neurohypophysis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1334957 is_a: HP:0011751 ! Abnormality of the posterior pituitary created_by: peter @@ -90380,7 +90578,7 @@ creation_date: 2012-04-22T01:31:18Z id: HP:0011753 name: Posterior pituitary dysgenesis def: "Abnormal development of the neurohypophysis during embryonic growth and development." [DDD:spark] -synonym: "Neurohypophysis dysplasia" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Neurohypophysis dysplasia" EXACT [ORCID:0000-0001-6908-9849] synonym: "Posterior pituitary dysplasia" EXACT [] xref: UMLS:C4021123 is_a: HP:0011751 ! Abnormality of the posterior pituitary @@ -90403,7 +90601,7 @@ creation_date: 2012-04-22T01:34:00Z id: HP:0011755 name: Ectopic posterior pituitary def: "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [DDD:spark, HPO:probinson] -synonym: "Ectopic neurohypophysis" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Ectopic neurohypophysis" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:715727009 xref: UMLS:C3279571 xref: UMLS:C4053775 @@ -90415,7 +90613,7 @@ creation_date: 2012-04-22T01:43:25Z id: HP:0011756 name: Posterior pituitary agenesis def: "Absence of the neurohypophysis owing to a developmental defect." [DDD:spark] -synonym: "Neurohypophysis agenesis" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Neurohypophysis agenesis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023203 is_a: HP:0011753 ! Posterior pituitary dysgenesis created_by: peter @@ -90425,7 +90623,7 @@ creation_date: 2012-04-22T01:55:35Z id: HP:0011757 name: Posterior pituitary hypoplasia def: "Underdevelopment of the neurohypophysis." [DDD:spark] -synonym: "Neurohypophysis hypoplasia" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Neurohypophysis hypoplasia" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023202 is_a: HP:0011753 ! Posterior pituitary dysgenesis created_by: peter @@ -90509,8 +90707,6 @@ id: HP:0011765 name: obsolete Ectopic anterior pituitary is_obsolete: true replaced_by: HP:0012731 -created_by: peter -creation_date: 2012-04-22T04:03:37Z [Term] id: HP:0011766 @@ -90574,7 +90770,7 @@ creation_date: 2012-04-22T04:54:37Z id: HP:0011772 name: Abnormality of thyroid morphology def: "A structural abnormality of the thyroid gland." [DDD:spark] -synonym: "Abnormal shape of thyroid gland" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of thyroid gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023195 is_a: HP:0000820 ! Abnormality of the thyroid gland created_by: peter @@ -90836,9 +91032,9 @@ creation_date: 2012-04-22T08:13:36Z id: HP:0011799 name: Abnormality of facial soft tissue synonym: "Abnormality of facial soft tissue" EXACT layperson [] -synonym: "Anomaly of facial soft tissue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of facial soft tissue" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of facial soft tissue" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of facial soft tissue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of facial soft tissue" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of facial soft tissue" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023183 is_a: HP:0000271 ! Abnormality of the face created_by: peter @@ -90850,18 +91046,18 @@ name: Midface retrusion alt_id: HP:0040199 def: "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith, pmid:19125436] subset: hposlim_core -synonym: "Decreased projection of midface" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased size of midface" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased projection of midface" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased size of midface" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat midface" EXACT [] synonym: "Hypoplasia of midface" EXACT [] -synonym: "Hypotrophic midface" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Midface deficiency" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrophic midface" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Midface deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midface hypoplasia" EXACT [HPO:skoehler] synonym: "Midface retrusion" EXACT layperson [] synonym: "Midface, flat" EXACT [] -synonym: "Retrusive midface" EXACT [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] -synonym: "Small midface" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of midface" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Retrusive midface" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] +synonym: "Small midface" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of midface" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1853242 xref: UMLS:C2673410 xref: UMLS:C4280320 @@ -90875,8 +91071,8 @@ id: HP:0011801 name: Enlargement of parotid gland def: "Increased size of the parotid gland." [DDD:jclayton-smith] synonym: "Hyperplasia of parotid gland" EXACT [] -synonym: "Hypertrophy of parotid gland" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of parotid gland" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hypertrophy of parotid gland" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased size of parotid gland" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:29748005 xref: UMLS:C0341047 is_a: HP:0000197 ! Abnormality of parotid gland @@ -90887,7 +91083,7 @@ creation_date: 2012-04-24T07:59:05Z id: HP:0011802 name: Hamartoma of tongue def: "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue." [HPO:probinson, pmid:17667541] -synonym: "Lingual hamartoma" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Lingual hamartoma" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:253753005 xref: UMLS:C0431565 is_a: HP:0100648 ! Neoplasm of the tongue @@ -90900,10 +91096,10 @@ name: Bifid nose def: "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [pmid:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. subset: hposlim_core -synonym: "Bifid nasal bridge" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Cleft nasal bridge" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Cleft nose" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Indented bridge of nose" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bifid nasal bridge" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Cleft nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Cleft nose" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Indented bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:C535441 xref: SNOMEDCT_US:204521002 xref: UMLS:C0221363 @@ -90928,7 +91124,7 @@ id: HP:0011805 name: Abnormality of muscle morphology alt_id: HP:0003735 def: "A structural abnormality of a skeletal muscle." [HPO:probinson] -synonym: "Abnormally shaped muscle" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally shaped muscle" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Issue with muscle structure" EXACT layperson [] xref: UMLS:C4023181 is_a: HP:0003011 ! Abnormality of the musculature @@ -90948,7 +91144,7 @@ creation_date: 2012-04-26T12:05:14Z id: HP:0011808 name: Decreased patellar reflex def: "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [HPO:probinson] -synonym: "Decreased knee jerk reflex" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Decreased knee jerk reflex" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Decreased patellar reflexes" EXACT [HPO:skoehler] xref: UMLS:C3277184 is_a: HP:0002600 ! Hyporeflexia of lower limbs @@ -90979,7 +91175,7 @@ creation_date: 2012-04-28T02:50:12Z id: HP:0011811 name: Impaired touch localization def: "A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip." [HPO:probinson] -synonym: "Impaired topognosis" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Impaired topognosis" EXACT [ORCID:0000-0001-6908-9849] synonym: "Impaired touch localisation" EXACT HP:0045076 [] xref: UMLS:C4021120 is_a: HP:0011730 ! Abnormality of central sensory function @@ -91016,7 +91212,7 @@ creation_date: 2012-04-28T03:38:52Z [Term] id: HP:0011815 name: Cephalocele -def: "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect." [HPO:probinson] {name="PMID:24931720"} +def: "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect." [HPO:probinson, PMID:24931720] comment: A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). xref: MSH:D004677 xref: SNOMEDCT_US:253101008 @@ -91063,8 +91259,8 @@ name: Submucous cleft soft palate def: "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [HPO:probinson] comment: Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties. subset: hposlim_core -synonym: "Partial thickness cleft soft palate" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Submucous cleft velum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Partial thickness cleft soft palate" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Submucous cleft velum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023175 is_a: HP:0000185 ! Cleft soft palate created_by: peter @@ -91084,14 +91280,14 @@ id: HP:0011821 name: Abnormality of facial skeleton def: "An abnormality of one or more of the set of bones that make up the facial skeleton." [DDD:awilkie] comment: The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. -synonym: "Abnormality of facial bones" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of facial skeleton" EXACT layperson [] -synonym: "Anomaly of facial bones" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of facial skeleton" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of facial skeleton" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the facial bones" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of facial bones" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of facial skeleton" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of facial skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of facial skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:433096001 xref: UMLS:C2315229 is_a: HP:0000929 ! Abnormality of the skull @@ -91104,8 +91300,8 @@ name: Broad chin def: "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [pmid:19125436] subset: hposlim_core synonym: "Broad chin" EXACT layperson [] -synonym: "Increased width of chin" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of menton region" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Increased width of chin" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of menton region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide chin" EXACT layperson [] xref: UMLS:C4023172 is_a: HP:0000306 ! Abnormality of the chin @@ -91120,8 +91316,8 @@ synonym: "Chin with horizontal crease" EXACT layperson [] synonym: "Chin with horizontal furrow" EXACT [] synonym: "Chin with horizontal groove" EXACT layperson [] synonym: "Chin with horizontal sulcus" EXACT [] -synonym: "Horizontal chin skin cleft" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Horizontal menton crease" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Horizontal chin skin cleft" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Horizontal menton crease" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023171 is_a: HP:0000306 ! Abnormality of the chin created_by: peter @@ -91159,8 +91355,8 @@ name: Philtrum with midline raphe def: "Narrow ridge in the midline of the philtral groove." [pmid:19152422] comment: The ridge may be very subtly elevated. subset: hposlim_core -synonym: "Philtrum with central raphe" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Philtrum with midline ridge" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Philtrum with central raphe" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Philtrum with midline ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum, midline raphe" EXACT [] xref: UMLS:C4021118 is_a: HP:0000288 ! Abnormality of the philtrum @@ -91173,9 +91369,9 @@ name: Malaligned philtral ridges def: "Absence of the usual parallel position of philtral ridges." [pmid:19152422] comment: Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term. subset: hposlim_core -synonym: "Asymmetric philtral columns" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Asymmetric philtral ridges" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Malaligned philtral columns" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Asymmetric philtral columns" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Asymmetric philtral ridges" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Malaligned philtral columns" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtral Ridges, Malaligned" EXACT [] xref: UMLS:C4021117 is_a: HP:0000288 ! Abnormality of the philtrum @@ -91188,7 +91384,7 @@ name: Midline sinus of philtrum def: "Pit in the midline of the philtral groove." [pmid:19152422] comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. subset: hposlim_core -synonym: "Central sinus of philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Central sinus of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum, Midline Sinus" EXACT [] xref: UMLS:C4021116 is_a: HP:0000288 ! Abnormality of the philtrum @@ -91201,12 +91397,12 @@ name: Narrow philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum." [pmid:19152422] comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. subset: hposlim_core -synonym: "Decreased breadth of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased horizontal dimension of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased transverse dimension of philtrum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased breadth of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased horizontal dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased transverse dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum, Narrow" EXACT [] -synonym: "Thin philtrum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Thin philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021115 is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter @@ -91217,9 +91413,9 @@ id: HP:0011830 name: Abnormality of oral mucosa def: "Abnormality of the oral mucosa." [HPO:probinson] subset: hposlim_core -synonym: "Abnormality of lining of mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of mucosa of mouth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of oral mucous membrane" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of lining of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of mucosa of mouth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023170 is_a: HP:0000163 ! Abnormality of the oral cavity created_by: peter @@ -91230,13 +91426,13 @@ id: HP:0011831 name: Deviated nasal tip def: "Nasal tip positioned to one side of the midline." [pmid:19152422] comment: There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip. -synonym: "Asymmetry of nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Asymmetry of tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Crooked nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Crooked tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Asymmetry of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Asymmetry of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Crooked tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deviated nasal tip" EXACT layperson [] -synonym: "Deviated tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Distortion of the nasal tip" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Deviated tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Distortion of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal tip, deviated" EXACT [] xref: UMLS:C4021114 xref: UMLS:C4280271 @@ -91251,13 +91447,13 @@ def: "Decrease in width of the nasal tip." [pmid:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. subset: hposlim_core synonym: "Narrow nasal tip" EXACT layperson [] -synonym: "Narrow tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Narrow tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal tip, narrow" EXACT layperson [] synonym: "Nasal tip, pinched" EXACT layperson [] synonym: "Pinched nasal tip" EXACT layperson [] -synonym: "Pinched tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Pinched tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249331008 xref: UMLS:C0426433 is_a: HP:0000436 ! Abnormality of the nasal tip @@ -91271,8 +91467,8 @@ def: "Positioning of the nasal tip inferior to the nasal base." [pmid:19152422] comment: This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately. subset: hposlim_core synonym: "Drooping nasal tip" EXACT layperson [] -synonym: "Hooked tip of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Low hanging nasal tip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hooked tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Low hanging nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal tip, overhanging" EXACT layperson [] synonym: "Overhanging nasal tip" EXACT layperson [] xref: SNOMEDCT_US:249328007 @@ -91296,7 +91492,7 @@ id: HP:0011835 name: Absent scaphoid def: "Congenital absence of the scaphoid.." [DDD:jcampbell] synonym: "Absent scaphoid bone" RELATED [HPO:skoehler] -synonym: "Missing scaphoid bone" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Missing scaphoid bone" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1847189 is_a: HP:0004231 ! Carpal bone aplasia created_by: peter @@ -91372,7 +91568,7 @@ creation_date: 2012-05-06T06:46:54Z id: HP:0011842 name: Abnormality of skeletal morphology def: "An abnormality of the form, structure, or size of the skeletal system." [HPO:probinson] -synonym: "Abnormally shaped skeletal" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally shaped skeletal" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023165 is_a: HP:0000924 ! Abnormality of the skeletal system created_by: peter @@ -91400,7 +91596,7 @@ creation_date: 2012-05-07T08:12:26Z id: HP:0011845 name: Short second metatarsal def: "Short (hypoplastic) second metatarsal bone." [HPO:probinson] -synonym: "Short 2nd long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023162 is_a: HP:0010743 ! Short metatarsal is_a: HP:0040034 ! Abnormality of the second metatarsal bone @@ -91447,7 +91643,7 @@ id: HP:0011849 name: Abnormal bone ossification def: "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." [HPO:probinson, PMID:18157903] comment: All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. -synonym: "Abnormal bone maturation" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] xref: MP:0008271 "Abnormal bone ossification" xref: UMLS:C4023161 xref: UMLS:C4280317 @@ -91501,7 +91697,7 @@ creation_date: 2012-05-21T10:49:08Z id: HP:0011854 name: Hemoperitoneum def: "Accumulation of blood in the peritoneal cavity owing to internal hemorrhage." [HPO:probinson] -synonym: "Hematoperitoneum" RELATED [orcid.org/0000-0001-6908-9849] +synonym: "Hematoperitoneum" RELATED [ORCID:0000-0001-6908-9849] xref: MSH:D006465 xref: SNOMEDCT_US:443826006 xref: SNOMEDCT_US:45626005 @@ -91515,7 +91711,7 @@ creation_date: 2012-05-21T10:55:34Z id: HP:0011855 name: Pharyngeal edema def: "Abnormal accumulation of fluid leading to swelling of the pharynx." [HPO:probinson] -synonym: "Throat swelling" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Throat swelling" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:2129002 xref: UMLS:C0236024 is_a: HP:0000600 ! Abnormality of the pharynx @@ -91604,7 +91800,7 @@ name: Abnormal sternal ossification alt_id: HP:0006624 def: "Any anomaly in the formation of the bony substance of the sternum." [HPO:probinson] comment: The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. -synonym: "Abnormal maturation of breastbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of breastbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sternal ossification center abnormalities" EXACT [] xref: UMLS:C1860243 is_a: HP:0000766 ! Abnormality of the sternum @@ -91703,7 +91899,7 @@ creation_date: 2012-05-30T08:31:16Z id: HP:0011875 name: Abnormal platelet morphology def: "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson] -synonym: "Abnormal shape of platelets" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of platelets" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0855742 is_a: HP:0001872 ! Abnormal thrombocyte morphology created_by: peter @@ -91800,7 +91996,7 @@ creation_date: 2012-06-02T10:25:45Z id: HP:0011885 name: Hemorrhage of the eye def: "Bleeding from vessels of the various tissues of the eye." [DDD:akelly] -synonym: "Bleeding from the eye" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bleeding from the eye" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Haemorrhage of the eye" RELATED [] xref: MSH:D005130 xref: SNOMEDCT_US:417244000 @@ -91869,7 +92065,7 @@ creation_date: 2012-06-02T11:33:38Z id: HP:0011891 name: Post-partum hemorrhage def: "Significant maternal haemorrhage/blood loss following deilvery of a child." [DDD:akelly] -synonym: "Bleeding poost-delivery" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bleeding poost-delivery" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Post-partum haemorrhage" EXACT [] xref: MSH:D006473 xref: SNOMEDCT_US:47821001 @@ -91892,7 +92088,7 @@ creation_date: 2012-06-02T05:21:14Z id: HP:0011893 name: Abnormal leukocyte count def: "Number of leukocytes per volume of blood beyond normal limits." [HPO:probinson] -synonym: "Abnormal white blood cell count" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal white blood cell count" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:165509000 xref: UMLS:C0580531 is_a: HP:0001881 ! Abnormal leukocyte morphology @@ -91933,7 +92129,7 @@ creation_date: 2012-06-03T03:11:41Z id: HP:0011897 name: Neutrophilia def: "Increased number of neutrophils circulating in blood." [DDD:akelly] -synonym: "Increased blood neutrophil counts" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased blood neutrophil counts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023140 is_a: HP:0011991 ! Abnormal neutrophil count created_by: peter @@ -92052,7 +92248,7 @@ id: HP:0011909 name: Flattened metacarpal heads def: "Abnormally flat shape of the heads of the metacarpal bones." [HPO:probinson] comment: The metacarpal heads articulate with the proximal phalanges of the fingers. -synonym: "Flattened head of long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flattened head of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023134 is_a: HP:0005916 ! Abnormal metacarpal morphology created_by: peter @@ -92062,7 +92258,7 @@ creation_date: 2012-06-03T10:23:40Z id: HP:0011910 name: Shortening of all phalanges of fingers def: "Abnormal reduction in length affecting all phalanges." [HPO:probinson] -synonym: "Shortening of all finger bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shortening of all finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023133 is_a: HP:0009803 ! Short phalanx of finger created_by: peter @@ -92130,9 +92326,9 @@ id: HP:0011917 name: Short 5th toe def: "Underdevelopment (hypoplasia) of the fifth toe." [HPO:probinson] synonym: "Short fifth toe" EXACT [] -synonym: "Short little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021111 is_a: HP:0001831 ! Short toe created_by: peter @@ -92143,7 +92339,7 @@ id: HP:0011918 name: Clinodactyly of the 4th toe def: "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "4th toe clinodactyly" RELATED [] -synonym: "Curvature of 4th toe" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of 4th toe" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020740 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010338 ! Deviation of the 4th toe @@ -92257,7 +92453,7 @@ creation_date: 2012-06-10T09:18:42Z id: HP:0011928 name: Short proximal phalanx of toe def: "Developmental hypoplasia (shortening) of proximal phalanx of toe." [HPO:probinson] -synonym: "Short innermost toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023123 is_a: HP:0001831 ! Short toe is_a: HP:0010184 ! Abnormality of toe proximal phalanx @@ -92277,8 +92473,8 @@ creation_date: 2012-06-10T10:49:28Z [Term] id: HP:0011930 name: Hyperextensible skin of chest -synonym: "Hyperelastic chest skin" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Stretchable chest skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Hyperelastic chest skin" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Stretchable chest skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021836 is_a: HP:0007458 ! Focal hyperextensible skin created_by: peter @@ -92352,8 +92548,8 @@ creation_date: 2012-06-10T04:20:17Z id: HP:0011937 name: Hypoplastic fifth toenail def: "Underdeveloped nails of the fifth toes." [HPO:probinson] -synonym: "Small fifth toenail" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped fifth toenail" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small fifth toenail" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped fifth toenail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023116 is_a: HP:0001800 ! Hypoplastic toenails created_by: peter @@ -92363,7 +92559,7 @@ creation_date: 2012-06-10T04:27:42Z id: HP:0011939 name: 3-4 finger cutaneous syndactyly def: "A soft tissue continuity in the A/P axis between fingers 4 and 4." [HPO:probinson] -synonym: "Webbed 3rd-4th finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Webbed 3rd-4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023115 is_a: HP:0010554 ! Cutaneous finger syndactyly created_by: peter @@ -92529,7 +92725,7 @@ synonym: "Partial nodular transformation of liver" EXACT [] xref: SNOMEDCT_US:65860006 xref: SNOMEDCT_US:715140008 xref: UMLS:C1318485 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2012-06-21T09:06:10Z @@ -92538,8 +92734,8 @@ id: HP:0011955 name: Hepatic granulomatosis def: "The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes." [HPO:probinson] xref: UMLS:C4023110 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002955 ! Granulomatosis +is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2012-06-21T09:11:32Z @@ -92548,7 +92744,7 @@ id: HP:0011956 name: Intestinal lymphoid nodular hyperplasia def: "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [HPO:probinson, pmid:21481240] xref: UMLS:C4023109 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology created_by: peter creation_date: 2012-06-21T09:27:07Z @@ -92556,7 +92752,7 @@ creation_date: 2012-06-21T09:27:07Z id: HP:0011957 name: Abnormality of the pectoral muscle def: "An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major." [HPO:probinson] -synonym: "Abnormal pec muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal pec muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023108 is_a: HP:0009131 ! Abnormality of the musculature of the thorax created_by: peter @@ -92567,8 +92763,8 @@ id: HP:0011958 name: Retinal perforation def: "A small hole through the whole thickness of the retina." [HPO:probinson] comment: Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes. -synonym: "Retinal tear" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Torn retina" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Retinal tear" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Torn retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012167 xref: SNOMEDCT_US:232003005 xref: SNOMEDCT_US:302888003 @@ -92583,8 +92779,8 @@ creation_date: 2012-07-07T11:24:39Z id: HP:0011959 name: Unilateral hypoplasia of pectoralis major muscle def: "Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest." [HPO:probinson] -synonym: "Small pec muscle on one side" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped pec muscle on one side" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small pec muscle on one side" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped pec muscle on one side" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023107 is_a: HP:0011957 ! Abnormality of the pectoral muscle created_by: peter @@ -92659,7 +92855,7 @@ creation_date: 2012-07-18T08:23:22Z id: HP:0011967 name: Hypocupremia def: "A reduced concentration of copper in the blood." [HPO:probinson] -synonym: "Copper deficiency" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Copper deficiency" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:19577007 xref: UMLS:C0268070 is_a: HP:0010836 ! Abnormality of copper homeostasis @@ -92725,7 +92921,7 @@ id: HP:0011972 name: Hypoglycorrhachia def: "Abnormally low glucose concentration content in the cerebrospinal fluid." [HPO:probinson] synonym: "Decreased CSF glucose" EXACT [] -synonym: "Low glucose levels in cerebral spinal fluid" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low glucose levels in cerebral spinal fluid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0598121 is_a: HP:0025454 ! Abnormal CSF metabolite level created_by: peter @@ -92852,7 +93048,7 @@ name: Acholic stools alt_id: HP:0200112 def: "Clay colored stools lacking bile pigment." [HPO:probinson] synonym: "Acholia" EXACT [] -synonym: "Clay colored stools" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Clay colored stools" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Discolored, acholic stools" EXACT [] xref: SNOMEDCT_US:70396004 xref: UMLS:C2675627 @@ -92878,7 +93074,7 @@ creation_date: 2012-07-19T10:38:25Z id: HP:0011987 name: Ectopic ossification in muscle tissue def: "Formation of abnormal bony tissue within muscle tissue." [HPO:probinson] -synonym: "Calcification of muscle tissue" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Calcification of muscle tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023096 is_a: HP:0011986 ! Ectopic ossification created_by: peter @@ -92944,8 +93140,9 @@ creation_date: 2012-07-19T11:01:32Z id: HP:0011994 name: Abnormal atrial septum morphology def: "An abnormality of the interatrial septum." [HPO:probinson] -synonym: "Abnormal interatrial septum morphology" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal interatrial septum morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the atrial septum" EXACT [] +xref: Fyler:2002 xref: SNOMEDCT_US:253363004 xref: UMLS:C0344722 is_a: HP:0001671 ! Abnormal cardiac septum morphology @@ -93189,6 +93386,8 @@ creation_date: 2012-07-20T12:02:59Z id: HP:0012019 name: Lens luxation def: "Complete dislocation of the lens of the eye." [HPO:probinson] +synonym: "Dislocated lens" EXACT layperson [ORCID:0000-0002-6548-5200] +synonym: "Dislocated lenses" EXACT layperson [] xref: MSH:D007906 xref: UMLS:C0023309 is_a: HP:0001083 ! Ectopia lentis @@ -93201,6 +93400,7 @@ name: Right aortic arch def: "Aorta descends on right instead of on the left." [HPO:probinson] comment: The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm. synonym: "Right-sided aortic arch" EXACT [] +xref: Fyler:2720 xref: SNOMEDCT_US:111321007 xref: SNOMEDCT_US:244229003 xref: UMLS:C0035615 @@ -93233,7 +93433,7 @@ creation_date: 2012-07-26T10:16:40Z id: HP:0012023 name: Galactosuria def: "Elevated concentration of galactose in the urine." [HPO:probinson] -synonym: "Increased urinary galactose level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased urinary galactose level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:71690006 xref: UMLS:C0268157 is_a: HP:0004915 ! Impairment of galactose metabolism @@ -93268,7 +93468,7 @@ creation_date: 2012-07-26T10:48:59Z id: HP:0012026 name: Hyperornithinemia def: "Increased concentration of ornithine in the blood." [HPO:probinson] -synonym: "High blood ornithine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood ornithine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015799 xref: SNOMEDCT_US:276426004 xref: SNOMEDCT_US:33985005 @@ -93317,7 +93517,7 @@ creation_date: 2012-07-27T01:29:51Z id: HP:0012030 name: Increased urinary cortisol level def: "Abnormally increased concentration of cortisol in the urine." [HPO:probinson] -synonym: "High urine cortisol level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine cortisol level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023068 is_a: HP:0002919 ! Ketonuria is_a: HP:0012029 ! Abnormality of urine hormone level @@ -93399,7 +93599,7 @@ creation_date: 2012-07-27T01:51:24Z id: HP:0012037 name: Pectoralis amyotrophy def: "Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor." [HPO:probinson] -synonym: "Wasting of pec muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wasting of pec muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023066 is_a: HP:0003202 ! Skeletal muscle atrophy is_a: HP:0011957 ! Abnormality of the pectoral muscle @@ -93510,7 +93710,7 @@ creation_date: 2012-08-01T12:24:31Z id: HP:0012047 name: Hemeralopia def: "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [HPO:probinson] -synonym: "Day blindness" EXACT layperson [orcid.org/0000-0001-5208-3432, orcid.org/0000-0001-5889-4463] +synonym: "Day blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D014786 xref: SNOMEDCT_US:399323001 xref: UMLS:C0018975 @@ -93545,7 +93745,7 @@ creation_date: 2012-08-01T12:34:41Z id: HP:0012050 name: Anasarca def: "An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space." [HPO:probinson] -synonym: "Extreme generalized edema" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Extreme generalized edema" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D004487 xref: SNOMEDCT_US:16740003 xref: SNOMEDCT_US:442433009 @@ -93559,7 +93759,7 @@ id: HP:0012051 name: Reactive hypoglycemia def: "Hypoglycermia following a meal (or more generally, after intake of glucose)." [HPO:probinson] comment: Reactive hypoglycemia may be the result of an exaggerated insulin response. -synonym: "Low blood sugar after a meal" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood sugar after a meal" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Postprandial hypoglycemia" EXACT [] xref: MSH:D007003 xref: SNOMEDCT_US:237638000 @@ -93746,7 +93946,7 @@ id: HP:0012067 name: Glycopeptiduria def: "Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues." [HPO:probinson] comment: This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties. -synonym: "High urine glycopeptide levels" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "High urine glycopeptide levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023061 is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis created_by: hecht @@ -93756,7 +93956,7 @@ creation_date: 2012-08-04T03:03:03Z id: HP:0012068 name: Aspartylglucosaminuria def: "Excretion of excess amounts of aspartylglucosamine in the urine." [HPO:probinson] -synonym: "High urine aspartylglucosamine levels" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "High urine aspartylglucosamine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D054880 xref: SNOMEDCT_US:54954004 xref: UMLS:C0268225 @@ -93934,7 +94134,7 @@ creation_date: 2012-08-20T03:19:54Z id: HP:0012085 name: Pyuria def: "Presence of an increased number of neutrophils in the urine." [HPO:probinson] -synonym: "High urine neutrophil count" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine neutrophil count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D011776 xref: SNOMEDCT_US:275765006 xref: SNOMEDCT_US:4800001 @@ -93949,7 +94149,7 @@ name: Abnormal urinary color def: "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson] synonym: "Abnormal urinary color" EXACT layperson [] synonym: "Abnormal urinary colour" EXACT layperson [] -synonym: "Abnormal urine color" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal urine color" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:102867009 xref: SNOMEDCT_US:167239007 xref: UMLS:C0522153 @@ -93973,7 +94173,7 @@ def: "A deviation from the normal odor of the urine." [HPO:probinson] comment: Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. synonym: "Abnormal urinary odor" EXACT layperson [] synonym: "Abnormal urinary odour" EXACT layperson [] -synonym: "Abnormal urine smell" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal urine smell" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:8769003 xref: UMLS:C0278045 is_a: HP:0003110 ! Abnormality of urine homeostasis @@ -93984,7 +94184,7 @@ creation_date: 2012-08-20T09:13:26Z id: HP:0012089 name: Arteritis def: "Arterial inflammation." [HPO:probinson] -synonym: "Inflammation of artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001167 xref: SNOMEDCT_US:52089001 xref: UMLS:C0003860 @@ -93995,7 +94195,7 @@ creation_date: 2012-08-20T09:15:19Z [Term] id: HP:0012090 name: Abnormality of pancreas morphology -synonym: "Abnormally shaped pancreas" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally shaped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023049 is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter @@ -94171,7 +94371,7 @@ alt_id: HP:0200082 def: "Increased width of the cross sectional diameter of the fibula." [HPO:probinson, MP:0008159] synonym: "Thick fibula" EXACT [] synonym: "Thick fibulae" EXACT [] -synonym: "Wide calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wide calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide fibula" EXACT [] xref: UMLS:C4021100 is_a: HP:0002991 ! Abnormality of fibula morphology @@ -94263,8 +94463,8 @@ synonym: "Liver inflammation" EXACT layperson [] xref: MSH:D006505 xref: SNOMEDCT_US:128241005 xref: UMLS:C0019158 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0012649 ! Increased inflammatory response +is_a: HP:0410042 ! Abnormal liver morphology created_by: hecht creation_date: 2012-09-16T05:03:29Z @@ -94283,7 +94483,7 @@ id: HP:0012117 name: Hyperalbuminemia def: "Elevation in the concentration of albumin in the blood." [HPO:probinson] synonym: "High albumin" BROAD layperson [] -synonym: "High blood albumin levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood albumin levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperalbuminaemia" EXACT [] xref: SNOMEDCT_US:119248009 xref: UMLS:C1142113 @@ -94321,7 +94521,7 @@ id: HP:0012120 name: Methylmalonic aciduria def: "Increased concentration of methylmalonic acid in the urine." [HPO:probinson] comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. -synonym: "High blood methylmalonic acid levels" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "High blood methylmalonic acid levels" EXACT [ORCID:0000-0001-5208-3432] synonym: "Methymalonicaciduria" EXACT [] xref: MSH:C537358 xref: UMLS:C1855119 @@ -94354,7 +94554,7 @@ creation_date: 2012-09-16T06:24:32Z id: HP:0012123 name: Posterior uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [HPO:probinson] -synonym: "Choroiditis" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Choroiditis" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D002833 xref: MSH:D015866 xref: SNOMEDCT_US:16553002 @@ -94403,7 +94603,7 @@ creation_date: 2012-09-16T06:45:29Z id: HP:0012127 name: Uraciluria def: "Increased concentration of uracil in the urine." [HPO:probinson] -synonym: "High urine uracil levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine uracil levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021833 is_a: HP:0004353 ! Abnormality of pyrimidine metabolism created_by: hecht @@ -94644,7 +94844,7 @@ name: Hypotriglyceridemia def: "An decrease in the level of triglycerides in the blood." [HPO:probinson] synonym: "Decreased circulating Tg levels" EXACT HP:0045077 [] synonym: "Decreased plasma Tg levels" EXACT HP:0045077 [] -synonym: "Low blood triglyceride levels" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Low blood triglyceride levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0542037 is_a: HP:0045014 ! Hypolipidemia created_by: peter @@ -94674,7 +94874,7 @@ synonym: "Reduced corneal sensation" EXACT [] xref: SNOMEDCT_US:373433005 xref: UMLS:C0271292 xref: UMLS:C0859996 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: hecht creation_date: 2013-01-04T08:36:10Z @@ -94928,11 +95128,11 @@ creation_date: 2013-02-23T10:05:33Z id: HP:0012179 name: Craniofacial dystonia def: "A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia." [HPO:probinson] -synonym: "Abnormal craniofacial muscle tone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal craniofacial posture" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal facial muscle tone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Distorted craniofacial posture" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Facial Dystonia" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal craniofacial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormal craniofacial posture" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormal facial muscle tone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Distorted craniofacial posture" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Facial Dystonia" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C1851915 xref: UMLS:C4023011 xref: UMLS:C4072883 @@ -95295,14 +95495,15 @@ alt_id: HP:0004726 alt_id: HP:0004735 alt_id: HP:0008712 def: "Any structural anomaly of the kidney." [HPO:probinson] -synonym: "Abnormal kidney morphology" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Abnormally shaped kidney" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal kidney morphology" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Abnormally shaped kidney" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Kidney malformation" EXACT layperson [] synonym: "Kidney structure issue" EXACT layperson [] synonym: "Renal malformation" EXACT [] synonym: "Structural anomalies of the renal tract" EXACT [] synonym: "Structural kidney abnormalities" EXACT layperson [] synonym: "Structural renal anomalies" EXACT [] +xref: Fyler:4512 xref: SNOMEDCT_US:44513007 xref: UMLS:C0266292 is_a: HP:0000077 ! Abnormality of the kidney @@ -95317,7 +95518,7 @@ alt_id: HP:0000087 alt_id: HP:0005566 alt_id: HP:0008646 def: "An abnormal functionality of the kidney." [HPO:probinson] -synonym: "Abnormal kidney function" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal kidney function" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal renal function" EXACT [HPO:skoehler] synonym: "Abnormality of renal physiology" EXACT [] synonym: "Kidney function issue" EXACT layperson [] @@ -95475,20 +95676,20 @@ id: HP:0012225 name: Oligodontia of primary teeth def: "Reduced number of primary teeth." [HPO:probinson] comment: Primary teeth are also called temporary teeth or deciduous teeth. -synonym: "Decreased number of baby teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased number of deciduous teeth" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Decreased number of milk teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased number of primary teeth" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of some deciduous teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of some primary teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Fewer baby teeth than normal" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Fewer deciduous teeth than normal" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Fewer primary teeth than normal" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing some baby teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing some milk teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing some primary teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Partial anodontia of deciduous teeth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Partial anodontia of primary teeth" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Decreased number of baby teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased number of deciduous teeth" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Decreased number of milk teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased number of primary teeth" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of some deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of some primary teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Fewer baby teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Fewer deciduous teeth than normal" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Fewer primary teeth than normal" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing some baby teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing some milk teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing some primary teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Partial anodontia of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Partial anodontia of primary teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022997 xref: UMLS:C4280316 is_a: HP:0000677 ! Oligodontia @@ -95558,7 +95759,7 @@ creation_date: 2013-03-31T09:20:35Z [Term] id: HP:0012231 name: Exudative retinal detachment -def: "A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium." [HPO:probinson, UManchester:psergouniotis] +def: "A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium." [HPO:probinson, ORCID:0000-0003-0986-4123] synonym: "Serous retinal detachment" EXACT [] xref: SNOMEDCT_US:38599001 xref: UMLS:C0154822 @@ -95625,7 +95826,7 @@ creation_date: 2013-03-31T09:50:28Z id: HP:0012237 name: Urocanic aciduria def: "An increased concentration of urocanic acid in the urine." [HPO:probinson] -synonym: "High urine urocanic acid levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High urine urocanic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C536479 xref: SNOMEDCT_US:60952007 xref: UMLS:C0268514 @@ -95788,6 +95989,7 @@ creation_date: 2013-04-07T09:03:06Z id: HP:0012252 name: Abnormal respiratory system morphology def: "A structural anomaly of the respiratory system." [HPO:probinson] +xref: Fyler:4235 xref: UMLS:C4022992 is_a: HP:0002086 ! Abnormality of the respiratory system created_by: peter @@ -96038,7 +96240,7 @@ creation_date: 2013-04-07T03:02:33Z id: HP:0012277 name: Hypoglycinemia def: "An abnormally reduced concentration of glycine in the blood." [HPO:probinson] -synonym: "Low blood glycine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022973 is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010895 ! Abnormality of glycine metabolism @@ -96058,7 +96260,7 @@ creation_date: 2013-04-07T03:57:10Z id: HP:0012279 name: Hyposerinemia def: "Reduced concentration of serine in the blood." [HPO:probinson] -synonym: "Low blood serine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood serine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022971 is_a: HP:0012278 ! Abnormality of serine metabolism created_by: peter @@ -96070,8 +96272,8 @@ name: Hepatic amyloidosis def: "A form of amyloidosis that affects the liver." [HPO:probinson] xref: SNOMEDCT_US:9551004 xref: UMLS:C0267839 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0011034 ! Amyloidosis +is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2013-04-07T03:59:46Z @@ -96103,7 +96305,7 @@ creation_date: 2013-04-07T10:11:58Z id: HP:0012283 name: Small distal femoral epiphysis def: "Reduced size of the Distal epiphysis of femur." [HPO:probinson] -synonym: "Small end part of outermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022970 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis created_by: peter @@ -96113,8 +96315,8 @@ creation_date: 2013-04-09T07:33:19Z id: HP:0012284 name: Small proximal tibial epiphyses def: "Reduced size of the proximal epiphysis of the tibia." [HPO:probinson] -synonym: "Small end part of innermost shankbone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of innermost shinbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of innermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of innermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022969 is_a: HP:0010585 ! Small epiphyses is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis @@ -96139,7 +96341,7 @@ name: Abnormal hypothalamus morphology alt_id: HP:0002443 def: "Any structural anomaly of the hypothalamus." [HPO:probinson] comment: The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. -synonym: "Abnormal shape of hypothalamus" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of hypothalamus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of hypothalamus morphology" EXACT [] synonym: "Abnormality of the hypothalamus" EXACT [] xref: UMLS:C4021095 @@ -96161,7 +96363,7 @@ id: HP:0012288 name: Neoplasm of head and neck def: "A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx." [HPO:probinson] synonym: "Head and neck cancer" RELATED [] -synonym: "Head and neck tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Head and neck tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006258 xref: SNOMEDCT_US:255055008 xref: SNOMEDCT_US:255056009 @@ -96175,7 +96377,7 @@ creation_date: 2013-04-11T05:44:24Z id: HP:0012289 name: Facial neoplasm def: "A tumor (abnormal growth of tissue) of the face." [HPO:probinson] -synonym: "Face tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Face tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005153 xref: SNOMEDCT_US:126632002 xref: UMLS:C0015461 @@ -96187,7 +96389,7 @@ creation_date: 2013-04-11T05:46:35Z id: HP:0012290 name: Mouth neoplasm def: "A tumor (abnormal growth of tissue) of the mouth." [HPO:probinson] -synonym: "Mouth tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Mouth tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009062 xref: SNOMEDCT_US:126797001 xref: SNOMEDCT_US:235075007 @@ -96209,11 +96411,11 @@ id: HP:0012292 name: Fusion of gums def: "A congenital defect with an abnormal joining of the gums of the upper and lower jaw." [HPO:probinson, pmid:19858676] synonym: "Fusion of gums" EXACT layperson [] -synonym: "Fusion of the gingiva" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Gingival synechia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Partial fusion of the gums" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Synechia of the gums" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Upper and lower gums fused together" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fusion of the gingiva" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Gingival synechia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Partial fusion of the gums" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Synechia of the gums" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Upper and lower gums fused together" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022966 is_a: HP:0000168 ! Abnormality of the gingiva created_by: peter @@ -96241,7 +96443,7 @@ creation_date: 2013-04-11T06:21:12Z id: HP:0012295 name: Slender middle phalanx of finger def: "Reduced diameter of the middle phalanx of finger." [HPO:probinson] -synonym: "Slender middle bone of finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slender middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022963 is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: peter @@ -96251,7 +96453,7 @@ creation_date: 2013-04-12T05:40:22Z id: HP:0012296 name: Slender distal phalanx of finger def: "Reduced diameter of the distal phalanx of finger." [HPO:probinson] -synonym: "Slender outermost bone of finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slender outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022962 is_a: HP:0009832 ! Abnormality of the distal phalanx of finger created_by: peter @@ -96261,7 +96463,7 @@ creation_date: 2013-04-12T05:42:46Z id: HP:0012297 name: Slender proximal phalanx of finger def: "Reduced diameter of the proximal phalanx of finger." [HPO:probinson] -synonym: "Slender innermost bone of finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Slender innermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022961 is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: peter @@ -96271,7 +96473,7 @@ creation_date: 2013-04-12T05:45:35Z id: HP:0012298 name: Long middle phalanx of finger def: "Increased length of the middle phalanx of finger." [HPO:probinson] -synonym: "Long middle bone of finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Long middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022960 is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: peter @@ -96281,7 +96483,7 @@ creation_date: 2013-04-12T05:46:43Z id: HP:0012299 name: Long distal phalanx of finger def: "Increased length of the distal phalanx of finger." [HPO:probinson] -synonym: "Long outermost bone of finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Long outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021865 is_a: HP:0009832 ! Abnormality of the distal phalanx of finger created_by: peter @@ -96327,6 +96529,7 @@ id: HP:0012303 name: Abnormal aortic arch morphology def: "An anomaly of the arch of aorta." [HPO:probinson] synonym: "Abnormality of the aortic arch" EXACT [] +xref: Fyler:2700 xref: SNOMEDCT_US:448742006 xref: UMLS:C3163801 is_a: HP:0001679 ! Abnormal aortic morphology @@ -96338,7 +96541,8 @@ id: HP:0012304 name: Hypoplastic aortic arch def: "Underdevelopment of the arch of aorta." [HPO:probinson] synonym: "Aortic arch hypoplasia" EXACT [] -synonym: "Underdeveloped aortic arch" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped aortic arch" EXACT layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:2704 xref: SNOMEDCT_US:60787001 xref: UMLS:C0265881 is_a: HP:0012303 ! Abnormal aortic arch morphology @@ -96359,7 +96563,7 @@ creation_date: 2013-08-06T10:34:15Z id: HP:0012306 name: Abnormal rib ossification def: "An anomaly of the process of rib bone formation." [HPO:probinson] -synonym: "Abnormal maturation of rib bones" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of rib bones" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022957 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0003336 ! Abnormal enchondral ossification @@ -96417,7 +96621,7 @@ creation_date: 2013-08-10T12:07:14Z id: HP:0012311 name: Monocytosis def: "An increased number of circulating monocytes." [HPO:probinson] -synonym: "High blood monocyte number" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood monocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:19636003 xref: UMLS:C0085702 is_a: HP:0012310 ! Abnormal monocyte count @@ -96428,7 +96632,7 @@ creation_date: 2013-08-10T12:09:16Z id: HP:0012312 name: Monocytopenia def: "An decreased number of circulating monocytes." [HPO:probinson] -synonym: "Low blood monocyte number" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood monocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:165539005 xref: UMLS:C0427544 is_a: HP:0012310 ! Abnormal monocyte count @@ -96967,7 +97171,7 @@ id: HP:0012364 name: Decreased urinary potassium def: "A decreased concentration of potassium(1+) in the urine." [HPO:probinson] synonym: "Hypokaluria" EXACT [] -synonym: "Low urine potassium levels" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Low urine potassium levels" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:54781007 xref: UMLS:C0268024 is_a: HP:0012598 ! Abnormal urine potassium concentration @@ -96978,7 +97182,7 @@ creation_date: 2013-10-03T10:21:51Z id: HP:0012365 name: Hypophosphaturia def: "An abnormally decreased phosphate concentration in the urine." [HPO:probinson] -synonym: "Low urine phosphate levels" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Low urine phosphate levels" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:91632005 xref: UMLS:C0268077 is_a: HP:0012599 ! Abnormal urine phosphate concentration @@ -97013,8 +97217,8 @@ comment: A useful guide is to imagine that a line connecting the glabella to the subset: hposlim_core synonym: "Flat face" EXACT layperson [] synonym: "Flat facial profile" EXACT [HPO:skoehler] -synonym: "Flat facial shape" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Flat facies" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Flat facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Flat facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1853241 is_a: HP:0001999 ! Abnormal facial shape created_by: peter @@ -97023,12 +97227,12 @@ creation_date: 2013-10-13T01:49:13Z [Term] id: HP:0012369 name: Abnormality of malar bones -def: "An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla." [HPO:probinson, orcid.org/0000-0001-5889-4463, pmid:19125436] +def: "An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436] comment: The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. -synonym: "Anomaly of the malar bones" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the malar bones" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malar anomaly" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the malar bones" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the malar bones" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the malar bones" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malar anomaly" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the malar bones" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4022926 is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0010668 ! Abnormality of the zygomatic bone @@ -97038,16 +97242,16 @@ creation_date: 2013-10-13T02:37:51Z [Term] id: HP:0012370 name: Prominence of the zygomatic bone -def: "Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'." [orcid.org/0000-0001-5889-4463, pmid:19125436] -subset: hposlim_core -synonym: "Cheekbone excess" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of cheekbone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of zygomatic bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malar hypertrophy" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominence of cheekbone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Pronounced cheekbone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Zygomatic bone excess" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Zygomatic hypertrophy" NARROW [orcid.org/0000-0001-5889-4463] +def: "Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'." [ORCID:0000-0001-5889-4463, pmid:19125436] +subset: hposlim_core +synonym: "Cheekbone excess" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of cheekbone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of zygomatic bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malar hypertrophy" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominence of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Pronounced cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Zygomatic bone excess" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Zygomatic hypertrophy" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:427888001 xref: UMLS:C0375511 xref: UMLS:C1997760 @@ -97063,12 +97267,12 @@ alt_id: HP:0010279 def: "Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face" [HPO:probinson, pmid:19125436] comment: This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia. subset: hposlim_core -synonym: "Big midface" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of midface" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Large midface" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Big midface" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of midface" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Large midface" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Midface hyperplasia" EXACT [HPO:skoehler] -synonym: "Midfacial excess" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Midfacial prominence" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Midfacial excess" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Midfacial prominence" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of the midface" RELATED layperson [HPO:skoehler] xref: UMLS:C0240309 is_a: HP:0000309 ! Abnormality of the midface @@ -97080,7 +97284,8 @@ id: HP:0012372 name: Abnormal eye morphology def: "A structural anomaly of the eye." [HPO:probinson] synonym: "Abnormal eye morphology" EXACT layperson [] -synonym: "Abnormally shaped eye" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally shaped eye" EXACT layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:4863 xref: UMLS:C4022925 is_a: HP:0000478 ! Abnormality of the eye created_by: peter @@ -97123,7 +97328,7 @@ id: HP:0012376 name: Microphakia def: "Abnormal smallness of the lens." [HPO:probinson] subset: hposlim_core -synonym: "Small lens" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small lens" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:35272001 xref: UMLS:C0266541 is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens @@ -97210,7 +97415,7 @@ id: HP:0012384 name: Rhinitis def: "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson] subset: hposlim_core -synonym: "Nasal inflammation" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Nasal inflammation" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D012220 xref: SNOMEDCT_US:70076002 xref: UMLS:C0035455 @@ -97234,10 +97439,10 @@ creation_date: 2013-10-20T08:08:19Z id: HP:0012386 name: Absent hallux def: "Aplasia of the hallux, that is, a development defect such that the big toe does not develop." [HPO:probinson] -synonym: "Absent big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Agenesis of the halluces" EXACT [] synonym: "Aplasia of the hallux" EXACT [] -synonym: "Missing big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Missing big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1841686 is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux created_by: hecht @@ -97302,7 +97507,7 @@ id: HP:0012392 name: Jaw hyporeflexia def: "Reduced intensity of muscle tendon reflexes in jaw." [HPO:probinson] comment: The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed. -synonym: "Mandibular hyporeflexia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Mandibular hyporeflexia" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022918 is_a: HP:0001265 ! Hyporeflexia is_a: HP:0045037 ! Abnormality of jaw muscles @@ -97362,7 +97567,7 @@ name: Aortic atherosclerosis def: "The presence of atheromas or atherosclerotic plaques in the aorta." [HPO:probinson, pmid:16818829] synonym: "Atherosclerosis of the aorta" EXACT [] synonym: "Atherosclerotic changes of aorta" EXACT [] -synonym: "Plaque build-up in aorta artery" BROAD [orcid.org/0000-0001-5208-3432] +synonym: "Plaque build-up in aorta artery" BROAD [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:81817003 xref: UMLS:C0155733 is_a: HP:0001679 ! Abnormal aortic morphology @@ -97479,7 +97684,7 @@ name: Scissor gait def: "A form of gait abnormality characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use." [HPO:probinson] comment: Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy. synonym: "Scissor gait" EXACT layperson [] -synonym: "Scissor walk" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Scissor walk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Scissors gait" EXACT layperson [HPO:skoehler] xref: MSH:D020233 xref: SNOMEDCT_US:22090007 @@ -97525,7 +97730,7 @@ creation_date: 2013-11-10T11:36:59Z id: HP:0012411 name: Premature pubarche def: "The onset of growth of pubic hair at an earlier age than normal." [HPO:probinson] -synonym: "Premature pubic hair growth" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Premature pubic hair growth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:237815000 xref: UMLS:C0342541 is_a: HP:0000826 ! Precocious puberty @@ -97547,14 +97752,14 @@ creation_date: 2013-11-10T11:58:02Z id: HP:0012413 name: Notched primary central incisor def: "The presence of a V-shaped indentation (notch) in the primary central incisor." [HPO:probinson] -synonym: "Hutchinson's incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hutchinson's sign" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Hutchinson's incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hutchinson's sign" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hutchinson's teeth" RELATED [] -synonym: "Hutchinson-boeck teeth" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Notched front baby tooth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Notched front deciduous tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Notched front primary tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Syphilitic primary incisor" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Hutchinson-boeck teeth" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Notched front baby tooth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Notched front deciduous tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Notched front primary tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Syphilitic primary incisor" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D013590 xref: SNOMEDCT_US:410500004 xref: SNOMEDCT_US:86443005 @@ -97589,7 +97794,7 @@ creation_date: 2013-11-10T04:59:20Z id: HP:0012416 name: Hypercapnia def: "Abnormally elevated blood carbon dioxide (CO2) level." [HPO:probinson] -synonym: "High blood carbon dioxide level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood carbon dioxide level" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypercarbia" EXACT [] xref: MSH:D006935 xref: SNOMEDCT_US:29596007 @@ -97602,8 +97807,8 @@ creation_date: 2013-11-10T05:04:49Z id: HP:0012417 name: Hypocapnia def: "Abnormally reduced blood carbon dioxide (CO2) level." [HPO:probinson] -synonym: "Hypocarbia" EXACT [http://orcid.org/0000-0001-5208-3432, https://en.wikipedia.org/wiki/hypocapnia] -synonym: "Reduced carbon dioxide in the blood" EXACT layperson [http://orcid.org/0000-0001-5208-3432, https://en.wikipedia.org/wiki/hypocapnia] +synonym: "Hypocarbia" EXACT [https://en.wikipedia.org/wiki/hypocapnia, ORCID:0000-0001-5208-3432] +synonym: "Reduced carbon dioxide in the blood" EXACT layperson [https://en.wikipedia.org/wiki/hypocapnia, ORCID:0000-0001-5208-3432] xref: MSH:D016857 xref: SNOMEDCT_US:61031008 xref: UMLS:C0085383 @@ -97616,7 +97821,7 @@ id: HP:0012418 name: Hypoxemia def: "An abnormally low level of blood oxygen." [HPO:probinson] comment: Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. -synonym: "Low blood oxygen level" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low blood oxygen level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D000860 xref: SNOMEDCT_US:389087006 xref: UMLS:C0700292 @@ -97701,7 +97906,7 @@ id: HP:0012425 name: Stercoral ulcer def: "An ulcer of the colon due to pressure and irritation from retained fecal masses." [ORCID:0000-0001-5208-3432, pmid:7065551] comment: Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area. -synonym: "Colon ulcer" BROAD layperson [orcid.org/0000-0001-6908-9849] +synonym: "Colon ulcer" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Recto-sigmoid colon stercoral ulcer" RELATED [] xref: SNOMEDCT_US:235766003 xref: SNOMEDCT_US:38084005 @@ -97749,8 +97954,8 @@ creation_date: 2013-11-12T11:04:49Z id: HP:0012429 name: Aplasia/Hypoplasia of the cerebral white matter def: "Absence or underdevelopment of the cerebral white matter." [HPO:probinson] -synonym: "Absent/small cerebral white matter" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped cerebral white matter" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small cerebral white matter" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped cerebral white matter" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021844 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: peter @@ -97781,7 +97986,8 @@ id: HP:0012432 name: Chronic fatigue def: "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432] comment: Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities. -synonym: "Chronic fatigue" EXACT layperson [] +synonym: "Chronic extreme exhaustion" EXACT layperson [] +synonym: "Chronic fatigue" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C0518656 is_a: HP:0012378 ! Fatigue created_by: peter @@ -97840,7 +98046,7 @@ id: HP:0012437 name: Abnormal gallbladder morphology def: "A structural anomaly of the gallbladder." [HPO:probinson] synonym: "Abnormal gallbladder morphology" EXACT layperson [] -synonym: "Abnormal shape of gallbladder" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022904 is_a: HP:0005264 ! Abnormality of the gallbladder created_by: peter @@ -97903,7 +98109,7 @@ creation_date: 2013-11-23T02:28:07Z id: HP:0012443 name: Abnormality of brain morphology def: "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." [HPO:probinson] -synonym: "Abnormal shape of brain" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of brain" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the brain" EXACT layperson [] xref: UMLS:C4021085 is_a: HP:0002011 ! Morphological abnormality of the central nervous system @@ -97914,8 +98120,8 @@ creation_date: 2013-11-23T02:38:00Z id: HP:0012444 name: Brain atrophy def: "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] -synonym: "Brain degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Brain wasting" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Brain degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Brain wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 @@ -97972,7 +98178,7 @@ id: HP:0012450 name: Chronic constipation def: "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432] synonym: "Chronic constipation" EXACT layperson [] -synonym: "Infrequent bowel movements" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Infrequent bowel movements" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:236069009 xref: UMLS:C0401149 is_a: HP:0002019 ! Constipation @@ -98088,7 +98294,7 @@ id: HP:0012461 name: Bacteriuria def: "The presence of bacteria in the urine." [ORCID:0000-0001-5208-3432] comment: The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection. -synonym: "Bacteria in urine" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bacteria in urine" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "High urine bacteria" EXACT layperson [] xref: MSH:D001437 xref: SNOMEDCT_US:61373006 @@ -98134,7 +98340,7 @@ id: HP:0012465 name: Elevated hepatic iron concentration def: "An increased level of iron in liver tissues." [HPO:probinson, pmid:10922422, pmid:14668426] comment: This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. -synonym: "Increased iron concentration in liver" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased iron concentration in liver" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased liver iron level" EXACT [HPO:skoehler] xref: UMLS:C4022891 is_a: HP:0040134 ! Abnormal hepatic iron concentration @@ -98201,9 +98407,9 @@ id: HP:0012471 name: Thick vermilion border def: "Increased width of the skin of vermilion border region of upper lip." [HPO:probinson] synonym: "Full lips" EXACT layperson [] -synonym: "Increased volume of lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased volume of lip vermillion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Plump lips" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased volume of lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased volume of lip vermillion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Plump lips" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent lips" EXACT layperson [HPO:skoehler] synonym: "Thick lips" EXACT layperson [] xref: UMLS:C1836543 @@ -98216,8 +98422,8 @@ id: HP:0012472 name: Eclabion def: "A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson] synonym: "Eclabium" EXACT [] -synonym: "Everted lips" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Outward turned lips" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Everted lips" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Outward turned lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3550430 is_a: HP:0000159 ! Abnormality of the lip created_by: peter @@ -98228,9 +98434,9 @@ id: HP:0012473 name: Tongue atrophy def: "Wasting of the tongue." [ORCID:0000-0001-5208-3432] synonym: "Atrophy of the tongue" EXACT [] -synonym: "Lingual atrophy" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lingual wasting" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Wasting of the tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lingual atrophy" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lingual wasting" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Wasting of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249382006 xref: SNOMEDCT_US:50805004 xref: UMLS:C0241423 @@ -98244,7 +98450,7 @@ id: HP:0012474 name: Carotid artery occlusion def: "Complete obstruction of a carotid artery." [ORCID:0000-0001-5208-3432] comment: Carotid artery occlusion is usually caused by caused by atherosclerosis. -synonym: "Obstructed carotid artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Obstructed carotid artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:266254007 xref: SNOMEDCT_US:69798007 xref: UMLS:C0265101 @@ -98276,7 +98482,7 @@ creation_date: 2013-11-27T10:28:04Z id: HP:0012477 name: Vocal tremor def: "A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability." [HPO:probinson, pmid:22505778] -synonym: "Shakey voice" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Shakey voice" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Vocal tremor" EXACT layperson [] xref: UMLS:C4022889 is_a: HP:0002345 ! Action tremor @@ -98287,10 +98493,10 @@ creation_date: 2013-11-28T07:11:37Z id: HP:0012478 name: Temporomandibular joint ankylosis def: "Fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening." [ORCID:0000-0001-5208-3432] -synonym: "Adhesion of the temporomandibular joint" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Freezing of jaw joint" EXACT [] {synonymtypedef="layperson"} -synonym: "Freezing of the temporomandibular joint" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Rigidity of the temporomandibular joint" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Adhesion of the temporomandibular joint" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Freezing of jaw joint" EXACT layperson [] +synonym: "Freezing of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Rigidity of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463] synonym: "Temporomandibular joint fusion" EXACT [] xref: MSH:C536957 xref: SNOMEDCT_US:298231004 @@ -98307,17 +98513,17 @@ creation_date: 2013-11-28T07:24:24Z id: HP:0012479 name: Temporomandibular joint crepitus def: "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound." [HPO:probinson] -synonym: "Jaw joint clicking sound" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Jaw joint crepitus" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Jaw joint grating sound" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Jaw joint noise" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Jaw joint popping sound" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Jaw joint sounds" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Temporomandibular joint clicking sound" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Temporomandibular joint grating sound" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Temporomandibular joint noise" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Temporomandibular joint popping sound" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Temporomandibular joint sounds" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Jaw joint clicking sound" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Jaw joint crepitus" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Jaw joint grating sound" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Jaw joint noise" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Jaw joint popping sound" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Jaw joint sounds" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Temporomandibular joint clicking sound" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Temporomandibular joint grating sound" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Temporomandibular joint noise" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Temporomandibular joint popping sound" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Temporomandibular joint sounds" BROAD [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:298377005 xref: UMLS:C0575154 xref: UMLS:C4280313 @@ -98390,7 +98596,7 @@ creation_date: 2013-11-29T07:55:15Z id: HP:0012486 name: Myelitis def: "Inflammation of the spinal cord." [HPO:probinson] -synonym: "Inflammation of spinal cord" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009187 xref: SNOMEDCT_US:41370002 xref: UMLS:C0026975 @@ -98433,8 +98639,8 @@ id: HP:0012490 name: Panniculitis def: "Inflammation of adipose tissue." [HPO:probinson] comment: Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. -synonym: "Inflammation of adipose tissue" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Inflammation of fat tissue" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of adipose tissue" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Inflammation of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015434 xref: SNOMEDCT_US:22125009 xref: UMLS:C0030326 @@ -98457,7 +98663,7 @@ creation_date: 2013-11-29T09:35:44Z id: HP:0012492 name: Cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of a cerebral artery." [ORCID:0000-0001-5208-3432] -synonym: "Narrowing of a cerebral artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of a cerebral artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1504438 is_a: HP:0009145 ! Abnormal cerebral artery morphology created_by: peter @@ -98717,10 +98923,10 @@ creation_date: 2013-12-09T06:49:18Z [Term] id: HP:0012518 -name: Abnormality of circle of Willis +name: Abnormal circle of Willis morphology def: "An anomaly of the circle of Willis, also known as the cerebral arterial circle." [HPO:probinson] comment: The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries. -synonym: "Abnormality of the cerebral arterial circle" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Abnormality of the cerebral arterial circle" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4022868 is_a: HP:0009145 ! Abnormal cerebral artery morphology created_by: peter @@ -98733,7 +98939,7 @@ def: "Underdeveloped posterior communicating artery." [ORCID:0000-0001-5208-3432 comment: The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. synonym: "Hypoplastic posterior communicating arteries" RELATED [] xref: UMLS:C4020720 -is_a: HP:0012518 ! Abnormality of circle of Willis +is_a: HP:0031772 ! Abnormal posterior circulating artery morphology created_by: peter creation_date: 2013-12-09T07:06:12Z @@ -98755,7 +98961,7 @@ creation_date: 2013-12-09T07:17:47Z id: HP:0012521 name: Optic nerve aplasia def: "Congenital absence of the optic nerve." [HPO:probinson] -synonym: "Absent optic nerve" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Absent optic nerve" EXACT [ORCID:0000-0001-6908-9849] synonym: "Aplastic optic nerve" EXACT [] xref: UMLS:C4021084 is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve @@ -98865,6 +99071,7 @@ name: Chronic pain def: "Persistent pain, usually defined as pain that has laster longer than 3 to 6 months." [HPO:probinson, pmid:1875958] comment: Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. synonym: "Chronic pain" EXACT layperson [] +synonym: "Long-lasting pain" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D059350 xref: SNOMEDCT_US:82423001 xref: UMLS:C0150055 @@ -98934,7 +99141,7 @@ id: HP:0012538 name: Gluten intolerance def: "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease." [HPO:probinson] synonym: "Gluten intolerance" EXACT layperson [] -synonym: "Gluten sensitivity" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Gluten sensitivity" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D002446 xref: SNOMEDCT_US:396331005 xref: SNOMEDCT_US:441831003 @@ -98962,7 +99169,7 @@ creation_date: 2013-12-15T10:45:49Z id: HP:0012540 name: Axillary epidermoid cyst def: "An epidermoid cyst in the armpit." [ORCID:0000-0001-5208-3432] -synonym: "Armpit cyst" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Armpit cyst" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022859 is_a: HP:0200040 ! Epidermoid cyst created_by: peter @@ -99095,8 +99302,8 @@ creation_date: 2014-01-01T03:41:24Z id: HP:0012553 name: Hypoplastic thumbnail def: "A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail." [HPO:probinson] -synonym: "Small thumbnail" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped thumbnail" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small thumbnail" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped thumbnail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022850 is_a: HP:0001804 ! Hypoplastic fingernail created_by: peter @@ -99126,7 +99333,7 @@ creation_date: 2014-01-04T01:06:39Z id: HP:0012556 name: Hyperbetaalaninemia def: "Increased concentration of beta-alanine in the blood." [HPO:probinson] -synonym: "High blood beta-alanine levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood beta-alanine levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperbeta-alaninemia" EXACT [] xref: UMLS:C4021080 is_a: HP:0004337 ! Abnormality of amino acid metabolism @@ -99238,10 +99445,10 @@ creation_date: 2014-01-04T02:10:05Z id: HP:0012568 name: Lower eyelid edema def: "Edema in the region of the Lower eyelid." [ORCID:0000-0001-5208-3432] -synonym: "Cellulitis of lower eyelid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Fullness of lower eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Puffiness of lower eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Swelling of lower eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cellulitis of lower eyelid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Fullness of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Puffiness of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Swelling of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:700327003 xref: UMLS:C2025810 xref: UMLS:C3839997 @@ -99253,7 +99460,7 @@ creation_date: 2014-01-04T02:25:56Z id: HP:0012569 name: Delayed menarche def: "First period after the age of 15 years." [HPO:probinson] -synonym: "Delayed start of first period" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Delayed start of first period" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0949173 is_a: HP:0000140 ! Abnormality of the menstrual cycle is_a: HP:0000823 ! Delayed puberty @@ -99265,7 +99472,7 @@ id: HP:0012570 name: Synovial sarcoma def: "A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities." [HPO:probinson] comment: Synovial sarcoma is a high-grade tumor that is associated with poor prognosis. -synonym: "Malignant synovioma" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Malignant synovioma" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D013584 xref: SNOMEDCT_US:302851001 xref: SNOMEDCT_US:63211008 @@ -99386,7 +99593,7 @@ creation_date: 2014-01-16T01:34:27Z id: HP:0012581 name: Solitary renal cyst def: "An isolated cyst of the kidney." [Eurenomics:ewuehl] -synonym: "Simple kidney cyst" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Simple kidney cyst" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:77945009 xref: UMLS:C0268800 xref: UMLS:C4022836 @@ -99408,8 +99615,8 @@ creation_date: 2014-01-16T03:14:35Z id: HP:0012583 name: Unilateral renal hypoplasia def: "One sided hypoplasia of the kidney." [Eurenomics:fschaefer] -synonym: "Small kidney on one side" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped kidney on one side" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small kidney on one side" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped kidney on one side" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:204948009 xref: UMLS:C0431691 is_a: HP:0000089 ! Renal hypoplasia @@ -99430,7 +99637,7 @@ creation_date: 2014-01-16T03:16:03Z id: HP:0012585 name: Renal atrophy def: "Atrophy of the kidney." [HPO:probinson] -synonym: "Kidney degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Kidney degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:197659005 xref: UMLS:C0341698 is_a: HP:0012210 ! Abnormal renal morphology @@ -99441,7 +99648,7 @@ creation_date: 2014-01-16T03:21:19Z id: HP:0012586 name: Bilateral renal atrophy def: "A two-sided form of atrophy of the kidney." [HPO:probinson] -synonym: "Bilateral kidney degeneration" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Bilateral kidney degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022835 is_a: HP:0012585 ! Renal atrophy created_by: peter @@ -99451,8 +99658,8 @@ creation_date: 2014-01-16T03:21:55Z id: HP:0012587 name: Macroscopic hematuria def: "Hematuria that is visible upon inspection of the urine." [HPO:sdoelken] -synonym: "Bloody urine" EXACT layperson [http://orcid.org/0000-0001-6908-9849] -synonym: "Gross hematuria" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Bloody urine" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Gross hematuria" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:197941005 xref: UMLS:C0473237 is_a: HP:0000790 ! Hematuria @@ -99520,7 +99727,7 @@ creation_date: 2014-01-16T05:50:21Z id: HP:0012594 name: Microalbuminuria def: "The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day)." [Eurenomics:fschaefer] -synonym: "High urine albumin levels" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "High urine albumin levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:312975006 xref: UMLS:C0730345 xref: UMLS:C1654921 @@ -99550,7 +99757,7 @@ creation_date: 2014-01-16T05:56:26Z id: HP:0012597 name: Heavy proteinuria def: "Severely increased levels of protein in the urine (1000-3000 mg per day in adults)." [Eurenomics:ewuehl] -synonym: "Severly high blood protein levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Severly high blood protein levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022830 is_a: HP:0000093 ! Proteinuria created_by: peter @@ -99588,7 +99795,7 @@ id: HP:0012601 name: Hypochloriduria def: "An decreased concentration of chloride in the urine." [HPO:probinson] synonym: "Decreased urinary chloride" EXACT [] -synonym: "Low urine chloride levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low urine chloride levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021078 is_a: HP:0012600 ! Abnormal urine chloride concentration created_by: peter @@ -99616,7 +99823,7 @@ creation_date: 2014-01-16T06:19:27Z id: HP:0012604 name: Hyponatriuria def: "An abnormally decreased sodium concentration in the urine." [Eurenomics:ewuehl] -synonym: "Low urine sodium levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low urine sodium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022824 is_a: HP:0012603 ! Abnormal urine sodium concentration created_by: peter @@ -99666,7 +99873,7 @@ id: HP:0012609 name: Hypomagnesiuria def: "An decreased concentration of magnesium the urine." [Eurenomics:fschaefer] synonym: "Decreased urine magnesium" EXACT layperson [] -synonym: "Low urine magnesium levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Low urine magnesium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3203528 is_a: HP:0012607 ! Abnormal urine magnesium concentration created_by: peter @@ -99768,7 +99975,7 @@ creation_date: 2014-01-17T12:15:15Z id: HP:0012619 name: Multiple bladder diverticula def: "Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder." [Eurenomics:fschaefer] -synonym: "Multiple pouches in bladder wall" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Multiple pouches in bladder wall" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022817 is_a: HP:0000015 ! Bladder diverticulum created_by: peter @@ -99864,19 +100071,20 @@ name: Pseudoexfoliation def: "Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor." [HPO:probinson, pmid:23157966] comment: In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork. xref: UMLS:C4022815 -is_a: HP:0004328 ! Abnormality of the anterior segment of the globe +is_a: HP:0004328 ! Abnormal anterior segment morphology created_by: peter creation_date: 2014-01-17T10:50:32Z [Term] id: HP:0012628 -name: Abnormality of the suspensory ligament of lens +name: Abnormal suspensory ligament of lens morphology def: "An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place." [HPO:probinson] -synonym: "Abnormality of zinn's membrane" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, orcid.org/0000-0001-6908-9849] +synonym: "Abnormality of the suspensory ligament of lens" EXACT [] +synonym: "Abnormality of zinn's membrane" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, ORCID:0000-0001-6908-9849] synonym: "Ciliary zonule abnormality" EXACT [] -synonym: "Zonule of zinn abnormality" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, orcid.org/0000-0001-6908-9849] +synonym: "Zonule of zinn abnormality" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, ORCID:0000-0001-6908-9849] xref: UMLS:C4021077 -is_a: HP:0012374 ! Abnormal globe morphology +is_a: HP:0004328 ! Abnormal anterior segment morphology created_by: peter creation_date: 2014-01-17T10:59:37Z @@ -99886,7 +100094,7 @@ name: Phakodonesis def: "Tremulousness (trembling) of the lens of the eye." [HPO:probinson, PMID:5472193] comment: Phacodonesis results from lesions of some or most of the zonular fibres are broken. synonym: "Phacodonesis" EXACT [] -synonym: "Trembling eye lens" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Trembling eye lens" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:116669003 xref: UMLS:C2939415 is_a: HP:0000517 ! Abnormality of the lens @@ -99917,7 +100125,7 @@ creation_date: 2014-01-17T11:15:03Z id: HP:0012632 name: Abnormal intraocular pressure def: "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye." [HPO:probinson] -synonym: "Abnormal eye pressure" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Abnormal eye pressure" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormal intraocular pressure" EXACT layperson [] xref: MP:0005257 "Abnormal intraocular pressure" xref: SNOMEDCT_US:24075007 @@ -99971,7 +100179,7 @@ creation_date: 2014-01-17T11:43:32Z id: HP:0012637 name: Renal calcium wasting def: "High urine calcium in the presence of hypocalcemia." [HPO:probinson] -synonym: "Kidney calcium wasting" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Kidney calcium wasting" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C2673441 is_a: HP:0011280 ! Abnormality of urine calcium concentration created_by: peter @@ -99990,8 +100198,10 @@ creation_date: 2014-01-19T08:02:46Z id: HP:0012639 name: Abnormality of nervous system morphology def: "A structural anomaly of the nervous system." [HPO:probinson] -synonym: "Abnormal nervous system morphology" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Abnormal shape of nervous system" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal nervous system morphology" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Abnormal shape of nervous system" EXACT layperson [ORCID:0000-0001-5208-3432] +xref: Fyler:4135 +xref: Fyler:4300 xref: UMLS:C4022810 is_a: HP:0000707 ! Abnormality of the nervous system created_by: peter @@ -100339,7 +100549,7 @@ id: HP:0012673 name: Aplasia of the upper vagina def: "A failure to develop of the upper vagina." [HPO:probinson] comment: The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia. -synonym: "Absent upper vagina" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent upper vagina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022788 is_a: HP:0003250 ! Aplasia of the vagina created_by: peter @@ -100349,7 +100559,7 @@ creation_date: 2014-02-27T11:00:26Z id: HP:0012674 name: Aplasia of the lower vagina def: "A failure to develop of the lower part of the vagina." [HPO:probinson] -synonym: "Absent lower vagina" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent lower vagina" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Agenesis of the lower vagina" EXACT [] xref: SNOMEDCT_US:253834007 xref: UMLS:C0431646 @@ -100594,7 +100804,7 @@ creation_date: 2014-03-22T06:03:03Z id: HP:0012699 name: Anomaly of lower limb diaphyses def: "A structural abnormality of a diaphysis of the leg." [UToronto:htrang] -synonym: "Anomaly of shaft of long bone of lower limb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Anomaly of shaft of long bone of lower limb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022767 is_a: HP:0006504 ! Anomaly of the limb diaphyses created_by: peter @@ -100719,7 +100929,7 @@ creation_date: 2014-03-23T12:09:47Z id: HP:0012711 name: Delayed ossification of vertebral epiphysis def: "A delay in the process of formation and maturation of the epiphysis of one or more vertebrae." [HPO:probinson] -synonym: "Delayed maturation of the end part of the verebral bone" RELATED layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Delayed maturation of the end part of the verebral bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022759 xref: UMLS:C4280312 is_a: HP:0100569 ! Abnormal vertebral ossification @@ -100750,9 +100960,9 @@ creation_date: 2014-03-23T12:35:59Z id: HP:0012714 name: Severe hearing impairment def: "A severe form of hearing impairment." [HPO:probinson] -synonym: "Severe deafness" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Severe deafness" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Severe hearing impairment" EXACT layperson [] -synonym: "Severe hearing loss" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Severe hearing loss" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:3561000119106 xref: UMLS:C3874334 is_a: HP:0000365 ! Hearing impairment @@ -100799,7 +101009,7 @@ creation_date: 2014-03-23T12:40:51Z id: HP:0012718 name: Morphological abnormality of the gastrointestinal tract def: "Abnormal structure of the gastrointestinal tract." [HPO:probinson] -synonym: "Abnormal shape of the digestive system" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of the digestive system" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Morphological anomaly of the digestive system" EXACT [] xref: UMLS:C4021073 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract @@ -100823,10 +101033,10 @@ name: Neoplasm of the nose alt_id: HP:0100637 def: "Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity." [HPO:probinson] synonym: "Nasal neoplasm" EXACT [] -synonym: "Nasal tumor" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Nasal tumor" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Neoplasia of the nose" EXACT [] synonym: "Nose cancer" EXACT layperson [] -synonym: "Tumor of the nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Tumor of the nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D009669 xref: SNOMEDCT_US:126669004 xref: UMLS:C0028433 @@ -100864,6 +101074,7 @@ id: HP:0012723 name: Sinoatrial block def: "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria." [HPO:probinson] comment: Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography. +xref: Fyler:7014 xref: MSH:D012848 xref: SNOMEDCT_US:65778007 xref: UMLS:C0037188 @@ -100876,9 +101087,9 @@ creation_date: 2014-03-23T01:34:01Z id: HP:0012724 name: Upper eyelid edema def: "Edema in the region of the upper eyelid." [HPO:probinson] -synonym: "Cellulitis of upper eyelid" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cellulitis of upper eyelid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Fullness of upper eyelid" EXACT layperson [] -synonym: "Puffiness of upper eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Puffiness of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Swelling of upper eyelid" EXACT layperson [] xref: SNOMEDCT_US:700339006 xref: UMLS:C2025988 @@ -100902,7 +101113,7 @@ creation_date: 2014-03-23T01:40:45Z id: HP:0012726 name: Episodic hypokalemia def: "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson] -synonym: "Recurrent low potassium" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Recurrent low potassium" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022754 is_a: HP:0002900 ! Hypokalemia created_by: peter @@ -100948,8 +101159,8 @@ id: HP:0012730 name: Aglossia def: "Absence of the tongue owing to a developmental abnormality." [HPO:probinson] synonym: "Absence of tongue" EXACT [] -synonym: "Failure of development of tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing tongue" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of tongue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing tongue" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:74788000 xref: UMLS:C0158663 is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue @@ -100991,7 +101202,7 @@ creation_date: 2014-03-23T02:54:25Z id: HP:0012734 name: Ketotic hypoglycemia def: "Low blood glucose is accompanied by elevated levels of ketone bodies in the body." [HPO:probinson] -synonym: "Ketotic low blood sugar" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Ketotic low blood sugar" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:20825002 xref: UMLS:C0271713 is_a: HP:0001943 ! Hypoglycemia @@ -101040,13 +101251,13 @@ creation_date: 2014-03-23T03:50:25Z id: HP:0012738 name: Agenesis of canine def: "Agenesis of canine tooth." [HPO:probinson] -synonym: "Absence of canine" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of eye tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of canine" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of eye tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absent canines" EXACT layperson [] -synonym: "Failure of development of canine" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of eye tooth" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing canine" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing eye tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of canine" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of eye tooth" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing canine" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing eye tooth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021072 xref: UMLS:C4280311 is_a: HP:0001592 ! Selective tooth agenesis @@ -101059,7 +101270,7 @@ id: HP:0012739 name: Agenesis of the small intestine def: "Failure to develop of the small intestine." [HPO:probinson] synonym: "Small bowel agenesis" EXACT [] -synonym: "Undeveloped small intestine" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Undeveloped small intestine" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021071 is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter @@ -101121,7 +101332,7 @@ id: HP:0012744 name: Femoral aplasia def: "Failure of the femur to develop." [HPO:probinson] synonym: "Absent femur" EXACT [] -synonym: "Absent thighbone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the femur" EXACT [] xref: SNOMEDCT_US:47276000 xref: UMLS:C0265629 @@ -101134,8 +101345,8 @@ id: HP:0012745 name: Short palpebral fissure def: "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] subset: hposlim_core -synonym: "Decreased height of palpebral fissure" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Short opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased height of palpebral fissure" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Short opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short palpebral fissures" EXACT [HPO:skoehler] xref: SNOMEDCT_US:246802000 xref: UMLS:C0423112 @@ -101252,7 +101463,7 @@ creation_date: 2014-04-02T01:07:51Z id: HP:0012757 name: Abnormal neuron morphology def: "A structural anomaly of a neuron." [KI:phemming] -synonym: "Abnormal neuron shape" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal neuron shape" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal neuronal morphology" EXACT [] xref: UMLS:C4022739 is_a: HP:0012639 ! Abnormality of nervous system morphology @@ -101292,8 +101503,8 @@ name: Absent mastoid alt_id: HP:0200110 def: "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent." [HPO:probinson] synonym: "Absent mastoids" EXACT [] -synonym: "Failure of development of mastoid" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Mastoid agenesis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of mastoid" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Mastoid agenesis" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021070 is_a: HP:0000264 ! Abnormality of the mastoid created_by: peter @@ -101482,7 +101693,7 @@ creation_date: 2014-04-07T06:09:19Z id: HP:0012780 name: Neoplasm of the ear def: "A tumor (abnormal growth of tissue) of the ear." [HPO:probinson] -synonym: "Ear tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004428 xref: SNOMEDCT_US:363228008 xref: UMLS:C0013449 @@ -101550,7 +101761,7 @@ id: HP:0012786 name: Recurrent cystitis def: "Repeated infections of the urinary bladder." [HPO:probinson, pmid:20639019] comment: One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months. -synonym: "Recurrent bladder infections" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Recurrent bladder infections" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:197853008 xref: UMLS:C0581366 is_a: HP:0000010 ! Recurrent urinary tract infections @@ -101571,8 +101782,8 @@ creation_date: 2014-04-22T09:24:10Z id: HP:0012788 name: Reticulate pigmentation of oral mucosa def: "A net-like pattern of increased pigmentation of the oral cavity." [HPO:probinson] -synonym: "Mottled pigmentation of oral mucosa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Reticulate pigmentation of oral mucous membrane" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Mottled pigmentation of oral mucosa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Reticulate pigmentation of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1852148 is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa created_by: peter @@ -101583,8 +101794,8 @@ id: HP:0012789 name: Hypoplasia of the calcaneus def: "Underdevelopment of the heel bone." [HPO:probinson] synonym: "Hypoplastic calcaneus" EXACT [] -synonym: "Small heel bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped heel bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Small heel bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped heel bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3550873 is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones is_a: HP:0008364 ! Abnormality of the calcaneus @@ -101605,7 +101816,7 @@ creation_date: 2014-04-24T10:18:31Z id: HP:0012791 name: Abnormal humeral ossification def: "An anomaly of the process of formation of bone in the humerus." [HPO:probinson] -synonym: "Abnormal maturation of long bone in upper arm" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal maturation of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022722 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003336 ! Abnormal enchondral ossification @@ -101669,7 +101880,7 @@ creation_date: 2014-05-24T04:43:52Z id: HP:0012797 name: Lymphatic vessel neoplasm def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723] -synonym: "Lymphatic vessel tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Lymphatic vessel tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D018190 xref: SNOMEDCT_US:115236002 xref: UMLS:C0206619 @@ -101698,12 +101909,12 @@ creation_date: 2014-05-24T05:00:46Z id: HP:0012799 name: Unilateral facial palsy def: "One-sided weakness of the muscles of facial expression and eye closure." [HPO:probinson] -synonym: "Paralysis of one side of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral facial muscle paralysis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral facial muscle weakness" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral facial paralysis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral facial weakness" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Weakness of one side of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Paralysis of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Unilateral facial muscle paralysis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Unilateral facial muscle weakness" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Unilateral facial paralysis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Unilateral facial weakness" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Weakness of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0239516 xref: UMLS:C4022719 is_a: HP:0010628 ! Facial palsy @@ -101715,11 +101926,11 @@ id: HP:0012800 name: Accessory cranial suture def: "A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [HPO:probinson, pmid:20496093] comment: The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures. -synonym: "Accessory fontanelle" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Extra cranial suture" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Extra fontanelle" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Supernumary cranial suture" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Supernumary fontanelle" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Accessory fontanelle" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Extra cranial suture" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Extra fontanelle" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Supernumary cranial suture" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Supernumary fontanelle" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021067 xref: UMLS:C4022927 is_a: HP:0011329 ! Abnormality of cranial sutures @@ -101735,8 +101946,8 @@ synonym: "Narrow jaw" EXACT layperson [] synonym: "Narrow lower face" EXACT layperson [] synonym: "Narrow lower jaw" EXACT layperson [] synonym: "Narrow mandible" EXACT [] -synonym: "Thin lower face" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin lower jaw" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin lower face" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin lower jaw" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021066 xref: UMLS:C4280310 is_a: HP:0000277 ! Abnormality of the mandible @@ -101807,7 +102018,7 @@ name: High insertion of columella def: "Insertion of the posterior columella superior to the nasal base." [pmid:19152422] comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. subset: hposlim_core -synonym: "Ala lower than columella" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Ala lower than columella" BROAD [ORCID:0000-0001-5889-4463] synonym: "Columella, high insertion" EXACT [] xref: UMLS:C4020909 is_a: HP:0009929 ! Abnormality of the columella @@ -101819,13 +102030,13 @@ id: HP:0012808 name: Abnormal nasal base def: "An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] synonym: "Abnormal nasal base" EXACT layperson [] -synonym: "Abnormality of base of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of base of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of nasal base" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of base of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of nasal base" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of base of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of nasal base" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of base of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of nasal base" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of base of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of nasal base" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of base of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of nasal base" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022718 is_a: HP:0000366 ! Abnormality of the nose created_by: hecht @@ -101836,12 +102047,12 @@ id: HP:0012809 name: Narrow nasal base def: "Decreased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] comment: There is a marked difference in width of the nasal base depending on ethnic background. -synonym: "Decreased width of base of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased width of nasal base" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Narrow base of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased width of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased width of nasal base" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Narrow base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow nasal base" EXACT layperson [] -synonym: "Thin base of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Thin nasal base" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thin base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Thin nasal base" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022717 is_a: HP:0012808 ! Abnormal nasal base created_by: hecht @@ -101852,11 +102063,11 @@ id: HP:0012810 name: Wide nasal base def: "Increased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] comment: There is a marked difference in width of the nasal base depending on ethnic background. -synonym: "Broad base of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Broad base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Broad nasal base" EXACT layperson [] -synonym: "Increased width of base of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of nasal base" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Wide base of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased width of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased width of nasal base" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Wide base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide nasal base" EXACT layperson [] xref: UMLS:C1849667 is_a: HP:0012808 ! Abnormal nasal base @@ -101868,15 +102079,15 @@ id: HP:0012811 name: Wide nasal ridge def: "Increased width of the nasal ridge." [HPO:probinson, pmid:19152422] comment: This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose. -synonym: "Broad dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Broad nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Broad dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Broad nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Broad nasal ridge" RELATED layperson [] -synonym: "Increased width of dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased width of nasal ridge" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased width of dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased width of nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased width of nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal ridge, wide" EXACT [] -synonym: "Wide dorsum of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Wide nasal dorsum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Wide dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Wide nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide nasal ridge" EXACT layperson [] xref: UMLS:C4020718 is_a: HP:0011119 ! Abnormality of the nasal dorsum @@ -101888,13 +102099,13 @@ id: HP:0012812 name: Fullness of paranasal tissue def: "Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues." [HPO:probinson, pmid:19152422] comment: This feature is distinct from Wide nasal ridge and Wide nasal bridge. -synonym: "Fullness of tissue around the nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of paranasal tissue" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of paranasal tissue" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Fullness of tissue around the nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of paranasal tissue" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of paranasal tissue" NARROW [ORCID:0000-0001-5889-4463] synonym: "Laterally built up nose" EXACT [] synonym: "Paranasal fullness" EXACT [] -synonym: "Thick paranasal tissue" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Thick tissue around the nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Thick paranasal tissue" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Thick tissue around the nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021065 xref: UMLS:C4280308 xref: UMLS:C4280309 @@ -101906,7 +102117,7 @@ creation_date: 2014-05-25T10:40:06Z id: HP:0012813 name: Unilateral breast hypoplasia def: "Underdevelopment of the breast on one side only." [HPO:probinson] -synonym: "One underdeveloped breast" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "One underdeveloped breast" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844722 is_a: HP:0003187 ! Breast hypoplasia created_by: hecht @@ -101916,7 +102127,7 @@ creation_date: 2014-05-26T08:11:58Z id: HP:0012814 name: Bilateral breast hypoplasia def: "Underdevelopment of the breast on both sides." [HPO:probinson] -synonym: "Two underdeveloped breasts" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Two underdeveloped breasts" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022716 is_a: HP:0003187 ! Breast hypoplasia created_by: hecht @@ -101926,7 +102137,7 @@ creation_date: 2014-05-26T08:12:34Z id: HP:0012815 name: Hypoplastic female external genitalia def: "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)." [HPO:probinson] -synonym: "Underdeveloped female external genitalia" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped female external genitalia" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022715 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0003241 ! External genital hypoplasia @@ -102185,7 +102396,7 @@ creation_date: 2014-06-06T07:27:48Z id: HP:0012839 name: Distal def: "Localized away from the central point of the body." [HPO:probinson] -synonym: "Outermost" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Outermost" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:46053002 xref: UMLS:C0205108 is_a: HP:0012836 ! Spatial pattern @@ -102282,7 +102493,7 @@ creation_date: 2014-06-06T08:09:22Z id: HP:0012848 name: Small intestinal stenosis def: "The narrowing or partial blockage of a portion of the small intestine." [HPO:probinson] -synonym: "Narrowing of small intestine" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of small intestine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0151924 is_a: HP:0002244 ! Abnormality of the small intestine created_by: hecht @@ -102316,7 +102527,7 @@ creation_date: 2014-06-07T09:15:02Z id: HP:0012851 name: Colonic stenosis def: "A narrowing of a segment of colon whereby bowel continuity is maintained." [HPO:probinson] -synonym: "Narrowing of the colon" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of the colon" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stenosis of the colon" EXACT [] xref: SNOMEDCT_US:19132000 xref: SNOMEDCT_US:8543007 @@ -102360,7 +102571,7 @@ def: "Increased pigmentation (skin color) of the scrotum." [HPO:probinson] comment: This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation. synonym: "Hyperpigmentation of the scrotum" EXACT [] synonym: "Hyperpigmented scrotum" EXACT [] -synonym: "Increased pigmentation in scrotum" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Increased pigmentation in scrotum" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021062 is_a: HP:0000045 ! Abnormality of the scrotum created_by: hecht @@ -102431,7 +102642,7 @@ creation_date: 2014-06-09T09:48:37Z id: HP:0012862 name: Abnormal germ cell morphology def: "Any structural anomaly of a reproductive cell." [HPO:probinson] -synonym: "Abnormally shaped of reproductive cell" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormally shaped of reproductive cell" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022704 is_a: HP:0012243 ! Abnormal reproductive system morphology created_by: hecht @@ -102450,7 +102661,7 @@ creation_date: 2014-06-09T10:05:33Z id: HP:0012864 name: Abnormal sperm morphology def: "A structural anomaly of sperm." [HPO:probinson] -synonym: "Abnormal shape of sperm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of sperm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Teratospermia" EXACT [] synonym: "Teratozoospermia" EXACT [] xref: MSH:D000072660 @@ -102547,8 +102758,8 @@ creation_date: 2014-06-09T11:13:37Z id: HP:0012873 name: Absent vas deferens def: "Aplasia (congenital absence) of the vas deferens." [HPO:probinson] -synonym: "Absent deferent duct" EXACT [http://orcid.org/0000-0001-6908-9849] -synonym: "Absent ductus deferens" EXACT [http://orcid.org/0000-0001-6908-9849] +synonym: "Absent deferent duct" EXACT [ORCID:0000-0001-6908-9849] +synonym: "Absent ductus deferens" EXACT [ORCID:0000-0001-6908-9849] synonym: "Congenital absence of the vas deferens" EXACT [] xref: SNOMEDCT_US:300506000 xref: SNOMEDCT_US:5286009 @@ -102636,7 +102847,7 @@ creation_date: 2014-06-11T07:44:31Z id: HP:0012881 name: Abnormality of the labia majora def: "An anomaly of the outer labia." [HPO:probinson] -synonym: "Abnormality of vaginal lips" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022695 is_a: HP:0000058 ! Abnormality of the labia created_by: hecht @@ -102647,7 +102858,7 @@ id: HP:0012882 name: Hyperplastic labia majora def: "Overgrowth of the outer labia." [HPO:probinson] synonym: "Enlarged labia majora" EXACT [] -synonym: "Enlarged vaginal lips" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperplasia of labia majora" EXACT [] xref: UMLS:C4021060 is_a: HP:0012881 ! Abnormality of the labia majora @@ -102669,7 +102880,7 @@ id: HP:0012884 name: Fallopian tube torsion def: "A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation." [HPO:probinson, pmid:24251052] comment: Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube. -synonym: "Twisted fallopian tube" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Twisted fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:46946009 xref: UMLS:C0269169 is_a: HP:0011027 ! Abnormality of the fallopian tube @@ -102745,7 +102956,7 @@ creation_date: 2014-06-23T10:55:41Z id: HP:0012891 name: High posterior hairline def: "Hair on the neck extends less inferiorly than usual." [UToronto:htrang] -synonym: "High hairline at back of head" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "High hairline at back of head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022692 is_a: HP:0030141 ! Abnormality of the posterior hairline created_by: peter @@ -102755,9 +102966,9 @@ creation_date: 2014-06-23T10:57:10Z id: HP:0012892 name: Facial muscle hypertrophy def: "Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [UToronto:htrang] -synonym: "Hyperplasia of facial muscles" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of facial muscles" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased size of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Large facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022691 xref: UMLS:C4280307 is_a: HP:0000301 ! Abnormality of facial musculature @@ -102769,11 +102980,11 @@ creation_date: 2014-06-23T10:58:42Z id: HP:0012893 name: Neck muscle hypertrophy def: "Muscle hypertrophy affecting the muscles of the neck." [UToronto:htrang] -synonym: "Hyperplasia of neck muscles" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of cervical muscles" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of neck muscles" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large neck muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Overgrowth of neck muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hyperplasia of neck muscles" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of cervical muscles" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased size of neck muscles" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Large neck muscles" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Overgrowth of neck muscles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022690 xref: UMLS:C4280306 is_a: HP:0003712 ! Skeletal muscle hypertrophy @@ -102888,7 +103099,7 @@ id: HP:0012905 name: Euryblepharon def: "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening." [HPO:probinson, pmid:15249382, pmid:15530943, pmid:24719364] comment: The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome. -synonym: "Kabuki syndrome eyelids" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Kabuki syndrome eyelids" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:400954002 xref: UMLS:C1303001 xref: UMLS:C4280305 @@ -102947,7 +103158,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:54:00Z xsd:da [Term] id: HP:0020041 name: Double elevator palsy -def: "A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia." [PMID:23479532, UManchester:psergouniotis] +def: "A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia." [ORCID:0000-0003-0986-4123, PMID:23479532] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:09:14Z xsd:dateTime @@ -102955,7 +103166,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:09:14Z xsd:da [Term] id: HP:0020042 name: Double depressor palsy -def: "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye." [UManchester:psergouniotis] +def: "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye." [ORCID:0000-0003-0986-4123] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:12:54Z xsd:dateTime @@ -102963,7 +103174,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:12:54Z xsd:da [Term] id: HP:0020043 name: Vertically incomitant strabismus -def: "A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards." [] {comment="UManchester:psergouniotis"} +def: "A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards." [ORCID:0000-0003-0986-4123] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:14:25Z xsd:dateTime @@ -102978,7 +103189,8 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:14:39Z xsd:da [Term] id: HP:0020045 name: Esodeviation -def: "A manifest or latent ocular deviation in which one or other eye tends to deviate nasally." [] {comment="UManchester:psergouniotis"} +def: "A manifest or latent ocular deviation in which one or other eye tends to deviate nasally." [ORCID:0000-0003-0986-4123] +synonym: "Convergent strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:20:06Z xsd:dateTime @@ -102986,7 +103198,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:20:06Z xsd:da [Term] id: HP:0020046 name: Accommodative esotropia -def: "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex." [UManchester:psergouniotis] +def: "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex." [ORCID:0000-0003-0986-4123] comment: Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. is_a: HP:0000565 ! Esotropia property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string @@ -103011,7 +103223,8 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T14:57:04Z xsd:da [Term] id: HP:0020049 name: Exodeviation -def: "A manifest or latent ocular deviation in which one or other eye tends to deviate temporally." [UManchester:psergouniotis] +def: "A manifest or latent ocular deviation in which one or other eye tends to deviate temporally." [ORCID:0000-0003-0986-4123] +synonym: "Divergent strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T15:01:01Z xsd:dateTime @@ -103029,7 +103242,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T15:05:06Z xsd:da [Term] id: HP:0025004 name: Hallux rigidus -def: "Osteoarthritis of the metatarsophalangeal joint of the first toe." [] {comment="HPO:probinson", comment="PMID:24649409"} +def: "Osteoarthritis of the metatarsophalangeal joint of the first toe." [HPO:probinson, PMID:24649409] comment: Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. synonym: "Arthritis of the big toe" EXACT layperson [] xref: MSH:D020859 @@ -103042,7 +103255,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-06-25T09:23:22Z xsd:da [Term] id: HP:0025005 name: Thickening of glomerular capillary wall -def: "Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself." [] {comment="HPO:probinson", comment="PMID:6879730"} +def: "Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself." [HPO:probinson, PMID:6879730] is_a: HP:0025006 ! Abnormal glomerular capillary morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T22:31:55Z xsd:dateTime @@ -103067,7 +103280,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T23:07:53Z xsd:da [Term] id: HP:0025008 name: Tracheal tug on inspiration -def: "Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree." [] {comment="UToronto:chum"} +def: "Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree." [UToronto:chum] is_a: HP:0002795 ! Functional respiratory abnormality property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T23:22:12Z xsd:dateTime @@ -103122,7 +103335,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-09T11:43:43Z xsd:da [Term] id: HP:0025014 name: Subcutaneous spheroids -def: "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [] {comment="PMID:20847697"} +def: "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [PMID:20847697] comment: This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. is_a: HP:0001482 ! Subcutaneous nodule property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -103164,7 +103377,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:56:48Z xsd:da [Term] id: HP:0025019 name: Arterial rupture -def: "Sudden breakage of an artery leading to leakage of blood from the circulation." [] {comment="HPO:probinson"} +def: "Sudden breakage of an artery leading to leakage of blood from the circulation." [HPO:probinson] is_a: HP:0025323 ! Abnormal arterial physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T12:03:50Z xsd:dateTime @@ -103172,7 +103385,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T12:03:50Z xsd:da [Term] id: HP:0025020 name: Elevated prostate-specific antigen level -def: "An increased concentration of prostate specific antigen (PSA) in the circulation." [] {comment="PMID:26366236"} +def: "An increased concentration of prostate specific antigen (PSA) in the circulation." [PMID:26366236] comment: Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question. is_a: HP:0010876 ! Abnormality of circulating protein level property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -103200,7 +103413,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-22T10:39:06Z xsd:da [Term] id: HP:0025023 name: Rectal atresia -def: "A developmental defect resulting in complete obliteration of the lumen of the rectum. \nThat is, there is an abnormal closure, or atresia of the tubular structure of the \nrectum." [] {comment="HPO:probinson", comment="PMID:20006038"} +def: "A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum." [HPO:probinson, PMID:20006038] synonym: "Atresia of the rectum" EXACT [] is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0011100 ! Intestinal atresia @@ -103210,7 +103423,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:13:58Z xsd:da [Term] id: HP:0025024 name: Megarectum -def: "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or mulscular abnormalities, which remains after disimpaction of the rectum." [] {comment="HPO:probinson", comment="PMID:10869000"} +def: "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or mulscular abnormalities, which remains after disimpaction of the rectum." [HPO:probinson, PMID:10869000] comment: Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. is_a: HP:0002034 ! Abnormality of the rectum property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -103219,7 +103432,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:18:38Z xsd:da [Term] id: HP:0025025 name: Rectovestibular fistula -def: "A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening." [] {comment="HPO:probinson"} +def: "A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening." [HPO:probinson] comment: The condition can cause feces and gas to exit the vaginal vestibule. synonym: "Vestibular fistula" EXACT [] is_a: HP:0100590 ! Rectal fistula @@ -103229,7 +103442,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:49:07Z xsd:da [Term] id: HP:0025026 name: H-type rectovestibular fistula -def: "Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract." [] {comment="PMID:20223314"} +def: "Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract." [PMID:20223314] is_a: HP:0025025 ! Rectovestibular fistula property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:58:54Z xsd:dateTime @@ -103237,7 +103450,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:58:54Z xsd:da [Term] id: HP:0025027 name: Osteoma cutis -def: "The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin." [] {comment="HPO:probinson", comment="PMID:21152797", comment="PMID:26273166"} +def: "The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin." [HPO:probinson, PMID:21152797, PMID:26273166] synonym: "Cutaneous osteosis" EXACT [] synonym: "Miliary osteoma" EXACT [] synonym: "Osteomatosis" EXACT [] @@ -103250,7 +103463,7 @@ id: HP:0025028 name: Abnormality of enteric nervous system morphology def: "A structural anomaly of nerves of the enteric nervous system." [] comment: The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter. -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0012331 ! Abnormal autonomic nervous system morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T11:10:48Z xsd:dateTime @@ -103557,7 +103770,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:10:48Z xsd:da [Term] id: HP:0025068 name: Incomitant strabismus -def: "Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort." [UManchester:psergouniotis] +def: "Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort." [ORCID:0000-0003-0986-4123] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:25:28Z xsd:dateTime @@ -103667,7 +103880,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-10-12T23:40:17Z xsd:da [Term] id: HP:0025081 name: Darier's sign -def: "A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP." [] {comment="PMID:24701633"} +def: "A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP." [PMID:24701633] is_a: HP:0001025 ! Urticaria property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-10-12T23:46:34Z xsd:dateTime @@ -103675,7 +103888,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-10-12T23:46:34Z xsd:da [Term] id: HP:0025082 name: Abnormal cutaneous elastic fiber morphology -def: "Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils." [] {comment="PMID:12082143", comment="PMID:21738362"} +def: "Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils." [PMID:12082143, PMID:21738362] comment: Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362]. is_a: HP:0011121 ! Abnormality of skin morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -104995,7 +105208,7 @@ id: HP:0025236 name: Somnambulism def: "Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated." [PMID:27647645] comment: During an episode of sleepwalking, the sonambulating child typically appears clumsy and might perform unusual actions such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or after leaving the house. -synonym: "Sleep walking" EXACT layperson [orcid.org/0000-0002-0736-9199] +synonym: "Sleep walking" EXACT layperson [ORCID:0000-0002-0736-9199] is_a: HP:0025235 ! Non-rapid eye movement parasomnia property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T12:01:00Z xsd:dateTime @@ -105030,11 +105243,11 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T00:34:43Z xsd:da [Term] id: HP:0025240 name: Preretinal hemorrhage -def: "An accumulation of blood located posterior to the internal limiting membrane (ILM) and anterior to the nerve fiber layer (NFL) of the retina." [] +def: "An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [UManchester:psergouniotis] comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. synonym: "Preretinal haemorrhage" EXACT HP:0045076 [] synonym: "Preretinal heme" EXACT [] -is_a: HP:0000573 ! Retinal hemorrhage +is_a: HP:0031803 ! Fundus hemorrhage property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T00:54:15Z xsd:dateTime @@ -105129,7 +105342,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:56:03Z xsd:da id: HP:0025250 name: Closed comedo def: "A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead." [] -synonym: "Whitehead" EXACT layperson [orcid.org/0000-0002-0736-9199] +synonym: "Whitehead" EXACT layperson [ORCID:0000-0002-0736-9199] is_a: HP:0025249 ! Comedo property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:57:50Z xsd:dateTime @@ -105138,7 +105351,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:57:50Z xsd:da id: HP:0025251 name: Open comedo def: "A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black." [] -synonym: "Blackhead" EXACT layperson [orcid.org/0000-0002-0736-9199] +synonym: "Blackhead" EXACT layperson [ORCID:0000-0002-0736-9199] is_a: HP:0025249 ! Comedo property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:04:52Z xsd:dateTime @@ -105298,7 +105511,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:24:58Z xsd:da id: HP:0025268 name: Stuttering def: "Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds." [] -synonym: "Stammering" EXACT layperson [orcid.org/0000-0002-0736-9199] +synonym: "Stammering" EXACT layperson [ORCID:0000-0002-0736-9199] synonym: "Stuttering" EXACT layperson [] is_a: HP:0002167 ! Neurological speech impairment property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -105572,20 +105785,18 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-12-20T12:31:12Z xsd:da [Term] id: HP:0025303 name: Episodic -def: "Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present." [] +def: "Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present." [] comment: In our definition, episodic is synonymous with internittent and recurrent. The term does not imply any particular temporal pattern of the recurrence. -synonym: "Intermittant" EXACT [] synonym: "Now and then" EXACT layperson [] -synonym: "Recurrent" EXACT [] -is_a: HP:0011008 ! Temporal pattern +is_a: HP:0031796 ! Recurrent property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T00:51:43Z xsd:dateTime [Term] id: HP:0025304 name: Periodic -def: "Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval, i.e., the symptom-free periods are always of the same length." [] -is_a: HP:0025303 ! Episodic +def: "Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length." [] +is_a: HP:0031796 ! Recurrent property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T00:55:09Z xsd:dateTime @@ -105625,7 +105836,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:01:46Z xsd:da id: HP:0025309 name: Abnormal pupil shape def: "A deviation from the normal circular shape of the pupil" [] -synonym: "Irregular pupil" EXACT layperson [orcid.org/0000-0002-0736-9199] +synonym: "Irregular pupil" EXACT layperson [ORCID:0000-0002-0736-9199] is_a: HP:0000615 ! Abnormal pupil morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:08:53Z xsd:dateTime @@ -105970,7 +106181,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:54:52Z xsd:da id: HP:0025348 name: Abnormality of the corneal limbus def: "An anomaly of the margin of the cornea overlapped by the sclera." [] -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T23:58:19Z xsd:dateTime @@ -106037,7 +106248,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:33:08Z xsd:da [Term] id: HP:0025356 name: Pschomotor retardation -comment: A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. {has_synonym_type="PMID:21044654"} +comment: A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. {xref="PMID:21044654"} is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T11:43:42Z xsd:dateTime @@ -106569,7 +106780,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:21:33Z xsd:da [Term] id: HP:0025422 name: Pleural cyst -def: "A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance." [PMID:12162234] {comment="PMID:18493546"} +def: "A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance." [PMID:12162234, PMID:18493546] comment: Pleuropericardial cysts usually are congenital anomalies. after the third week of gestation, the mesoderm separates itself to form pleural, pericardial and peritoneal spaces. Incomplete partitioning can result in a pleuropericardial cyst. is_a: HP:0002103 ! Abnormality of the pleura property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -106602,8 +106813,10 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:48:07Z xsd:da [Term] id: HP:0025426 name: Abnormal bronchus morphology +alt_id: HP:0002109 def: "Any anomaly of the function of the bronchi." [] -is_a: HP:0002109 ! Abnormality of the bronchi +synonym: "Abnormality of the bronchi" EXACT [] +is_a: HP:0005607 ! Abnormal tracheobronchial morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:50:43Z xsd:dateTime @@ -106611,7 +106824,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:50:43Z xsd:da id: HP:0025427 name: Abnormal bronchus physiology def: "Any anomaly of the function of the bronchi." [] -is_a: HP:0002109 ! Abnormality of the bronchi +is_a: HP:0002795 ! Functional respiratory abnormality property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:51:32Z xsd:dateTime @@ -106750,7 +106963,7 @@ id: HP:0025445 name: Morphological abnormality of the papillary muscles def: "Any structural anomaly of the papillary muscles of the left ventricle." [PMID:9034636] comment: There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole. -is_a: HP:0001711 ! Abnormal morphology of the left ventricle +is_a: HP:0001711 ! Abnormal left ventricle morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T10:43:49Z xsd:dateTime @@ -106846,7 +107059,8 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:32:59Z xsd:da id: HP:0025457 name: Decreased CSF total protein def: "CSF total protein level is below the lower limit of normal." [ORCID:0000-0003-0169-8159, PMID:27388694] -synonym: "Low CSF total protein" EXACT [] {comment="HP:0045077"} +synonym: "Decreased cerebrospinal fluid total protein" EXACT [] +synonym: "Low CSF total protein" EXACT HP:0045077 [] is_a: HP:0025456 ! Abnormal CSF protein level property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:34:12Z xsd:dateTime @@ -106855,7 +107069,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:34:12Z xsd:da id: HP:0025458 name: Decreased CSF albumin synonym: "CSF albumin level is below the lower limit of normal." EXACT [ORCID:0000-0003-0169-8159, PMID:27388694] -synonym: "Low CSF albumin" EXACT [] {comment="HP:0045077"} +synonym: "Low CSF albumin" EXACT HP:0045077 [] is_a: HP:0025456 ! Abnormal CSF protein level property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:46:15Z xsd:dateTime @@ -107588,7 +107802,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:29:45Z xsd:da [Term] id: HP:0025549 name: Eccentric visual fixation -def: "A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees." [UManchester:psergouniotis] +def: "A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees." [ORCID:0000-0003-0986-4123] comment: A anomaly in which a part of the retina other than the fovea is used for visual fixation. The fovea usually retains its straight ahead orientation. Eccentric fixation may be present under conditions of viewing with one or both eyes. However, it is more easily diagnosed monocularly (especially if the better eye is covered). synonym: "Eccentric fixation" EXACT [] is_a: HP:0025404 ! Abnormal visual fixation @@ -107599,6 +107813,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:48:35Z xsd:da id: HP:0025550 name: Elevated circulating ribitol concentration def: "An increase above the normal concentration of ribitol in the blood." [] +synonym: "Increased level of ribitol in serum" EXACT [] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:01:59Z xsd:dateTime @@ -107649,7 +107864,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:50:16Z xsd:da [Term] id: HP:0025558 name: Lamellar cataract with riders -def: "Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens." [UManchester:psergouniotis] +def: "Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens." [ORCID:0000-0003-0986-4123] is_a: HP:0007971 ! Lamellar cataract property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-13T12:54:00Z xsd:dateTime @@ -107657,7 +107872,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-13T12:54:00Z xsd:da [Term] id: HP:0025559 name: Coronary cataract -def: "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown." [UManchester:psergouniotis] +def: "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown." [ORCID:0000-0003-0986-4123] is_a: HP:0010920 ! Zonular cataract property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-13T13:04:32Z xsd:dateTime @@ -107665,7 +107880,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-13T13:04:32Z xsd:da [Term] id: HP:0025560 name: Anterior chamber cells -def: "Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117, UManchester:psergouniotis] +def: "Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [ORCID:0000-0003-0986-4123, PMID:16196117] is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:00:02Z xsd:dateTime @@ -107713,7 +107928,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:23:54Z xsd:da [Term] id: HP:0025566 name: Anterior chamber cells grade 4+ -def: "Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [] {comment="PMID:16196117"} +def: "Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117] is_a: HP:0025560 ! Anterior chamber cells property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:24:54Z xsd:dateTime @@ -107755,7 +107970,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:49:33Z xsd:da [Term] id: HP:0025571 name: Christman tree cataract -def: "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree." [] {def="PMID:27190856"} +def: "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree." [PMID:27190856] is_a: HP:0000518 ! Cataract property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:58:00Z xsd:dateTime @@ -107774,7 +107989,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T14:21:45Z xsd:da [Term] id: HP:0025573 name: Mild myopia -def: "A mild form of myopia with up to -3.00 diopters." [] {comment="UManchester:psergouniotis"} +def: "A mild form of myopia with up to -3.00 diopters." [ORCID:0000-0003-0986-4123] is_a: HP:0000545 ! Myopia property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T14:38:05Z xsd:dateTime @@ -107793,6 +108008,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T14:47:24Z xsd:da id: HP:0025575 name: Abnormal superior vena cava morphology def: "Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart." [MP:0006064] +xref: Fyler:2820 is_a: HP:0005345 ! Abnormal vena cava morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:00:56Z xsd:dateTime @@ -107801,6 +108017,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:00:56Z xsd:da id: HP:0025576 name: Abnormal inferior vena cava morphology def: "Any structural anomaly of the principal vein draining blood from the lower portion of the body." [MP:0006063] +xref: Fyler:2810 is_a: HP:0005345 ! Abnormal vena cava morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:02:17Z xsd:dateTime @@ -107809,6 +108026,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:02:17Z xsd:da id: HP:0025578 name: Aortic valve prolapse def: "Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus." [PMID:4015927] +xref: Fyler:1452 is_a: HP:0001646 ! Abnormal aortic valve morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:47:17Z xsd:dateTime @@ -107817,6 +108035,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:47:17Z xsd:da id: HP:0025579 name: Abnormal left atrium morphology def: "Any structural abnormality of the left atrium." [] +xref: Fyler:3010 is_a: HP:0005120 ! Abnormal cardiac atrium morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:54:09Z xsd:dateTime @@ -107825,6 +108044,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:54:09Z xsd:da id: HP:0025580 name: Abnormal right atrium morphology def: "Any structural abnormality of the right atrium." [] +xref: Fyler:1770 is_a: HP:0005120 ! Abnormal cardiac atrium morphology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:56:01Z xsd:dateTime @@ -107832,7 +108052,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:56:01Z xsd:da [Term] id: HP:0025581 name: Foveal hemorrhage -def: "Bleeding occuring within the fovea." [UManchester:psergouniotis] +def: "Bleeding occuring within the fovea." [ORCID:0000-0003-0986-4123] synonym: "Foveal haemorrhage" EXACT HP:0045076 [] is_a: HP:0025574 ! Macular hemmorhage property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107841,7 +108061,8 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:21:30Z xsd:da [Term] id: HP:0025582 name: Submacular hemorrhage -def: "Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [UManchester:psergouniotis] +def: "Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [ORCID:0000-0003-0986-4123] +synonym: "Sub-macular hemorrhage" EXACT [] synonym: "Submacular haemorrhage" EXACT HP:0045076 [] is_a: HP:0025243 ! Subretinal hemorrhage is_a: HP:0025574 ! Macular hemmorhage @@ -107860,7 +108081,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:32:18Z xsd:da [Term] id: HP:0025584 name: Hypotropia -def: "A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open." [UManchester:psergouniotis] +def: "A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open." [ORCID:0000-0003-0986-4123] is_a: HP:0025588 ! Hypodeviation property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:39:59Z xsd:dateTime @@ -107868,7 +108089,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:39:59Z xsd:da [Term] id: HP:0025585 name: Hyperphoria -def: "Tendency for the visual ais of one eye to be higher than that of the other." [UManchester:psergouniotis] +def: "Tendency for the visual ais of one eye to be higher than that of the other." [ORCID:0000-0003-0986-4123] is_a: HP:0025587 ! Hyperdeviation property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:42:23Z xsd:dateTime @@ -107876,7 +108097,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:42:23Z xsd:da [Term] id: HP:0025586 name: Hypertropia -def: "A type of strabismus characterized by permanent upward deviation of the visual axis of one eye." [UManchester:psergouniotis] +def: "A type of strabismus characterized by permanent upward deviation of the visual axis of one eye." [ORCID:0000-0003-0986-4123] is_a: HP:0025587 ! Hyperdeviation property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:44:01Z xsd:dateTime @@ -107884,7 +108105,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:44:01Z xsd:da [Term] id: HP:0025587 name: Hyperdeviation -def: "A type of strabismus in which the visual axis of one eye is higher than that of the other." [UManchester:psergouniotis] +def: "A type of strabismus in which the visual axis of one eye is higher than that of the other." [ORCID:0000-0003-0986-4123] comment: Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions. is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107893,7 +108114,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:45:45Z xsd:da [Term] id: HP:0025588 name: Hypodeviation -def: "A type of strabismus in which the visual axis of one eye is higher than that of the other." [UManchester:psergouniotis] +def: "A type of strabismus in which the visual axis of one eye is higher than that of the other." [ORCID:0000-0003-0986-4123] comment: Hypophoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypotropia is a manifest deviation in which the eyes are not aligned under binocular conditions. is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107902,7 +108123,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:50:55Z xsd:da [Term] id: HP:0025589 name: Cyclodeviation -def: "Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes." [PMID:15731772, UManchester:psergouniotis] +def: "Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes." [ORCID:0000-0003-0986-4123, PMID:15731772] comment: Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern. is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107919,7 +108140,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:11:20Z xsd:da [Term] id: HP:0025591 name: Abnormal superior oblique muscle physiology -def: "A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve." [UManchester:psergouniotis] +def: "A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve." [ORCID:0000-0003-0986-4123] comment: A neurological examination includes assessment of the trochlear nerve (CN IV) which innervates the superior oblique muscle. The test for CN IV function is for the patient to depress and adduct the eye (ie. to look down and in). This movement is impaired in the presence of a trochlear nerve palsy. is_a: HP:0031739 ! Abnormal oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107937,7 +108158,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:17:49Z xsd:da [Term] id: HP:0025593 name: Superior oblique muscle restriction -def: "Mechanical limitation of the range of movement of the superior oblique muscle." [UManchester:psergouniotis] +def: "Mechanical limitation of the range of movement of the superior oblique muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. is_a: HP:0025592 ! Superior oblique muscle weakness property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107946,7 +108167,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:38:29Z xsd:da [Term] id: HP:0025594 name: Superior oblique muscle overaction -def: "An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye." [PMID:11545636, UManchester:psergouniotis] +def: "An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye." [ORCID:0000-0003-0986-4123, PMID:11545636] is_a: HP:0025591 ! Abnormal superior oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:41:15Z xsd:dateTime @@ -107954,7 +108175,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:41:15Z xsd:da [Term] id: HP:0025595 name: Superior oblique muscle underaction -def: "Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy." [] {def="UManchester:psergouniotis"} +def: "Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] synonym: "Under-depression in adduction" EXACT [] is_a: HP:0025592 ! Superior oblique muscle weakness property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107963,7 +108184,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:46:33Z xsd:da [Term] id: HP:0025596 name: Abnormal inferior oblique muscle physiology -def: "A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve." [UManchester:psergouniotis] +def: "A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve." [ORCID:0000-0003-0986-4123] comment: The major functions of the inferior oblique muscle are extorsion (external rotation), elevation, and abduction. is_a: HP:0031739 ! Abnormal oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107972,7 +108193,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:54:37Z xsd:da [Term] id: HP:0025597 name: Inferior oblique muscle restriction -def: "Mechanical limitation of the range of movement of the inferior oblique muscle." [UManchester:psergouniotis] +def: "Mechanical limitation of the range of movement of the inferior oblique muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produces by primary muscle weakness, extraocular muscle restriction cannot move passively any more than actively. is_a: HP:0025598 ! Inferior oblique muscle weakness property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107981,7 +108202,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:15:59Z xsd:da [Term] id: HP:0025598 name: Inferior oblique muscle weakness -def: "Decreased strength of the inferior oblique muscle." [UManchester:psergouniotis] +def: "Decreased strength of the inferior oblique muscle." [ORCID:0000-0003-0986-4123] synonym: "Inferior oblique palsy" EXACT [] is_a: HP:0025596 ! Abnormal inferior oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -107990,7 +108211,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:23:31Z xsd:da [Term] id: HP:0025599 name: Inferior oblique muscle overaction -def: "A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye." [PMID:11545636, UManchester:psergouniotis] +def: "A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye." [ORCID:0000-0003-0986-4123, PMID:11545636] is_a: HP:0025596 ! Abnormal inferior oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:25:58Z xsd:dateTime @@ -107998,7 +108219,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:25:58Z xsd:da [Term] id: HP:0025600 name: Abnormal inferior rectus muscle physiology -def: "A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye." [UManchester:psergouniotis] +def: "A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye." [ORCID:0000-0003-0986-4123] is_a: HP:0031748 ! Abnormal vertical rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:31:55Z xsd:dateTime @@ -108006,7 +108227,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:31:55Z xsd:da [Term] id: HP:0025601 name: Inferior rectus muscle weakness -def: "Decreased strength of the inferior rectus muscle." [UManchester:psergouniotis] +def: "Decreased strength of the inferior rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0025600 ! Abnormal inferior rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:23:13Z xsd:dateTime @@ -108014,7 +108235,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:23:13Z xsd:da [Term] id: HP:0025602 name: Inferior rectus muscle restriction -def: "Mechanical limitation of the range of movement of the inferior rectus muscle." [UManchester:psergouniotis] +def: "Mechanical limitation of the range of movement of the inferior rectus muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. is_a: HP:0025601 ! Inferior rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -108023,7 +108244,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:24:32Z xsd:da [Term] id: HP:0025603 name: Abnormal superior rectus muscle physiology -def: "A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe." [UManchester:psergouniotis] +def: "A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe." [ORCID:0000-0003-0986-4123] is_a: HP:0031748 ! Abnormal vertical rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:28:02Z xsd:dateTime @@ -108038,15 +108259,19 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:31:31Z xsd:da [Term] id: HP:0025605 -name: Lid lag -is_a: HP:0012373 ! Abnormal eye physiology +name: Lid lag on downgaze +def: "Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign." [ORCID:0000-0003-0986-4123] +synonym: "Eyelid lag" EXACT [] +synonym: "Lid lag" EXACT [] +synonym: "von Graefe sign" RELATED [] +is_a: HP:0031785 ! Abnormal eyelid movement property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:37:21Z xsd:dateTime [Term] id: HP:0025606 name: Abnormal medial rectus muscle physiology -def: "A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball." [UManchester:psergouniotis] +def: "A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball." [ORCID:0000-0003-0986-4123] is_a: HP:0031740 ! Abnormal horizontal rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:41:09Z xsd:dateTime @@ -108054,7 +108279,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:41:09Z xsd:da [Term] id: HP:0025607 name: Upper eyelid entropion -def: "An inward turning (inversion) of the margin of the upper eyelid." [UManchester:psergouniotis] +def: "An inward turning (inversion) of the margin of the upper eyelid." [ORCID:0000-0003-0986-4123] is_a: HP:0000621 ! Entropion property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:44:13Z xsd:dateTime @@ -108062,7 +108287,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:44:13Z xsd:da [Term] id: HP:0025608 name: Cicatricial ectropion -def: "An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring." [UManchester:psergouniotis] +def: "An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring." [ORCID:0000-0003-0986-4123] comment: Cicatricial ectropion may occur owing to burns, lacerations, or infection of the skin of the eyelid. is_a: HP:0000656 ! Ectropion property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string @@ -108071,7 +108296,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:49:08Z xsd:da [Term] id: HP:0025609 name: Anterior blepharitis -def: "A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles." [UManchester:psergouniotis] +def: "A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles." [ORCID:0000-0003-0986-4123] is_a: HP:0000498 ! Blepharitis property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:52:54Z xsd:dateTime @@ -108079,7 +108304,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:52:54Z xsd:da [Term] id: HP:0025610 name: Posterior blepharitis -def: "A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia." [UManchester:psergouniotis] +def: "A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia." [ORCID:0000-0003-0986-4123] synonym: "Meibomian gland disease" RELATED [] synonym: "Meibomian gland dysfunction" EXACT [] is_a: HP:0000498 ! Blepharitis @@ -108089,7 +108314,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:53:43Z xsd:da [Term] id: HP:0025611 name: Epicanthus superciliaris -def: "A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye)." [UManchester:psergouniotis] +def: "A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye)." [ORCID:0000-0003-0986-4123] is_a: HP:0000286 ! Epicanthus property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:58:02Z xsd:dateTime @@ -108097,7 +108322,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:58:02Z xsd:da [Term] id: HP:0025612 name: Corneal astigmatism -def: "A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea." [UManchester:psergouniotis] +def: "A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea." [ORCID:0000-0003-0986-4123] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/creator HPO:probinson xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T23:06:10Z xsd:dateTime @@ -108114,8 +108339,8 @@ id: HP:0030001 name: Lagopthalmos def: "A condition in which the eyelids do not close to cover the eye completely." [] comment: Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function. -synonym: "Eyelids stay open" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Inability to close the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelids stay open" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Inability to close the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: pmid:20590416 xref: UMLS:C4022680 is_a: HP:0000492 ! Abnormal eyelid morphology @@ -108125,8 +108350,8 @@ id: HP:0030002 name: Nocturnal lagophthalmos def: "The inability to close the eyelids during sleep." [] comment: Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies. -synonym: "Eyelids stay open at night" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Inability to close the eyelids at night" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelids stay open at night" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Inability to close the eyelids at night" EXACT layperson [ORCID:0000-0001-5889-4463] xref: pmid:16671223 xref: SNOMEDCT_US:417740005 xref: UMLS:C1563118 @@ -108146,8 +108371,8 @@ is_a: HP:0030001 ! Lagopthalmos id: HP:0030004 name: Cicatricial lagophthalmos def: "A type of lagophthalmos that occurs following trauma or surgery." [] -synonym: "Eyelids stay open due to scarring" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Inability to close the eyelids due to scarring" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelids stay open due to scarring" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Inability to close the eyelids due to scarring" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:9042000 xref: UMLS:C0155199 is_a: HP:0030001 ! Lagopthalmos @@ -108187,7 +108412,7 @@ is_a: HP:0003482 ! EMG: axonal abnormality id: HP:0030008 name: Cervical agenesis def: "Congenital absence of the cervix." [] -synonym: "Absent cervix" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent cervix" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the cervix" EXACT [] synonym: "Cervical aplasia" EXACT [] xref: SNOMEDCT_US:37687000 @@ -108286,7 +108511,7 @@ is_a: HP:0030014 ! Female sexual dysfunction id: HP:0030018 name: Decreased female libido def: "Dminished sexual desire in female." [] -synonym: "Decreased female sex drive" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased female sex drive" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022676 is_a: HP:0030014 ! Female sexual dysfunction @@ -108294,7 +108519,7 @@ is_a: HP:0030014 ! Female sexual dysfunction id: HP:0030019 name: Increased female libido def: "Elevated sexual desire in female" [] -synonym: "Increased female sex drive" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased female sex drive" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022675 is_a: HP:0030014 ! Female sexual dysfunction @@ -108332,7 +108557,7 @@ name: Pretragal ectopia def: "Variably shaped, cartilage-containing tissue anterior to the external auditory meatus." [eom:095679c21044c851] comment: Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia. synonym: "Accessory Tragus" RELATED [] -synonym: "Extra cartilage in front of the ear" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Extra cartilage in front of the ear" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Pretragal Duplication" RELATED [] xref: SNOMEDCT_US:204245004 xref: UMLS:C0266609 @@ -108358,14 +108583,14 @@ is_a: HP:0011039 ! Abnormality of the helix id: HP:0030027 name: Abnormality of the nasal cartilage def: "A morphological anomaly of the nasal cartilage." [] -synonym: "Abnormality of cartilage of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal cartilage" EXACT layperson [] -synonym: "Anomaly of cartilage of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of nasal cartilage" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of cartilage of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of nasal cartilage" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of cartilage of nose" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of nasal cartilage" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of cartilage of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of nasal cartilage" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of cartilage of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of nasal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of cartilage of nose" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of nasal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022670 is_a: HP:0010938 ! Abnormality of the external nose @@ -108374,14 +108599,14 @@ id: HP:0030028 name: Absent nasal cartilage def: "Lack of a palpable nasal cartilage." [eom:73e4e8bb2eec316d, pmid:19152422] comment: This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately. -synonym: "Absent cartilage of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absent cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absent nasal cartilage" EXACT layperson [] -synonym: "Agenesis of cartilage of nose" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of nasal cartilage" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of cartilage of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of nasal cartilage" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing cartilage of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing nasal cartilage" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of cartilage of nose" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of nasal cartilage" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of nasal cartilage" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing nasal cartilage" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C562753 xref: SNOMEDCT_US:232381002 xref: UMLS:C4022669 @@ -108507,7 +108732,7 @@ is_a: HP:0003468 ! Abnormal vertebral morphology id: HP:0030042 name: Incomplete ossification of pubis def: "Failure to complete ossification (maturation and calcification) of the pubic bone." [] -synonym: "Incomplete maturation of the public bone" RELATED layperson [orcid.org/0000-0001-5208-3432] +synonym: "Incomplete maturation of the public bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:373940002 xref: UMLS:C0685678 is_a: HP:0009105 ! Abnormal ossification of the pubic bone @@ -108516,7 +108741,7 @@ is_a: HP:0009105 ! Abnormal ossification of the pubic bone id: HP:0030043 name: Hip subluxation def: "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket." [] -synonym: "Partial hip dislocation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial hip dislocation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Subluxation involving the hip joint" EXACT [] xref: SNOMEDCT_US:263057000 xref: UMLS:C0434785 @@ -108533,7 +108758,7 @@ is_a: HP:0001371 ! Flexion contracture id: HP:0030045 name: Serpentine fibula def: "Elongated curved (S-shaped) fibulae." [] -synonym: "S-shaped calf bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "S-shaped calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: pmid:21712856 xref: pmid:3409932 xref: UMLS:C3805325 @@ -108602,7 +108827,7 @@ is_a: HP:0001288 ! Gait disturbance id: HP:0030052 name: Inguinal freckling def: "The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] -synonym: "Freckles in groin region" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Freckles in groin region" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834297 is_a: HP:0001480 ! Freckling @@ -108783,8 +109008,8 @@ is_a: HP:0030070 ! Central primitive neuroectodermal tumor id: HP:0030072 name: Paranasal sinus neoplasm def: "A tumor that originates in the paranasal sinus." [] -synonym: "Neoplasm of the paranasal sinuses" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Tumor of the paranasal sinuses" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Neoplasm of the paranasal sinuses" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Tumor of the paranasal sinuses" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D010255 xref: SNOMEDCT_US:126675008 xref: UMLS:C0030470 @@ -108835,7 +109060,7 @@ def: "A tumor originating in a bronchus." [] xref: MSH:D001984 xref: SNOMEDCT_US:126705004 xref: UMLS:C0006264 -is_a: HP:0002109 ! Abnormality of the bronchi +is_a: HP:0025426 ! Abnormal bronchus morphology is_a: HP:0100526 ! Neoplasm of the lung [Term] @@ -108899,7 +109124,7 @@ is_a: HP:0100738 ! Abnormal eating behavior id: HP:0030084 name: Clinodactyly def: "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] -synonym: "Curvature of digit" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of digit" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:17268007 xref: UMLS:C0265610 xref: UMLS:C4280304 @@ -109318,9 +109543,9 @@ is_a: HP:0001892 ! Abnormal bleeding id: HP:0030140 name: Oral cavity bleeding def: "Recurrent or excessive bleeding from the mouth." [HPO:cmiller] -synonym: "Bleeding from mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bleeding from mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Oral cavity bleeding" EXACT layperson [] -synonym: "Oral cavity hemorrhage" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Oral cavity hemorrhage" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022608 is_a: HP:0000163 ! Abnormality of the oral cavity is_a: HP:0001892 ! Abnormal bleeding @@ -109329,7 +109554,7 @@ is_a: HP:0001892 ! Abnormal bleeding id: HP:0030141 name: Abnormality of the posterior hairline def: "An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not." [HPO:probinson] -synonym: "Abnormality of hairline at back of head" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of hairline at back of head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022607 is_a: HP:0009553 ! Abnormality of the hairline @@ -109346,7 +109571,7 @@ is_a: HP:0011458 ! Abdominal symptom id: HP:0030143 name: Hyperactive bowel sounds def: "An increased amount of bowel sounds." [HPO:probinson] -synonym: "Increased bowel sounds" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bowel sounds" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:18101008 xref: UMLS:C0232694 is_a: HP:0030142 ! Abnormal bowel sounds @@ -109355,7 +109580,7 @@ is_a: HP:0030142 ! Abnormal bowel sounds id: HP:0030144 name: Hypoactive bowel sounds def: "An decreased amount of bowel sounds." [HPO:probinson] -synonym: "Decreased bowel sounds" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased bowel sounds" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:15280003 xref: UMLS:C0232695 is_a: HP:0030142 ! Abnormal bowel sounds @@ -109439,7 +109664,7 @@ replaced_by: HP:0100574 id: HP:0030153 name: Cholangiocarcinoma def: "Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension." [HPO:probinson, pmid:18536057, pmid:8268770] -synonym: "Bile duct cancer" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Bile duct cancer" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D018281 xref: SNOMEDCT_US:312104005 xref: SNOMEDCT_US:70179006 @@ -109504,7 +109729,7 @@ is_a: HP:0012888 ! Abnormality of the uterine cervix id: HP:0030159 name: Cervical polyp def: "Abnormal growth of tissue projecting from a mucous membrane of the endocervix." [HPO:probinson, pmid:21270291] -synonym: "Cervical tumor" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Cervical tumor" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D002583 xref: SNOMEDCT_US:123841004 xref: SNOMEDCT_US:65576009 @@ -109518,7 +109743,7 @@ name: Cervicitis def: "Inflammation of the uterine cervix." [HPO:probinson, pmid:21270291] comment: Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology. synonym: "Uterine cervicitis" EXACT [] -synonym: "Uterine cervix inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uterine cervix inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D002575 xref: SNOMEDCT_US:37610005 xref: UMLS:C0007860 @@ -109553,7 +109778,7 @@ is_a: HP:0011025 ! Abnormality of cardiovascular system physiology id: HP:0030164 name: Jaw claudication def: "Pain in the jaw or ear induced by chewing or otherwise moving the jaw." [HPO:probinson, pmid:12972467] -synonym: "Jaw pain while chewing" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Jaw pain while chewing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:43922008 xref: UMLS:C0239064 is_a: HP:0025323 ! Abnormal arterial physiology @@ -109718,7 +109943,7 @@ is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex id: HP:0030185 name: Isometric tremor def: "An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist)." [HPO:probinson, pmid:21404980] -synonym: "Dystonia tremor" RELATED [orcid.org/0000-0001-6908-9849] +synonym: "Dystonia tremor" RELATED [ORCID:0000-0001-6908-9849] xref: UMLS:C4022594 xref: UMLS:C4280303 is_a: HP:0002345 ! Action tremor @@ -109727,7 +109952,7 @@ is_a: HP:0002345 ! Action tremor id: HP:0030186 name: Kinetic tremor def: "Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor." [] -synonym: "Essential tremor" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Essential tremor" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D014202 xref: MSH:D020329 xref: SNOMEDCT_US:30721006 @@ -109748,7 +109973,7 @@ is_a: HP:0002345 ! Action tremor id: HP:0030188 name: Tremor by anatomical site def: "Tremor classified by the affected body part." [HPO:probinson] -synonym: "Tremor of a body part" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Tremor of a body part" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022593 is_a: HP:0001337 ! Tremor @@ -109935,7 +110160,7 @@ is_a: HP:0100851 ! Abnormal emotion/affect behavior id: HP:0030214 name: Hypersexuality def: "Pathological persistent sexual disinhibiting behavior, directed at oneself or to others." [ICM:PCaroppo] -synonym: "Sex addiction" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Sex addiction" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:73744004 xref: UMLS:C0312420 xref: UMLS:C0679145 @@ -110122,7 +110347,7 @@ is_a: HP:0001421 ! Abnormality of the musculature of the hand id: HP:0030239 name: Hypoplasia of the upper arm musculature def: "Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis." [HPO:probinson] -synonym: "Underdeveloped upper arm muscles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022562 is_a: HP:0009016 ! Upper limb muscle hypoplasia @@ -110141,7 +110366,7 @@ id: HP:0030242 name: Portal vein thrombosis def: "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins." [HPO:probinson, pmid:21960890] comment: Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. -synonym: "Blood clot in portal vein" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Blood clot in portal vein" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:17920008 xref: UMLS:C0155773 is_a: HP:0030247 ! Splanchnic vein thrombosis @@ -110150,7 +110375,7 @@ is_a: HP:0030247 ! Splanchnic vein thrombosis id: HP:0030243 name: Hepatic vein thrombosis def: "An obstruction in the veins of the liver caused by a blood clot (thrombosis)." [HPO:probinson] -synonym: "Blood clot in liver vein" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Blood clot in liver vein" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006502 xref: SNOMEDCT_US:38739001 xref: UMLS:C0019154 @@ -110170,7 +110395,7 @@ id: HP:0030245 name: Intrapartum fever def: "The occurence of maternal fever during labor." [HPO:probinson, pmid:11430951, pmid:8135133] comment: Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality. -synonym: "Maternal fever during labor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Maternal fever during labor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3829514 is_a: HP:0030244 ! Maternal fever in pregnancy @@ -110185,7 +110410,7 @@ is_a: HP:0030244 ! Maternal fever in pregnancy id: HP:0030247 name: Splanchnic vein thrombosis def: "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)." [HPO:probinson, pmid:20532730] -synonym: "Blood clot in splanchnic vein" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Blood clot in splanchnic vein" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4022560 is_a: HP:0004936 ! Venous thrombosis @@ -110194,7 +110419,7 @@ id: HP:0030248 name: Mesenteric venous thrombosis def: "A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine)." [] comment: Mesenteric venous thrombosis may be associated with abdominal pain and bloating, diarrhea, fever, gastrointestinal bleeding, and vomiting -synonym: "Blood clot in mesentertic vein" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Blood clot in mesentertic vein" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D065666 xref: SNOMEDCT_US:95446005 xref: UMLS:C0267412 @@ -110273,7 +110498,7 @@ id: HP:0030258 name: Hyperpigmented genitalia def: "Localized or generalized increased genital pigmentation." [] comment: This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s). -synonym: "Increased genital pigmentation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased genital pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Penile melanosis" RELATED [] xref: UMLS:C4020713 xref: UMLS:C4022554 @@ -110284,7 +110509,7 @@ id: HP:0030259 name: Hypopigmented genitalia def: "Localized or generalized decreased genital pigmentation." [HPO:probinson, pmid:23650202] comment: This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation. -synonym: "Decreased genital pigmentation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased genital pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022553 is_a: HP:0012293 ! Abnormal genital pigmentation @@ -110369,8 +110594,8 @@ is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0030269 -name: Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} -def: "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation." [pmid:18436706] +name: Increased serum insulin-like growth factor 1 +def: "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson, pmid:18436706] comment: Growth hormone and IGF-I are important regulators of bone homeostasis throughout life. During the prepubertal period, GH and IGF-I are determinants of longitudinal bone growth, skeletal maturation, and acquisition of bone mass, whereas in adults they are important in the maintenance of bone mass. synonym: "Elevated serum IGF1" EXACT [] synonym: "Increased serum IGF1" EXACT [] @@ -110412,7 +110637,7 @@ id: HP:0030274 name: Accessory scrotum def: "Additional scrotum, or part of a scrotum in an abnormal location." [pmid:23650202] comment: An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately. -synonym: "Extra scrotum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Extra scrotum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022543 is_a: HP:0000045 ! Abnormality of the scrotum @@ -110421,7 +110646,7 @@ id: HP:0030275 name: Ectopic scrotum def: "Scrotum in a position other than the usual position inferior to the base of the penis." [pmid:23650202] comment: This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations. -synonym: "Abnormal scrotum position" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal scrotum position" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022542 is_a: HP:0000045 ! Abnormality of the scrotum @@ -110495,7 +110720,7 @@ is_a: HP:0007375 ! Abnormality of the septum pellucidum id: HP:0030284 name: Triangular tongue def: "A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle." [UToronto:bgallinger] -synonym: "Triangle shaped tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Triangle shaped tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular tongue" EXACT layperson [] xref: UMLS:C4022537 is_a: HP:0000158 ! Macroglossia @@ -110518,7 +110743,7 @@ is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle id: HP:0030289 name: Flattened femoral epiphysis def: "An abnormal flattening of an epiphysis of femur." [HPO:probinson] -synonym: "Flattended end part of thigh bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flattended end part of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850642 is_a: HP:0003071 ! Flattened epiphysis @@ -110548,7 +110773,7 @@ is_a: HP:0030291 ! Lower-limb metaphyseal irregularity id: HP:0030293 name: Fibular metaphyseal irregularity def: "Irregularity of the normally smooth surface of a metaphysis of a fibula." [HPO:probinson] -synonym: "Irregularity of wide portion of calf bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Irregularity of wide portion of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022532 is_a: HP:0030291 ! Lower-limb metaphyseal irregularity @@ -110586,7 +110811,7 @@ is_a: HP:0005868 ! Metaphyseal enchondromatosis id: HP:0030299 name: Distal femoral metaphyseal abnormality def: "An anomaly of the metaphysis of the distal femur (close to the knee)." [HPO:probinson] -synonym: "Abnormality of wide portion of outermost thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of wide portion of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022527 is_a: HP:0006489 ! Abnormality of the femoral metaphysis @@ -110644,7 +110869,7 @@ is_a: HP:0030305 ! Decreased number of vertebrae id: HP:0030307 name: Flared lower limb metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg." [HPO:probinson] -synonym: "Flared metaphysis of lower limb bone" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Flared metaphysis of lower limb bone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022520 is_a: HP:0003015 ! Flared metaphysis @@ -110652,8 +110877,8 @@ is_a: HP:0003015 ! Flared metaphysis id: HP:0030308 name: Flared distal tibial metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia." [HPO:probinson] -synonym: "Flared outermost metaphysis of shankbone" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Flared outermost metaphysis of shinbone" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Flared outermost metaphysis of shankbone" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Flared outermost metaphysis of shinbone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022519 is_a: HP:0030307 ! Flared lower limb metaphysis @@ -110661,7 +110886,7 @@ is_a: HP:0030307 ! Flared lower limb metaphysis id: HP:0030309 name: Flared distal fibular metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula." [HPO:probinson] -synonym: "Flared outermost wide portion of of calf bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Flared outermost wide portion of of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022518 is_a: HP:0030307 ! Flared lower limb metaphysis @@ -110669,7 +110894,7 @@ is_a: HP:0030307 ! Flared lower limb metaphysis id: HP:0030310 name: Upper extremity joint dislocation def: "Displacement or malalignment of one or more joints in the upper extremity (arm)." [HPO:probinson] -synonym: "Dislocated arm joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dislocated arm joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022517 is_a: HP:0001373 ! Joint dislocation @@ -110677,7 +110902,7 @@ is_a: HP:0001373 ! Joint dislocation id: HP:0030311 name: Lower extremity joint dislocation def: "Displacement or malalignment of one or more joints in the lower extremity (leg)." [HPO:probinson] -synonym: "Dislocated leg joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Dislocated leg joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022516 is_a: HP:0001373 ! Joint dislocation @@ -110685,7 +110910,7 @@ is_a: HP:0001373 ! Joint dislocation id: HP:0030312 name: Obliteration of the calvarial diploe def: "Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe)." [HPO:probinson] -synonym: "Obliteration of cranial cancellous bone" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Obliteration of cranial cancellous bone" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1860855 is_a: HP:0002648 ! Abnormality of calvarial morphology @@ -110711,9 +110936,9 @@ def: "A type of inflammation of the lips involving one or both of the corners of synonym: "Angular cheilosis" EXACT [] synonym: "Angular stomatitis" EXACT [] synonym: "Commissural cheilitis" EXACT [] -synonym: "Inflammation of corners of the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Inflammation of oral commisures" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Red and sore corners of the mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Inflammation of corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Inflammation of oral commisures" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Red and sore corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:266429005 xref: UMLS:C0221237 is_a: HP:0100825 ! Cheilitis @@ -110722,11 +110947,11 @@ is_a: HP:0100825 ! Cheilitis id: HP:0030319 name: Weakness of facial musculature def: "Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] -synonym: "Decreased facial muscle strength" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Decreased strength of facial muscles" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased facial muscle strength" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Decreased strength of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Face weakness" EXACT layperson [] -synonym: "Myasthenia of facial muscles" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Reduced facial muscle strength" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Myasthenia of facial muscles" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Reduced facial muscle strength" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Weakness of face" EXACT layperson [] synonym: "Weakness of facial musculature" EXACT layperson [] xref: UMLS:C4022514 @@ -110879,8 +111104,8 @@ is_a: HP:0030338 ! Abnormal circulating gonadotropin level [Term] id: HP:0030340 name: obsolete Increased circulating gonadotropin level -def: "An elevation in the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)." [HPO:probinson] is_obsolete: true +replaced_by: HP:0000837 [Term] id: HP:0030341 @@ -111377,7 +111602,7 @@ is_a: HP:0030694 ! Pineal parenchymal cell neoplasm id: HP:0030408 name: Pineoblastoma alt_id: HP:0040193 -def: "Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells." [HPO:probinson] {comment="PMID:21717450"} +def: "Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells." [HPO:probinson, PMID:21717450] comment: Pineoblastomas are rare, malignant, pineal region lesions that account for <0.1% of all intracranial tumors. Pineoblastomas harbor a poor prognosis and can metastasize along the neuroaxis. Although they typically appear radiographically as a focal enhancing mass, pineoblastomas can be locally invasive and spread outside the pineal region through the subarachnoid space. Pineoblastomas are more common in children than in adults, and adults account for <10% of patients. synonym: "Pinealoblastoma" EXACT [] xref: MSH:D010871 @@ -111451,7 +111676,7 @@ id: HP:0030416 name: Vulvar neoplasm def: "A tumor (abnormal growth of tissue) of the female external genital tract (vulva)." [HPO:probinson] synonym: "Neoplasm of the vulva" EXACT [] -synonym: "Tumor of the vulva" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Tumor of the vulva" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D014846 xref: SNOMEDCT_US:126922007 xref: UMLS:C0042995 @@ -111509,7 +111734,7 @@ is_obsolete: true id: HP:0030423 name: Splenic cyst def: "A closed sac located in the spleen." [HPO:probinson, pmid:24794024] -synonym: "Cyst on spleen" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Cyst on spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:79040006 xref: UMLS:C0272407 is_a: HP:0025408 ! Abnormal spleen morphology @@ -111575,8 +111800,8 @@ is_a: HP:0012288 ! Neoplasm of head and neck id: HP:0030430 name: Neuroma def: "A tumor made up of nerve cells and nerve fibers." [HPO:probinson] -synonym: "Nerve tumor" EXACT layperson [http://orcid.org/0000-0001-5208-3432, http://www.apma.org/learn/foothealth.cfm?itemnumber=987] -synonym: "Pinched nerve" EXACT layperson [http://orcid.org/0000-0001-5208-3432, http://www.apma.org/learn/foothealth.cfm?itemnumber=987] +synonym: "Nerve tumor" EXACT layperson [http://www.apma.org/learn/foothealth.cfm?itemnumber=987, ORCID:0000-0001-5208-3432] +synonym: "Pinched nerve" EXACT layperson [http://www.apma.org/learn/foothealth.cfm?itemnumber=987, ORCID:0000-0001-5208-3432] xref: MSH:D009463 xref: SNOMEDCT_US:25169009 xref: SNOMEDCT_US:274089002 @@ -111590,7 +111815,7 @@ is_a: HP:0100007 ! Neoplasm of the peripheral nervous system id: HP:0030431 name: Osteochondroma def: "A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone." [HPO:probinson, pmid:18271966] -synonym: "Osteocartilaginous exostoses" EXACT [http://orcid.org/0000-0001-5208-3432, https://en.wikipedia.org/wiki/osteochondroma] +synonym: "Osteocartilaginous exostoses" EXACT [https://en.wikipedia.org/wiki/osteochondroma, ORCID:0000-0001-5208-3432] synonym: "Osteochondromas" EXACT [HPO:skoehler] xref: MSH:D015831 xref: SNOMEDCT_US:307573009 @@ -111643,7 +111868,7 @@ is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0030437 name: Anal canal neoplasm -synonym: "Anal canal tumor" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Anal canal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:126850006 xref: UMLS:C0345883 is_a: HP:0004378 ! Abnormality of the anus @@ -112058,7 +112283,7 @@ is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0030496 name: Macular exudate -def: "Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature." [UManchester:psergouniotis] +def: "Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature." [ORCID:0000-0003-0986-4123] synonym: "Macular exudates" EXACT HP:0045078 [] synonym: "Macular exudation" EXACT [] xref: UMLS:C4072984 @@ -112076,7 +112301,7 @@ is_a: HP:0031606 ! Retinal cotton wool spot [Term] id: HP:0030498 name: Macular thickening -def: "Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging." [] {def="UManchester:psergouniotis"} +def: "Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging." [ORCID:0000-0003-0986-4123] xref: UMLS:C4072986 is_a: HP:0001103 ! Abnormal macular morphology @@ -112175,7 +112400,7 @@ is_a: HP:0009594 ! Retinal hamartoma id: HP:0030511 name: Bradyopsia def: "Difficulty in seeing moving objects." [pmid:25770143] -synonym: "Difficulty seeing moving objects" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Difficulty seeing moving objects" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C564243 xref: SNOMEDCT_US:711163009 xref: UMLS:C1842073 @@ -112202,7 +112427,7 @@ is_a: HP:0030512 ! Difficulty adjusting to changes in luminance [Term] id: HP:0030515 name: Moderate visual impairment -synonym: "Moderate low vision" EXACT layperson [http://orcid.org/0000-0001-5208-3432, http://www.aoa.org/patients-and-public/caring-for-your-vision/low-vision?sso=y] +synonym: "Moderate low vision" EXACT layperson [http://www.aoa.org/patients-and-public/caring-for-your-vision/low-vision?sso=y, ORCID:0000-0001-5208-3432] synonym: "Moderate visual impairment" EXACT layperson [] xref: SNOMEDCT_US:397542006 xref: UMLS:C1301510 @@ -112311,7 +112536,7 @@ is_a: HP:0000575 ! Scotoma [Term] id: HP:0030530 name: Arcuate scotoma -synonym: "Arc-shaped blind spot" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Arc-shaped blind spot" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012607 xref: SNOMEDCT_US:15462009 xref: UMLS:C0271198 @@ -112954,7 +113179,7 @@ is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0030636 name: Occult macular dystrophy -def: "Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities." [] {def="UManchester:psergouniotis"} +def: "Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities." [ORCID:0000-0003-0986-4123] is_a: HP:0007754 ! Macular dystrophy [Term] @@ -113139,7 +113364,7 @@ comment: Vitreous snowballs can be observed in intermediate uveitis. xref: SNOMEDCT_US:417393008 xref: UMLS:C1563272 is_a: HP:0011531 ! Vitritis -created_by: UManchester:psergouniotis +created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030662 @@ -113148,7 +113373,7 @@ def: "The presence of inflammatory cells such as lymphocytes and macrophages in comment: Normally, there are no leukocytes in the vitreous as this is an immune-privileged site. If the blood-retinal barrier is disrupted, then leukocytes gain access to the vitreous. Vitreous inflammatory cells can be measured by flow cytometry of vitreous fluid. xref: UMLS:C4073117 is_a: HP:0011531 ! Vitritis -created_by: UManchester:psergouniotis +created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030663 @@ -113156,7 +113381,7 @@ name: Optically empty vitreous def: "Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity." [PMID:15557460, PMID:7867814] xref: UMLS:C4073118 is_a: HP:0004327 ! Abnormal vitreous humor morphology -created_by: UManchester:psergouniotis +created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030664 @@ -113229,7 +113454,7 @@ def: "Any anomaly of the ring of fibrous tissue that surrounds the optic nerve a synonym: "Abnormality of the common tendinous ring" EXACT [] xref: UMLS:C4073122 is_a: HP:0030669 ! Abnormal morphology of the ocular adnexa -created_by: UManchester:psergouniotis +created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030672 @@ -113239,7 +113464,7 @@ comment: Asteroid hyalosis is a degenerative process. xref: SNOMEDCT_US:95800001 xref: UMLS:C0521770 is_a: HP:0004327 ! Abnormal vitreous humor morphology -created_by: UManchester:psergouniotis +created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030673 @@ -113249,7 +113474,7 @@ xref: MSH:C536075 xref: SNOMEDCT_US:232064001 xref: UMLS:C1840452 is_a: HP:0007773 ! Vitreoretinopathy -created_by: UManchester:psergouniotis +created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030674 @@ -113433,7 +113658,7 @@ is_a: HP:0010799 ! Pinealoma [Term] id: HP:0030706 name: Ranula -def: "A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location." [] {comment="PMID:23291329", comment="UToronto:chum"} +def: "A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location." [PMID:23291329, UToronto:chum] synonym: "Sublingual cyst" EXACT [] synonym: "Sublingual ptyalocele" EXACT [] xref: MSH:D011900 @@ -113445,7 +113670,7 @@ is_a: HP:0010286 ! Abnormal salivary gland morphology id: HP:0030707 name: Unilateral lung agenesis def: "Lack of development of one lung." [] -synonym: "Unilateral pulmonary agenesis" EXACT [] {comment="UToronto:chum"} +synonym: "Unilateral pulmonary agenesis" EXACT [UToronto:chum] xref: MSH:C562992 xref: UMLS:C4082952 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs @@ -113453,7 +113678,7 @@ is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0030708 name: Myeloschisis -def: "The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane." [] {name="PMID:20885122", name="UToronto:chum"} +def: "The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane." [PMID:20885122, UToronto:chum] comment: Myeloschisis is a cleft spinal cord arising from a failure of neural tube closure. The placode is defined as a plate of embryonic epithelial cells constituting a primordial cell group from which the spinal cord arises and is often seen in a myelomeningocele. In a myelomeningocele, an exposed placode is often a myeloschisis. In other words, a myeloschisis is a collapsed myelomeningocele. When the placode in the myelomeningocele sac is a cleft spinal cord, this anomaly is classified as myeloschisis rather than myelomeningocele. xref: SNOMEDCT_US:360530005 xref: UMLS:C0266507 @@ -113462,7 +113687,7 @@ is_a: HP:0002475 ! Myelomeningocele [Term] id: HP:0030709 name: Myelocystocele -def: "Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst." [] {name="PMID:9514174", name="UToronto:chum"} +def: "Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst." [PMID:9514174, UToronto:chum] comment: Localized dilatation of the central canal of the spinal cord which produces a fluid-filled sac or diverticulum which then protrudes through the cord and the defective dorsal dura between the posterior parts of the vertebra. xref: MSH:D008591 xref: SNOMEDCT_US:203994003 @@ -113473,7 +113698,7 @@ is_a: HP:0002196 ! Myelopathy [Term] id: HP:0030710 name: Lipomeningocele -def: "A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life." [] {name="UToronto:chum"} +def: "A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life." [UToronto:chum] xref: SNOMEDCT_US:253120005 xref: UMLS:C0431344 is_a: HP:0002435 ! Meningocele @@ -113481,7 +113706,7 @@ is_a: HP:0002435 ! Meningocele [Term] id: HP:0030711 name: Hydrocolpos -def: "Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction." [] {name="UToronto:chum"} +def: "Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction." [UToronto:chum] comment: This term is distinct from Hydrometrocolpos (HP:0030010), which indicates additional uterine dilation. xref: MSH:D052202 xref: UMLS:C1399870 @@ -113490,7 +113715,7 @@ is_a: HP:0000142 ! Abnormality of the vagina [Term] id: HP:0030712 name: Uterine synechiae -def: "Adhesions or scar tissue that form inside the cavity of the uterus." [] {name="UToronto:chum"} +def: "Adhesions or scar tissue that form inside the cavity of the uterus." [UToronto:chum] comment: Asherman syndrome is a condition characterized by formation of intrauterine adhesions and results from injury to the endometrium. Asherman syndrome is often associated with infertility. synonym: "Asherman syndrome" RELATED [] xref: MSH:D006175 @@ -113501,7 +113726,7 @@ is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0030713 name: Vein of Galen aneurysmal malformation -def: "Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation." [] {name="UToronto:chum"} +def: "Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation." [UToronto:chum] synonym: "Median prosencephalic arteriovenous fistula" EXACT [] synonym: "Vein of Galen aneurysm" EXACT [] synonym: "Vein of Galen malformation" EXACT [] @@ -113513,7 +113738,7 @@ is_a: HP:0012480 ! Abnormality of cerebral veins [Term] id: HP:0030714 name: Subchorionic thrombohematoma -def: "A large maternal clot that separates the chorionic place from the villous chorion." [] {name="PMID:11125254", name="UToronto:chum"} +def: "A large maternal clot that separates the chorionic place from the villous chorion." [PMID:11125254, UToronto:chum] synonym: "Breus' mole" EXACT [] xref: UMLS:C1390676 is_a: HP:0100767 ! Abnormality of the placenta @@ -113521,7 +113746,7 @@ is_a: HP:0100767 ! Abnormality of the placenta [Term] id: HP:0030715 name: Bronchial atresia -def: "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis." [] {name="UToronto:chum"} +def: "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis." [UToronto:chum] synonym: "Congenital bronchial atresia" EXACT [] xref: SNOMEDCT_US:50513008 xref: UMLS:C0265776 @@ -113530,7 +113755,7 @@ is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0030716 name: Acrania -def: "Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly." [] {name="UToronto:chum"} +def: "Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly." [UToronto:chum] xref: MSH:D009436 xref: SNOMEDCT_US:203923004 xref: UMLS:C0702169 @@ -113539,7 +113764,7 @@ is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0030717 name: Meconium peritonitis -def: "peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications." [] {name="PMID:3317498", name="UToronto:chum"} +def: "Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications." [PMID:3317498, UToronto:chum] xref: SNOMEDCT_US:57341009 xref: UMLS:C0270250 is_a: HP:0002586 ! Peritonitis @@ -113547,11 +113772,13 @@ is_a: HP:0002586 ! Peritonitis [Term] id: HP:0030718 name: Right atrial enlargement -def: "Increase in size of the right atrium." [] {name="HPO:probinson"} +def: "Increase in size of the right atrium." [HPO:probinson] comment: This feature can be appreciated on chext radiography, MRI, or CT. synonym: "Dilated right atrium" EXACT [] synonym: "Enlarged heart right atrium" EXACT [] synonym: "Right atrial dilatation" EXACT [] +xref: Fyler:1771 +xref: Fyler:2859 xref: SNOMEDCT_US:67751000119106 xref: UMLS:C0748427 is_a: HP:0025580 ! Abnormal right atrium morphology @@ -113559,7 +113786,7 @@ is_a: HP:0025580 ! Abnormal right atrium morphology [Term] id: HP:0030719 name: Unguarded tricuspid valve -def: "A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue." [] {name="PMID:14246338", name="UToronto:chum"} +def: "A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue." [PMID:14246338, UToronto:chum] synonym: "Rudimentary tricuspid valve leaflets" EXACT [] synonym: "Unguarded tricuspid valve orifice" EXACT [] xref: SNOMEDCT_US:253381001 @@ -113569,30 +113796,30 @@ is_a: HP:0011662 ! Tricuspid atresia [Term] id: HP:0030720 name: Subchorionic septal cyst -def: "Cyst on the surface of the placenta consisting of amnion and chorion." [] {name="UToronto:chum"} +def: "Cyst on the surface of the placenta consisting of amnion and chorion." [UToronto:chum] xref: UMLS:C4280801 is_a: HP:0100767 ! Abnormality of the placenta [Term] id: HP:0030721 name: Tetraphocomelia -def: "Phocomelia involving all four extremities." [] {name="UToronto:chum"} +def: "Phocomelia involving all four extremities." [UToronto:chum] xref: UMLS:C1849370 is_a: HP:0009829 ! Phocomelia [Term] id: HP:0030722 name: Ectopic liver -def: "Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter." [PMID:11988792, PMID:637502] {name="HPO:probinson"} +def: "Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter." [HPO:probinson, PMID:11988792, PMID:637502] comment: Ectopic liver tissue can occur in several different organs, but the gallbladder is the commonest site of origin. xref: SNOMEDCT_US:253813000 xref: UMLS:C0431603 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0030723 name: Congenital megalourethra -def: "Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa." [] {name="PMID:20981865", name="UToronto:chum"} +def: "Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa." [PMID:20981865, UToronto:chum] xref: UMLS:C4280800 is_a: HP:0000795 ! Abnormality of the urethra @@ -113658,9 +113885,9 @@ is_a: HP:0002435 ! Meningocele [Term] id: HP:0030731 name: Carcinoma -def: "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus)." [] {name="HPO:probinson"} +def: "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus)." [HPO:probinson] xref: MSH:D002277 -xref: NCIT:C2916 "Carcinoma" +xref: NCIT:C2916 xref: SNOMEDCT_US:68453008 xref: UMLS:C0007097 is_a: HP:0031492 ! Epithelial neoplasm @@ -113668,7 +113895,7 @@ is_a: HP:0031492 ! Epithelial neoplasm [Term] id: HP:0030732 name: Dysplastic tricuspid valve -def: "A congenital malformation of the tricuspid valve characterized by leaflet deformation." [] {comment="HPO:probinson", comment="PMID:2007717", comment="PMID:26059011", comment="UToronto:chum"} +def: "A congenital malformation of the tricuspid valve characterized by leaflet deformation." [HPO:probinson, PMID:2007717, PMID:26059011, UToronto:chum] comment: Malformations of the tricuspid valve include a wide range of morphologic features that can be divided into two main groups: those in which the primary lesion is downward displacement of the basal attachment of the mural and septal (or both) leaflets, known as Ebstein's malformation (1), and those without downward displacement but with deformation of the leaflets and the tension apparatus, an arrangement described as dysplasia. In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae. synonym: "Tricuspid valve dysplasia" EXACT [] xref: UMLS:C4255215 @@ -113684,14 +113911,14 @@ is_a: HP:0010478 ! Abnormality of the urachus [Term] id: HP:0030735 name: Ureterovesical junction obstruction -def: "Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle." [] {comment="UToronto:chum"} +def: "Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle." [UToronto:chum] xref: UMLS:C2609249 is_a: HP:0006000 ! Ureteral obstruction [Term] id: HP:0030736 name: Sacrococcygeal teratoma -def: "A teratoma arising in the sacro-coccygeal region." [] {comment="UToronto:chum"} +def: "A teratoma arising in the sacro-coccygeal region." [UToronto:chum] comment: Sacrococcygeal teratomas arise from totipotent cells from the node of Hensen at the anterior aspect of the coccyx by about the 2nd to 3rd weeks of gestation, and are composed of the all three germ cells (i.e. ectoderm, mesoderm and endoderm). Sacrococcygeal teratomas are classified according to their relative extent outside and inside the body. Altman type I: entirely outside, sometimes attached to the body only by a narrow stalk; Altman type II: mostly outside; Altman type III: mostly inside; Altman type IV: entirely inside. xref: SNOMEDCT_US:281561000 xref: UMLS:C0559459 @@ -113822,7 +114049,7 @@ is_a: HP:0030747 ! Preterm intraventricular hemorrhage [Term] id: HP:0030752 name: Dacryocystocele -def: "A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve." [] {name="PMID:19205594", name="UToronto:chum"} +def: "A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve." [PMID:19205594, UToronto:chum] synonym: "Timo cyst" EXACT [] xref: SNOMEDCT_US:42758002 xref: UMLS:C0155241 @@ -113831,7 +114058,7 @@ is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0030753 name: Intrauterine fetal demise of one twin after midgestation -def: "Loss of one twin occurring after midgestation (17 weeks gestation)." [PMID:24361180] {name="HPO:jdavis", name="PMID:10732306", name="PMID:2187353", name="PMID:2704493", name="PMID:9699754"} +def: "Loss of one twin occurring after midgestation (17 weeks gestation)." [HPO:jdavis, PMID:10732306, PMID:2187353, PMID:24361180, PMID:2704493, PMID:9699754] comment: Loss of one twin in the first trimester does not appear to impair the development of the surviving twin. However, fetal death occurring after midgestation (17 weeks' gestation) may increase the risk of IUGR, preterm labor, preeclampsia and perinatal mortality. synonym: "Single-twin demise" RELATED [] xref: UMLS:C4280785 @@ -113912,7 +114139,7 @@ is_a: HP:0001966 ! Mesangial abnormality [Term] id: HP:0030763 name: Amniotic Sheet -def: "A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion." [] {comment="UToronto:chum"} +def: "A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion." [UToronto:chum] synonym: "Amniotic shelf" EXACT [] xref: UMLS:C4280779 is_a: HP:0011409 ! Abnormality of placental membranes @@ -113920,7 +114147,7 @@ is_a: HP:0011409 ! Abnormality of placental membranes [Term] id: HP:0030764 name: Ochronosis -def: "Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved." [] {comment="HPO:probinson", comment="PMID:24447956", comment="PMID:26929770"} +def: "Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved." [HPO:probinson, PMID:24447956, PMID:26929770] xref: MSH:D009794 xref: SNOMEDCT_US:410042009 xref: UMLS:C0028817 @@ -114084,7 +114311,7 @@ is_a: HP:0030782 ! Abnormal serum interleukin level [Term] id: HP:0030784 name: Anomia -def: "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name." [] {comment="HPO:probinson", comment="PMID:18348092"} +def: "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name." [HPO:probinson, PMID:18348092] synonym: "Amnesic aphasia" EXACT [] synonym: "Amnestic aphasia" EXACT [] synonym: "Anomic aphasia" EXACT [] @@ -114147,14 +114374,14 @@ is_a: HP:0030787 ! Cerumen abnormality [Term] id: HP:0030791 name: Abnormal jaw morphology -def: "A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla." [] {comment="HPO:probinson"} +def: "A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla." [HPO:probinson] xref: UMLS:C4280767 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0030792 name: Jaw neoplasm -def: "A tumor originating in the jaw (mandible or maxilla)." [] {comment="HPO:probinson"} +def: "A tumor originating in the jaw (mandible or maxilla)." [HPO:probinson] xref: MSH:D007573 xref: SNOMEDCT_US:126634001 xref: UMLS:C0022364 @@ -114239,7 +114466,7 @@ def: "Inferior malposition of the lower eyelid margin without eyelid eversion." comment: This is is not to be confused with ectropion (eyelid eversion). Lower eyelid retraction presents clinically with scleral show; round, sad-looking eyes; lateral canthal tendon laxity; and symptoms of ocular irritation, including photophobia, excessive tearing, and nocturnal lagophthalmos. xref: SNOMEDCT_US:700264006 xref: UMLS:C1861656 -is_a: HP:0000492 ! Abnormal eyelid morphology +is_a: HP:0500043 ! Eyelid retraction [Term] id: HP:0030803 @@ -114302,7 +114529,7 @@ is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0030811 name: Tongue pain -def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue." [] {comment="HPO:probinson"} +def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue." [HPO:probinson] synonym: "Painful tongue" EXACT [] xref: MSH:D005926 xref: SNOMEDCT_US:30731004 @@ -114312,7 +114539,7 @@ is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0030812 name: Enlarged tonsils -def: "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat." [] {comment="HPO:probinson"} +def: "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat." [HPO:probinson] synonym: "Enlargment of tonsils" EXACT [] synonym: "Tonsillar hypertrophy" EXACT [] synonym: "tonsils large/hypertrophy" EXACT [] @@ -114323,7 +114550,7 @@ is_a: HP:0100765 ! Abnormality of the tonsils [Term] id: HP:0030813 name: Absent tonsils -def: "Lack of observable tonsillar tissue." [] {comment="HPO:probinson"} +def: "Lack of observable tonsillar tissue." [HPO:probinson] synonym: "Hypoplastic tonsils" EXACT [] synonym: "Tonsillar hypoplasia" EXACT [] xref: SNOMEDCT_US:249393008 @@ -114444,7 +114671,7 @@ synonym: "Fasciculation of the eyelid" EXACT [] synonym: "Muscle twitches in eye lid" EXACT layperson [] synonym: "Muscle twitches in eyelid" EXACT layperson [] xref: UMLS:C4280682 -is_a: HP:0000492 ! Abnormal eyelid morphology +is_a: HP:0031785 ! Abnormal eyelid movement [Term] id: HP:0030828 @@ -114671,6 +114898,8 @@ id: HP:0030853 name: Heterotaxy def: "An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body." [HPO:probinson, PMID:21731561] synonym: "Heterotaxia" EXACT [] +xref: Fyler:0190 +xref: Fyler:190 xref: MSH:D059446 xref: SNOMEDCT_US:14821001 xref: SNOMEDCT_US:24614000 @@ -114723,7 +114952,7 @@ is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0030859 name: Topoisomerase I antibody positivity -def: "The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I." [] {comment="PMID:16112028"} +def: "The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I." [PMID:16112028] synonym: "Top1 antibody positivity" EXACT [] synonym: "Topoisomerase (DNA) I antibody positivity" EXACT [] xref: UMLS:C4280741 @@ -114755,7 +114984,7 @@ is_a: HP:0030860 ! Abnormal CSF amyloid level [Term] id: HP:0030863 name: Nasal flaring -def: "Widening of the nostrils upon inhalation as a manifestation of respiratory distress." [] {comment="PMID:25274969", comment="UToronto:chum"} +def: "Widening of the nostrils upon inhalation as a manifestation of respiratory distress." [PMID:25274969, UToronto:chum] comment: Nasal flaring is a compensatory symptom that increases upper airway diameter and reduces resistance and work of breathing. xref: SNOMEDCT_US:21558008 xref: SNOMEDCT_US:248568003 @@ -114765,7 +114994,7 @@ is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0030864 name: Intercostal retractions -def: "A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress." [] {comment="PMID:25274969"} +def: "A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress." [PMID:25274969] synonym: "Chest retractions" EXACT [] xref: SNOMEDCT_US:6442005 xref: UMLS:C0425470 @@ -114774,21 +115003,21 @@ is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0030865 name: Large elbow -def: "Abnormal increased size of the elbow joint." [] {comment="HPO:probinson"} +def: "Abnormal increased size of the elbow joint." [HPO:probinson] xref: UMLS:C4280737 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0030866 name: Large knee -def: "Abnormally increased size of the knee joint." [] {comment="HPO:probinson"} +def: "Abnormally increased size of the knee joint." [HPO:probinson] xref: UMLS:C4280736 is_a: HP:0002815 ! Abnormality of the knee [Term] id: HP:0030867 name: Vertical orbital dystopia -def: "The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other." [] {comment="HPO:probinson", comment="PMID:7795293"} +def: "The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other." [HPO:probinson, PMID:7795293] synonym: "Eyes at different heights" EXACT layperson [] synonym: "Misaligned eyes" EXACT layperson [] synonym: "Unequal eye height" EXACT layperson [] @@ -114808,7 +115037,7 @@ is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0030869 name: Anorchism -def: "An abnormality of XY sexual development characterized by the absence of both testes at birth." [] {comment="HPO:probinson"} +def: "An abnormality of XY sexual development characterized by the absence of both testes at birth." [HPO:probinson] xref: MSH:C537770 xref: SNOMEDCT_US:371015003 xref: UMLS:C1261504 @@ -114817,7 +115046,7 @@ is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0030870 name: Abnormality of spinal facet joint -def: "An anomaly of the small joints located between and behind adjacent vertebrae." [] {comment="HPO:probinson"} +def: "An anomaly of the small joints located between and behind adjacent vertebrae." [HPO:probinson] comment: The spinal facet joints represent a set of synovial, plane joints between the articular processes of each two adjacent vertebrae. Each pair of facet joints functions to guide and limit the movement of the corresponding spinal motion segment. synonym: "Abnormality of apophyseal joint" EXACT [] synonym: "Abnormality of Z-joint" EXACT [] @@ -114829,7 +115058,7 @@ is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0030871 name: Facet joint arthrosis -def: "Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray." [] {comment="HPO:probinson"} +def: "Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray." [HPO:probinson] comment: Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disc disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disc disease are both common causes of back and neck pain. synonym: "Facet arthritis" EXACT [] xref: UMLS:C4280734 @@ -114845,7 +115074,7 @@ is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0030873 name: Anticentromere antibody positivity -def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components." [] {comment="PMID:17444587"} +def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components." [PMID:17444587] synonym: "ACA positivity" EXACT [] synonym: "Anti-centromere antibody positivity" EXACT [] xref: UMLS:C4280732 @@ -114930,6 +115159,7 @@ def: "Enlargement of the diameter (cross-section) of a coronary artery as define synonym: "Coronary arterial dilatation" EXACT [] synonym: "Coronary artery dilatation" EXACT [] synonym: "Coronary artery ectasia" EXACT [] +xref: Fyler:3129 xref: UMLS:C4255100 is_a: HP:0006704 ! Abnormal coronary artery morphology @@ -114962,7 +115192,7 @@ is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0030886 name: Abnormal lymphocyte apoptosis -def: "A anomaly in the rate of apoptosis in lymphocytes." [] {comment="HPO:probinson"} +def: "A anomaly in the rate of apoptosis in lymphocytes." [HPO:probinson] xref: UMLS:C4280725 is_a: HP:0031409 ! Abnormal lymphocyte physiology @@ -115016,13 +115246,13 @@ is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI [Term] id: HP:0030893 name: Abnormal response to short acting pulmonary vasodilator -def: "Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg." [] {comment="NIHR:ldaugherty", comment="PMID:20004088"} +def: "Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg." [NIHR:ldaugherty, PMID:20004088] is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0030894 name: Insufficient response to short acting pulmonary vasodilator -def: "No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide." [] {comment="NIHR:ldaugherty"} +def: "No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide." [NIHR:ldaugherty] is_a: HP:0030893 ! Abnormal response to short acting pulmonary vasodilator [Term] @@ -115071,20 +115301,20 @@ is_a: HP:0000989 ! Pruritus [Term] id: HP:0030902 name: Palmomental reflex -def: "A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm." [] {comment="HPO:probinson", comment="PMID:12122165"} +def: "A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm." [HPO:probinson, PMID:12122165] comment: The palmomental reflex is often present in normal people and may be absent in disease states. Testing merely for the presence or absence of the reflex therefore lacks both specificity and sensitivity. A strong, sustained, and easily repeatable contraction of the mentalis muscle, which can be elicited by stimulation of areas other than the palm, is more likely to indicate cerebral damage. is_a: HP:0002476 ! Primitive reflex [Term] id: HP:0030903 name: Grasp reflex -def: "A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]." [] {comment="HPO:probinson", comment="PMID:12700289"} +def: "A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]." [HPO:probinson, PMID:12700289] is_a: HP:0002476 ! Primitive reflex [Term] id: HP:0030904 name: Glabellar reflex -def: "A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign." [] {comment="HPO:probinson"} +def: "A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign." [HPO:probinson] synonym: "Myerson's sign" RELATED [] is_a: HP:0002476 ! Primitive reflex @@ -115119,7 +115349,7 @@ is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030909 name: Anti-liver cytosolic antigen type 1 antibody positivity -def: "The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction." [] {comment="PMID:7806169"} +def: "The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction." [PMID:7806169] comment: These autoantibodies may be observed in a subset of persons with autoimmune hepatitis. synonym: "Anti-liver cytosol antibody-1 positivity" EXACT [] is_a: HP:0030057 ! Autoimmune antibody positivity @@ -115127,7 +115357,7 @@ is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030911 name: Bifid clitoris -def: "Two clitorides located side by side." [] {comment="PMID:23650202"} +def: "Two clitorides located side by side." [PMID:23650202] comment: The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as Duplicated clitoris. A bifid clitoris is almost invariably accompanied by Epispadias, which should be coded separately. is_a: HP:0000056 ! Abnormality of the clitoris @@ -115141,7 +115371,7 @@ is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0030913 name: Exaggerated rugosity of the labia majora -def: "Marked rugae formation of the skin of the labia majora." [] {comment="PMID:23650202"} +def: "Marked rugae formation of the skin of the labia majora." [PMID:23650202] comment: Some rugae formation is typically found on the labia majora, but less than on the scrotum. synonym: "Scrotum-like labia majora" EXACT [] is_a: HP:0012881 ! Abnormality of the labia majora @@ -115301,7 +115531,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:48:22Z xsd:da id: HP:0030935 name: Abnormality of intestinal smooth muscle morphology def: "A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine." [] -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2016-12-02T15:17:33Z xsd:dateTime @@ -115456,7 +115686,8 @@ name: Membranous ventricular septal aneurysm def: "Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)." [PMID:5846101, PMID:6018320] comment: The pars membranacea is the last portion of the septum formed in the fetus, is lo-cated between the left and right ventricles in front of the tricuspid valve, and between the left ventricle and the right atrium, behind the tricuspid valve. It lies in close proximity to the aortic and atrioventricular valves and is considered to be the weakest part of the ventricular septum. The aneurysms of the membranous portion usually measure 1 to 2 cm in all diameters and their walls are composed of fibrous tissue forming thick trabeculae when seen from the left ventricle. They can project into different portions of the right ventricle or right atrium. synonym: "Aneurysm of the membranous ventricular septum" NARROW [] -synonym: "Interventricular septum membranous part aneurysm" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Interventricular septum membranous part aneurysm" EXACT [ORCID:0000-0001-5208-3432] +xref: Fyler:2346 is_a: HP:0030957 ! Ventricular septal aneurysm property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T20:04:30Z xsd:dateTime @@ -115474,8 +115705,8 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T20:22:16Z xsd:da [Term] id: HP:0030960 name: obsolete Abnormal pupillary morphology -property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T12:39:46Z xsd:dateTime is_obsolete: true +replaced_by: HP:0000615 [Term] id: HP:0030961 @@ -115536,6 +115767,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:29:51Z xsd:da id: HP:0030968 name: Abnormal pulmonary vein morphology def: "An abnormality of the structure of the pulmonary veins." [] +xref: Fyler:3000 is_a: HP:0011718 ! Abnormality of the pulmonary veins is_a: HP:0030962 ! Abnormal morphology of the great vessels property_value: http://purl.org/dc/elements/1.1/creator "robinp" xsd:string @@ -116147,7 +116379,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:44:58Z xsd:da [Term] id: HP:0031038 name: Spermatogenesis maturation arrest -def: "Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa." [] {def="PMID:21684558"} +def: "Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa." [PMID:21684558] comment: Maturation arrest (MA) of spermatogenesis is diagnosed on histology as interruption of spermatogenesis before the final stage without impairment of Sertoli or Leydig cells. It is considered a condition of irreversible or absolute infertility. synonym: "Meiotic maturation arrest of spermatogenesis" EXACT [] is_a: HP:0008669 ! Abnormal spermatogenesis @@ -116883,7 +117115,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:33:25Z xsd:da [Term] id: HP:0031131 name: Abnormal plalelet phosphatidylserine exposure -def: "An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement." [] {comment="PMID:12814644"} +def: "An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement." [PMID:12814644] is_a: HP:0011869 ! Abnormal platelet function property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:34:11Z xsd:dateTime @@ -116932,7 +117164,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T15:21:08Z xsd:da id: HP:0031137 name: Storage in hepatocytes def: "Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material." [] -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T15:30:13Z xsd:dateTime @@ -117416,7 +117648,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T10:55:36Z xsd:da [Term] id: HP:0031200 name: Hyaline casts -def: "A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends." [] {comment="PMID:26079824"} +def: "A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends." [PMID:26079824] is_a: HP:0031199 ! Acellular urinary casts property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:00:48Z xsd:dateTime @@ -117797,7 +118029,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-08T11:27:32Z xsd:da [Term] id: HP:0031244 name: Swollen lip -def: "Enlargement of the lip typically due to fluid buildup or inflammation." [http://orcid.org/0000-0001-5208-3432] +def: "Enlargement of the lip typically due to fluid buildup or inflammation." [ORCID:0000-0001-5208-3432] synonym: "Swelling of the lip" EXACT [] is_a: HP:0000159 ! Abnormality of the lip property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -117834,7 +118066,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:22:51Z xsd:da [Term] id: HP:0031248 name: Palmar pruritus -def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand." [http://orcid.org/0000-0001-5208-3432] +def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand." [ORCID:0000-0001-5208-3432] synonym: "Itchy palm" EXACT layperson [] is_a: HP:0030899 ! Pruritis on hand property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -117988,7 +118220,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:38:16Z xsd:da [Term] id: HP:0031267 name: Abnormal CD69 upregulation upon TCR activation -def: "Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus." [http://orcid.org/0000-0001-5208-3432] +def: "Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus." [ORCID:0000-0001-5208-3432] comment: This feature can be measured by flow cytometry. is_a: HP:0410035 ! Abnormal T cell activation property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -117997,7 +118229,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:45:57Z xsd:da [Term] id: HP:0031268 name: Decreased CD69 upregulation upon TCR activation -def: "Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR)." [http://orcid.org/0000-0001-5208-3432] +def: "Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR)." [ORCID:0000-0001-5208-3432] is_a: HP:0031267 ! Abnormal CD69 upregulation upon TCR activation property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:50:21Z xsd:dateTime @@ -118005,7 +118237,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:50:21Z xsd:da [Term] id: HP:0031269 name: Abnormal CD25 upregulation upon TCR activation -def: "Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression." [http://orcid.org/0000-0001-5208-3432, PMID:12121224] +def: "Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression." [ORCID:0000-0001-5208-3432, PMID:12121224] is_a: HP:0410035 ! Abnormal T cell activation property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:51:36Z xsd:dateTime @@ -118013,7 +118245,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:51:36Z xsd:da [Term] id: HP:0031270 name: Decreased CD25 upregulation upon TCR activation -def: "Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR)." [http://orcid.org/0000-0001-5208-3432] +def: "Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR)." [ORCID:0000-0001-5208-3432] synonym: "Poor CD25 upregulation upon TCR activation" EXACT [] synonym: "Reduced IL2RA upregulation upon TCR activation" EXACT [] is_a: HP:0031269 ! Abnormal CD25 upregulation upon TCR activation @@ -118221,6 +118453,8 @@ id: HP:0031295 name: Left atrial enlargement def: "Increase in size of the left atrium." [] synonym: "Enlarged heart left atrium" EXACT [] +xref: Fyler:3011 +xref: Fyler:3020 is_a: HP:0025579 ! Abnormal left atrium morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:38:04Z xsd:dateTime @@ -118407,7 +118641,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:45:49Z xsd:da [Term] id: HP:0031318 name: Myofiber disarray -def: "A nonparallel arrangement of cardiac myocytes." [] {def="PMID:7890275"} +def: "A nonparallel arrangement of cardiac myocytes." [PMID:7890275] comment: The presence of a sufficient quantity of myocardial fibers showing this change is considered to be a specific histological feature of hypertrophic cardiomyopathy. synonym: "Myocardial fiber disarray" EXACT [] is_a: HP:0001637 ! Abnormal myocardium morphology @@ -118660,6 +118894,8 @@ name: Dextrotransposition of the great arteries def: "A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA." [PMID:25082585] synonym: "D-loop transposition of the great arteries" EXACT [] synonym: "D-TGA" EXACT HP:0045077 [] +xref: Fyler:0700 +xref: Fyler:700 is_a: HP:0001669 ! Transposition of the great arteries property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:17:00Z xsd:dateTime @@ -118693,7 +118929,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:28:56Z xsd:da [Term] id: HP:0031352 name: Chest tightness -def: "An unpleasant sensation of tightness or pressure in the chest." [http://orcid.org/0000-0001-5208-3432, PMID:16990972] +def: "An unpleasant sensation of tightness or pressure in the chest." [ORCID:0000-0001-5208-3432, PMID:16990972] is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:49:28Z xsd:dateTime @@ -118701,7 +118937,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:49:28Z xsd:da [Term] id: HP:0031353 name: Otitis media with effusion -def: "Otitis media characterized by thick or sticky fluid behind the tympanic membrane." [http://orcid.org/0000-0001-5208-3432] +def: "Otitis media characterized by thick or sticky fluid behind the tympanic membrane." [ORCID:0000-0001-5208-3432] synonym: "Fluid behind eardrum" EXACT layperson [] is_a: HP:0000388 ! Otitis media property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -118827,7 +119063,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:05:37Z xsd:da id: HP:0031368 name: Intestinal perforation def: "A hole (perforation) in the wall of the intestine." [] -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:23:22Z xsd:dateTime @@ -119177,6 +119413,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T12:15:25Z xsd:da id: HP:0031411 name: Abnormal chromosome morphology def: "Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order." [] +xref: Fyler:4013 is_a: HP:0025461 ! Abnormal cell morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T15:22:36Z xsd:dateTime @@ -119431,6 +119668,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T12:31:51Z xsd:da id: HP:0031440 name: obsolete Abnormal tricuspid valve morphology is_obsolete: true +replaced_by: HP:0001702 [Term] id: HP:0031441 @@ -119711,6 +119949,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:04:47Z xsd:da id: HP:0031477 name: obsolete Abnormal mitral valve morphology is_obsolete: true +replaced_by: HP:0001633 [Term] id: HP:0031478 @@ -120391,6 +120630,7 @@ id: HP:0031560 name: Coronary cameral fistula def: "An abnormal communication between coronary artery and a cardiac chamber." [PMID:26240737] comment: Coronary cameral fistulas are usually congenital and asymptomatic in majority of patients. +xref: Fyler:2233 is_a: HP:0011641 ! Coronary artery fistula property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:27:41Z xsd:dateTime @@ -120407,6 +120647,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:29:11Z xsd:da id: HP:0031562 name: Balanced double aortic arch def: "A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch." [PMID:22073330] +xref: Fyler:2780 is_a: HP:0011590 ! Double aortic arch property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:31:18Z xsd:dateTime @@ -120415,6 +120656,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:31:18Z xsd:da id: HP:0031563 name: Coronary arteriovenous fistula def: "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation." [MP:0011656] +xref: Fyler:2240 is_a: HP:0011641 ! Coronary artery fistula property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T12:05:45Z xsd:dateTime @@ -120431,6 +120673,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T22:43:03Z xsd:da id: HP:0031565 name: Abdominal situs ambiguus def: "An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements." [Fyler:3817] +xref: Fyler:3817 is_a: HP:0011620 ! Abnormality of abdominal situs property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T22:56:16Z xsd:dateTime @@ -120439,6 +120682,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T22:56:16Z xsd:da id: HP:0031566 name: Abnormal pulmonary valve cusp morphology def: "Any structural anomaly of the pulmonary valve leaflets." [Fyler:1652] +xref: Fyler:1652 is_a: HP:0001641 ! Abnormal pulmonary valve morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:10:58Z xsd:dateTime @@ -120447,6 +120691,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:10:58Z xsd:da id: HP:0031567 name: Abnormal aortic valve cusp morphology def: "Any structural anomaly of the aortic valve leaflets." [Fyler:1480] +xref: Fyler:1480 is_a: HP:0001646 ! Abnormal aortic valve morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:13:33Z xsd:dateTime @@ -120455,6 +120700,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:13:33Z xsd:da id: HP:0031568 name: Thickened aortic valve cusp def: "An abnormally increased thickness of a leaflet of the aortic valve." [Fyler:1486, PMID:9360334] +xref: Fyler:1486 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:18:10Z xsd:dateTime @@ -120464,6 +120710,7 @@ id: HP:0031569 name: Absent aortic valve cusps def: "A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva." [Fyler:1484, PMID:2274446] synonym: "Absent aortic valve" EXACT [] +xref: Fyler:1484 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:21:20Z xsd:dateTime @@ -120527,7 +120774,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:40:39Z xsd:da [Term] id: HP:0031577 name: Tessier number 5 facial cleft -def: "The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium." [] {comment="PMID:2503273"} +def: "The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium." [PMID:2503273] is_a: HP:0031574 ! Orbital cleft property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:42:32Z xsd:dateTime @@ -120575,7 +120822,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:49:41Z xsd:da [Term] id: HP:0031583 name: Tessier number 11 facial cleft -def: "An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal." [] {comment="PMID:2503273"} +def: "An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal." [PMID:2503273] is_a: HP:0031574 ! Orbital cleft property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:51:12Z xsd:dateTime @@ -120794,7 +121041,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-09T14:09:47Z xsd:da [Term] id: HP:0031609 name: Geographic atrophy -def: "Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium." [PMID:24158023, UManchester:psergouniotis] +def: "Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium." [ORCID:0000-0003-0986-4123, PMID:24158023] is_a: HP:0001105 ! Retinal atrophy property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-10T14:57:12Z xsd:dateTime @@ -120888,7 +121135,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:32:13Z xsd:da [Term] id: HP:0031622 name: Brown anomaly -def: "An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result." [PMID:28841851, UManchester:psergouniotis] +def: "An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result." [ORCID:0000-0003-0986-4123, PMID:28841851] synonym: "Brown syndrome" EXACT [] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -120985,6 +121232,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T01:01:57Z xsd:da id: HP:0031633 name: Isolation of the left subclavian artery def: "The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus." [MP:0011745] +xref: Fyler:2732 is_a: HP:0031251 ! Abnormal subclavian artery morphology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T01:04:45Z xsd:dateTime @@ -121320,7 +121568,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:57:22Z xsd:da [Term] id: HP:0031675 name: Fascicular left ventricular tachycardia -def: "A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG)." [] {def="PMID:29184614"} +def: "A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG)." [PMID:29184614] comment: Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic). is_a: HP:0004756 ! Ventricular tachycardia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -121558,6 +121806,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:15:42Z xsd:da id: HP:0031703 name: Abnormal ear morphology def: "Any structural anomaly of the ear." [] +xref: Fyler:4867 is_a: HP:0000598 ! Abnormality of the ear property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:20:14Z xsd:dateTime @@ -121635,7 +121884,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T11:19:37Z xsd:da [Term] id: HP:0031713 name: Constant exotropia -def: "A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times." [UManchester:psergouniotis] +def: "A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:23:11Z xsd:dateTime @@ -121643,7 +121892,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:23:11Z xsd:da [Term] id: HP:0031714 name: Distance exotropia -def: "A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittant." [UManchester:psergouniotis] +def: "A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittant." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:25:53Z xsd:dateTime @@ -121651,7 +121900,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:25:53Z xsd:da [Term] id: HP:0031715 name: Near exotropia -def: "An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant)." [UManchester:psergouniotis] +def: "An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant)." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:30:16Z xsd:dateTime @@ -121659,7 +121908,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:30:16Z xsd:da [Term] id: HP:0031716 name: Cyclic exotropia -def: "A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle." [UManchester:psergouniotis] +def: "A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:31:56Z xsd:dateTime @@ -121667,7 +121916,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:31:56Z xsd:da [Term] id: HP:0031717 name: Alternating exotropia -def: "A type of exotropia in which either eye may be used for fixation." [UManchester:psergouniotis] +def: "A type of exotropia in which either eye may be used for fixation." [ORCID:0000-0003-0986-4123] synonym: "Alternating strabismus" EXACT [] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -121676,7 +121925,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:33:37Z xsd:da [Term] id: HP:0031718 name: Consecutive exotropia -def: "Exotropia in an individual who has previously had esotropia or esophoria." [UManchester:psergouniotis] +def: "Exotropia in an individual who has previously had esotropia or esophoria." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:36:10Z xsd:dateTime @@ -121684,7 +121933,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:36:10Z xsd:da [Term] id: HP:0031719 name: True distance exotropia -def: "Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits." [] {comment="UManchester:psergouniotis"} +def: "Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits." [ORCID:0000-0003-0986-4123] is_a: HP:0031714 ! Distance exotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:40:43Z xsd:dateTime @@ -121700,7 +121949,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:40:55Z xsd:da [Term] id: HP:0031721 name: Sensory exotropia -synonym: "A type of divergent strabismus (exotropia) that develops in a poorly seeing eye." EXACT [UManchester:psergouniotis] +synonym: "A type of divergent strabismus (exotropia) that develops in a poorly seeing eye." EXACT [ORCID:0000-0003-0986-4123] synonym: "Secondary exotropia" EXACT [] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -121709,7 +121958,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:03:40Z xsd:da [Term] id: HP:0031722 name: Near esotropia -def: "An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved." [UManchester:psergouniotis] +def: "An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved." [ORCID:0000-0003-0986-4123] synonym: "Non-accomodative convergence excess esotropia" EXACT [] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -121717,7 +121966,9 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:06:56Z xsd:da [Term] id: HP:0031723 -name: Sensory esotropia +name: Secondary esotropia +def: "Convergent squint which follows loss or impairment of vision." [ORCID:0000-0003-0986-4123] +synonym: "Sensory esotropia" EXACT [] is_a: HP:0000565 ! Esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:08:58Z xsd:dateTime @@ -121725,7 +121976,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:08:58Z xsd:da [Term] id: HP:0031724 name: Microtropia -def: "A small angle heterotropia (usually of 10 dioptres or less) in which a form of binocular single vision occurs." [UManchester:psergouniotis] +def: "A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs." [ORCID:0000-0003-0986-4123] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:16:59Z xsd:dateTime @@ -121733,7 +121984,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:16:59Z xsd:da [Term] id: HP:0031725 name: Hypophoria -def: "A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards." [UManchester:psergouniotis] +def: "A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards." [ORCID:0000-0003-0986-4123] is_a: HP:0025588 ! Hypodeviation property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:23:16Z xsd:dateTime @@ -121741,8 +121992,8 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:23:16Z xsd:da [Term] id: HP:0031726 name: Incyclotropia -def: "A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other." [UManchester:psergouniotis] -is_a: HP:0025589 ! Cyclodeviation +def: "A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other." [ORCID:0000-0003-0986-4123] +is_a: HP:0031776 ! Cyclotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-14T15:35:57Z xsd:dateTime @@ -121750,14 +122001,15 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-14T15:35:57Z xsd:da id: HP:0031727 name: Excyclotropia def: "A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other." [UManchster:psergouniotis] -is_a: HP:0025589 ! Cyclodeviation +is_a: HP:0031776 ! Cyclotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-14T15:39:16Z xsd:dateTime [Term] id: HP:0031728 name: Mild hypermetropia -def: "A form of hypermetropia with not more that +2.00 diopters." [UManchester:psergouniotis] +def: "A form of hypermetropia with not more that +2.00 diopters." [ORCID:0000-0003-0986-4123] +synonym: "Mild hyperopia" EXACT [] is_a: HP:0000540 ! Hypermetropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:18:26Z xsd:dateTime @@ -121765,7 +122017,8 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:18:26Z xsd:da [Term] id: HP:0031729 name: Moderate hypermetropia -def: "A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters." [UManchester:psergouniotis] +def: "A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters." [ORCID:0000-0003-0986-4123] +synonym: "Moderate hyperopia" EXACT [] is_a: HP:0000540 ! Hypermetropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:20:25Z xsd:dateTime @@ -121773,7 +122026,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:20:25Z xsd:da [Term] id: HP:0031730 name: Axial myopia -def: "A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye." [PMID:24113300, UManchester:psergouniotis] +def: "A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye." [ORCID:0000-0003-0986-4123, PMID:24113300] is_a: HP:0000545 ! Myopia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:22:58Z xsd:dateTime @@ -121781,7 +122034,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:22:58Z xsd:da [Term] id: HP:0031731 name: Increased tear production -def: "Increased lacrimation owing to overproduction of tears." [] +def: "Increased lacrimation owing to overproduction of tears." [ORCID:0000-0003-0986-4123] is_a: HP:0009926 ! Epiphora property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:27:49Z xsd:dateTime @@ -121789,6 +122042,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:27:49Z xsd:da [Term] id: HP:0031732 name: Increased basal tear production +def: "A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance." [ORCID:0000-0003-0986-4123] is_a: HP:0031731 ! Increased tear production property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:29:32Z xsd:dateTime @@ -121796,6 +122050,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:29:32Z xsd:da [Term] id: HP:0031733 name: Reflex tearing +def: "A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease)." [ORCID:0000-0003-0986-4123] is_a: HP:0031731 ! Increased tear production property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:32:30Z xsd:dateTime @@ -121803,7 +122058,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:32:30Z xsd:da [Term] id: HP:0031734 name: Lacrimal pump failure -def: "Reduced tear outflow is due to tear pump dysfunction and associated with increased tearing." [] +def: "A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion." [ORCID:0000-0003-0986-4123] is_a: HP:0009926 ! Epiphora property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:36:29Z xsd:dateTime @@ -121811,7 +122066,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:36:29Z xsd:da [Term] id: HP:0031736 name: Involutional entropion -def: "An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle." [UManchester:psergouniotis] +def: "An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0000621 ! Entropion property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:40:49Z xsd:dateTime @@ -121819,7 +122074,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:40:49Z xsd:da [Term] id: HP:0031737 name: Cicatricial entropion -def: "Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid." [UManchester:psergouniotis] +def: "Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid." [ORCID:0000-0003-0986-4123] is_a: HP:0000621 ! Entropion property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:41:39Z xsd:dateTime @@ -121827,7 +122082,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:41:39Z xsd:da [Term] id: HP:0031738 name: Mechanical entropion -def: "A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe." [] {comment="UManchester:psergouniotis"} +def: "A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe." [ORCID:0000-0003-0986-4123] is_a: HP:0000621 ! Entropion property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:42:52Z xsd:dateTime @@ -121835,7 +122090,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:42:52Z xsd:da [Term] id: HP:0031739 name: Abnormal oblique muscle physiology -def: "A functional anomaly of the inferior or superior oblique muscle." [UManchester:psergouniotis] +def: "A functional anomaly of the inferior or superior oblique muscle." [ORCID:0000-0003-0986-4123] comment: The superior oblique muscle is responsible for incyclotorsion (inward turning) or the eye. The inferior oblique muscle is responsible for excyclotorsion (outward turning) or the eye. is_a: HP:0025590 ! Abnormal extraocular muscle physiology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -121852,7 +122107,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:56:55Z xsd:da [Term] id: HP:0031741 name: Inferior oblique muscle underaction -def: "Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy." [UManchester:psergouniotis] +def: "Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0025598 ! Inferior oblique muscle weakness property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:05:23Z xsd:dateTime @@ -121860,7 +122115,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:05:23Z xsd:da [Term] id: HP:0031742 name: Inferior rectus muscle underaction -def: "Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [UManchester:psergouniotis] +def: "Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0025601 ! Inferior rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:07:33Z xsd:dateTime @@ -121868,7 +122123,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:07:33Z xsd:da [Term] id: HP:0031743 name: Inferior rectus muscle overaction -def: "Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [UManchester:psergouniotis] +def: "Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [ORCID:0000-0003-0986-4123] is_a: HP:0025600 ! Abnormal inferior rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:09:20Z xsd:dateTime @@ -121884,7 +122139,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:10:55Z xsd:da [Term] id: HP:0031745 name: Superior rectus muscle overaction -def: "Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [UManchester:psergouniotis] +def: "Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [ORCID:0000-0003-0986-4123] is_a: HP:0025603 ! Abnormal superior rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:11:53Z xsd:dateTime @@ -121892,7 +122147,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:11:53Z xsd:da [Term] id: HP:0031746 name: Superior rectus muscle rescriction -def: "Mechanical limitation of the range of movement of the superior rectus muscle." [UManchester:psergouniotis] +def: "Mechanical limitation of the range of movement of the superior rectus muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. is_a: HP:0031744 ! Superior rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -121901,7 +122156,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:13:01Z xsd:da [Term] id: HP:0031747 name: Superior rectus muscle underaction -def: "Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [UManchester:psergouniotis] +def: "Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0031744 ! Superior rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:16:34Z xsd:dateTime @@ -121909,7 +122164,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:16:34Z xsd:da [Term] id: HP:0031748 name: Abnormal vertical rectus muscle physiology -def: "A functional anomaly of the superior or inferior rectus muscle." [UManchester:psergouniotis] +def: "A functional anomaly of the superior or inferior rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0031755 ! Abnormal rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:18:23Z xsd:dateTime @@ -121926,7 +122181,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:19:56Z xsd:da [Term] id: HP:0031750 name: Lateral rectus muscle weakness -def: "Decreased strength (ability to move) of the lateral rectus muscle." [UManchester:psergouniotis] +def: "Decreased strength (ability to move) of the lateral rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0031749 ! Abnormal lateral rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:21:25Z xsd:dateTime @@ -121934,7 +122189,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:21:25Z xsd:da [Term] id: HP:0031751 name: Lateral rectus muscle underaction -def: "Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [UManchester:psergouniotis] +def: "Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0031750 ! Lateral rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:23:28Z xsd:dateTime @@ -121950,7 +122205,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:24:41Z xsd:da [Term] id: HP:0031753 name: Medial rectus muscle weakness -def: "Decreased strength of the medial rectus muscle." [UManchester:psergouniotis] +def: "Decreased strength of the medial rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0025606 ! Abnormal medial rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:25:38Z xsd:dateTime @@ -121966,7 +122221,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:26:34Z xsd:da [Term] id: HP:0031755 name: Abnormal rectus muscle physiology -def: "A functional anomaly of a vertical or horizontal rectus muscle." [] {comment="UManchester:psergouniotis"} +def: "A functional anomaly of a vertical or horizontal rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0025590 ! Abnormal extraocular muscle physiology property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:27:36Z xsd:dateTime @@ -121974,7 +122229,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:27:36Z xsd:da [Term] id: HP:0031756 name: Medial rectus muscle underaction -def: "Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [UManchester:psergouniotis] +def: "Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0031753 ! Medial rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:29:07Z xsd:dateTime @@ -121982,7 +122237,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:29:07Z xsd:da [Term] id: HP:0031757 name: Medial rectus muscle restriction -def: "Mechanical limitation of the range of movement of the medial rectus muscle." [] {comment="UManchester:psergouniotis"} +def: "Mechanical limitation of the range of movement of the medial rectus muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. is_a: HP:0031753 ! Medial rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string @@ -121999,7 +122254,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:33:00Z xsd:da [Term] id: HP:0031759 name: Basic (constant) esotropia -def: "A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times)." [UManchester:psergouniotis] +def: "A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times)." [ORCID:0000-0003-0986-4123] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:43:58Z xsd:dateTime @@ -122007,6 +122262,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:43:58Z xsd:da [Term] id: HP:0031760 name: Non-accomodative esotropia +def: "A form of esotropia in which the angle of deviation is not affected by accommodative effort." [ORCID:0000-0003-0986-4123] is_a: HP:0000565 ! Esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:46:28Z xsd:dateTime @@ -122021,6 +122277,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:01Z xsd:da [Term] id: HP:0031762 name: Distance esotropia +def: "An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging." [] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:19Z xsd:dateTime @@ -122028,7 +122285,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:19Z xsd:da [Term] id: HP:0031763 name: Cyclic esotropia -def: "Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle." [UManchester:psergouniotis] +def: "Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle." [ORCID:0000-0003-0986-4123] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:29Z xsd:dateTime @@ -122036,6 +122293,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:29Z xsd:da [Term] id: HP:0031764 name: Fully accomodative esotropia +def: "Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction." [ORCID:0000-0003-0986-4123] is_a: HP:0020046 ! Accommodative esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:50Z xsd:dateTime @@ -122043,6 +122301,9 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:50Z xsd:da [Term] id: HP:0031765 name: Partially accomodative esotropia +def: "A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses." [ORCID:0000-0003-0986-4123] +synonym: "Constant esotropia with an accommodative component" EXACT [] +synonym: "Constant esotropia with an accommodative element" EXACT [] is_a: HP:0020046 ! Accommodative esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:00Z xsd:dateTime @@ -122050,6 +122311,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:00Z xsd:da [Term] id: HP:0031766 name: Convergence excess esotropia +def: "An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio." [ORCID:0000-0003-0986-4123] is_a: HP:0020046 ! Accommodative esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:11Z xsd:dateTime @@ -122057,6 +122319,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:11Z xsd:da [Term] id: HP:0031767 name: Consecutive esotropia +def: "Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent. and usually follows surgical overcorrection." [ORCID:0000-0003-0986-4123] is_a: HP:0000565 ! Esotropia property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:32Z xsd:dateTime @@ -122064,7 +122327,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:32Z xsd:da [Term] id: HP:0031768 name: Parafoveal fixation -def: "Fixation of an object in the area adjacent to the fovea." [UManchester:psergouniotis] +def: "Fixation of an object in the area adjacent to the fovea." [ORCID:0000-0003-0986-4123] is_a: HP:0025549 ! Eccentric visual fixation property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:54:21Z xsd:dateTime @@ -122072,7 +122335,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:54:21Z xsd:da [Term] id: HP:0031769 name: Peripheral fixation -def: "Fixation of an object in a peripheral area of the retina." [] {comment="UManchester:psergouniotis"} +def: "Fixation of an object in a peripheral area of the retina." [ORCID:0000-0003-0986-4123] is_a: HP:0025549 ! Eccentric visual fixation property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:55:27Z xsd:dateTime @@ -122080,7 +122343,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:55:27Z xsd:da [Term] id: HP:0031770 name: Epicanthus palpebralis -def: "A type of epicanthus in which a medial vertical fold is present between upper and lower lids." [UManchester:psergouniotis] +def: "A type of epicanthus in which a medial vertical fold is present between upper and lower lids." [ORCID:0000-0003-0986-4123] is_a: HP:0000286 ! Epicanthus property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-25T11:23:16Z xsd:dateTime @@ -122088,31 +122351,311 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-01-25T11:23:16Z xsd:da [Term] id: HP:0031771 name: Epicanthus tarsalis -def: "A type of epicanthus in which a primarily upper lid fold is present." [] {comment="UManchester:psergouniotis"} +def: "A type of epicanthus in which a primarily upper lid fold is present." [ORCID:0000-0003-0986-4123] comment: Epicanthus tarsalis is a normal anatomic variant in the Asian population. is_a: HP:0000286 ! Epicanthus property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-25T11:24:33Z xsd:dateTime +[Term] +id: HP:0031772 +name: Abnormal posterior circulating artery morphology +def: "Any structural anomaly of the posterior circulating artery (PCOM)." [] +comment: The posterior circulating artery (PCOM) forms the posterior portion of the circle of Willis, connecting the interior carotid artery (proximal to its bifurcation into the anterior cerebral artery and the middle cerebral artery) with the posterior cerebral artery. +is_a: HP:0012518 ! Abnormal circle of Willis morphology +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:25:13Z xsd:dateTime + +[Term] +id: HP:0031773 +name: Posterior communicating artery aneurysm +def: "A widening (ballooning) localized in the wall of the posterior communicating artery." [] +comment: Posterior communicating artery aneurysm can leads to an acute palsy of the third cranial nerve with ipsilateral pupil dilation. Posterior communicating aneurysms can be classified into aneurysms that project laterally and below the tentorial incisura and cause oculomotor nerve compression, and aneurysms that project laterally above the tentorium that can manifest as temporal lobe hematoma if they rupture. +is_a: HP:0031772 ! Abnormal posterior circulating artery morphology +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:27:22Z xsd:dateTime + +[Term] +id: HP:0031774 +name: Posterior communicating artery infundibulum +def: "A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery." [PMID:9848859] +comment: PCOM infundibula are often considered as normal anatomical variants devoid of pathogenic significance, but have been noted to progress to aneurysms in some cases. +is_a: HP:0031772 ! Abnormal posterior circulating artery morphology +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:28:34Z xsd:dateTime + +[Term] +id: HP:0031775 +name: Neurogenic strabismus +def: "An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them." [ORCID:0000-0003-0986-4123] +synonym: "Paralytic strabismus" EXACT [] +is_a: HP:0000486 ! Strabismus +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:35:03Z xsd:dateTime + +[Term] +id: HP:0031776 +name: Cyclotropia +def: "A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia)." [ORCID:0000-0003-0986-4123] +is_a: HP:0025589 ! Cyclodeviation +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:38:31Z xsd:dateTime + +[Term] +id: HP:0031777 +name: Cyclophoria +def: "A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation." [ORCID:0000-0003-0986-4123] +is_a: HP:0025589 ! Cyclodeviation +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:40:02Z xsd:dateTime + +[Term] +id: HP:0031778 +name: Incyclophoria +def: "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other." [ORCID:0000-0003-0986-4123] +is_a: HP:0031777 ! Cyclophoria +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:40:45Z xsd:dateTime + +[Term] +id: HP:0031779 +name: Excyclophoria +def: "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other." [] +is_a: HP:0031777 ! Cyclophoria +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:47:57Z xsd:dateTime + +[Term] +id: HP:0031780 +name: Eosinophilic ascites +def: "A type of ascites in which there are large numbers of eosinophils in the ascitis fluid." [PMID:27721930] +is_a: HP:0001541 ! Ascites +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T12:22:52Z xsd:dateTime + +[Term] +id: HP:0031781 +name: Microtropia with identity +def: "A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC." [ORCID:0000-0003-0986-4123, PMID:9602615] +is_a: HP:0031724 ! Microtropia +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T11:42:09Z xsd:dateTime + +[Term] +id: HP:0031782 +name: Microtropia without identity +def: "A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test." [ORCID:0000-0003-0986-4123, PMID:9602615] +is_a: HP:0031724 ! Microtropia +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T11:44:11Z xsd:dateTime + +[Term] +id: HP:0031783 +name: Absent coronary sinus +def: "A developmental defect in which the coronary sinus fails to form." [HPO:nvasilevsky, PMID:24551710] +xref: Fyler:2841 +is_a: HP:0011642 ! Abnormal coronary sinus morphology +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:02:56Z xsd:dateTime + +[Term] +id: HP:0031784 +name: Abnormal ascending aorta morphology +def: "Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise." [MP:0009867] +xref: Fyler:1431 +is_a: HP:0001679 ! Abnormal aortic morphology +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:14:30Z xsd:dateTime + +[Term] +id: HP:0031785 +name: Abnormal eyelid movement +def: "An abnormality in voluntary or involuntary eyelid movements or their control." [] +is_a: HP:0012373 ! Abnormal eye physiology +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:51:02Z xsd:dateTime + +[Term] +id: HP:0031786 +name: Cogan lid twitch +def: "Transient eyelid retraction during refixation from down to straight ahead." [ORCID:0000-0003-0986-4123] +synonym: "Cogan eyelid twitch" EXACT [] +synonym: "Eyelid twitch" EXACT [] +synonym: "Lid twitch" EXACT [] +is_a: HP:0031785 ! Abnormal eyelid movement +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:52:25Z xsd:dateTime + +[Term] +id: HP:0031787 +name: Oblique astigmatism +def: "Astigmatism in which the refractive power of the vertical meridian is the greatest." [ORCID:0000-0003-0986-4123] +is_a: HP:0000483 ! Astigmatism +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:31:31Z xsd:dateTime + +[Term] +id: HP:0031788 +name: With the rule astigmatism +def: "Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest)." [ORCID:0000-0003-0986-4123] +is_a: HP:0000483 ! Astigmatism +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:33:42Z xsd:dateTime + +[Term] +id: HP:0031789 +name: Against the rule astigmatism +def: "Astigmatism with more plus power on the horizontal meridian." [] +is_a: HP:0000483 ! Astigmatism +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:36:27Z xsd:dateTime + +[Term] +id: HP:0031790 +name: Mixed astigmatism +def: "A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted)." [ORCID:0000-0003-0986-4123] +is_a: HP:0000483 ! Astigmatism +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:37:32Z xsd:dateTime + +[Term] +id: HP:0031791 +name: Lenticular astigmatism +def: "A type of astigmatism related to an irregular shape of the lens." [] +is_a: HP:0000483 ! Astigmatism +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:40:22Z xsd:dateTime + +[Term] +id: HP:0031792 +name: Irregular astigmatism +def: "A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision." [] +is_a: HP:0000483 ! Astigmatism +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:51:36Z xsd:dateTime + +[Term] +id: HP:0031793 +name: Increased serum leptin +def: "An increased concentration of leptin in the blood." [RGD:sjwang] +synonym: "Elevated circulating leptin level" EXACT [] +is_a: HP:0004361 ! Abnormality of circulating leptin level +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:05:58Z xsd:dateTime + +[Term] +id: HP:0031794 +name: Decreased circulating glycerol level +def: "A decrease below the normal concentration of glycerol in the blood." [] +is_a: HP:0031795 ! Abnormal circulating glycerol level +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:13:06Z xsd:dateTime + +[Term] +id: HP:0031795 +name: Abnormal circulating glycerol level +def: "Any deviation from the normal concentration of glycerol in the blood." [] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:28:46Z xsd:dateTime + +[Term] +id: HP:0031796 +name: Recurrent +def: "Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present." [] +synonym: "Intermittent" EXACT [] +is_a: HP:0011008 ! Temporal pattern +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:40:47Z xsd:dateTime + +[Term] +id: HP:0031797 +name: Clinical course +def: "The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual." [] +synonym: "Natural history of disease" RELATED [] +is_a: HP:0000001 ! All +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:55:46Z xsd:dateTime + +[Term] +id: HP:0031798 +name: Elevated apolipoprotein B level +def: "Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100." [ORCID:0000-0001-5356-4174] +synonym: "Elevated ApoB level" EXACT [] +is_a: HP:0025201 ! Abnormal apolipoprotein level +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:02:46Z xsd:dateTime + +[Term] +id: HP:0031799 +name: Decreased apolipoprotein AI level +def: "Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease." [ORCID:0000-0001-5356-4174] +synonym: "Decreased apo-AI level" EXACT [] +synonym: "Decreased apoA-I level" EXACT [] +is_a: HP:0025201 ! Abnormal apolipoprotein level +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:04:10Z xsd:dateTime + +[Term] +id: HP:0031800 +name: Elevated apolipoprotein A-II level +def: "An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism." [ORCID:0000-0001-5356-4174] +synonym: "Elevated Apo-AII level" EXACT [] +synonym: "Elevated apoA-II level" EXACT [] +synonym: "Elevated APOAII level" EXACT [] +is_a: HP:0025201 ! Abnormal apolipoprotein level +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:06:30Z xsd:dateTime + +[Term] +id: HP:0031801 +name: Vocal cord dysfunction +def: "Any functional anomaly of the vocal cord." [] +is_a: HP:0001608 ! Abnormality of the voice +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-04T12:07:39Z xsd:dateTime + +[Term] +id: HP:0031803 +name: Fundus hemorrhage +def: "Bleeding within the fundus of the eye." [] +is_a: HP:0001098 ! Abnormal fundus morphology +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:30:14Z xsd:dateTime + +[Term] +id: HP:0031804 +name: Premacular hemorrhage +is_a: HP:0025240 ! Preretinal hemorrhage +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:32:12Z xsd:dateTime + +[Term] +id: HP:0031805 +name: Intraretinal hemorrhage +is_a: HP:0000573 ! Retinal hemorrhage +property_value: http://purl.org/dc/elements/1.1/creator "peter" xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:35:11Z xsd:dateTime + [Term] id: HP:0040004 name: Abnormality of corneal shape xref: UMLS:C4022500 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: HPO:skoehler [Term] id: HP:0040006 name: Mortality/Aging xref: UMLS:C4022499 -is_a: HP:0000001 ! All +is_a: HP:0031797 ! Clinical course created_by: HPO:skoehler [Term] id: HP:0040007 name: Absent pigmentation of chest def: "Lack of skin pigmentation (coloring) of the chest." [HPO:skoehler] -synonym: "Lack of skin coloring on chest" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Lack of skin coloring on chest" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022498 is_a: HP:0200098 ! Absent skin pigmentation created_by: HPO:skoehler @@ -122120,12 +122663,12 @@ created_by: HPO:skoehler [Term] id: HP:0040008 name: Aplasia of facial bones -synonym: "Absence of facial bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of facial bones" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of facial skeleton" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of facial bones" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of facial skeleton" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing facial bones" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of facial bones" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of facial skeleton" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1385254 xref: UMLS:C4022497 xref: UMLS:C4280300 @@ -122195,7 +122738,7 @@ created_by: HPO:skoehler [Term] id: HP:0040016 name: Prominent coccyx -synonym: "Prominent tailbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Prominent tailbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022490 is_a: HP:0008519 ! Abnormality of the coccyx created_by: HPO:skoehler @@ -122203,7 +122746,7 @@ created_by: HPO:skoehler [Term] id: HP:0040017 name: Protruding coccyx -synonym: "Protruding tailbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Protruding tailbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022489 is_a: HP:0008519 ! Abnormality of the coccyx created_by: HPO:skoehler @@ -122211,7 +122754,7 @@ created_by: HPO:skoehler [Term] id: HP:0040018 name: Clinodactyly of hallux -synonym: "Curvature of big toe" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of big toe" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022488 xref: UMLS:C4280299 is_a: HP:0001863 ! Toe clinodactyly @@ -122221,7 +122764,7 @@ created_by: HPO:skoehler [Term] id: HP:0040019 name: Finger clinodactyly -synonym: "Curvature of finger" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:17268007 xref: UMLS:C0265610 xref: UMLS:C4280298 @@ -122248,7 +122791,7 @@ created_by: HPO:skoehler [Term] id: HP:0040022 name: Clinodactyly of the 2nd finger -synonym: "Curvature of index finger" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of index finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022486 is_a: HP:0009468 ! Deviation of the 2nd finger is_a: HP:0040019 ! Finger clinodactyly @@ -122257,7 +122800,7 @@ created_by: HPO:skoehler [Term] id: HP:0040023 name: Clinodactyly of the thumb -synonym: "Curvature of thumb" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of thumb" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856888 xref: UMLS:C4280297 is_a: HP:0009603 ! Deviation of the thumb @@ -122267,7 +122810,7 @@ created_by: HPO:skoehler [Term] id: HP:0040024 name: Clinodactyly of the 3rd finger -synonym: "Curvature of middle finger" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of middle finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022485 xref: UMLS:C4280296 is_a: HP:0009317 ! Deviation of the 3rd finger @@ -122277,7 +122820,7 @@ created_by: HPO:skoehler [Term] id: HP:0040025 name: Clinodactyly of the 4th finger -synonym: "Curvature of ring finger" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curvature of ring finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022484 xref: UMLS:C4280295 is_a: HP:0009273 ! Deviation of the 4th finger @@ -122301,11 +122844,11 @@ created_by: HPO:skoehler [Term] id: HP:0040032 name: Hypoplasia of the upper eyelids -synonym: "Decreased size of upper eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic upper eyelid" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Short upper eyelid" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small upper eyelid" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of upper eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic upper eyelid" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Short upper eyelid" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Small upper eyelid" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022481 is_a: HP:0430009 ! Hypoplasia of eyelid created_by: HPO:skoehler @@ -122313,8 +122856,8 @@ created_by: HPO:skoehler [Term] id: HP:0040033 name: Aplasia/Hypoplasia of the fifth metatarsal bone -synonym: "Absent/small 5th long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped 5th long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022480 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone @@ -122323,7 +122866,7 @@ created_by: HPO:skoehler [Term] id: HP:0040034 name: Abnormality of the second metatarsal bone -synonym: "Abnormality of the 2nd long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022479 is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: HPO:skoehler @@ -122331,7 +122874,7 @@ created_by: HPO:skoehler [Term] id: HP:0040035 name: Abnormality of the fourth metatarsal bone -synonym: "Abnormality of the 4th long bone of foot" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022478 is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: HPO:skoehler @@ -122340,7 +122883,7 @@ created_by: HPO:skoehler id: HP:0040036 name: Onychogryposis of fingernail def: "Thickened fingernails." [] -synonym: "Overgrowth and curving of fingernail" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Overgrowth and curving of fingernail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022477 is_a: HP:0001805 ! Thick nail created_by: HPO:skoehler @@ -122362,7 +122905,7 @@ created_by: HPO:skoehler [Term] id: HP:0040039 name: Onycholysis of fingernails -synonym: "Detachment of fingernails" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Detachment of fingernails" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Onycholysis of fingernail" EXACT [] xref: UMLS:C3553044 is_a: HP:0001231 ! Abnormality of the fingernails @@ -122372,7 +122915,7 @@ created_by: HPO:skoehler [Term] id: HP:0040040 name: Onycholysis of toenails -synonym: "Detachment of toenails" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Detachment of toenails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022476 is_a: HP:0001806 ! Onycholysis is_a: HP:0008388 ! Abnormal toenail morphology @@ -122381,7 +122924,7 @@ created_by: HPO:skoehler [Term] id: HP:0040042 name: Aplasia of the eccrine sweat glands -synonym: "Absent eccrine sweat glands" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent eccrine sweat glands" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022475 is_a: HP:0007592 ! Aplasia/Hypoplastia of the eccrine sweat glands is_a: HP:0011136 ! Aplasia of the sweat glands @@ -122390,7 +122933,7 @@ created_by: HPO:skoehler [Term] id: HP:0040043 name: Hypoplasia of the eccrine sweat glands -synonym: "Underdeveloped major sweat glands" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Underdeveloped major sweat glands" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022474 is_a: HP:0007387 ! Hypoplastic sweat glands is_a: HP:0007592 ! Aplasia/Hypoplastia of the eccrine sweat glands @@ -122399,7 +122942,7 @@ created_by: HPO:skoehler [Term] id: HP:0040044 name: Hypoplasia of the diaphragm -synonym: "Underdeveloped diaphragm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022473 is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm created_by: HPO:skoehler @@ -122435,7 +122978,7 @@ created_by: HPO:skoehler [Term] id: HP:0040049 name: Macular edema -def: "Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease." [UManchester:psergouniotis] +def: "Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease." [ORCID:0000-0003-0986-4123] synonym: "Macular oedema" EXACT HP:0045076 [] xref: MSH:D008269 xref: SNOMEDCT_US:37231002 @@ -122447,8 +122990,8 @@ created_by: HPO:skoehler [Term] id: HP:0040050 name: Sparse upper eyelashes -synonym: "Hypotrichosis of upper eyelashes" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Partial absence of upper eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hypotrichosis of upper eyelashes" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Partial absence of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Sparse upper eyelashes" EXACT layperson [] xref: UMLS:C4022468 is_a: HP:0000653 ! Sparse eyelashes @@ -122475,7 +123018,7 @@ created_by: HPO:skoehler id: HP:0040053 name: Long lower eyelashes synonym: "Ciliary trichomegaly of lower eyelashes" EXACT [] -synonym: "Increased length of lower eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased length of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long lower eyelashes" EXACT layperson [] xref: UMLS:C4022465 is_a: HP:0000527 ! Long eyelashes @@ -122485,7 +123028,7 @@ created_by: HPO:skoehler [Term] id: HP:0040054 name: Short upper eyelashes -synonym: "Decreased length of upper eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short upper eyelashes" EXACT layperson [] xref: UMLS:C4022464 is_a: HP:0010764 ! Short eyelashes @@ -122495,7 +123038,7 @@ created_by: HPO:skoehler [Term] id: HP:0040055 name: Short lower eyelashes -synonym: "Decreased length of lower eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased length of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short lower eyelashes" EXACT layperson [] xref: UMLS:C4022463 is_a: HP:0010764 ! Short eyelashes @@ -122506,10 +123049,10 @@ created_by: HPO:skoehler id: HP:0040056 name: Absent upper eyelashes synonym: "Absent upper eyelashes" EXACT layperson [] -synonym: "Agenesis of upper eyelashes" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Aplasia of upper eyelashes" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Agenesis of upper eyelashes" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Aplasia of upper eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Atrichia of upper eyelashes" EXACT [] -synonym: "Failure of development of upper eyelashes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Failure of development of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022462 xref: UMLS:C4280255 xref: UMLS:C4280294 @@ -122520,7 +123063,7 @@ created_by: HPO:skoehler id: HP:0040057 name: Abnormality of nasal hair synonym: "Abnormality of nasal hair" EXACT layperson [] -synonym: "Abnormality of nose hair" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of nose hair" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021858 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0100037 ! Abnormality of the scalp hair @@ -122554,7 +123097,7 @@ created_by: HPO:skoehler [Term] id: HP:0040063 name: Decreased adipose tissue -synonym: "Decreased fat tissue" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Decreased fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022459 is_a: HP:0009124 ! Abnormal adipose tissue morphology created_by: HPO:skoehler @@ -122574,7 +123117,7 @@ created_by: HPO:skoehler [Term] id: HP:0040065 name: Abnormal morphology of bones of the upper limbs -synonym: "Abnormal shape of bones of the upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022458 is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0040070 ! Abnormality of upper limb bone @@ -122583,7 +123126,7 @@ created_by: HPO:skoehler [Term] id: HP:0040066 name: Abnormal morphology of bones of the lower limbs -synonym: "Abnormal shape of bones of the lower limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022457 is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0040069 ! Abnormality of lower limb bone @@ -122622,7 +123165,7 @@ name: Abnormal morphology of ulna xref: UMLS:C4022453 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0011314 ! Abnormality of long bone morphology -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology created_by: HPO:skoehler [Term] @@ -122636,8 +123179,8 @@ created_by: HPO:skoehler [Term] id: HP:0040073 -name: Abnormal morphology of forearm bone -synonym: "Abnormal shape of of forearm bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +name: Abnormal forearm bone morphology +synonym: "Abnormal shape of of forearm bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022451 is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040072 ! Abnormality of forearm bone @@ -122655,7 +123198,7 @@ created_by: HPO:skoehler [Term] id: HP:0040077 name: Abnormal concentration of calcium in blood -synonym: "Abnormal blood calcium levels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal blood calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022450 is_a: HP:0004363 ! Abnormality of calcium homeostasis created_by: HPO:skoehler @@ -122670,7 +123213,7 @@ created_by: HPO:skoehler [Term] id: HP:0040079 name: Irregular dentition -synonym: "Irregular teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Irregular teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856765 is_a: HP:0000164 ! Abnormality of the dentition created_by: HPO:skoehler @@ -122776,7 +123319,7 @@ id: HP:0040090 name: Abnormality of the tympanic membrane def: "An abnormality of the tympanic membrane" [] comment: The tympanic membrane is considered to be the border of middle and outer ear. -synonym: "Abnormality of the eardrum" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the eardrum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022447 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0000370 ! Abnormality of the middle ear @@ -122801,7 +123344,7 @@ created_by: HPO:skoehler [Term] id: HP:0040093 name: Asymmetry of the position of the ears -synonym: "Uneven ears" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven ears" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022444 is_a: HP:0010722 ! Asymmetry of the ears created_by: HPO:skoehler @@ -122810,7 +123353,7 @@ created_by: HPO:skoehler id: HP:0040095 name: Neoplasm of the outer ear def: "A tumor (abnormal growth of tissue) of the outer ear." [HPO:probinson] -synonym: "Outer ear tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Outer ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022443 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0012780 ! Neoplasm of the ear @@ -122820,7 +123363,7 @@ created_by: HPO:skoehler id: HP:0040096 name: Neoplasm of the inner ear def: "A tumor (abnormal growth of tissue) of the inner ear." [HPO:probinson] -synonym: "Inner ear tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inner ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1512779 is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0012780 ! Neoplasm of the ear @@ -122970,7 +123513,7 @@ created_by: HPO:skoehler [Term] id: HP:0040116 name: Aplasia of the Eustachian tube -synonym: "Absent eustachian tube" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent eustachian tube" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:75231006 xref: UMLS:C0266616 is_a: HP:0040115 ! Abnormality of the Eustachian tube @@ -123100,11 +123643,11 @@ created_by: HPO:skoehler [Term] id: HP:0040134 name: Abnormal hepatic iron concentration -synonym: "Abnormal liver iron concentration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal liver iron concentration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal liver iron level" EXACT [HPO:skoehler] xref: UMLS:C4022420 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0011031 ! Abnormality of iron homeostasis +is_a: HP:0410042 ! Abnormal liver morphology created_by: HPO:skoehler [Term] @@ -123183,6 +123726,7 @@ created_by: HPO:skoehler [Term] id: HP:0040144 name: L-2-hydroxyglutaric aciduria +def: "An increase in the level of L-2-hydroxyglutaric acid in the urine." [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:237961001 xref: UMLS:C1855995 is_a: HP:0003215 ! Dicarboxylic aciduria @@ -123221,9 +123765,9 @@ created_by: HPO:skoehler [Term] id: HP:0040149 name: Woolly scalp hair -synonym: "Afro-textured scalp hair" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Kinky scalp hair texture" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Nappy scalp hair texture" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Afro-textured scalp hair" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Kinky scalp hair texture" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Nappy scalp hair texture" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4015203 xref: UMLS:C4280291 xref: UMLS:C4280292 @@ -123251,7 +123795,7 @@ created_by: HPO:skoehler id: HP:0040154 name: Acne inversa def: "A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses." [https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx] -synonym: "Hidradenitis suppurativa" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Hidradenitis suppurativa" EXACT [ORCID:0000-0001-5208-3432] synonym: "Pyoderma fistulans significa" EXACT [PMID:23439959] synonym: "Smoker's boils" EXACT [PMID:23439959] synonym: "Verneuil's disease" EXACT [PMID:23439959] @@ -123296,8 +123840,8 @@ created_by: HPO:skoehler id: HP:0040159 name: Abnormal spaced incisors synonym: "Abnormal spaced incisors" EXACT layperson [] -synonym: "Abnormality of spacing of front teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of spacing of incisors" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of spacing of front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of spacing of incisors" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022410 is_a: HP:0011062 ! Misalignment of incisors created_by: HPO:skoehler @@ -123330,14 +123874,14 @@ is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0040163 name: Abnormal pelvis bone morphology -synonym: "Abnormal shape of pelvis bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of pelvis bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4073132 is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0040164 name: Lipomas of upper eyelids -synonym: "Fatty tumors on upper eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fatty tumors on upper eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Lipomas of upper lids" EXACT [] xref: UMLS:C4073133 is_a: HP:0000492 ! Abnormal eyelid morphology @@ -123363,8 +123907,8 @@ is_a: HP:0000924 ! Abnormality of the skeletal system id: HP:0040167 name: Facial papilloma comment: A very specific feature of Costello Syndrome -synonym: "Facial verruca" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Facial wart" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Facial verruca" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Facial wart" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:240533004 xref: UMLS:C0343643 is_a: HP:0011799 ! Abnormality of facial soft tissue @@ -123415,7 +123959,7 @@ created_by: HPO:skoehler [Term] id: HP:0040173 name: Abnormality of the tongue muscle -synonym: "Abnormality of lingual muscle" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of lingual muscle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the tongue muscle" EXACT layperson [] xref: UMLS:C4073139 is_a: HP:0003011 ! Abnormality of the musculature @@ -123425,7 +123969,7 @@ created_by: HPO:skoehler [Term] id: HP:0040174 name: Abnormality of extrinsic muscle of tongue -synonym: "Abnormality of extrinsic lingual muscle" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of extrinsic lingual muscle" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073140 is_a: HP:0040173 ! Abnormality of the tongue muscle created_by: HPO:skoehler @@ -123481,10 +124025,10 @@ name: Chapped lip def: "Cracking, fissuring, and peeling of the skin of the lips." [] synonym: "Chapped lip" EXACT layperson [] synonym: "Chapped lips" EXACT layperson [] -synonym: "Cheilitis simplex" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Common cheilitis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Cheilitis simplex" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Common cheilitis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dry lips" EXACT layperson [] -synonym: "Perioral dermatitis" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Perioral dermatitis" RELATED [ORCID:0000-0001-5889-4463] xref: MSH:D019557 xref: SNOMEDCT_US:16459000 xref: SNOMEDCT_US:238751002 @@ -123505,8 +124049,8 @@ is_a: HP:0011703 ! Sinus tachycardia [Term] id: HP:0040183 name: Encopresis -synonym: "Stool holding" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Stool soiling" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Stool holding" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Stool soiling" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:302690004 xref: UMLS:C2945606 is_a: HP:0002607 ! Bowel incontinence @@ -123515,7 +124059,7 @@ is_a: HP:0002607 ! Bowel incontinence id: HP:0040184 name: Oral bleeding synonym: "Oral bleeding" EXACT layperson [] -synonym: "Oral hemorrhage" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Oral hemorrhage" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D006472 xref: SNOMEDCT_US:22490002 xref: UMLS:C0029163 @@ -123576,7 +124120,7 @@ is_a: HP:0011124 ! Abnormality of epidermal morphology id: HP:0040190 name: White scaling skin synonym: "White scaling skin" EXACT layperson [] -synonym: "White scaly skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "White scaly skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4073146 is_a: HP:0040189 ! Scaling skin @@ -123802,7 +124346,7 @@ is_a: HP:0040215 ! Abnormal circulating insulin level [Term] id: HP:0040217 name: Elevated hemoglobin A1c -def: "An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements." [] {comment="HPO:probinson", comment="PMID:20042774"} +def: "An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements." [HPO:probinson, PMID:20042774] synonym: "Elevated glycated hemoglobin" EXACT [] synonym: "Elevated glycosylated hemoglobin" EXACT [] synonym: "Increased HbA1c levels" EXACT [] @@ -124126,8 +124670,8 @@ is_a: HP:3000033 ! Abnormality of nasopharyngeal adenoids [Term] id: HP:0040257 -name: Abnormal size of nasopharyngeal adenoids {xref="orcid.org/0000-0001-7941-2961"} -def: "A deviation in the size of nasopharyngeal adenoids." [] +name: Abnormal size of nasopharyngeal adenoids +def: "A deviation in the size of nasopharyngeal adenoids." [ORCID:0000-0001-7941-2961] xref: UMLS:C4280692 is_a: HP:3000033 ! Abnormality of nasopharyngeal adenoids @@ -124143,14 +124687,14 @@ is_a: HP:0040260 ! Decreased size of nasopharyngeal adenoids [Term] id: HP:0040259 name: Aplastic nasopharyngeal adenoids -def: "Absence of the nasopharyngeal adenoids as a developmental defect." [orcid.org/0000-0001-5208-3432] +def: "Absence of the nasopharyngeal adenoids as a developmental defect." [ORCID:0000-0001-5208-3432] xref: UMLS:C4280690 is_a: HP:0040256 ! Aplastic/Hypoplastic nasopharyngeal adenoids [Term] id: HP:0040260 name: Decreased size of nasopharyngeal adenoids -def: "An abnormal decrease in the size of nasopharyngeal adenoids." [orcid.org/0000-0001-7941-2961] +def: "An abnormal decrease in the size of nasopharyngeal adenoids." [ORCID:0000-0001-7941-2961] xref: UMLS:C4280689 is_a: HP:0040257 ! Abnormal size of nasopharyngeal adenoids @@ -124188,7 +124732,7 @@ is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0040264 name: Jaw pain -def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw." [] {comment="HPO:probinson"} +def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw." [HPO:probinson] synonym: "Jaw pain" EXACT layperson [] xref: SNOMEDCT_US:274667000 xref: UMLS:C0236000 @@ -124216,7 +124760,7 @@ is_a: HP:0040265 ! Upper limb muscle hypertrophy [Term] id: HP:0040268 name: Recurrent infections of the middle ear -def: "Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections" [orcid.org/0000-0001-7941-2961] +def: "Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections" [ORCID:0000-0001-7941-2961] xref: UMLS:C0747085 is_a: HP:0000370 ! Abnormality of the middle ear is_a: HP:0002719 ! Recurrent infections @@ -124453,7 +124997,7 @@ name: Hyperglycerolemia def: "Increased concentration of glycerol in the blood." [PMID:23415440] comment: In glycerol kinase deficiency, the increased glycerol concentration has been noted to cause false-positive results of hypertriglyceridemia, a phenomenon called pseudohypertriglyceridemia. synonym: "Pseudohypertriglyceridemia" RELATED [] -is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +is_a: HP:0031795 ! Abnormal circulating glycerol level [Term] id: HP:0040303 @@ -124698,8 +125242,8 @@ created_by: HPO:skoehler [Term] id: HP:0045006 name: Aplasia of lymphatic vessels -def: "Aplasia (absence) of the lymphatic vessels." [orcid.org/0000-0001-5208-3432] -synonym: "Absent lymphatic vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +def: "Aplasia (absence) of the lymphatic vessels." [ORCID:0000-0001-5208-3432] +synonym: "Absent lymphatic vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022404 is_a: HP:0100766 ! Abnormal lymphatic vessel morphology created_by: HPO:skoehler @@ -124725,7 +125269,7 @@ name: Abnormal morphology of the radius xref: UMLS:C4022401 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0011314 ! Abnormality of long bone morphology -is_a: HP:0040073 ! Abnormal morphology of forearm bone +is_a: HP:0040073 ! Abnormal forearm bone morphology created_by: HPO:skoehler [Term] @@ -124783,7 +125327,7 @@ created_by: HPO:skoehler [Term] id: HP:0045018 name: Partial duplication of eyebrows -synonym: "Partial double eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Partial double eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Partial duplication of eyebrows" EXACT layperson [] xref: UMLS:C4022396 is_a: HP:0010730 ! Double eyebrow @@ -124793,10 +125337,10 @@ created_by: HPO:skoehler id: HP:0045025 name: Narrow palpebral fissure def: "Reduction in the vertical distance between the upper and lower eyelids." [HPO:probinson] -synonym: "Decreased size of palpebral fissure" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of palpebral fissure" NARROW [ORCID:0000-0001-5889-4463] synonym: "Narrow eyelid opening" RELATED layperson [] synonym: "Narrow palpebral fissures" EXACT [] -synonym: "Small opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Small opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small palpebral fissures" EXACT [HPO:skoehler] xref: UMLS:C1837464 xref: UMLS:C2675021 @@ -125068,8 +125612,8 @@ is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities id: HP:0045061 name: Decreased carnitine level in liver xref: UMLS:C4073182 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0010967 ! Abnormality of carnitine metabolism +is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0045063 @@ -125314,7 +125858,7 @@ creation_date: 2010-05-14T09:41:55Z id: HP:0100012 name: Neoplasm of the eye def: "A tumor (abnormal growth of tissue) of the eye." [HPO:probinson] -synonym: "Eye tumor" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Eye tumor" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Neoplasia of the eye" RELATED [] xref: MSH:D005134 xref: SNOMEDCT_US:371486001 @@ -125329,7 +125873,7 @@ id: HP:0100013 name: Neoplasm of the breast alt_id: HP:0010623 def: "A tumor (abnormal growth of tissue) of the breast." [HPO:probinson] -synonym: "Breast tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Breast tumor" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Neoplasia of the breast" RELATED [] synonym: "Tumours of the breast" EXACT layperson [] xref: MSH:D001943 @@ -125395,7 +125939,7 @@ id: HP:0100018 name: Nuclear cataract def: "A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." [HPO:sdoelken] subset: hposlim_core -synonym: "Yellowish cloudy center of lens" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Yellowish cloudy center of lens" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:53889007 xref: UMLS:C0392557 is_a: HP:0010920 ! Zonular cataract @@ -125499,7 +126043,7 @@ creation_date: 2010-05-31T05:32:31Z id: HP:0100027 name: Recurrent pancreatitis def: "A recurrent form of pancreatitis." [HPO:probinson] -synonym: "Recurring pancreas inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Recurring pancreas inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Recurring pancreatitis" EXACT [] xref: MSH:D050500 xref: SNOMEDCT_US:233870001 @@ -125516,7 +126060,7 @@ name: Ectopic thyroid def: "Mislocalised thyroid gland." [HPO:sdoelken] comment: An aberrant or ectopic thyroid gland may occur anywhere along the path of initial descent of the thyroid. A total failure to descend contrasts with the incomplete descent of the thyroid, in which case the resulting final resting point of the gland may be high in the neck or just below the hyoid bone. Appart from an abnormal descent, accessory thyroid tissue can also occur, arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. synonym: "Aberrant thyroid" EXACT [HPO:sdoelken] -synonym: "Abnormal thryoid location" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal thryoid location" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D050033 xref: SNOMEDCT_US:214660000 xref: UMLS:C0266283 @@ -125654,7 +126198,7 @@ id: HP:0100041 name: Broad 3rd toe def: "A broad appearance of the third toe." [HPO:sdoelken] synonym: "Broad 3rd toe" EXACT layperson [] -synonym: "Wide 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022380 is_a: HP:0001837 ! Broad toe is_a: HP:0010320 ! Abnormality of the 3rd toe @@ -125666,7 +126210,7 @@ id: HP:0100042 name: Broad 4th toe def: "A broad appearance of the fourth toe." [HPO:sdoelken] synonym: "Broad 4th toe" EXACT layperson [] -synonym: "Wide 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022379 is_a: HP:0001837 ! Broad toe is_a: HP:0010321 ! Abnormality of the 4th toe @@ -125678,9 +126222,9 @@ id: HP:0100043 name: Broad 5th toe def: "A broad appearance of the fifth toe." [HPO:sdoelken] synonym: "Broad 5th toe" EXACT layperson [] -synonym: "Broad little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022378 is_a: HP:0001837 ! Broad toe is_a: HP:0010322 ! Abnormality of the 5th toe @@ -125690,7 +126234,7 @@ creation_date: 2010-06-24T09:56:25Z [Term] id: HP:0100044 name: Absent epiphyses of the 2nd toe -synonym: "Absent end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022377 is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125700,7 +126244,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100045 name: Bracket epiphyses of the 2nd toe -synonym: "Bracket shaped end part of 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022376 is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125710,7 +126254,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100046 name: Cone-shaped epiphyses of the 2nd toe -synonym: "Cone-shaped end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022375 is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125720,7 +126264,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100047 name: Enlarged epiphyses of the 2nd toe -synonym: "Enlarged end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022374 is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125730,7 +126274,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100048 name: Fragmentation of the epiphyses of the 2nd toe -synonym: "Fragmentation of the end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022373 is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125740,7 +126284,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100049 name: Irregular epiphyses of the 2nd toe -synonym: "Irregular end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022372 is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125751,7 +126295,7 @@ creation_date: 2010-06-24T09:58:18Z id: HP:0100050 name: Ivory epiphyses of the 2nd toe def: "Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] -synonym: "Increased bone density of end part of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022371 is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125770,7 +126314,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100052 name: Small epiphyses of the 2nd toe -synonym: "Small end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022369 is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125780,7 +126324,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100053 name: Stippling of the epiphyses of the 2nd toe -synonym: "Speckled calcifications in the end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022368 is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125790,7 +126334,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100054 name: Triangular epiphyses of the 2nd toe -synonym: "Triangular end part of the 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022367 is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe @@ -125800,7 +126344,7 @@ creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100055 name: Absent epiphyses of the 3rd toe -synonym: "Absent end part of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022366 is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125810,7 +126354,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100056 name: Bracket epiphyses of the 3rd toe -synonym: "Bracket shaped end part of 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022365 is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125820,7 +126364,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100057 name: Cone-shaped epiphyses of the 3rd toe -synonym: "Cone-shaped end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022364 is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125830,7 +126374,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100058 name: Enlarged epiphyses of the 3rd toe -synonym: "Enlarged end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022363 is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125840,7 +126384,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100059 name: Fragmentation of the epiphyses of the 3rd toe -synonym: "Fragmentation of the end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022362 is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125850,7 +126394,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100060 name: Irregular epiphyses of the 3rd toe -synonym: "Irregular end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022361 is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125861,7 +126405,7 @@ creation_date: 2010-06-24T09:58:55Z id: HP:0100061 name: Ivory epiphyses of the 3rd toe def: "Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] -synonym: "Increased bone density of end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022360 is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125880,7 +126424,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100063 name: Small epiphyses of the 3rd toe -synonym: "Small end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022358 is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125890,7 +126434,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100064 name: Stippling of the epiphyses of the 3rd toe -synonym: "Speckled calcifications in the end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022357 is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125900,7 +126444,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100065 name: Triangular epiphyses of the 3rd toe -synonym: "Triangular end part of the 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022356 is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe @@ -125910,7 +126454,7 @@ creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100066 name: Absent epiphyses of the 4th toe -synonym: "Absent end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022355 is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -125920,7 +126464,7 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100067 name: Bracket epiphyses of the 4th toe -synonym: "Bracket shaped end part of 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022354 is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -125930,7 +126474,7 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100068 name: Cone-shaped epiphyses of the 4th toe -synonym: "Cone-shaped end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022353 is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -125940,7 +126484,7 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100069 name: Enlarged epiphyses of the 4th toe -synonym: "Enlarged end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022352 is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -125950,7 +126494,7 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100070 name: Fragmentation of the epiphyses of the 4th toe -synonym: "Fragmentation of the end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022351 is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -125960,7 +126504,7 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100071 name: Irregular epiphyses of the 4th toe -synonym: "Irregular end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022350 is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -125971,7 +126515,7 @@ creation_date: 2010-06-24T09:59:30Z id: HP:0100072 name: Ivory epiphyses of the 4th toe def: "Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] -synonym: "Increased bone density of end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022349 is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -125990,7 +126534,7 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100074 name: Small epiphyses of the 4th toe -synonym: "Small end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022347 is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -126000,7 +126544,7 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100075 name: Stippling of the epiphyses of the 4th toe -synonym: "Speckled calcifications in the end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022346 is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -126010,7 +126554,7 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100076 name: Triangular epiphyses of the 4th toe -synonym: "Triangular end part of the 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022345 is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe @@ -126020,9 +126564,9 @@ creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100077 name: Absent epiphyses of the 5th toe -synonym: "Absent end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022344 is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126032,9 +126576,9 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100078 name: Bracket epiphyses of the 5th toe -synonym: "Bracket shaped end part of little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022343 is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126044,9 +126588,9 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100079 name: Cone-shaped epiphyses of the 5th toe -synonym: "Cone-shaped end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022342 is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126056,9 +126600,9 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100080 name: Enlarged epiphyses of the 5th toe -synonym: "Enlarged end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022341 is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126068,9 +126612,9 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100081 name: Fragmentation of the epiphyses of the 5th toe -synonym: "Fragmentation of the end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022340 is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126080,9 +126624,9 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100082 name: Irregular epiphyses of the 5th toe -synonym: "Irregular end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022339 is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126093,9 +126637,9 @@ creation_date: 2010-06-24T10:00:02Z id: HP:0100083 name: Ivory epiphyses of the 5th toe def: "Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] -synonym: "Increased bone density of end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022338 is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126114,9 +126658,9 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100085 name: Small epiphyses of the 5th toe -synonym: "Small end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022336 is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126126,9 +126670,9 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100086 name: Stippling of the epiphyses of the 5th toe -synonym: "Speckled calcifications in the end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in the end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in the end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022335 is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126138,9 +126682,9 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100087 name: Triangular epiphyses of the 5th toe -synonym: "Triangular end part of the little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022334 is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe @@ -126150,7 +126694,7 @@ creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100088 name: Abnormality of the epiphysis of the distal phalanx of the 2nd toe -synonym: "Abnormality of the end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022333 is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens @@ -126159,7 +126703,7 @@ creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100089 name: Abnormality of the epiphysis of the middle phalanx of the 2nd toe -synonym: "Abnormality of the end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022332 is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens @@ -126168,7 +126712,7 @@ creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100090 name: Abnormality of the epiphysis of the proximal phalanx of the 2nd toe -synonym: "Abnormality of the end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022331 is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens @@ -126177,7 +126721,7 @@ creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100091 name: Abnormality of the epiphysis of the distal phalanx of the 3rd toe -synonym: "Abnormality of the end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022330 is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens @@ -126186,7 +126730,7 @@ creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100092 name: Abnormality of the epiphysis of the middle phalanx of the 3rd toe -synonym: "Abnormality of the end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022329 is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens @@ -126195,7 +126739,7 @@ creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100093 name: Abnormality of the epiphysis of the proximal phalanx of the 3rd toe -synonym: "Abnormality of the end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022328 is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens @@ -126204,7 +126748,7 @@ creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100094 name: Abnormality of the epiphysis of the distal phalanx of the 4th toe -synonym: "Abnormality of the end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022327 is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens @@ -126213,7 +126757,7 @@ creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100095 name: Abnormality of the epiphysis of the middle phalanx of the 4th toe -synonym: "Abnormality of the end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022326 is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens @@ -126222,7 +126766,7 @@ creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100096 name: Abnormality of the epiphysis of the proximal phalanx of the 4th toe -synonym: "Abnormality of the end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022325 is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens @@ -126231,9 +126775,9 @@ creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100097 name: Abnormality of the epiphysis of the distal phalanx of the 5th toe -synonym: "Abnormality of the end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022324 is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens @@ -126242,9 +126786,9 @@ creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100098 name: Abnormality of the epiphysis of the middle phalanx of the 5th toe -synonym: "Abnormality of the end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022323 is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens @@ -126253,9 +126797,9 @@ creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100099 name: Abnormality of the epiphysis of the proximal phalanx of the 5th toe -synonym: "Abnormality of the end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Abnormality of the end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Abnormality of the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022322 is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens @@ -126264,7 +126808,7 @@ creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100100 name: Absent epiphysis of the distal phalanx of the 2nd toe -synonym: "Absent end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022321 is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126274,7 +126818,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100101 name: Bracket epiphysis of the distal phalanx of the 2nd toe -synonym: "Bracket shaped end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022320 is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126284,7 +126828,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100102 name: Cone-shaped epiphysis of the distal phalanx of the 2nd toe -synonym: "Cone-shaped end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022319 is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126294,7 +126838,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100103 name: Enlarged epiphysis of the distal phalanx of the 2nd toe -synonym: "Enlarged end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022318 is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126304,7 +126848,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100104 name: Fragmentation of the epiphysis of the distal phalanx of the 2nd toe -synonym: "Fragmentation of the end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022317 is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126314,7 +126858,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100105 name: Irregular epiphysis of the distal phalanx of the 2nd toe -synonym: "Irregular end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022316 is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126324,7 +126868,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100106 name: Ivory epiphysis of the distal phalanx of the 2nd toe -synonym: "Increased bone density of end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022315 is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126343,7 +126887,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100108 name: Small epiphysis of the distal phalanx of the 2nd toe -synonym: "Small end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022313 is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126353,7 +126897,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100109 name: Stippling of the epiphysis of the distal phalanx of the 2nd toe -synonym: "Speckled calcifications in the end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022312 is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126363,7 +126907,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100110 name: Triangular epiphysis of the distal phalanx of the 2nd toe -synonym: "Triangular end part of the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022311 is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe @@ -126373,7 +126917,7 @@ creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100111 name: Absent epiphysis of the middle phalanx of the 2nd toe -synonym: "Absent end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022310 is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126383,7 +126927,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100112 name: Bracket epiphysis of the middle phalanx of the 2nd toe -synonym: "Bracket shaped end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022309 is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126393,7 +126937,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100113 name: Cone-shaped epiphysis of the middle phalanx of the 2nd toe -synonym: "Cone-shaped end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022308 is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126403,7 +126947,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100114 name: Enlarged epiphysis of the middle phalanx of the 2nd toe -synonym: "Enlarged end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022307 is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126413,7 +126957,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100115 name: Fragmentation of the epiphysis of the middle phalanx of the 2nd toe -synonym: "Fragmentation of the end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022306 is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126423,7 +126967,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100116 name: Irregular epiphysis of the middle phalanx of the 2nd toe -synonym: "Irregular end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022305 is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126433,7 +126977,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100117 name: Ivory epiphysis of the middle phalanx of the 2nd toe -synonym: "Increased bone density of end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022304 is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126452,7 +126996,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100119 name: Small epiphysis of the middle phalanx of the 2nd toe -synonym: "Small end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022302 is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126462,7 +127006,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100120 name: Stippling of the epiphysis of the middle phalanx of the 2nd toe -synonym: "Speckled calcifications in of the end part of the middle bone of the 2nd toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in of the end part of the middle bone of the 2nd toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022301 is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126472,7 +127016,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100121 name: Triangular epiphysis of the middle phalanx of the 2nd toe -synonym: "Triangular end part of the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022300 is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe @@ -126482,7 +127026,7 @@ creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100122 name: Absent epiphysis of the proximal phalanx of the 2nd toe -synonym: "Absent end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022299 is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126492,7 +127036,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100123 name: Bracket epiphysis of the proximal phalanx of the 2nd toe -synonym: "Bracket shaped end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022298 is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126502,7 +127046,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100124 name: Cone-shaped epiphysis of the proximal phalanx of the 2nd toe -synonym: "Cone-shaped end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022297 is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126512,7 +127056,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100125 name: Enlarged epiphysis of the proximal phalanx of the 2nd toe -synonym: "Enlarged end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022296 is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126522,7 +127066,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100126 name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe -synonym: "Fragmentation of the end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022295 is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126532,7 +127076,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100127 name: Irregular epiphysis of the proximal phalanx of the 2nd toe -synonym: "Irregular end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022294 is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126542,7 +127086,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100128 name: Ivory epiphysis of the proximal phalanx of the 2nd toe -synonym: "Increased bone density of end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022293 is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126561,7 +127105,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100130 name: Small epiphysis of the proximal phalanx of the 2nd toe -synonym: "Small end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022291 is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126571,7 +127115,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100131 name: Stippling of the epiphysis of the proximal phalanx of the 2nd toe -synonym: "Speckled calcifications in the end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022290 is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126581,7 +127125,7 @@ creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100132 name: Triangular epiphysis of the proximal phalanx of the 2nd toe -synonym: "Triangular end part of the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022289 is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe @@ -126610,7 +127154,7 @@ creation_date: 2010-06-24T10:17:00Z [Term] id: HP:0100135 name: Absent epiphysis of the distal phalanx of the 3rd toe -synonym: "Absent end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022286 is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126620,7 +127164,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100136 name: Bracket epiphysis of the distal phalanx of the 3rd toe -synonym: "Bracket shaped end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022285 is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126630,7 +127174,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100137 name: Cone-shaped epiphysis of the distal phalanx of the 3rd toe -synonym: "Cone-shaped end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022284 is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126640,7 +127184,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100138 name: Enlarged epiphysis of the distal phalanx of the 3rd toe -synonym: "Enlarged end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022283 is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126650,7 +127194,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100139 name: Fragmentation of the epiphysis of the distal phalanx of the 3rd toe -synonym: "Fragmentation of the end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022282 is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126660,7 +127204,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100140 name: Irregular epiphysis of the distal phalanx of the 3rd toe -synonym: "Irregular end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022281 is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126670,7 +127214,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100141 name: Ivory epiphysis of the distal phalanx of the 3rd toe -synonym: "Increased bone density of end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022280 is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126689,7 +127233,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100143 name: Small epiphysis of the distal phalanx of the 3rd toe -synonym: "Small end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022278 is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126699,7 +127243,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100144 name: Stippling of the epiphysis of the distal phalanx of the 3rd toe -synonym: "Speckled calcifications in the end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022277 is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126709,7 +127253,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100145 name: Triangular epiphysis of the distal phalanx of the 3rd toe -synonym: "Triangular end part of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022276 is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe @@ -126719,7 +127263,7 @@ creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100146 name: Absent epiphysis of the middle phalanx of the 3rd toe -synonym: "Absent end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022275 is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126729,7 +127273,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100147 name: Bracket epiphysis of the middle phalanx of the 3rd toe -synonym: "Bracket shaped end part of the middle bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022274 is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126739,7 +127283,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100148 name: Cone-shaped epiphysis of the middle phalanx of the 3rd toe -synonym: "Cone-shaped end part of the middle bone of the 3rd toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the 3rd toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022273 is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126749,7 +127293,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100149 name: Enlarged epiphysis of the middle phalanx of the 3rd toe -synonym: "Enlarged end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022272 is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126759,7 +127303,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100150 name: Fragmentation of the epiphysis of the middle phalanx of the 3rd toe -synonym: "Fragmentation of the end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022271 is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126769,7 +127313,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100151 name: Irregular epiphysis of the middle phalanx of the 3rd toe -synonym: "Irregular end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022270 is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126779,7 +127323,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100152 name: Ivory epiphysis of the middle phalanx of the 3rd toe -synonym: "Increased bone density of end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022269 is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126798,7 +127342,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100154 name: Small epiphysis of the middle phalanx of the 3rd toe -synonym: "Small end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022267 is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126808,7 +127352,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100155 name: Stippling of the epiphysis of the middle phalanx of the 3rd toe -synonym: "Speckled calcifications in the end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022266 is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126818,7 +127362,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100156 name: Triangular epiphysis of the middle phalanx of the 3rd toe -synonym: "Triangular end part of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022265 is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe @@ -126828,7 +127372,7 @@ creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100157 name: Absent epiphysis of the proximal phalanx of the 3rd toe -synonym: "Absent end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022264 is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126838,7 +127382,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100158 name: Bracket epiphysis of the proximal phalanx of the 3rd toe -synonym: "Bracket shaped end part of the innermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022263 is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126848,7 +127392,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100159 name: Cone-shaped epiphysis of the proximal phalanx of the 3rd toe -synonym: "Cone-shaped end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022262 is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126858,7 +127402,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100160 name: Enlarged epiphysis of the proximal phalanx of the 3rd toe -synonym: "Enlarged end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022261 is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126868,7 +127412,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100161 name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe -synonym: "Fragmentation of the end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022260 is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126878,7 +127422,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100162 name: Irregular epiphysis of the proximal phalanx of the 3rd toe -synonym: "Irregular end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022259 is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126888,7 +127432,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100163 name: Ivory epiphysis of the proximal phalanx of the 3rd toe -synonym: "Increased bone density of end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022258 is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126907,7 +127451,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100165 name: Small epiphysis of the proximal phalanx of the 3rd toe -synonym: "Small end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022256 is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126917,7 +127461,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100166 name: Stippling of the epiphysis of the proximal phalanx of the 3rd toe -synonym: "Speckled calcifications in of the end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022255 is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126927,7 +127471,7 @@ creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100167 name: Triangular epiphysis of the proximal phalanx of the 3rd toe -synonym: "Triangular end part of the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022254 is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe @@ -126938,7 +127482,7 @@ creation_date: 2010-06-24T10:24:45Z id: HP:0100168 name: Fragmented epiphyses def: "Fragmented appearance of the epiphyses." [HPO:sdoelken] -synonym: "Fragmented end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmented end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022253 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: doelkens @@ -126947,7 +127491,7 @@ creation_date: 2010-06-24T11:07:51Z [Term] id: HP:0100169 name: Absent epiphysis of the distal phalanx of the 4th toe -synonym: "Absent end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022252 is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -126957,7 +127501,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100170 name: Bracket epiphysis of the distal phalanx of the 4th toe -synonym: "Bracket shaped end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022251 is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -126967,7 +127511,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100171 name: Cone-shaped epiphysis of the distal phalanx of the 4th toe -synonym: "Cone-shaped end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022250 is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -126977,7 +127521,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100172 name: Enlarged epiphysis of the distal phalanx of the 4th toe -synonym: "Enlarged end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022249 is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -126987,7 +127531,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100173 name: Fragmentation of the epiphysis of the distal phalanx of the 4th toe -synonym: "Fragmentation of the end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022248 is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -126997,7 +127541,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100174 name: Irregular epiphysis of the distal phalanx of the 4th toe -synonym: "Irregular end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022247 is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -127007,7 +127551,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100175 name: Ivory epiphysis of the distal phalanx of the 4th toe -synonym: "Increased bone density of end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022246 is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -127026,7 +127570,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100177 name: Small epiphysis of the distal phalanx of the 4th toe -synonym: "Small end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022244 is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -127036,7 +127580,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100178 name: Stippling of the epiphysis of the distal phalanx of the 4th toe -synonym: "Speckled calcifications in the end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022243 is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -127046,7 +127590,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100179 name: Triangular epiphysis of the distal phalanx of the 4th toe -synonym: "Triangular end part of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022242 is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe @@ -127056,7 +127600,7 @@ creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100180 name: Absent epiphysis of the middle phalanx of the 4th toe -synonym: "Absent end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022241 is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127066,7 +127610,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100181 name: Bracket epiphysis of the middle phalanx of the 4th toe -synonym: "Bracket shaped end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022240 is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127076,7 +127620,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100182 name: Cone-shaped epiphysis of the middle phalanx of the 4th toe -synonym: "Cone-shaped end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022239 is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127086,7 +127630,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100183 name: Enlarged epiphysis of the middle phalanx of the 4th toe -synonym: "Enlarged end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022238 is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127096,7 +127640,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100184 name: Fragmentation of the epiphysis of the middle phalanx of the 4th toe -synonym: "Fragmentation of the end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022237 is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127106,7 +127650,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100185 name: Irregular epiphysis of the middle phalanx of the 4th toe -synonym: "Irregular end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022236 is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127116,7 +127660,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100186 name: Ivory epiphysis of the middle phalanx of the 4th toe -synonym: "Increased bone density of end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022235 is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127135,7 +127679,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100188 name: Small epiphysis of the middle phalanx of the 4th toe -synonym: "Small end part of middle long bone of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of middle long bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022233 is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127145,7 +127689,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100189 name: Stippling of the epiphysis of the middle phalanx of the 4th toe -synonym: "Speckled calcifications in the end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022232 is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127155,7 +127699,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100190 name: Triangular epiphysis of the middle phalanx of the 4th toe -synonym: "Triangular end part of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022231 is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe @@ -127165,7 +127709,7 @@ creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100191 name: Absent epiphysis of the proximal phalanx of the 4th toe -synonym: "Absent end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022230 is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127175,7 +127719,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100192 name: Bracket epiphysis of the proximal phalanx of the 4th toe -synonym: "Bracket shaped end part of the innermost bone of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022229 is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127185,7 +127729,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100193 name: Cone-shaped epiphysis of the proximal phalanx of the 4th toe -synonym: "Cone-shaped end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022228 is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127195,7 +127739,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100194 name: Enlarged epiphysis of the proximal phalanx of the 4th toe -synonym: "Enlarged end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022227 is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127205,7 +127749,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100195 name: Fragmentation of the epiphysis of the proximal phalanx of the 4th toe -synonym: "Fragmentation of the end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022226 is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127215,7 +127759,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100196 name: Irregular epiphysis of the proximal phalanx of the 4th toe -synonym: "Irregular end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022225 is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127225,7 +127769,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100197 name: Ivory epiphysis of the proximal phalanx of the 4th toe -synonym: "Increased bone density of end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022224 is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127244,7 +127788,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100199 name: Small epiphysis of the proximal phalanx of the 4th toe -synonym: "Small end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022222 is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127254,7 +127798,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100200 name: Stippling of the epiphysis of the proximal phalanx of the 4th toe -synonym: "Speckled calcifications in the end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022221 is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127264,7 +127808,7 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100201 name: Triangular epiphysis of the proximal phalanx of the 4th toe -synonym: "Triangular end part of the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022220 is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe @@ -127274,9 +127818,9 @@ creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100202 name: Absent epiphysis of the distal phalanx of the 5th toe -synonym: "Absent end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022219 is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127286,9 +127830,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100203 name: Bracket epiphysis of the distal phalanx of the 5th toe -synonym: "Bracket shaped end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022218 is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127298,9 +127842,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100204 name: Cone-shaped epiphysis of the distal phalanx of the 5th toe -synonym: "Cone-shaped end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022217 is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127310,9 +127854,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100205 name: Enlarged epiphysis of the distal phalanx of the 5th toe -synonym: "Enlarged end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022216 is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127322,9 +127866,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100206 name: Fragmentation of the epiphysis of the distal phalanx of the 5th toe -synonym: "Fragmentation of the end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022215 is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127334,9 +127878,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100207 name: Irregular epiphysis of the distal phalanx of the 5th toe -synonym: "Irregular end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022214 is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127346,9 +127890,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100208 name: Ivory epiphysis of the distal phalanx of the 5th toe -synonym: "Increased bone density of end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022213 is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127367,9 +127911,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100210 name: Small epiphysis of the distal phalanx of the 5th toe -synonym: "Small end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022211 is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127379,9 +127923,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100211 name: Stippling of the epiphysis of the distal phalanx of the 5th toe -synonym: "Speckled calcifications in the end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in the end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in the end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022210 is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127391,9 +127935,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100212 name: Triangular epiphysis of the distal phalanx of the 5th toe -synonym: "Triangular end part of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022209 is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe @@ -127403,9 +127947,9 @@ creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100213 name: Absent epiphysis of the middle phalanx of the 5th toe -synonym: "Absent end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022208 is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127415,9 +127959,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100214 name: Bracket epiphysis of the middle phalanx of the 5th toe -synonym: "Bracket shaped end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022207 is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127427,9 +127971,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100215 name: Cone-shaped epiphysis of the middle phalanx of the 5th toe -synonym: "Cone-shaped end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022206 is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127439,9 +127983,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100216 name: Enlarged epiphysis of the middle phalanx of the 5th toe -synonym: "Enlarged end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022205 is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127451,9 +127995,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100217 name: Fragmentation of the epiphysis of the middle phalanx of the 5th toe -synonym: "Fragmentation of the end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022204 is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127463,9 +128007,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100218 name: Irregular epiphysis of the middle phalanx of the 5th toe -synonym: "Irregular end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022203 is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127475,9 +128019,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100219 name: Ivory epiphysis of the middle phalanx of the 5th toe -synonym: "Increased bone density of end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022202 is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127496,9 +128040,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100221 name: Small epiphysis of the middle phalanx of the 5th toe -synonym: "Small end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022200 is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127508,9 +128052,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100222 name: Stippling of the epiphysis of the middle phalanx of the 5th toe -synonym: "Speckled calcifications in end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022199 is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127520,9 +128064,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100223 name: Triangular epiphysis of the middle phalanx of the 5th toe -synonym: "Triangular end part of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022198 is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe @@ -127532,9 +128076,9 @@ creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100224 name: Absent epiphysis of the proximal phalanx of the 5th toe -synonym: "Absent end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022197 is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127544,9 +128088,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100225 name: Bracket epiphysis of the proximal phalanx of the 5th toe -synonym: "Bracket shaped end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bracket shaped end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bracket shaped end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022196 is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127556,9 +128100,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100226 name: Cone-shaped epiphysis of the proximal phalanx of the 5th toe -synonym: "Cone-shaped end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Cone-shaped end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Cone-shaped end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022195 is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127568,9 +128112,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100227 name: Enlarged epiphysis of the proximal phalanx of the 5th toe -synonym: "Enlarged end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Enlarged end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Enlarged end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022194 is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127580,9 +128124,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100228 name: Fragmentation of the epiphysis of the proximal phalanx of the 5th toe -synonym: "Fragmentation of the end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fragmentation of the end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fragmentation of the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022193 is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127592,9 +128136,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100229 name: Irregular epiphysis of the proximal phalanx of the 5th toe -synonym: "Irregular end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Irregular end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Irregular end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Irregular end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022192 is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127604,9 +128148,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100230 name: Ivory epiphysis of the proximal phalanx of the 5th toe -synonym: "Increased bone density of end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density of end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density of end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022191 is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127625,9 +128169,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100232 name: Small epiphysis of the proximal phalanx of the 5th toe -synonym: "Small end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Small end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Small end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022189 is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127637,9 +128181,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100233 name: Stippling of the epiphysis of the proximal phalanx of the 5th toe -synonym: "Speckled calcifications in the end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in the end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Speckled calcifications in the end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Speckled calcifications in the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022188 is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127649,9 +128193,9 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100234 name: Triangular epiphysis of the proximal phalanx of the 5th toe -synonym: "Triangular end part of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular end part of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022187 is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe @@ -127661,7 +128205,7 @@ creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100235 name: Synostosis involving bones of the toes -synonym: "Fusion involving bones of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022186 is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100262 ! Synostosis involving digits @@ -127682,7 +128226,7 @@ creation_date: 2010-06-24T05:37:18Z id: HP:0100238 name: Synostosis involving bones of the upper limbs def: "An abnormal union between bones or parts of bones of the upper limbs." [HPO:sdoelken] -synonym: "Fusion involving bones of the upper limbs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022184 is_a: HP:0009810 ! Abnormality of upper limb joint is_a: HP:0100240 ! Synostosis of joints @@ -127695,7 +128239,7 @@ name: Synostosis of joints def: "The abnormal fusion of neighboring bones across a joint." [HPO:probinson] comment: Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. synonym: "Bony ankylosis" EXACT [] -synonym: "Fusion of joints" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion of joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022183 is_a: HP:0011729 ! Abnormality of joint mobility created_by: doelkens @@ -127910,8 +128454,8 @@ name: Ectrodactyly def: "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet." [HPO:sdoelken] comment: Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. subset: hposlim_core -synonym: "Cleft hand" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Lobster claw hand" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Cleft hand" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Lobster claw hand" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:C574275 xref: SNOMEDCT_US:13624003 xref: SNOMEDCT_US:81208006 @@ -127961,7 +128505,7 @@ id: HP:0100261 name: Abnormal tendon morphology def: "An abnormality of the structure or form of the tendons, also often called sinews." [HPO:sdoelken] comment: A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. -synonym: "Abnormal shape of tendon" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of tendon" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the sinew" EXACT [] xref: UMLS:C4021026 is_a: HP:0011842 ! Abnormality of skeletal morphology @@ -127971,7 +128515,7 @@ creation_date: 2010-07-20T01:20:19Z [Term] id: HP:0100262 name: Synostosis involving digits -synonym: "Fusion involving digits" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion involving digits" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022178 is_a: HP:0100240 ! Synostosis of joints created_by: doelkens @@ -127989,7 +128533,7 @@ creation_date: 2010-07-20T03:00:19Z [Term] id: HP:0100264 name: Proximal symphalangism -synonym: "Cushing's symphalangism" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Cushing's symphalangism" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:C536223 xref: UMLS:C1861385 is_a: HP:0100262 ! Synostosis involving digits @@ -127999,7 +128543,7 @@ creation_date: 2010-07-20T03:00:19Z [Term] id: HP:0100265 name: Synostosis of metacarpals/metatarsals -synonym: "Fusion of long bones of hand/long bones of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion of long bones of hand/long bones of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022177 is_a: HP:0100240 ! Synostosis of joints created_by: doelkens @@ -128015,7 +128559,7 @@ def: "The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitat synonym: "Carpal and tarsal fusions" EXACT [] synonym: "Coalescence of carpal and tarsal bones" EXACT [] synonym: "Fusion of carpal and tarsal bones" EXACT [] -synonym: "Wrist bone/ankle bone fusions" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wrist bone/ankle bone fusions" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021025 is_a: HP:0100240 ! Synostosis of joints created_by: doelkens @@ -128048,7 +128592,7 @@ id: HP:0100269 name: Paramedian lip pit def: "Depression located paramedially on the vermilion of a lip." [HPO:sdoelken] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the upper or lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). -synonym: "Paramedian labial pits" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Paramedian labial pits" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022175 is_a: HP:0100267 ! Lip pit created_by: doelkens @@ -128087,7 +128631,7 @@ creation_date: 2010-07-27T10:10:03Z [Term] id: HP:0100273 name: Neoplasm of the colon -synonym: "Colon tumor" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Colon tumor" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003110 xref: SNOMEDCT_US:126838000 xref: UMLS:C0009375 @@ -128132,11 +128676,11 @@ creation_date: 2010-08-05T10:51:32Z id: HP:0100277 name: Periauricular skin pits def: "Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] -synonym: "Periauricular earpits" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Periauricular fistulas" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Periauricular pits" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Periauricular sinus" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Pits around the ear" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Periauricular earpits" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Periauricular fistulas" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Periauricular pits" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Periauricular sinus" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Pits around the ear" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022171 is_a: HP:0000383 ! Abnormality of periauricular region is_a: HP:0100276 ! Skin pit @@ -128283,7 +128827,7 @@ creation_date: 2010-08-10T01:57:00Z id: HP:0100295 name: Muscle fiber atrophy alt_id: HP:0100294 -synonym: "Muscle fiber degeneration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Muscle fiber degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle fibre atrophy" EXACT [] xref: SNOMEDCT_US:67867005 xref: UMLS:C0333751 @@ -128556,7 +129100,7 @@ creation_date: 2010-08-10T03:56:48Z [Term] id: HP:0100322 name: Aplasia of the pyramidal tract -synonym: "Absent pyramidal tract" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent pyramidal tract" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022147 is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract created_by: doelkens @@ -128606,7 +129150,7 @@ id: HP:0100327 name: Cow milk allergy def: "Hypersensitivity in form of an adverse immune reaction against cow milk protein." [HPO:sdoelken] synonym: "Cow milk allergy" EXACT layperson [] -synonym: "Milk allergy" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Milk allergy" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:15911003 xref: UMLS:C0266815 is_a: HP:0012393 ! Allergy @@ -128617,7 +129161,7 @@ creation_date: 2010-09-16T06:03:58Z id: HP:0100328 name: Carpometacarpal synostosis def: "Fusion involving carpal and metacarpal bones." [HPO:probinson] -synonym: "Fused wrist bones and long bones of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused wrist bones and long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022145 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0009702 ! Carpal synostosis @@ -128627,7 +129171,7 @@ creation_date: 2010-10-08T03:52:00Z [Term] id: HP:0100329 name: Tarsometatarsal synostosis -synonym: "Fused bones of the midfoot" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Fused bones of the midfoot" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022144 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0008368 ! Tarsal synostosis @@ -128639,9 +129183,9 @@ id: HP:0100333 name: Unilateral cleft lip alt_id: HP:0100331 def: "A non-midline cleft of the upper lip on one side only." [HPO:probinson] -synonym: "One sided cleft upper lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral cheiloschisis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral cleft upper lip" EXACT [http://orcid.org/0000-0001-5208-3432, http://orcid.org/0000-0001-5889-4463] +synonym: "One sided cleft upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Unilateral cheiloschisis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Unilateral cleft upper lip" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:304067009 xref: UMLS:C0392006 is_a: HP:0100335 ! Non-midline cleft lip @@ -128651,8 +129195,8 @@ creation_date: 2010-10-13T04:11:32Z [Term] id: HP:0100334 name: Unilateral cleft palate -synonym: "One sided cleft palate" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Unilateral palatoschisis" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "One sided cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Unilateral palatoschisis" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022143 is_a: HP:0100338 ! Non-midline cleft palate created_by: doelkens @@ -128676,9 +129220,9 @@ id: HP:0100336 name: Bilateral cleft lip def: "A non-midline cleft of the upper lip on the left and right sides." [HPO:probinson] subset: hposlim_core -synonym: "Bilateral cheiloschisis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Both sided cleft lip" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Right and left cleft lip" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bilateral cheiloschisis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Both sided cleft lip" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Right and left cleft lip" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:304068004 xref: UMLS:C0392005 is_a: HP:0100335 ! Non-midline cleft lip @@ -128690,8 +129234,8 @@ id: HP:0100337 name: Bilateral cleft palate def: "Nonmidline cleft palate on the left and right sides." [HPO:probinson] subset: hposlim_core -synonym: "Bilateral palatoschisis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Right and left cleft palate" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Bilateral palatoschisis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Right and left cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3553084 is_a: HP:0100338 ! Non-midline cleft palate created_by: doelkens @@ -128700,7 +129244,7 @@ creation_date: 2010-10-13T04:16:32Z [Term] id: HP:0100338 name: Non-midline cleft palate -synonym: "Paramedian cleft palate" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Paramedian cleft palate" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022142 is_a: HP:0000175 ! Cleft palate created_by: doelkens @@ -128803,7 +129347,7 @@ name: Contracture of the proximal interphalangeal joint of the 4th toe def: "The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Camptodactyly of the 4th toe" EXACT [] synonym: "Camptodactyly of the fourth toe" EXACT [] -synonym: "Contracture of the innermost hinge joint of the 4th toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Contracture of the innermost hinge joint of the 4th toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021017 is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010339 ! Flexion contracture of the 4th toe @@ -128844,7 +129388,7 @@ is_a: HP:0010339 ! Flexion contracture of the 4th toe id: HP:0100355 name: Contractures of the distal interphalangeal joint of the 5th toe def: "The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively." [HPO:probinson] -synonym: "Contracture of the outermost hinge joint of the 5th toe" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Contracture of the outermost hinge joint of the 5th toe" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022130 is_a: HP:0010345 ! Flexion contracture of the 5th toe @@ -128887,7 +129431,7 @@ creation_date: 2010-11-11T04:18:29Z [Term] id: HP:0100362 name: Aplasia of the phalanges of the 3rd toe -synonym: "Absent digital bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent digital bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022125 is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe @@ -128896,7 +129440,7 @@ is_a: HP:0010745 ! Aplasia of the phalanges of the toes [Term] id: HP:0100363 name: Aplasia of the phalanges of the 4th toe -synonym: "Absent bones of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022124 is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe @@ -128905,9 +129449,9 @@ is_a: HP:0010745 ! Aplasia of the phalanges of the toes [Term] id: HP:0100364 name: Aplasia of the phalanges of the 5th toe -synonym: "Absent little toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent pinkie toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent pinky toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022123 is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe @@ -128918,7 +129462,7 @@ id: HP:0100366 name: Short phalanx of the 3rd toe def: "Developmental hypoplasia of the phalanx of third toe." [HPO:sdoelken] synonym: "Hypoplastic/small phalanges of the 3rd toe" EXACT [] -synonym: "Short 3rd toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short phalanx of the third toe" EXACT [] xref: UMLS:C4021014 is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe @@ -128930,7 +129474,7 @@ id: HP:0100367 name: Short phalanx of the 4th toe def: "Developmental hypoplasia of one or more phalanx of fourth toe." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 4th toe" EXACT [] -synonym: "Short 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short phalanx of the fourth toe" EXACT [] xref: UMLS:C4021013 is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe @@ -128943,10 +129487,10 @@ is_anonymous: true name: Short phalanx of the 5th toe def: "Developmental hypoplasia of one or more phalanx of little toe." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 5th toe" EXACT [] -synonym: "Short little toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short phalanx of the fifth toe" EXACT [] -synonym: "Short pinkie toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short pinky toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021012 is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe @@ -128955,8 +129499,8 @@ is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes [Term] id: HP:0100369 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd toe -synonym: "Absent/small outermost 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost 3rd toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022122 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe @@ -128966,8 +129510,8 @@ is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100370 name: Aplasia/Hypoplasia of the distal phalanx of the 4th toe -synonym: "Absent/small outermost bone of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost bone of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022121 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe @@ -128977,10 +129521,10 @@ is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100371 name: Aplasia/Hypoplasia of the distal phalanx of the 5th toe -synonym: "Absent/small outermost little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small outermost pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small outermost pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped outermost pinky toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small outermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small outermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022120 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe @@ -128990,8 +129534,8 @@ is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100372 name: Aplasia/Hypoplasia of the middle phalanx of the 3rd toe -synonym: "Absent/small middle 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022119 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe @@ -129001,8 +129545,8 @@ is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100373 name: Aplasia/Hypoplasia of the middle phalanx of the 4th toe -synonym: "Absent/small middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022118 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe @@ -129012,10 +129556,10 @@ is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100374 name: Aplasia/Hypoplasia of the middle phalanx of the 5th toe -synonym: "Absent/small middle 5th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped middle bone of pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small middle 5th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022117 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe @@ -129026,8 +129570,8 @@ is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe id: HP:0100375 name: Aplasia/hypoplasia of the proximal phalanx of the 3rd toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe." [HPO:probinson] -synonym: "Absent/small innermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022116 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe @@ -129038,8 +129582,8 @@ is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe id: HP:0100376 name: Aplasia/hypoplasia of the proximal phalanx of the 4th toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe." [HPO:probinson] -synonym: "Absent/small innermost 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost 4th toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022115 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe @@ -129050,10 +129594,10 @@ is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe id: HP:0100377 name: Aplasia/hypoplasia of the proximal phalanx of the 5th toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe." [HPO:probinson] -synonym: "Absent/small innermost little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small innermost pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/small innermost pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped innermost 5th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent/small innermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small innermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/small innermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped innermost 5th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022114 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe @@ -129065,7 +129609,7 @@ id: HP:0100378 name: Absent distal phalanx of the 3rd toe def: "Developmental aplasia of the distal phalanx of third toe." [HPO:sdoelken] synonym: "Absent distal phalanx of the third toe" EXACT [] -synonym: "Absent outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the distal phalanx of the 3rd toe" EXACT [] xref: UMLS:C4021011 is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes @@ -129075,8 +129619,8 @@ is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe [Term] id: HP:0100379 name: Aplasia of the distal phalanx of the 4th toe -synonym: "Absent distal phalanx of the 4th toe" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Absent outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent distal phalanx of the 4th toe" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Absent outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022113 is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe @@ -129085,9 +129629,9 @@ is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe [Term] id: HP:0100380 name: Aplasia of the distal phalanx of the 5th toe -synonym: "Absent outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Absent outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022112 is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe @@ -129097,7 +129641,7 @@ is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe id: HP:0100381 name: Absent middle phalanx of the 3rd toe def: "Developmental aplasia of the middle phalanx of third toe." [HPO:sdoelken] -synonym: "Absent middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle phalanx of the third toe" EXACT [] synonym: "Aplasia of the middle phalanx of the 3rd toe" EXACT [] xref: UMLS:C4021010 @@ -129108,7 +129652,7 @@ is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes [Term] id: HP:0100382 name: Aplasia of the middle phalanx of the 4th toe -synonym: "Absent middle bone of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022111 is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe is_a: HP:0100373 ! Aplasia/Hypoplasia of the middle phalanx of the 4th toe @@ -129117,9 +129661,9 @@ is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes [Term] id: HP:0100383 name: Aplasia of the middle phalanx of the 5th toe -synonym: "Absent middle bone of little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent middle bone of pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent middle bone of pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022110 is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe is_a: HP:0100374 ! Aplasia/Hypoplasia of the middle phalanx of the 5th toe @@ -129129,7 +129673,7 @@ is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes id: HP:0100384 name: Absent proximal phalanx of the 3rd toe def: "Absence of proximal phalanx of third toe, owing to a congenital defect of development." [HPO:probinson] -synonym: "Absent innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Aplasia of the proximal phalanx of the 3rd toe" EXACT [] xref: UMLS:C4021009 is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe @@ -129139,7 +129683,7 @@ is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes [Term] id: HP:0100385 name: Aplasia of the proximal phalanx of the 4th toe -synonym: "Absent innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022109 is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe is_a: HP:0100376 ! Aplasia/hypoplasia of the proximal phalanx of the 4th toe @@ -129148,9 +129692,9 @@ is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes [Term] id: HP:0100386 name: Aplasia of the proximal phalanx of the 5th toe -synonym: "Absent innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-6908-9849] -synonym: "Absent innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-6908-9849] +synonym: "Absent innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022108 is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe is_a: HP:0100377 ! Aplasia/hypoplasia of the proximal phalanx of the 5th toe @@ -129159,7 +129703,7 @@ is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes [Term] id: HP:0100387 name: Aplasia of the middle phalanges of the toes -synonym: "Absent middle toe bones" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Absent middle toe bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022107 is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens @@ -129168,7 +129712,7 @@ creation_date: 2010-11-11T04:55:30Z [Term] id: HP:0100388 name: Aplasia of the proximal phalanges of the toes -synonym: "Absent innermost toe bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022106 is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens @@ -129180,7 +129724,7 @@ name: Short distal phalanx of the 3rd toe def: "Developmental hypoplasia of the distal phalanx of third toe." [HPO:probinson] synonym: "Hypoplastic/small distal phalanx of the 3rd toe" EXACT [] synonym: "Short distal phalanx of the third toe" EXACT [] -synonym: "Short outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021008 is_a: HP:0100366 ! Short phalanx of the 3rd toe is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe @@ -129191,7 +129735,7 @@ name: Short distal phalanx of the 4th toe def: "Developmental hypoplasia of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 4th toe" EXACT [] synonym: "Short distal phalanx of the fourth toe" EXACT [] -synonym: "Short outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021007 is_a: HP:0100367 ! Short phalanx of the 4th toe is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe @@ -129202,9 +129746,9 @@ name: Short distal phalanx of the 5th toe def: "Developmental hypoplasia of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 5th toe" EXACT [] synonym: "Short distal phalanx of the fifth toe" EXACT [] -synonym: "Short outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Short outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Short outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021006 is_a: HP:0100368 ! Short phalanx of the 5th toe is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe @@ -129224,7 +129768,7 @@ id: HP:0100393 name: Short middle phalanx of the 4th toe def: "Developmental hypoplasia of the middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of the 4th toe" EXACT [] -synonym: "Short middle bone of 4th toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of the fourth toe" EXACT [] xref: UMLS:C4021004 is_a: HP:0100367 ! Short phalanx of the 4th toe @@ -129235,9 +129779,9 @@ id: HP:0100394 name: Short middle phalanx of the 5th toe def: "Developmental hypoplasia of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Hypoplastic/small middle phalanx of the 5th toe" EXACT layperson [] -synonym: "Short middle bone of little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short middle bone of pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short middle bone of pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of the fifth toe" EXACT [] xref: UMLS:C4021003 is_a: HP:0100368 ! Short phalanx of the 5th toe @@ -129270,9 +129814,9 @@ id: HP:0100397 name: Short proximal phalanx of the 5th toe def: "Developmental hypoplasia of the proximal phalanx of fifth toe." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the 5th toe" EXACT layperson [] -synonym: "Short innermost bone of little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short innermost bone of pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Short innermost bone of pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Short innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Short innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanx of the fifth toe" EXACT layperson [] xref: UMLS:C4021000 is_a: HP:0100368 ! Short phalanx of the 5th toe @@ -129283,7 +129827,7 @@ id: HP:0100398 name: Duplication of the distal phalanx of the 3rd toe def: "Partial or complete duplication of distal phalanx of third toe." [HPO:probinson] synonym: "Duplication of the distal phalanx of the third toe" EXACT [] -synonym: "Duplication of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 3rd toe" EXACT [] xref: UMLS:C4020999 is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe @@ -129294,7 +129838,7 @@ id: HP:0100399 name: Duplication of the distal phalanx of the 4th toe def: "Partial or complete duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Duplication of the distal phalanx of the fourth toe" EXACT [] -synonym: "Duplication of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 4th toe" EXACT [] xref: UMLS:C4020998 is_a: HP:0010379 ! Duplication of phalanx of the 4th toe @@ -129305,10 +129849,10 @@ id: HP:0100400 name: Duplication of the distal phalanx of the 5th toe def: "Partial or complete duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Duplication of the distal phalanx of the fifth toe" EXACT [] -synonym: "Duplication of the outermost bone of the fifth toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of the fifth toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 5th toe" EXACT [] xref: UMLS:C4020997 is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe @@ -129318,7 +129862,7 @@ is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe id: HP:0100401 name: Duplication of the middle phalanx of the 3rd toe def: "Partial or complete duplication of middle phalanx of third toe." [HPO:sdoelken] -synonym: "Duplication of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 3rd toe" EXACT [] xref: UMLS:C4020996 @@ -129330,7 +129874,7 @@ is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe id: HP:0100402 name: Duplication of the middle phalanx of the 4th toe def: "Partial or complete duplication of middle phalanx of fourth toe." [HPO:sdoelken] -synonym: "Duplication of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 4th toe" EXACT [] xref: UMLS:C4020995 @@ -129341,9 +129885,9 @@ is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe id: HP:0100403 name: Duplication of the middle phalanx of the 5th toe def: "Partial or complete duplication of the middle phalanx of the 5th toe." [HPO:probinson] -synonym: "Duplication of the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle phalanx of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 5th toe" EXACT [] xref: UMLS:C4020994 @@ -129355,7 +129899,7 @@ is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe id: HP:0100404 name: Duplication of the proximal phalanx of the 3rd toe def: "Partial or complete duplication of proximal phalanx of third toe." [HPO:sdoelken] -synonym: "Duplication of the innermost 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the innermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 3rd toe" EXACT [] xref: UMLS:C4020993 @@ -129367,7 +129911,7 @@ is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe id: HP:0100405 name: Duplication of the proximal phalanx of the 4th toe def: "Partial or complete duplication of the proximal phalanx of fourth toe." [HPO:sdoelken] -synonym: "Duplication of the innermost 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 4th toe" EXACT [] xref: UMLS:C4020992 @@ -129379,9 +129923,9 @@ is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe id: HP:0100406 name: Duplication of the proximal phalanx of the 5th toe def: "Partial or complete duplication of the proximal phalanx of fifth toe." [HPO:probinson] -synonym: "Duplication of the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Duplication of the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 5th toe" EXACT [] xref: UMLS:C4020991 @@ -129393,7 +129937,7 @@ id: HP:0100407 name: Complete duplication of the distal phalanx of the 3rd toe def: "Complete duplication of distal phalanx of third toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the third toe" EXACT [] -synonym: "Complete duplication of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020990 is_a: HP:0100398 ! Duplication of the distal phalanx of the 3rd toe @@ -129402,7 +129946,7 @@ id: HP:0100408 name: Complete duplication of the distal phalanx of the 4th toe def: "Complete duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the fourth toe" EXACT [] -synonym: "Complete duplication of the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020989 is_a: HP:0100399 ! Duplication of the distal phalanx of the 4th toe @@ -129411,9 +129955,9 @@ id: HP:0100409 name: Complete duplication of the distal phalanx of the 5th toe def: "Complete duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the fifth toe" EXACT [] -synonym: "Complete duplication of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020988 is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe @@ -129421,7 +129965,7 @@ is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe id: HP:0100410 name: Complete duplication of the middle phalanx of the 3rd toe def: "Complete duplication of middle phalanx of third toe." [HPO:sdoelken] -synonym: "Complete duplication of the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle phalanx of the third toe" EXACT [] xref: UMLS:C4020987 is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe @@ -129430,7 +129974,7 @@ is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe id: HP:0100411 name: Complete duplication of the middle phalanx of the 4th toe def: "Complete duplication of middle phalanx of fourth toe." [HPO:sdoelken] -synonym: "Complete duplication of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle phalanx of the fourth toe" EXACT [] xref: UMLS:C4020986 is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe @@ -129439,9 +129983,9 @@ is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe id: HP:0100412 name: Complete duplication of the middle phalanx of the 5th toe def: "Complete duplication of the middle phalanx of the 5th toe." [HPO:probinson] -synonym: "Complete duplication of the middle bone of the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the middle bone of the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the middle bone of the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle phalanx of the fifth toe" EXACT [] xref: UMLS:C4020985 is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe @@ -129450,14 +129994,14 @@ is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe id: HP:0100413 name: Complete duplication of the proximal phalanx of the 3rd toe def: "Partial or complete duplication of proximal phalanx of third toe." [HPO:sdoelken] -synonym: "Complete duplication of the innermost 3rd toe bone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Complete duplication of the innermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022105 is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe [Term] id: HP:0100414 name: Complete duplication of the proximal phalanx of the 4th toe -synonym: "Complete duplication of the innermost 4th toe bone" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Complete duplication of the innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022104 is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe @@ -129465,9 +130009,9 @@ is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe id: HP:0100415 name: Complete duplication of the proximal phalanx of the 5th toe def: "Complete duplication of the proximal phalanx of fifth toe." [HPO:sdoelken] -synonym: "Complete duplication of the innermost bone of the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the innermost bone of the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Complete duplication of the innermost bone of the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Complete duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Complete duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the proximal phalanx of the fifth toe" EXACT [] xref: UMLS:C4020984 is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe @@ -129477,7 +130021,7 @@ id: HP:0100416 name: Partial duplication of the distal phalanx of the 3rd toe def: "Partial duplication of distal phalanx of third toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the third toe" EXACT [] -synonym: "Partial duplication of the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020983 is_a: HP:0100398 ! Duplication of the distal phalanx of the 3rd toe @@ -129486,7 +130030,7 @@ id: HP:0100417 name: Partial duplication of the distal phalanx of the 4th toe def: "Partial duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the fourth toe" EXACT [] -synonym: "Partial duplication of the outermost bone of the fourth toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the fourth toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020982 is_a: HP:0100399 ! Duplication of the distal phalanx of the 4th toe @@ -129495,10 +130039,10 @@ id: HP:0100418 name: Partial duplication of the distal phalanx of the 5th toe def: "Partial duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the fifth toe" EXACT [] -synonym: "Partial duplication of the outermost bone of the fifth toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the fifth toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020981 is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe @@ -129506,7 +130050,7 @@ is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe id: HP:0100419 name: Partial duplication of the middle phalanx of the 3rd toe def: "Partial duplication of middle phalanx of third toe." [HPO:probinson] -synonym: "Partial duplication of the middle bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle phalanx of the third toe" EXACT [] xref: UMLS:C4020980 is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe @@ -129515,7 +130059,7 @@ is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe id: HP:0100420 name: Partial duplication of the middle phalanx of the 4th toe def: "Partial duplication of middle phalanx of fourth toe." [HPO:sdoelken] -synonym: "Partial duplication of the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle phalanx of the fourth toe" EXACT [] xref: UMLS:C4020979 is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe @@ -129524,9 +130068,9 @@ is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe id: HP:0100421 name: Partial duplication of the middle phalanx of the 5th toe def: "Partial duplication of the middle phalanx of the 5th toe." [HPO:probinson] -synonym: "Partial duplication of the middle bone of the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the middle bone of the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the middle bone of the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle phalanx of the fifth toe" EXACT [] xref: UMLS:C4020978 is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe @@ -129535,7 +130079,7 @@ is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe id: HP:0100422 name: Partial duplication of the proximal phalanx of the 3rd toe def: "Partial duplication of proximal phalanx of third toe." [HPO:probinson] -synonym: "Partial duplication of the innermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the proximal phalanx of the third toe" EXACT [] xref: UMLS:C4020977 is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe @@ -129543,7 +130087,7 @@ is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe [Term] id: HP:0100423 name: Partial duplication of the proximal phalanx of the 4th toe -synonym: "Partial duplication of the innermost bone of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022103 is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe @@ -129551,9 +130095,9 @@ is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe id: HP:0100424 name: Partial duplication of the proximal phalanx of the 5th toe def: "Partial duplication of the proximal phalanx of fifth toe." [HPO:sdoelken] -synonym: "Partial duplication of the innermost bone of the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the innermost bone of the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Partial duplication of the innermost bone of the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Partial duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Partial duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the proximal phalanx of the fifth toe" EXACT [] xref: UMLS:C4020976 is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe @@ -129561,7 +130105,7 @@ is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe [Term] id: HP:0100425 name: Broad middle phalanx of the 3rd toe -synonym: "Broad middle 3rd toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022102 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010360 ! Broad phalanges of the 3rd toe @@ -129570,7 +130114,7 @@ is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100426 name: Broad middle phalanx of the 4th toe -synonym: "Broad middle 4th toe bone" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Broad middle 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022101 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010372 ! Broad phalanges of the 4th toe @@ -129579,9 +130123,9 @@ is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100427 name: Broad middle phalanx of the 5th toe -synonym: "Broad middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022100 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010384 ! Broad phalanges of the 5th toe @@ -129590,7 +130134,7 @@ is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100428 name: Broad proximal phalanx of the 3rd toe -synonym: "Wide innermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wide innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022099 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010360 ! Broad phalanges of the 3rd toe @@ -129599,7 +130143,7 @@ is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100429 name: Broad proximal phalanx of the 4th toe -synonym: "Wide innermost bone of 4th toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Wide innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022098 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010372 ! Broad phalanges of the 4th toe @@ -129608,9 +130152,9 @@ is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100430 name: Broad proximal phalanx of the 5th toe -synonym: "Broad innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Broad innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Broad innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022097 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010384 ! Broad phalanges of the 5th toe @@ -129619,8 +130163,8 @@ is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100431 name: Broad distal phalanx of the 3rd toe -synonym: "Broad outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022096 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010360 ! Broad phalanges of the 3rd toe @@ -129629,8 +130173,8 @@ is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100432 name: Broad distal phalanx of the 4th toe -synonym: "Broad outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022095 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010372 ! Broad phalanges of the 4th toe @@ -129639,10 +130183,10 @@ is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100433 name: Broad distal phalanx of the 5th toe -synonym: "Broad outermost bone of the 5th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Wide outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Broad outermost bone of the 5th toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Wide outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022094 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010384 ! Broad phalanges of the 5th toe @@ -129652,7 +130196,7 @@ is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe id: HP:0100434 name: Bullet-shaped middle phalanx of the 3rd toe def: "An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022093 is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx @@ -129660,7 +130204,7 @@ is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx id: HP:0100435 name: Bullet-shaped middle phalanx of the 4th toe def: "An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022092 is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx @@ -129668,9 +130212,9 @@ is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx id: HP:0100436 name: Bullet-shaped middle phalanx of the 5th toe def: "An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped middle bone of the little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped middle bone of the pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped middle bone of the pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022091 is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx @@ -129678,7 +130222,7 @@ is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx id: HP:0100437 name: Bullet-shaped proximal phalanx of the 3rd toe def: "An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped proximal bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped proximal bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022090 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx @@ -129687,7 +130231,7 @@ is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx id: HP:0100438 name: Bullet-shaped proximal phalanx of the 4th toe def: "An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped proximal bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped proximal bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022089 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx @@ -129696,9 +130240,9 @@ is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx id: HP:0100439 name: Bullet-shaped proximal phalanx of the 5th toe def: "An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped innermost bone of little toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped innermost bone of pinkie toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped innermost bone of pinky toe" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022088 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx @@ -129707,7 +130251,7 @@ is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx id: HP:0100440 name: Bullet-shaped distal phalanx of the 3rd toe def: "An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022087 is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx @@ -129715,7 +130259,7 @@ is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx id: HP:0100441 name: Bullet-shaped distal phalanx of the 4th toe def: "An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022086 is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx @@ -129723,9 +130267,9 @@ is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx id: HP:0100442 name: Bullet-shaped distal phalanx of the 5th toe def: "An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] -synonym: "Bullet-shaped outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Bullet-shaped outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Bullet-shaped outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022085 is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx @@ -129733,7 +130277,7 @@ is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx id: HP:0100443 name: Curved middle phalanx of the 3rd toe def: "A deviation from the normal straight form of the middle phalanx of the third toe." [HPO:probinson] -synonym: "Curved middle bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022084 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx @@ -129743,7 +130287,7 @@ is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe id: HP:0100444 name: Curved middle phalanx of the 4th toe def: "A deviation from the normal straight form of the middle phalanx of the fourth toe." [HPO:probinson] -synonym: "Curved middle bone of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022083 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx @@ -129753,9 +130297,9 @@ is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe id: HP:0100445 name: Curved middle phalanx of the 5th toe def: "A deviation from the normal straight form of the middle phalanx of the fifth toe." [HPO:probinson] -synonym: "Curved middle bone of little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved middle bone of pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved middle bone of pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022082 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx @@ -129765,7 +130309,7 @@ is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe id: HP:0100446 name: Curved proximal phalanx of the 3rd toe def: "A deviation from the normal straight form of the proximal phalanx of the third toe." [HPO:probinson] -synonym: "Curved innermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022081 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx @@ -129775,7 +130319,7 @@ is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe id: HP:0100447 name: Curved proximal phalanx of the 4th toe def: "A deviation from the normal straight form of the proximal phalanx of the fourth toe." [HPO:probinson] -synonym: "Curved innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022080 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx @@ -129785,9 +130329,9 @@ is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe id: HP:0100448 name: Curved proximal phalanx of the 5th toe def: "A deviation from the normal straight form of the proximal phalanx of the fifth toe." [HPO:probinson] -synonym: "Curved innermost little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved innermost pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved innermost pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved innermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved innermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved innermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022079 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx @@ -129797,7 +130341,7 @@ is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe id: HP:0100449 name: Curved distal phalanx of the 3rd toe def: "A deviation from the normal straight form of the distal phalanx of the third toe." [HPO:probinson] -synonym: "Curved outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022078 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx @@ -129807,7 +130351,7 @@ is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe id: HP:0100450 name: Curved distal phalanx of the 4th toe def: "A deviation from the normal straight form of the distal phalanx of the fourth toe." [HPO:probinson] -synonym: "Curved outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022077 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx @@ -129817,9 +130361,9 @@ is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe id: HP:0100451 name: Curved distal phalanx of the 5th toe def: "A deviation from the normal straight form of the distal phalanx of the fifth toe." [HPO:probinson] -synonym: "Curved outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Curved outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Curved outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Curved outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022076 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx @@ -129864,28 +130408,28 @@ is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe [Term] id: HP:0100458 name: Osteolytic defects of the distal phalanx of the 3rd toe -synonym: "Osteolytic defects of the outermost bone of the 3rd toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Osteolytic defects of the outermost bone of the 3rd toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022069 is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe [Term] id: HP:0100459 name: Osteolytic defects of the distal phalanx of the 4th toe -synonym: "Osteolytic defects of the outermost bone of the 4th toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Osteolytic defects of the outermost bone of the 4th toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022068 is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe [Term] id: HP:0100460 name: Osteolytic defects of the distal phalanx of the 5th toe -synonym: "Osteolytic defects of the outermost bone of the 5th toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Osteolytic defects of the outermost bone of the 5th toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022067 is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe [Term] id: HP:0100461 name: Patchy sclerosis of the middle phalanx of the 3rd toe -synonym: "Uneven increase in bone density in the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022066 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx @@ -129895,7 +130439,7 @@ is_a: HP:0100936 ! Sclerosis of the middle phalanx of the 3rd toe id: HP:0100462 name: Patchy sclerosis of the middle phalanx of the 4th toe def: "Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] -synonym: "Uneven increase in bone density in middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022065 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx @@ -129905,9 +130449,9 @@ is_a: HP:0100937 ! Sclerosis of the middle phalanx of the 4th toe id: HP:0100463 name: Patchy sclerosis of the middle phalanx of the 5th toe def: "Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] -synonym: "Uneven increase in bone density in the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022064 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx @@ -129916,7 +130460,7 @@ is_a: HP:0100938 ! Sclerosis of the middle phalanx of the 5th toe [Term] id: HP:0100464 name: Patchy sclerosis of the proximal phalanx of the 3rd toe -synonym: "Uneven increase in bone density in the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022063 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx @@ -129926,7 +130470,7 @@ is_a: HP:0100932 ! Sclerosis of the proximal phalanx of the 3rd toe id: HP:0100465 name: Patchy sclerosis of the proximal phalanx of the 4th toe def: "Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] -synonym: "Uneven increase in bone density in the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022062 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx @@ -129936,9 +130480,9 @@ is_a: HP:0100933 ! Sclerosis of the proximal phalanx of the 4th toe id: HP:0100466 name: Patchy sclerosis of the proximal phalanx of the 5th toe def: "Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] -synonym: "Uneven increase in bone density in the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022061 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx @@ -129947,7 +130491,7 @@ is_a: HP:0100934 ! Sclerosis of the proximal phalanx of the 5th toe [Term] id: HP:0100467 name: Patchy sclerosis of the distal phalanx of the 3rd toe -synonym: "Uneven increase in bone density in the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022060 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx @@ -129957,7 +130501,7 @@ is_a: HP:0100940 ! Sclerosis of the distal phalanx of the 3rd toe id: HP:0100468 name: Patchy sclerosis of the distal phalanx of the 4th toe def: "Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] -synonym: "Uneven increase in bone density in the outermost bone of the 4th toe" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost bone of the 4th toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022059 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx @@ -129967,9 +130511,9 @@ is_a: HP:0100941 ! Sclerosis of the distal phalanx of the 4th toe id: HP:0100469 name: Patchy sclerosis of the distal phalanx of the 5th toe def: "Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] -synonym: "Uneven increase in bone density in the outermost little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the outermost pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Uneven increase in bone density in the outermost pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Uneven increase in bone density in the outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022058 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx @@ -129978,51 +130522,51 @@ is_a: HP:0100942 ! Sclerosis of the distal phalanx of the 5th toe [Term] id: HP:0100470 name: Symphalangism affecting the middle phalanx of the 3rd toe -synonym: "Fused middle bones of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022057 is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe [Term] id: HP:0100471 name: Symphalangism affecting the middle phalanx of the 4th toe -synonym: "Fused middle bones of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022056 is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe [Term] id: HP:0100472 name: Symphalangism affecting the middle phalanx of the 5th toe -synonym: "Fused middle bones of 5th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle bones of 5th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022055 is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe [Term] id: HP:0100473 name: Symphalangism affecting the proximal phalanx of the 3rd toe -synonym: "Fused innermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022054 is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe [Term] id: HP:0100474 name: Symphalangism affecting the proximal phalanx of the 4th toe -synonym: "Fused innermost bones of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022053 is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe [Term] id: HP:0100475 name: Symphalangism affecting the proximal phalanx of the 5th toe -synonym: "Fused innermost bone of little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost bone of pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost bone of pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022052 is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe [Term] id: HP:0100476 name: Symphalangism affecting the distal phalanx of the 3rd toe -synonym: "Fused outermost bone of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022051 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0100470 ! Symphalangism affecting the middle phalanx of the 3rd toe @@ -130030,7 +130574,7 @@ is_a: HP:0100470 ! Symphalangism affecting the middle phalanx of the 3rd toe [Term] id: HP:0100477 name: Symphalangism affecting the distal phalanx of the 4th toe -synonym: "Fused outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022050 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0100471 ! Symphalangism affecting the middle phalanx of the 4th toe @@ -130038,9 +130582,9 @@ is_a: HP:0100471 ! Symphalangism affecting the middle phalanx of the 4th toe [Term] id: HP:0100478 name: Symphalangism affecting the distal phalanx of the 5th toe -synonym: "Fused outermost bones of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused outermost bones of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Fused outermost bones of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused outermost bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused outermost bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused outermost bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022049 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0100472 ! Symphalangism affecting the middle phalanx of the 5th toe @@ -130049,7 +130593,7 @@ is_a: HP:0100472 ! Symphalangism affecting the middle phalanx of the 5th toe id: HP:0100480 name: Proximal/middle symphalangism of 3rd toe def: "Bony fusion of the middle and proximal phalanges of the 3rd toe." [HPO:sdoelken] -synonym: "Fused innermost and middle bones of 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost and middle bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the middle and proximal phalanges of the 3rd toe" EXACT [] xref: UMLS:C4020975 is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe @@ -130061,7 +130605,7 @@ is_a: HP:0100473 ! Symphalangism affecting the proximal phalanx of the 3rd toe id: HP:0100481 name: Proximal/middle symphalangism of 4th toe def: "Bony fusion of the middle and proximal phalanges of the 4th toe." [HPO:sdoelken] -synonym: "Fused innermost and middle bones of 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost and middle bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the middle and proximal phalanges of the 4th toe" EXACT [] xref: UMLS:C4020974 is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe @@ -130073,9 +130617,9 @@ is_a: HP:0100474 ! Symphalangism affecting the proximal phalanx of the 4th toe id: HP:0100482 name: Proximal/middle symphalangism of 5th toe def: "Bony fusion of the middle and proximal phalanges of the 5th toe." [HPO:sdoelken] -synonym: "Fused innermost and middle little toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost and middle pinkie toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Fused innermost and middle pinky toe bones" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost and middle little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost and middle pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Fused innermost and middle pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the middle and proximal phalanges of the 5th toe" EXACT [] xref: UMLS:C4020973 is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe @@ -130086,7 +130630,7 @@ is_a: HP:0100475 ! Symphalangism affecting the proximal phalanx of the 5th toe [Term] id: HP:0100483 name: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal -synonym: "Fused innermost bone of 2nd toe with the 2nd long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of 2nd toe with the 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022048 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe @@ -130095,7 +130639,7 @@ is_a: HP:0010401 ! Symphalangism affecting the proximal phalanx of the 2nd toe [Term] id: HP:0100484 name: Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal -synonym: "Fused innermost bones of third toe with 3rd long bone of foot" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fused innermost bones of third toe with 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022047 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe @@ -130104,7 +130648,7 @@ is_a: HP:0100473 ! Symphalangism affecting the proximal phalanx of the 3rd toe [Term] id: HP:0100485 name: Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal -synonym: "Fused innermost bone of the 4th toe with 4th long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost bone of the 4th toe with 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022046 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe @@ -130113,7 +130657,7 @@ is_a: HP:0100474 ! Symphalangism affecting the proximal phalanx of the 4th toe [Term] id: HP:0100486 name: Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal -synonym: "Fused innermost pinky toe bone with the 5th long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused innermost pinky toe bone with the 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022045 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe @@ -130122,16 +130666,16 @@ is_a: HP:0100475 ! Symphalangism affecting the proximal phalanx of the 5th toe [Term] id: HP:0100487 name: Triangular shaped distal phalanx of the 5th toe -synonym: "Triangular shaped outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Triangular shaped outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Triangular shaped outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022044 is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe [Term] id: HP:0100488 name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal -synonym: "Fusion of the innermost big toe bone with the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fusion of the innermost big toe bone with the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022043 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010073 ! Synostosis involving the 1st metatarsal @@ -130146,7 +130690,7 @@ id: HP:0100489 name: Proximal/middle symphalangism of 2nd toe alt_id: HP:0100479 def: "Bony fusion of the middle and proximal phalanges of the 2nd toe." [HPO:sdoelken] -synonym: "Fused middle and innermost bones of 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Fused middle and innermost bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the middle and proximal phalanges of the 2nd toe" EXACT [] xref: UMLS:C4020972 is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe @@ -130482,7 +131026,7 @@ id: HP:0100518 name: Dysuria def: "Painful or difficult urination." [HPO:probinson] synonym: "Dull burning sensation with urination" RELATED layperson [] -synonym: "Painful or difficult urination" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Painful or difficult urination" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D053159 xref: SNOMEDCT_US:49650001 xref: UMLS:C0013428 @@ -130494,7 +131038,7 @@ creation_date: 2010-12-20T10:40:36Z id: HP:0100519 name: Anuria def: "Absence of urine, clinically classified as below 50ml/day." [HPO:sdoelken] -synonym: "Absent urine output" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent urine output" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001002 xref: SNOMEDCT_US:2472002 xref: UMLS:C0003460 @@ -130550,8 +131094,8 @@ synonym: "Liver abscess" EXACT layperson [] xref: MSH:D008100 xref: SNOMEDCT_US:27916005 xref: UMLS:C0023885 -is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002722 ! Recurrent abscess formation +is_a: HP:0410042 ! Abnormal liver morphology created_by: doelkens creation_date: 2010-12-20T11:13:14Z @@ -130649,7 +131193,7 @@ name: Scleritis def: "Inflammation of the sclera." [HPO:probinson] comment: Scleritis may be accompanied by blurred vision, eye pain, redness of the (normally white) sclera, photophobia, and tearing. subset: hposlim_core -synonym: "Inflammation of the outer white part of the eye" BROAD layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of the outer white part of the eye" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015423 xref: SNOMEDCT_US:78370002 xref: UMLS:C0036416 @@ -130707,7 +131251,7 @@ creation_date: 2010-12-20T05:58:56Z id: HP:0100537 name: Fasciitis def: "Inflammation of fascia, the tissue under the skin and over the muscle." [HPO:probinson] -synonym: "Inflammation of the fascia" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of the fascia" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005208 xref: SNOMEDCT_US:36948007 xref: UMLS:C0015645 @@ -130720,11 +131264,11 @@ creation_date: 2010-12-20T05:59:18Z id: HP:0100538 name: Abnormality of the supraorbital ridges def: "An anomaly of the supraorbital portion of the frontal bones." [HPO:probinson] -synonym: "Abnormality of the brow of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the supraorbital margins" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the supraorbital ridges" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the supraorbital margins" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the supraorbital ridges" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the brow of the face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the supraorbital margins" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the supraorbital ridges" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the supraorbital margins" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the supraorbital ridges" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4022027 is_a: HP:0000606 ! Abnormality of the periorbital region created_by: doelkens @@ -130734,11 +131278,11 @@ creation_date: 2010-12-20T06:05:56Z id: HP:0100539 name: Periorbital edema def: "Edema affecting the region situated around the orbit of the eye." [HPO:probinson] -synonym: "Periorbital cellulitis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Periorbital swelling" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Puffiness around the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Periorbital cellulitis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Periorbital swelling" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Puffiness around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Puffy eyes" EXACT layperson [] -synonym: "Swelling around the eyes" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Swelling around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109245003 xref: SNOMEDCT_US:267041004 xref: SNOMEDCT_US:49563000 @@ -130757,10 +131301,10 @@ alt_id: HP:0000626 def: "Edema in the region of the eyelids." [HPO:probinson] synonym: "Edema of the eyelids" EXACT [] synonym: "Eyelid edema" EXACT [] -synonym: "Fullness of eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fullness of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Puffy eyelids" EXACT layperson [] synonym: "Puffy lids" EXACT layperson [] -synonym: "Swelling of eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Swelling of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:89091004 xref: UMLS:C0162285 is_a: HP:0000492 ! Abnormal eyelid morphology @@ -130826,7 +131370,7 @@ name: Neoplasm of the heart def: "A tumor (abnormal growth of tissue) of the heart." [HPO:probinson] synonym: "Cardiac neoplasia" RELATED [] synonym: "Cardiac neoplasm" EXACT [] -synonym: "Heart tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Heart tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006338 xref: SNOMEDCT_US:387842002 xref: UMLS:C0018809 @@ -130839,7 +131383,7 @@ creation_date: 2010-12-20T07:00:31Z id: HP:0100545 name: Arterial stenosis def: "Narrowing or constriction of the inner surface (lumen) of an artery." [HPO:probinson] -synonym: "Narrowing of an artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of an artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:68109007 xref: UMLS:C0038449 is_a: HP:0011004 ! Abnormal systemic arterial morphology @@ -130852,7 +131396,7 @@ name: Carotid artery stenosis def: "Narrowing of the carotid arteries." [HPO:probinson] comment: Carotid artery stenosis is usually caused by caused by atherosclerosis. synonym: "Carotid stenosis" EXACT [] -synonym: "Narrowing of carotid artery" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Narrowing of carotid artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D016893 xref: SNOMEDCT_US:64586002 xref: UMLS:C0007282 @@ -130865,7 +131409,7 @@ creation_date: 2010-12-21T01:31:46Z id: HP:0100547 name: Abnormality of forebrain morphology def: "An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle." [HPO:probinson] -synonym: "Abnormal shape of forebrain" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of forebrain" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the forebrain" EXACT [] xref: UMLS:C4020967 is_a: HP:0012443 ! Abnormality of brain morphology @@ -130905,7 +131449,7 @@ synonym: "Tracheal neoplasm" EXACT [] xref: MSH:D014134 xref: SNOMEDCT_US:126703006 xref: UMLS:C0040582 -is_a: HP:0002778 ! Abnormality of the trachea +is_a: HP:0002778 ! Abnormal trachea morphology is_a: HP:0100552 ! Neoplasm of the tracheobronchial system created_by: doelkens creation_date: 2010-12-21T03:44:37Z @@ -130914,7 +131458,7 @@ creation_date: 2010-12-21T03:44:37Z id: HP:0100552 name: Neoplasm of the tracheobronchial system xref: UMLS:C4022026 -is_a: HP:0005607 ! Abnormality of the tracheobronchial system +is_a: HP:0005607 ! Abnormal tracheobronchial morphology is_a: HP:0100526 ! Neoplasm of the lung created_by: doelkens creation_date: 2010-12-21T03:46:30Z @@ -130923,7 +131467,7 @@ creation_date: 2010-12-21T03:46:30Z id: HP:0100553 name: Hemihypertrophy of lower limb def: "Overgrowth of only one leg." [HPO:probinson] -synonym: "Overgrowth of one leg" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Overgrowth of one leg" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205369009 xref: UMLS:C0431928 is_a: HP:0001528 ! Hemihypertrophy @@ -130936,7 +131480,7 @@ creation_date: 2010-12-21T03:58:40Z id: HP:0100554 name: Hemihypertrophy of upper limb def: "Overgrowth of only one arm." [HPO:probinson] -synonym: "Overgrowth of one arm" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Overgrowth of one arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:253920006 xref: UMLS:C0431810 is_a: HP:0001528 ! Hemihypertrophy @@ -130973,7 +131517,7 @@ creation_date: 2010-12-21T04:01:10Z id: HP:0100557 name: Hemiatrophy of lower limb def: "Unilateral atrophy (reduction in size) of a leg." [HPO:probinson] -synonym: "Asymmetric lower limb shortening" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Asymmetric lower limb shortening" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:709411004 xref: UMLS:C0431934 is_a: HP:0100556 ! Hemiatrophy @@ -130986,7 +131530,7 @@ id: HP:0100558 name: Hemiatrophy of upper limb alt_id: HP:0200052 def: "Unilateral atrophy (reduction in size) of an arm." [HPO:probinson] -synonym: "Asymmetric upper limb shortening" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Asymmetric upper limb shortening" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hemihypotrophy of upper limb" EXACT [] xref: SNOMEDCT_US:253921005 xref: UMLS:C0431814 @@ -131031,7 +131575,7 @@ creation_date: 2010-12-21T04:34:03Z id: HP:0100562 name: Diplomyelia def: "Duplication of the spinal cord." [HPO:sdoelken] -synonym: "Duplication of spinal cord" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Duplication of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:360527003 xref: UMLS:C1260890 is_a: HP:0100561 ! Spinal cord lesion @@ -131051,7 +131595,7 @@ creation_date: 2010-12-21T04:35:22Z id: HP:0100564 name: Triplomyelia def: "Triplication of the spinal cord - extremely rare." [HPO:sdoelken] -synonym: "Triplication of spinal cord" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Triplication of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022022 is_a: HP:0100561 ! Spinal cord lesion created_by: doelkens @@ -131072,7 +131616,7 @@ creation_date: 2010-12-21T04:35:22Z id: HP:0100566 name: Amyelia def: "Congenital absence of the spinal cord." [HPO:sdoelken] -synonym: "Absent spinal cord" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:78784005 xref: UMLS:C0266510 is_a: HP:0100561 ! Spinal cord lesion @@ -131097,7 +131641,7 @@ creation_date: 2010-12-21T04:55:15Z id: HP:0100569 name: Abnormal vertebral ossification def: "An abnormality of the formation and mineralization of one or more vertebrae." [HPO:probinson] -synonym: "Abnormal bone maturation of vertebra" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal bone maturation of vertebra" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of ossification/mineralisation of vertebrae" EXACT [] xref: UMLS:C4020966 is_a: HP:0003336 ! Abnormal enchondral ossification @@ -131230,7 +131774,7 @@ id: HP:0100580 name: Barrett esophagus def: "An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system." [HPO:sdoelken] comment: The medical significance of Barrett esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer. -synonym: "Barret syndrome" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Barret syndrome" EXACT [ORCID:0000-0001-5208-3432] synonym: "Barrett's esophagus" EXACT [] synonym: "Endobrachyesophagus" EXACT [] xref: MSH:D001471 @@ -131258,7 +131802,7 @@ name: Nasal polyposis alt_id: HP:0000462 def: "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken] synonym: "Nasal polyps" EXACT [] -synonym: "Polys of nose" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Polys of nose" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D009298 xref: SNOMEDCT_US:52756005 xref: UMLS:C0027430 @@ -131276,7 +131820,7 @@ xref: MSH:D057112 xref: SNOMEDCT_US:74895004 xref: UMLS:C0339293 xref: UMLS:C0948060 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: doelkens creation_date: 2010-12-27T02:52:19Z @@ -131403,7 +131947,7 @@ def: "The nostrils (the paired channels of the nose) are not present." [HPO:prob synonym: "Abouphalia" EXACT [] synonym: "Aplasia of the nares" EXACT [] synonym: "Aplasia/Hypoplasia of the nares" RELATED [] -synonym: "Missing nostrils" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Missing nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4020707 xref: UMLS:C4020963 is_a: HP:0005288 ! Abnormality of the nares @@ -131414,10 +131958,10 @@ creation_date: 2010-12-27T05:07:16Z id: HP:0100598 name: Pulmonary edema def: "Fluid accumulation in the lungs." [HPO:sdoelken] -synonym: "Excess fluid in lungs" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Excess fluid in lungs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Lung edema" EXACT [] synonym: "Pulmonary oedema" EXACT [] -synonym: "Wet lung" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wet lung" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D011654 xref: SNOMEDCT_US:19242006 xref: UMLS:C0034063 @@ -131493,7 +132037,7 @@ creation_date: 2010-12-27T05:27:41Z id: HP:0100604 name: Neoplasm of the lip def: "A tumor (abnormal growth of tissue) of the lip." [HPO:probinson] -synonym: "Lip tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Lip tumor" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Neoplasia of the lip" RELATED [] synonym: "Tumor of the lip" RELATED layperson [] xref: MSH:D008048 @@ -131520,7 +132064,7 @@ creation_date: 2010-12-27T06:07:16Z id: HP:0100606 name: Neoplasm of the respiratory system def: "A tumor (abnormal growth of tissue) of the respiratory system." [HPO:probinson] -synonym: "Respiratory system tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Respiratory system tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012142 xref: SNOMEDCT_US:126667002 xref: SNOMEDCT_US:448708002 @@ -131534,7 +132078,7 @@ creation_date: 2010-12-27T06:08:41Z id: HP:0100607 name: Dysmenorrhea def: "Pain during menstruation that interferes with daily activities." [ISBN:0-7216-0179-0] -synonym: "Painful menstruation" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Painful menstruation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004412 xref: SNOMEDCT_US:266599000 xref: SNOMEDCT_US:289900009 @@ -131548,7 +132092,7 @@ creation_date: 2010-12-27T06:13:30Z id: HP:0100608 name: Metrorrhagia def: "Bleeding at irregular intervals." [pmid:22594864] -synonym: "Abnormal uterus bleeding" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal uterus bleeding" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D008796 xref: SNOMEDCT_US:19155002 xref: SNOMEDCT_US:237130006 @@ -131563,14 +132107,12 @@ id: HP:0100609 name: obsolete Hypermenorrhea is_obsolete: true replaced_by: HP:0000132 -created_by: doelkens -creation_date: 2010-12-27T06:16:02Z [Term] id: HP:0100610 name: Maternal hyperphenylalaninemia def: "A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy." [HPO:probinson] -synonym: "High blood phenylalanine level in mother" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High blood phenylalanine level in mother" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022014 is_a: HP:0002686 ! Prenatal maternal abnormality is_a: HP:0010893 ! Abnormality of phenylalanine metabolism @@ -131619,7 +132161,7 @@ id: HP:0100614 name: Myositis def: "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken] comment: Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis. -synonym: "Muscle inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Muscle inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009220 xref: SNOMEDCT_US:128496001 xref: SNOMEDCT_US:26889001 @@ -131637,7 +132179,7 @@ synonym: "Neoplasm of the ovaries" EXACT [] synonym: "Neoplasm of the ovary" EXACT [] synonym: "Ovarian cancer" BROAD layperson [] synonym: "Ovarian neoplasia" RELATED [] -synonym: "Ovarian tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Ovarian tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010051 xref: SNOMEDCT_US:123843001 xref: UMLS:C0919267 @@ -131752,7 +132294,7 @@ creation_date: 2010-12-28T04:14:55Z [Term] id: HP:0100626 name: Chronic hepatic failure -synonym: "Chronic liver failure" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Chronic liver failure" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D058625 xref: SNOMEDCT_US:235886005 xref: UMLS:C2936476 @@ -131792,8 +132334,8 @@ name: Midline facial cleft def: "A congenital malformation with a cleft (gap or opening) in the midline of the face." [HPO:probinson] comment: Midline facial clefts correspond to Tessier number 0,14, and 30. synonym: "Midline facial cleft" EXACT layperson [] -synonym: "Tessier facial cleft number 0" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Tessier facial cleft number 14" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Tessier facial cleft number 0" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Tessier facial cleft number 14" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022007 is_a: HP:0002006 ! Facial cleft created_by: doelkens @@ -131804,7 +132346,7 @@ id: HP:0100630 name: Neoplasia of the nasopharynx synonym: "Nasopharyngeal neoplasm" EXACT [] synonym: "Neoplasm of the nasopharynx" EXACT [] -synonym: "Tumor of the nasopharynx" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Tumor of the nasopharynx" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D009303 xref: SNOMEDCT_US:126680004 xref: UMLS:C0027439 @@ -131844,7 +132386,7 @@ id: HP:0100633 name: Esophagitis def: "Inflammation of the esophagus." [HPO:probinson] subset: hposlim_core -synonym: "Inflammation of the esophagus" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of the esophagus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Oesophagitis" EXACT [] xref: MEDDRA:10030216 "Oesophagitis" xref: MSH:D004941 @@ -131892,8 +132434,6 @@ id: HP:0100637 name: obsolete Neoplasia of the nose is_obsolete: true replaced_by: HP:0012720 -created_by: doelkens -creation_date: 2010-12-29T05:31:36Z [Term] id: HP:0100638 @@ -131903,7 +132443,7 @@ def: "A neoplasm originating in the pharynx." [] comment: Tumors of pharynx may present with nonspecific findings such as otalgia or unilateral otitis media. synonym: "Neoplasia of the pharynx" EXACT [] synonym: "Pharyngeal neoplasm" EXACT [] -synonym: "Tumor of the pharynx" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Tumor of the pharynx" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D010610 xref: SNOMEDCT_US:126685009 xref: UMLS:C0031347 @@ -131999,7 +132539,7 @@ creation_date: 2010-12-29T06:05:01Z id: HP:0100646 name: Thyroiditis def: "Inflammation of the thyroid gland." [HPO:probinson] -synonym: "Thyroid gland inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Thyroid gland inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D013966 xref: SNOMEDCT_US:82119001 xref: UMLS:C0040147 @@ -132037,11 +132577,11 @@ creation_date: 2010-12-29T06:14:32Z id: HP:0100649 name: Neoplasm of the oral cavity def: "A tumor (abnormal growth of tissue) of the oral cavity." [HPO:probinson] -synonym: "Lesion of mouth" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Lesion of oral cavity" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Neoplasm of the mouth" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Tumor of mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Tumor of oral cavity" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lesion of mouth" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Lesion of oral cavity" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Neoplasm of the mouth" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Tumor of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Tumor of oral cavity" NARROW layperson [ORCID:0000-0001-5889-4463] xref: MSH:D009062 xref: SNOMEDCT_US:1071000119107 xref: SNOMEDCT_US:126797001 @@ -132059,7 +132599,7 @@ id: HP:0100650 name: Vaginal neoplasm def: "A tumor (abnormal growth of tissue) of the vagina." [HPO:probinson] synonym: "Vaginal neoplasia" RELATED [] -synonym: "Vaginal tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Vaginal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014625 xref: SNOMEDCT_US:126921000 xref: UMLS:C0042258 @@ -132142,7 +132682,7 @@ alt_id: HP:0003553 def: "A bacterial infection and inflammation of the skin und subcutaneous tissues." [] comment: In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. subset: hposlim_core -synonym: "Bacterial infection of skin" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bacterial infection of skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Skin infection" EXACT layperson [] xref: MSH:D002481 xref: MSH:D017192 @@ -132158,7 +132698,7 @@ creation_date: 2010-12-30T10:11:51Z [Term] id: HP:0100659 name: Abnormality of the cerebral vasculature -synonym: "Abnormality of the cerebral blood vessels" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormality of the cerebral blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022001 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012443 ! Abnormality of brain morphology @@ -132239,7 +132779,7 @@ synonym: "Gut duplication" RELATED layperson [] xref: SNOMEDCT_US:3845008 xref: UMLS:C0266166 xref: UMLS:C4020702 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0011140 ! Gastrointestinal duplication created_by: doelkens creation_date: 2010-12-30T01:23:50Z @@ -132248,9 +132788,9 @@ creation_date: 2010-12-30T01:23:50Z id: HP:0100669 name: Abnormal pigmentation of the oral mucosa def: "An abnormality of the pigmentation of the mucosa of the mouth." [HPO:probinson] -synonym: "Abnormal color of the oral mucosa" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal color of the oral mucosa" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal pigmentation of oral cavity" EXACT [] -synonym: "Abnormal pigmentation of oral mucous membrane" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal pigmentation of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal pigmentation of the oral mucosa/gingivae" EXACT [] xref: UMLS:C4020959 is_a: HP:0011830 ! Abnormality of oral mucosa @@ -132270,7 +132810,7 @@ creation_date: 2010-12-30T01:29:46Z id: HP:0100671 name: Abnormal trabecular bone morphology def: "Abnormal structure or form of trabecular bone." [HPO:probinson] -synonym: "Abnormal shape of spongy bone" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of spongy bone" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of bone trabeculation" EXACT [] xref: UMLS:C4020957 is_a: HP:0003330 ! Abnormal bone structure @@ -132393,9 +132933,9 @@ creation_date: 2010-12-30T02:09:37Z id: HP:0100684 name: Salivary gland neoplasm def: "A tumor (abnormal growth of tissue) of a salivary gland." [HPO:probinson] -synonym: "Cancer of salivary gland" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cancer of salivary gland" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Salivary gland neoplasia" EXACT [] -synonym: "Tumor of salivary gland" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Tumor of salivary gland" NARROW layperson [ORCID:0000-0001-5889-4463] xref: MSH:D012468 xref: SNOMEDCT_US:235132004 xref: SNOMEDCT_US:255072001 @@ -132408,8 +132948,9 @@ creation_date: 2010-12-30T02:20:38Z [Term] id: HP:0100685 -name: Abnormality of Sharpey fibers +name: Abnormal Sharpey fiber morphology def: "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone." [HPO:probinson] +synonym: "Abnormality of Sharpey fibers" EXACT [] synonym: "Enthesis abnormality" RELATED [] xref: UMLS:C4020701 xref: UMLS:C4021997 @@ -132423,7 +132964,7 @@ name: Enthesitis synonym: "Inflammation of sharpey fibers" EXACT [] xref: SNOMEDCT_US:359643005 xref: UMLS:C1282952 -is_a: HP:0100685 ! Abnormality of Sharpey fibers +is_a: HP:0100685 ! Abnormal Sharpey fiber morphology created_by: doelkens creation_date: 2010-12-30T02:27:20Z @@ -132461,7 +133002,7 @@ creation_date: 2011-02-18T04:52:59Z id: HP:0100691 name: Abnormality of the curvature of the cornea xref: UMLS:C4021995 -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology created_by: doelkens creation_date: 2011-02-18T04:58:48Z @@ -132739,7 +133280,7 @@ creation_date: 2011-06-06T02:16:53Z [Term] id: HP:0100720 name: Hypoplasia of the ear cartilage -synonym: "Underdeveloped ear cartilage" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Underdeveloped ear cartilage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021986 is_a: HP:0000377 ! Abnormality of the pinna created_by: doelkens @@ -132831,9 +133372,9 @@ creation_date: 2011-06-06T04:46:36Z [Term] id: HP:0100729 name: Large face -synonym: "Big face" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Big face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large face" EXACT layperson [] -synonym: "Large facies" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Large facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C2748652 is_a: HP:0001999 ! Abnormal facial shape created_by: doelkens @@ -132858,9 +133399,9 @@ def: "A horizontal cleft of the face, varying from slight widening of the mouth, comment: Usually, these clefts are unilateral and do not extend beyond the anterior border of the masseter. Transverse clefts are thought to develop either due to failure of the maxillary and mandibular processes to fuse or a disruption in the processes after fusing. synonym: "Lateral facial cleft" EXACT [] synonym: "Tessier cleft number 7" EXACT [] -synonym: "Tessier facial cleft number 6" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Tessier facial cleft number 6" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tessier facial cleft number 7" EXACT [] -synonym: "Tessier facial cleft number 8" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Tessier facial cleft number 8" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4020954 is_a: HP:0002006 ! Facial cleft is_a: HP:0011338 ! Abnormality of mouth shape @@ -132893,7 +133434,7 @@ creation_date: 2011-06-06T05:09:38Z id: HP:0100734 name: Abnormality of vertebral epiphysis morphology def: "An anomaly of one or more epiphyses of one or more vertebrae." [] -synonym: "Abnormal shape of the end part of the vertebra bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal shape of the end part of the vertebra bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the vertebral epiphyses" EXACT [] xref: UMLS:C4020953 is_a: HP:0003468 ! Abnormal vertebral morphology @@ -132914,8 +133455,8 @@ creation_date: 2011-06-06T05:38:31Z id: HP:0100736 name: Abnormality of the soft palate def: "An abnormality of the soft palate." [HPO:probinson] -synonym: "Abnormality of the muscular palate" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the velum" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the muscular palate" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the velum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the velum palatinum" EXACT [HPO:skoehler] xref: UMLS:C4021984 is_a: HP:0000174 ! Abnormality of the palate @@ -132925,7 +133466,7 @@ creation_date: 2011-06-06T05:41:48Z [Term] id: HP:0100737 name: Abnormality of the hard palate -synonym: "Abnormality of the secondary palate" BROAD [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the secondary palate" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C4021983 is_a: HP:0000174 ! Abnormality of the palate created_by: doelkens @@ -132946,7 +133487,7 @@ creation_date: 2011-06-06T05:54:51Z id: HP:0100739 name: Bulimia def: "A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these)." [HPO:probinson, pmid:23346610] -synonym: "Binge and purge" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Binge and purge" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D002032 xref: SNOMEDCT_US:78004001 xref: UMLS:C0006370 @@ -132958,7 +133499,7 @@ creation_date: 2011-06-06T05:55:43Z id: HP:0100742 name: Vascular neoplasm def: "A benign or malignant neoplasm (tumour) originating in the vascular system." [HPO:probinson] -synonym: "Blood vessel tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Blood vessel tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009383 xref: MSH:D019043 xref: SNOMEDCT_US:115235003 @@ -132974,7 +133515,7 @@ creation_date: 2011-06-06T06:08:26Z [Term] id: HP:0100743 name: Neoplasm of the rectum -synonym: "Rectal tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Rectal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012004 xref: SNOMEDCT_US:126847008 xref: UMLS:C0034885 @@ -133064,7 +133605,7 @@ creation_date: 2011-06-06T06:38:53Z id: HP:0100751 name: Esophageal neoplasm def: "A tumor (abnormal growth of tissue) of the esophagus." [] -synonym: "Esophageal tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Esophageal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004938 xref: SNOMEDCT_US:126817006 xref: UMLS:C0014859 @@ -133114,7 +133655,7 @@ creation_date: 2011-06-07T09:54:05Z [Term] id: HP:0100755 name: Abnormality of salivation -synonym: "Abnormal spit" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal spit" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of salivation" EXACT layperson [] xref: UMLS:C4021978 is_a: HP:0000163 ! Abnormality of the oral cavity @@ -133290,8 +133831,8 @@ creation_date: 2011-06-07T11:45:59Z [Term] id: HP:0100770 name: Hyperperistalsis -def: "Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine." [] {comment="HPO:probinson"} -synonym: "Stomach churning" BROAD layperson [http://orcid.org/0000-0001-5208-3432, http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html] +def: "Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine." [HPO:probinson] +synonym: "Stomach churning" BROAD layperson [http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:271838002 xref: SNOMEDCT_US:80306002 xref: UMLS:C0232474 @@ -133327,7 +133868,7 @@ name: Hyperostosis def: "Excessive growth or abnormal thickening of bone tissue." [HPO:probinson] comment: Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). synonym: "Bone Hypertrophy" EXACT [] -synonym: "Bone overgrowth" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Bone overgrowth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015576 xref: SNOMEDCT_US:13814009 xref: SNOMEDCT_US:203514008 @@ -133351,7 +133892,7 @@ id: HP:0100776 name: Recurrent pharyngitis def: "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson] synonym: "Pharyngitis, recurrent" EXACT [] -synonym: "Recurrent sore throat" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Recurrent sore throat" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0747556 is_a: HP:0002788 ! Recurrent upper respiratory tract infections is_a: HP:0025439 ! Pharyngitis @@ -133448,7 +133989,7 @@ creation_date: 2011-06-07T06:14:22Z [Term] id: HP:0100786 name: Hypersomnia -synonym: "Excessive sleepiness" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Excessive sleepiness" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006970 xref: SNOMEDCT_US:77692006 xref: UMLS:C0917799 @@ -133471,9 +134012,9 @@ id: HP:0100788 name: Fused lips def: "Lack of separation of the upper and lower lips." [HPO:probinson] subset: hposlim_core -synonym: "Adhesion of upper and lower lips" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Adhesion of upper and lower lips" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Fused lips" EXACT layperson [] -synonym: "Fusion of upper and lower lips" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Fusion of upper and lower lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021970 is_a: HP:0000159 ! Abnormality of the lip created_by: doelkens @@ -133484,9 +134025,9 @@ id: HP:0100789 name: Torus palatinus def: "A bony protrusion present on the midline of the hard palate." [HPO:sdoelken] subset: hposlim_core -synonym: "Maxillary torus" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Palatal tori" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Palatal torus" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Maxillary torus" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Palatal tori" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Palatal torus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Palate exostoses" EXACT [] synonym: "Prominent midpalatal ridge" RELATED [HPO:skoehler] xref: SNOMEDCT_US:244683008 @@ -133541,7 +134082,7 @@ creation_date: 2011-06-08T03:52:57Z id: HP:0100796 name: Orchitis def: "Testicular inflammation." [HPO:sdoelken] -synonym: "Inflammation of testicles" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Inflammation of testicles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009920 xref: SNOMEDCT_US:274718005 xref: UMLS:C0029191 @@ -133553,7 +134094,7 @@ creation_date: 2011-06-08T04:18:06Z id: HP:0100797 name: Toenail dysplasia def: "An abnormality of the development of the toenails." [HPO:probinson] -synonym: "Abnormal toenail development" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal toenail development" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Dysplastic toenails" EXACT [] xref: UMLS:C3276623 is_a: HP:0002164 ! Nail dysplasia @@ -133566,7 +134107,7 @@ id: HP:0100798 name: Fingernail dysplasia def: "An abnormality of the development of the fingernails." [HPO:probinson] comment: If possible, a more precise term should be chosen for annotation. -synonym: "Abnormal fingernail development" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal fingernail development" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Dysplastic fingernails" EXACT [] xref: UMLS:C4020952 is_a: HP:0001231 ! Abnormality of the fingernails @@ -133578,7 +134119,7 @@ creation_date: 2011-06-08T04:23:53Z id: HP:0100799 name: Neoplasm of the middle ear def: "A tumor (abnormal growth of tissue) of the middle ear." [HPO:probinson] -synonym: "Middle ear tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Middle ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Neoplasia of the middle ear" EXACT [] xref: SNOMEDCT_US:127006003 xref: UMLS:C0345617 @@ -133591,8 +134132,8 @@ creation_date: 2011-06-08T04:25:43Z id: HP:0100800 name: Aplasia/Hypoplasia of the pancreas def: "A congenital underdevelopment (aplasia or hypoplasia) of the pancreas." [HPO:sdoelken] -synonym: "Absent/small pancreas" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped pancreas" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021968 is_a: HP:0012094 ! Abnormal pancreas size created_by: doelkens @@ -133602,7 +134143,7 @@ creation_date: 2011-06-09T11:45:58Z id: HP:0100801 name: Pancreatic aplasia def: "Aplasia of the pancreas." [HPO:sdoelken] -synonym: "Absent pancreas" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021967 is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas created_by: doelkens @@ -133612,7 +134153,7 @@ creation_date: 2011-06-09T11:46:59Z id: HP:0100802 name: Malposition of the stomach def: "Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation." [HPO:probinson, pmid:16465538] -synonym: "Abnormal stomach location" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Abnormal stomach location" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Gastric ectopia" EXACT [] synonym: "Gastric malposition" EXACT [] xref: UMLS:C1402983 @@ -133690,9 +134231,9 @@ creation_date: 2011-06-09T01:43:31Z id: HP:0100809 name: Scalp tenderness def: "Pain or discomfort of the scalp elicited by palpation." [HPO:probinson] -synonym: "Allodynia of scalp" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Allodynia of scalp" NARROW [ORCID:0000-0001-5889-4463] synonym: "Scalp hypersensitivity" EXACT [] -synonym: "Scalp pain" BROAD layperson [orcid.org/0000-0001-5889-4463] +synonym: "Scalp pain" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Scalp tenderness" EXACT layperson [] xref: MEDDRA:10039521 "Scalp tenderness" xref: SNOMEDCT_US:75851004 @@ -133707,8 +134248,8 @@ creation_date: 2011-06-09T01:46:12Z id: HP:0100810 name: Pointed helix synonym: "Elfin ear" EXACT [] -synonym: "Pointed ear" BROAD layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Spock's ear" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Pointed ear" BROAD layperson [ORCID:0000-0001-5208-3432] +synonym: "Spock's ear" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020951 is_a: HP:0011039 ! Abnormality of the helix created_by: doelkens @@ -133718,8 +134259,8 @@ creation_date: 2011-06-09T01:51:46Z id: HP:0100811 name: Aplasia/Hypoplasia of the colon def: "Congenital absence or underdevelopment of the colon." [HPO:probinson] -synonym: "Absent/small colon" EXACT layperson [http://orcid.org/0000-0001-5208-3432] -synonym: "Absent/underdeveloped colon" EXACT layperson [http://orcid.org/0000-0001-5208-3432] +synonym: "Absent/small colon" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Absent/underdeveloped colon" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021964 is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0005245 ! Intestinal hypoplasia @@ -133771,9 +134312,9 @@ creation_date: 2011-06-09T02:15:28Z [Term] id: HP:0100816 name: Lip hyperpigmentation -synonym: "Darkening of skin of the lips" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Hyperpigmentation of lip vermillion" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased pigmentation on the lips" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Darkening of skin of the lips" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperpigmentation of lip vermillion" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased pigmentation on the lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021963 is_a: HP:0000159 ! Abnormality of the lip is_a: HP:0007400 ! Irregular hyperpigmentation @@ -133800,7 +134341,7 @@ id: HP:0100818 name: Long thorax def: "Increased inferior to superior extent of the thorax." [HPO:probinson] subset: hposlim_core -synonym: "Long rib cage" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Long rib cage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:298710001 xref: UMLS:C0575484 is_a: HP:0100625 ! Enlarged thorax @@ -133816,7 +134357,7 @@ xref: MEDDRA:10022647 "Intestinal fistula" xref: MSH:D007412 xref: SNOMEDCT_US:38851006 xref: UMLS:C0021833 -is_a: HP:0002242 ! Abnormality of the intestine +is_a: HP:0002242 ! Abnormal intestine morphology created_by: doelkens creation_date: 2011-06-09T04:57:15Z @@ -133870,8 +134411,8 @@ name: Cheilitis def: "Inflammation of the lip." [HPO:sdoelken] comment: It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma. subset: hposlim_core -synonym: "Inflammation of the lips" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Red and sore lips" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Inflammation of the lips" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Red and sore lips" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D002613 xref: SNOMEDCT_US:7847004 xref: UMLS:C0007971 @@ -133884,7 +134425,7 @@ creation_date: 2011-06-09T05:18:41Z id: HP:0100826 name: Neoplasm of the nail def: "A tumor (abnormal growth of tissue) of the nail." [HPO:probinson] -synonym: "Nail tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Nail tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021961 is_a: HP:0001597 ! Abnormality of the nail is_a: HP:0011793 ! Neoplasm by anatomical site @@ -133896,7 +134437,7 @@ id: HP:0100827 name: Lymphocytosis alt_id: HP:0012141 def: "Increase in the number or proportion of lymphocytes in the blood." [HPO:sdoelken] -synonym: "High lymphocyte count" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "High lymphocyte count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D008218 xref: SNOMEDCT_US:67023009 xref: UMLS:C0024282 @@ -133921,7 +134462,7 @@ id: HP:0100829 name: Galactorrhea def: "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing." [HPO:sdoelken] synonym: "Galactorrhoea" EXACT [] -synonym: "Spontaneous milk flow from breast" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Spontaneous milk flow from breast" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005687 xref: UMLS:C3665358 is_a: HP:0031094 ! Abnormal breast physiology @@ -133952,7 +134493,7 @@ id: HP:0100832 name: Vitreous floaters def: "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent." [HPO:sdoelken] comment: Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. -synonym: "Eye floaters" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Eye floaters" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flitting flies" EXACT [] synonym: "Mouches volantes" EXACT [] synonym: "Myodeopsia" EXACT [] @@ -133977,7 +134518,7 @@ id: HP:0100833 name: Neoplasm of the small intestine def: "The presence of a neoplasm of the small intestine." [HPO:probinson] comment: An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas. -synonym: "Small intestine tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small intestine tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:126832004 xref: UMLS:C0345832 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract @@ -133988,7 +134529,7 @@ creation_date: 2011-06-09T06:03:02Z id: HP:0100834 name: Neoplasm of the large intestine def: "The presence of a neoplasm of the large intestine." [HPO:probinson] -synonym: "Large intestine tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Large intestine tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015179 xref: SNOMEDCT_US:126837005 xref: UMLS:C0009404 @@ -134046,11 +134587,11 @@ creation_date: 2011-06-09T06:35:07Z id: HP:0100839 name: Hepatic agenesis def: "Absence of the liver owing to a failure of the liver to develop." [HPO:probinson] -synonym: "Failed liver development" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Failed liver development" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Liver agenesis" EXACT [] xref: SNOMEDCT_US:3650004 xref: UMLS:C0266258 -is_a: HP:0001392 ! Abnormality of the liver +is_a: HP:0410042 ! Abnormal liver morphology created_by: doelkens creation_date: 2011-06-09T06:37:25Z @@ -134058,11 +134599,11 @@ creation_date: 2011-06-09T06:37:25Z id: HP:0100840 name: Aplasia/Hypoplasia of the eyebrow def: "Absence or underdevelopment of the eyebrow." [HPO:probinson] -synonym: "Absence of eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of eyebrow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypotrophic eyebrow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Lack of eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing eyebrow" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of eyebrow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypotrophic eyebrow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Lack of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Sparse or absent eyebrows" RELATED layperson [HPO:skoehler] synonym: "Sparse to absent eyebrows" RELATED layperson [HPO:skoehler] synonym: "Sparse/absent eyebrows" RELATED layperson [HPO:skoehler] @@ -134161,7 +134702,7 @@ id: HP:0100849 name: Neoplasm of the scrotum def: "A tumor (abnormal growth of tissue) of the scrotum." [HPO:probinson] synonym: "Neoplasia of the scrotum" EXACT [] -synonym: "Scrotum tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Scrotum tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:126905005 xref: UMLS:C0341790 is_a: HP:0000045 ! Abnormality of the scrotum @@ -134174,7 +134715,7 @@ id: HP:0100850 name: Neoplasm of the penis def: "A tumor (abnormal growth of tissue) of the penis." [HPO:probinson] synonym: "Neoplasia of the penis" EXACT [] -synonym: "Penis tumor" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Penis tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010412 xref: SNOMEDCT_US:126896003 xref: UMLS:C0030849 @@ -134219,7 +134760,7 @@ creation_date: 2011-11-30T09:41:44Z id: HP:0100854 name: Aplasia of the musculature def: "Absence of the musculature." [HPO:sdoelken] -synonym: "Absent musculature" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent musculature" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021955 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature created_by: doelkens @@ -134229,8 +134770,8 @@ creation_date: 2011-11-30T09:51:08Z id: HP:0100855 name: Triceps hypoplasia def: "Hypoplasia of the triceps muscle." [HPO:sdoelken] -synonym: "Small triceps" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Underdeveloped triceps" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Small triceps" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Underdeveloped triceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021954 is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps is_a: HP:0030239 ! Hypoplasia of the upper arm musculature @@ -134304,7 +134845,7 @@ creation_date: 2011-11-30T10:12:34Z [Term] id: HP:0100862 name: Aplasia of the femoral head -synonym: "Absent femoral head" EXACT [orcid.org/0000-0001-5208-3432] +synonym: "Absent femoral head" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021950 is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck created_by: doelkens @@ -134313,7 +134854,7 @@ creation_date: 2011-11-30T10:47:46Z [Term] id: HP:0100863 name: Aplasia of the femoral neck -synonym: "Absent neck of thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Absent neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021949 is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck created_by: doelkens @@ -134330,7 +134871,7 @@ subset: hposlim_core synonym: "Hypoplasia of the femoral neck" EXACT [] synonym: "Hypoplastic femoral neck" EXACT [] synonym: "Short femoral necks" EXACT [] -synonym: "Short neck of thighbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836184 is_a: HP:0003367 ! Abnormality of the femoral neck is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck @@ -134350,7 +134891,7 @@ creation_date: 2011-11-30T11:09:10Z [Term] id: HP:0100866 name: Short iliac bones -synonym: "Short pelvis bones" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Short pelvis bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849063 is_a: HP:0000946 ! Hypoplastic ilia created_by: doelkens @@ -134427,8 +134968,8 @@ id: HP:0100874 name: Thick hair def: "Increased density of hairs, i.e., and elevated number of hairs per unit area." [HPO:probinson] subset: hposlim_core -synonym: "Increased follicular density" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased hair density" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased follicular density" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased hair density" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick hair" EXACT layperson [] xref: UMLS:C4073184 is_a: HP:0011357 ! Abnormality of hair density @@ -134439,12 +134980,12 @@ creation_date: 2011-12-01T02:13:58Z id: HP:0100875 name: Hemimacroglossia def: "Increased length and width of one half of the tounge." [HPO:sdoelken] -synonym: "Hemiglossal hyperplasia" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hemiglossal hypertrophy" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of half of the tongue" BROAD [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of half of the tongue" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of half of the tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large half of tongue" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Hemiglossal hyperplasia" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hemiglossal hypertrophy" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of half of the tongue" BROAD [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of half of the tongue" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased size of half of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Large half of tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021947 xref: UMLS:C4280287 is_a: HP:0000158 ! Macroglossia @@ -134458,8 +134999,8 @@ alt_id: HP:0007796 def: "Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma." [pmid:19125427] comment: This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but should be coded separately. subset: hposlim_core -synonym: "Crease in skin under the eye" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Groove in skin under the eye" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Crease in skin under the eye" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Groove in skin under the eye" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Infraorbital crease" EXACT [] synonym: "Infraorbital creases" EXACT [] synonym: "Underorbital skin creases" EXACT [] @@ -134576,9 +135117,9 @@ creation_date: 2011-12-01T03:16:02Z id: HP:0100886 name: Abnormality of globe location def: "An abnormality in the placement of the ocular globe (eyeball)." [HPO:sdoelken] -synonym: "Abnormality of eyeball location" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of eyeball position" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of globe position" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of eyeball location" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of eyeball position" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of globe position" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021946 is_a: HP:0000315 ! Abnormality of the orbital region is_a: HP:0012374 ! Abnormal globe morphology @@ -134590,7 +135131,7 @@ id: HP:0100887 name: Abnormality of globe size alt_id: HP:0010725 def: "An abnormality in the size of the ocular globe (eyeball)." [HPO:sdoelken] -synonym: "Abnormality of eyeball size" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of eyeball size" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Eye size difference" EXACT layperson [] xref: UMLS:C4021945 is_a: HP:0000315 ! Abnormality of the orbital region @@ -134700,7 +135241,7 @@ creation_date: 2011-12-01T05:39:30Z id: HP:0100899 name: Sclerosis of finger phalanx def: "An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in the finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the hand" EXACT [] xref: UMLS:C4020941 is_a: HP:0004054 ! Sclerosis of hand bone @@ -134711,7 +135252,7 @@ creation_date: 2011-12-02T09:34:05Z [Term] id: HP:0100900 name: Sclerosis of the distal phalanx of the 2nd finger -synonym: "Increased bone density in the outermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021942 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx @@ -134719,7 +135260,7 @@ is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100901 name: Sclerosis of the distal phalanx of the 3rd finger -synonym: "Increased bone density in the outermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021941 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx @@ -134727,7 +135268,7 @@ is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100902 name: Sclerosis of the distal phalanx of the 4th finger -synonym: "Increased bone density in the outermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021940 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx @@ -134735,9 +135276,9 @@ is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100903 name: Sclerosis of the distal phalanx of the 5th finger -synonym: "Increased bone density in the outermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the outermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the outermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021939 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx @@ -134745,7 +135286,7 @@ is_a: HP:0100921 ! Sclerosis of 5th finger phalanx [Term] id: HP:0100904 name: Sclerosis of the middle phalanx of the 2nd finger -synonym: "Increased bone density in the middle bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021938 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx @@ -134753,7 +135294,7 @@ is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100905 name: Sclerosis of the middle phalanx of the 3rd finger -synonym: "Increased bone density in the middle bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021937 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx @@ -134761,7 +135302,7 @@ is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100906 name: Sclerosis of the middle phalanx of the 4th finger -synonym: "Increased bone density in the middle bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021936 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx @@ -134769,9 +135310,9 @@ is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100907 name: Sclerosis of the middle phalanx of the 5th finger -synonym: "Increased bone density in the middle bone of the little finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the middle bone of the pinkie finger" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the middle bone of the pinky finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021935 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx @@ -134779,7 +135320,7 @@ is_a: HP:0100921 ! Sclerosis of 5th finger phalanx [Term] id: HP:0100908 name: Sclerosis of the proximal phalanx of the 2nd finger -synonym: "Increased bone density in the innermost bone of the index finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021934 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx @@ -134787,7 +135328,7 @@ is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100909 name: Sclerosis of the proximal phalanx of the 3rd finger -synonym: "Increased bone density in innermost bone of the middle finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021933 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx @@ -134795,7 +135336,7 @@ is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100910 name: Sclerosis of the proximal phalanx of the 4th finger -synonym: "Increased bone density in the innermost bone of the ring finger" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021932 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx @@ -134803,9 +135344,9 @@ is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100911 name: Sclerosis of the proximal phalanx of the 5th finger -synonym: "Increased bone density in innermost little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in innermost pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in innermost pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021931 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx @@ -134815,7 +135356,7 @@ id: HP:0100912 name: Sclerosis of the distal phalanx of the thumb def: "An elevation of bone density in the distal phalanx of the thumb." [HPO:probinson] comment: Sclerosis can be identified on a radiograph as an area of increased opacity. -synonym: "Increased bone density in the outermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021930 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx @@ -134824,7 +135365,7 @@ is_a: HP:0100922 ! Sclerosis of thumb phalanx id: HP:0100913 name: Sclerosis of the proximal phalanx of the thumb def: "An elevation of bone density in the proximal phalanx of the thumb." [HPO:probinson] -synonym: "Increased bone density in the innermost bone of the thumb" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021929 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx @@ -134832,7 +135373,7 @@ is_a: HP:0100922 ! Sclerosis of thumb phalanx [Term] id: HP:0100914 name: Sclerosis of the 1st metacarpal -synonym: "Increased bone density in 1st long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021928 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx @@ -134840,7 +135381,7 @@ is_a: HP:0100917 ! Sclerosis of proximal finger phalanx id: HP:0100915 name: Sclerosis of distal finger phalanx def: "An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in outermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the distal phalanges of the hand" EXACT [] xref: UMLS:C4020940 is_a: HP:0009832 ! Abnormality of the distal phalanx of finger @@ -134850,7 +135391,7 @@ is_a: HP:0100899 ! Sclerosis of finger phalanx id: HP:0100916 name: Sclerosis of middle finger phalanx def: "An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in middle finger bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in middle finger bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the middle phalanges of the hand" EXACT [] xref: UMLS:C4020939 is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand @@ -134860,7 +135401,7 @@ is_a: HP:0100899 ! Sclerosis of finger phalanx id: HP:0100917 name: Sclerosis of proximal finger phalanx def: "An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in innermost finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the proximal phalanges of the hand" EXACT [] xref: UMLS:C4020938 is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand @@ -134870,7 +135411,7 @@ is_a: HP:0100899 ! Sclerosis of finger phalanx id: HP:0100918 name: Sclerosis of 2nd finger phalanx def: "An elevation in bone density in one or more distal phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in 2nd finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in 2nd finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 2nd finger" EXACT [] xref: UMLS:C4020937 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger @@ -134880,7 +135421,7 @@ is_a: HP:0100899 ! Sclerosis of finger phalanx id: HP:0100919 name: Sclerosis of 3rd finger phalanx def: "An elevation in bone density in one or more distal phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in middle finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 3rd finger" EXACT [] xref: UMLS:C4020936 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger @@ -134890,7 +135431,7 @@ is_a: HP:0100899 ! Sclerosis of finger phalanx id: HP:0100920 name: Sclerosis of 4th finger phalanx def: "An elevation in bone density in one or more distal phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in ring finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 4th finger" EXACT [] xref: UMLS:C4020935 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger @@ -134900,9 +135441,9 @@ is_a: HP:0100899 ! Sclerosis of finger phalanx id: HP:0100921 name: Sclerosis of 5th finger phalanx def: "An elevation in bone density in one or more distal phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in little finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in pinkie finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in pinky finger bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 5th finger" EXACT [] xref: UMLS:C4020934 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger @@ -134911,7 +135452,7 @@ is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100922 name: Sclerosis of thumb phalanx -synonym: "Increased bone density in thumb bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the thumb" EXACT [] xref: UMLS:C4020933 is_a: HP:0009602 ! Abnormality of thumb phalanx @@ -134922,7 +135463,7 @@ id: HP:0100923 name: Clavicular sclerosis alt_id: HP:0006648 def: "An increase in bone density within the clavicle." [HPO:probinson] -synonym: "Increased bone density in collarbone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Osteosclerosis of the clavicle" EXACT [] synonym: "Osteosclerosis of the clavicles" RELATED [HPO:skoehler] xref: UMLS:C3554669 @@ -134935,7 +135476,7 @@ creation_date: 2011-12-02T10:28:41Z id: HP:0100924 name: Sclerosis of toe phalanx def: "An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in the toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the toes" EXACT [] xref: UMLS:C4020932 is_a: HP:0010161 ! Abnormality of the phalanges of the toes @@ -134947,7 +135488,7 @@ creation_date: 2011-12-02T11:08:43Z id: HP:0100925 name: Sclerosis of foot bone def: "An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in foot bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in foot bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of bones of the feet" EXACT [] xref: UMLS:C4020931 is_a: HP:0011001 ! Increased bone mineral density @@ -134958,7 +135499,7 @@ creation_date: 2011-12-02T11:12:32Z id: HP:0100926 name: Sclerosis of 2nd toe phalanx def: "An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in 2nd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 2nd toe" EXACT [] xref: UMLS:C4020930 is_a: HP:0100924 ! Sclerosis of toe phalanx @@ -134967,7 +135508,7 @@ is_a: HP:0100924 ! Sclerosis of toe phalanx id: HP:0100927 name: Sclerosis of 3rd toe phalanx def: "An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in 3rd toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 3rd toe" EXACT [] xref: UMLS:C4020929 is_a: HP:0100924 ! Sclerosis of toe phalanx @@ -134976,7 +135517,7 @@ is_a: HP:0100924 ! Sclerosis of toe phalanx id: HP:0100928 name: Sclerosis of 4th toe phalanx def: "An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in 4th toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 4th toe" EXACT [] xref: UMLS:C4020928 is_a: HP:0100924 ! Sclerosis of toe phalanx @@ -134985,9 +135526,9 @@ is_a: HP:0100924 ! Sclerosis of toe phalanx id: HP:0100929 name: Sclerosis of 5th toe phalanx def: "An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in little toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in pinkie toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in pinky toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 5th toe" EXACT [] xref: UMLS:C4020927 is_a: HP:0100924 ! Sclerosis of toe phalanx @@ -134996,7 +135537,7 @@ is_a: HP:0100924 ! Sclerosis of toe phalanx id: HP:0100930 name: Sclerosis of hallux phalanx def: "An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in big toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the hallux" EXACT [] xref: UMLS:C4020926 is_a: HP:0100924 ! Sclerosis of toe phalanx @@ -135005,7 +135546,7 @@ is_a: HP:0100924 ! Sclerosis of toe phalanx id: HP:0100931 name: Sclerosis of the proximal phalanx of the 2nd toe def: "An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in the innermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021927 is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx @@ -135014,7 +135555,7 @@ is_a: HP:0100946 ! Sclerosis of proximal toe phalanx id: HP:0100932 name: Sclerosis of the proximal phalanx of the 3rd toe def: "An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in the innermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021926 is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx @@ -135022,7 +135563,7 @@ is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100933 name: Sclerosis of the proximal phalanx of the 4th toe -synonym: "Increased bone density in the innermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021925 is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx @@ -135030,9 +135571,9 @@ is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100934 name: Sclerosis of the proximal phalanx of the 5th toe -synonym: "Increased bone density in the innermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the innermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the innermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021924 is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx @@ -135040,7 +135581,7 @@ is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100935 name: Sclerosis of the middle phalanx of the 2nd toe -synonym: "Increased bone density in the middle bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021923 is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx @@ -135049,7 +135590,7 @@ is_a: HP:0100947 ! Sclerosis of middle toe phalanx id: HP:0100936 name: Sclerosis of the middle phalanx of the 3rd toe def: "An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in the middle bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021922 is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx @@ -135057,7 +135598,7 @@ is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100937 name: Sclerosis of the middle phalanx of the 4th toe -synonym: "Increased bone density in the middle bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021921 is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx @@ -135065,9 +135606,9 @@ is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100938 name: Sclerosis of the middle phalanx of the 5th toe -synonym: "Increased bone density in the middle bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the middle bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the middle bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021920 is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx @@ -135075,7 +135616,7 @@ is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100939 name: Sclerosis of the distal phalanx of the 2nd toe -synonym: "Increased bone density in the outermost bone of the 2nd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021919 is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx @@ -135085,7 +135626,7 @@ is_a: HP:0100948 ! Sclerosis of distal toe phalanx id: HP:0100940 name: Sclerosis of the distal phalanx of the 3rd toe def: "An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in the outermost bone of the 3rd toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021918 is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx @@ -135093,7 +135634,7 @@ is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100941 name: Sclerosis of the distal phalanx of the 4th toe -synonym: "Increased bone density in the outermost bone of the 4th toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021917 is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx @@ -135101,9 +135642,9 @@ is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100942 name: Sclerosis of the distal phalanx of the 5th toe -synonym: "Increased bone density in the outermost bone of the little toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the outermost bone of the pinkie toe" EXACT layperson [orcid.org/0000-0001-5208-3432] -synonym: "Increased bone density in the outermost bone of the pinky toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021916 is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx @@ -135111,7 +135652,7 @@ is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100943 name: Sclerosis of the proximal phalanx of the hallux -synonym: "Increased bone density in the innermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021915 is_a: HP:0100930 ! Sclerosis of hallux phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx @@ -135119,7 +135660,7 @@ is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100944 name: Sclerosis of the distal phalanx of the hallux -synonym: "Increased bone density in the outermost bone of the big toe" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021914 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0100930 ! Sclerosis of hallux phalanx @@ -135128,7 +135669,7 @@ is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100945 name: Sclerosis of the 1st metatarsal -synonym: "Increased bone density in the 1st long bone of foot" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021913 is_a: HP:0100930 ! Sclerosis of hallux phalanx @@ -135136,7 +135677,7 @@ is_a: HP:0100930 ! Sclerosis of hallux phalanx id: HP:0100946 name: Sclerosis of proximal toe phalanx def: "An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in innermost toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4020925 is_a: HP:0010184 ! Abnormality of toe proximal phalanx @@ -135146,7 +135687,7 @@ is_a: HP:0100924 ! Sclerosis of toe phalanx id: HP:0100947 name: Sclerosis of middle toe phalanx def: "An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in middle toe bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in middle toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the middle phalanges of the toes" EXACT [] xref: UMLS:C4020924 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes @@ -135156,7 +135697,7 @@ is_a: HP:0100924 ! Sclerosis of toe phalanx id: HP:0100948 name: Sclerosis of distal toe phalanx def: "An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] -synonym: "Increased bone density in the outermost bone of the toes" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Increased bone density in the outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the distal phalanges of the toes" EXACT [] xref: UMLS:C4020923 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes @@ -135326,7 +135867,7 @@ id: HP:0200003 name: Splayed epiphyses alt_id: HP:0004978 def: "Flaring (widening) of the epiphysis." [HPO:probinson] -synonym: "Splayed end part of bone" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Splayed end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021906 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sebastiankohler @@ -135337,8 +135878,8 @@ id: HP:0200005 name: Abnormal shape of the palpebral fissure def: "The presence of an abnormal shape of the palpebral fissure." [HPO:probinson] subset: hposlim_core -synonym: "Abnormal morphology of the palpebral fissure" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal shape of the opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal morphology of the palpebral fissure" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormal shape of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021905 is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler @@ -135347,7 +135888,7 @@ creation_date: 2010-06-09T07:56:37Z [Term] id: HP:0200006 name: Slanting of the palpebral fissure -synonym: "Slanting of the opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2748932 is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler @@ -135357,8 +135898,8 @@ creation_date: 2010-06-09T07:57:10Z id: HP:0200007 name: Abnormal size of the palpebral fissures def: "An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures." [HPO:sdoelken] -synonym: "Abnormal size of the eyes" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal size of the opening between the eyelids" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormal size of the eyes" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormal size of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021904 xref: UMLS:C4280286 is_a: HP:0008050 ! Abnormality of the palpebral fissures @@ -135398,7 +135939,7 @@ creation_date: 2010-06-09T11:52:21Z id: HP:0200013 name: Neoplasm of fatty tissue def: "A tumor (abnormal growth of tissue) of adipose tissue." [HPO:sdoelken] -synonym: "Tumor of fatty tissue" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Tumor of fatty tissue" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021901 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011793 ! Neoplasm by anatomical site @@ -135443,7 +135984,7 @@ alt_id: HP:0200019 def: "A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green." [HPO:probinson] comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. synonym: "Colorblindness, partial, protan series" EXACT [] -synonym: "Red-weak" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Red-weak" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003117 xref: SNOMEDCT_US:51445007 xref: UMLS:C0155015 @@ -135518,7 +136059,7 @@ creation_date: 2010-06-16T05:13:30Z id: HP:0200025 name: Mandibular pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible." [] -synonym: "Lower jaw pain" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Lower jaw pain" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:274667000 xref: UMLS:C0236000 is_a: HP:0000277 ! Abnormality of the mandible @@ -135530,7 +136071,7 @@ creation_date: 2010-06-16T07:33:14Z id: HP:0200026 name: Ocular pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye." [] -synonym: "Eye pain" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eye pain" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D058447 xref: SNOMEDCT_US:41652007 xref: UMLS:C0151827 @@ -135543,7 +136084,7 @@ creation_date: 2010-06-16T07:39:04Z id: HP:0200028 name: Pretibial myxedema def: "A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet." [HPO:skoehler] -synonym: "Graves dermopathy" EXACT [orcid.org/0000-0001-6908-9849] +synonym: "Graves dermopathy" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:237825005 xref: SNOMEDCT_US:78146007 xref: UMLS:C0033103 @@ -135625,7 +136166,7 @@ creation_date: 2010-06-18T01:48:50Z id: HP:0200037 name: Skin vesicle def: "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] -synonym: "Blister" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Blister" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3814530 is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler @@ -135636,7 +136177,7 @@ id: HP:0200039 name: Pustule def: "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:skoehler] subset: hposlim_core -synonym: "Pimple" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Pimple" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Pustula" EXACT [] synonym: "Pustules" EXACT [HPO:skoehler] synonym: "Skin pustule" EXACT [] @@ -135770,7 +136311,7 @@ created_by: koehlers [Term] id: HP:0200050 name: Bracket metacarpal epiphyses -synonym: "Bracket shaped end part of long bone of hand" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Bracket shaped end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021897 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: koehlers @@ -135866,6 +136407,7 @@ creation_date: 2013-05-31T01:19:31Z [Term] id: HP:0200064 name: Asymmetry of iris pigmentation +def: "Asymmetry between the two irides or asymmetry between different parts of one iris." [ORCID:0000-0003-0986-4123] xref: MSH:C538115 xref: SNOMEDCT_US:247033008 xref: UMLS:C0423318 @@ -135915,7 +136457,7 @@ creation_date: 2013-05-31T01:36:51Z [Term] id: HP:0200070 name: Peripheral retinal atrophy -synonym: "Wasting of the outer part of the retina" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Wasting of the outer part of the retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3553016 is_a: HP:0001105 ! Retinal atrophy created_by: sebastiankohler @@ -135977,7 +136519,7 @@ creation_date: 2013-06-04T02:32:26Z [Term] id: HP:0200085 name: Limb tremor -synonym: "Involuntary shaking of limb" EXACT layperson [http://orcid.org/0000-0001-6908-9849] +synonym: "Involuntary shaking of limb" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Limb tremor" EXACT layperson [] synonym: "Tremor of limbs" RELATED layperson [HPO:skoehler] xref: MSH:D014202 @@ -136018,9 +136560,9 @@ creation_date: 2013-06-04T03:06:03Z id: HP:0200097 name: Oral mucosal blisters def: "Blisters arising in the mouth." [HPO:probinson] -synonym: "Blebs of oral mucosa" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Blisters of mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Bullae of oral mucosa" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Blebs of oral mucosa" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Blisters of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Bullae of oral mucosa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral mucosa blisters" RELATED [HPO:skoehler] synonym: "Oral mucosal blisters" EXACT layperson [] xref: UMLS:C0853945 @@ -136034,7 +136576,7 @@ id: HP:0200098 name: Absent skin pigmentation def: "Lack of skin pigmentation (coloring)." [HPO:probinson] synonym: "Absent skin pigmentation" EXACT layperson [] -synonym: "Lack of skin coloration" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Lack of skin coloration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2673954 is_a: HP:0001010 ! Hypopigmentation of the skin created_by: sebastiankohler @@ -136086,7 +136628,7 @@ creation_date: 2013-06-05T12:11:16Z id: HP:0200105 name: Absent fifth toenail synonym: "Absent fifth toenail" EXACT layperson [] -synonym: "Missing fifth toenail" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Missing fifth toenail" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021892 is_a: HP:0001802 ! Absent toenail created_by: sebastiankohler @@ -136187,7 +136729,7 @@ creation_date: 2013-06-11T11:04:49Z id: HP:0200119 name: Acute hepatitis def: "Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver." [https://www.healthline.com/health/acute-hepatitis-c#acute-vs-chronic] -synonym: "Acute liver inflammation" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Acute liver inflammation" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:37871000 xref: UMLS:C0267797 is_a: HP:0012115 ! Hepatitis @@ -136209,7 +136751,7 @@ creation_date: 2013-06-11T11:17:25Z [Term] id: HP:0200122 name: Atypical or prolonged hepatitis -synonym: "Atypical or prolonged liver inflammation" EXACT layperson [orcid.org/0000-0001-6908-9849] +synonym: "Atypical or prolonged liver inflammation" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1848456 is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler @@ -136219,7 +136761,7 @@ creation_date: 2013-06-11T11:20:29Z id: HP:0200123 name: Chronic hepatitis def: "Hepatitis that lasts for more than six months." [https://patient.info/doctor/chronic-hepatitis] -synonym: "Chronic liver inflammation" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Chronic liver inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006521 xref: SNOMEDCT_US:76783007 xref: UMLS:C0019189 @@ -136248,8 +136790,7 @@ creation_date: 2013-06-11T11:22:52Z id: HP:0200126 name: obsolete Amyloid cardiomyopathy is_obsolete: true -created_by: sebastiankohler -creation_date: 2013-06-11T11:25:53Z +replaced_by: HP:0030843 [Term] id: HP:0200127 @@ -136273,6 +136814,7 @@ creation_date: 2013-06-11T11:28:46Z id: HP:0200129 name: obsolete Calcific mitral stenosis is_obsolete: true +consider: HP:0001718 [Term] id: HP:0200133 @@ -136294,15 +136836,13 @@ creation_date: 2013-06-11T04:02:30Z id: HP:0200135 name: obsolete Macrocephaly due to hydrocephalus is_obsolete: true -created_by: sebastiankohler -creation_date: 2013-06-12T10:58:49Z [Term] id: HP:0200136 name: Oral-pharyngeal dysphagia -synonym: "Difficulty swallowing" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Oral pharyngeal dysphagia" EXACT [orcid.org/0000-0001-5208-3432] -synonym: "Oropharyngeal dysphagia" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Difficulty swallowing" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Oral pharyngeal dysphagia" EXACT [ORCID:0000-0001-5208-3432] +synonym: "Oropharyngeal dysphagia" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D003680 xref: SNOMEDCT_US:71457002 xref: UMLS:C0267071 @@ -136323,10 +136863,10 @@ creation_date: 2013-06-12T11:08:52Z [Term] id: HP:0200141 name: Small, conical teeth -synonym: "Conical microdontia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Small, cone shaped teeth" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small, peg shaped teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small, pointed teeth" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Conical microdontia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Small, cone shaped teeth" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Small, peg shaped teeth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Small, pointed teeth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1851883 xref: UMLS:C4280284 xref: UMLS:C4280285 @@ -136349,8 +136889,7 @@ creation_date: 2013-06-13T12:44:34Z id: HP:0200144 name: obsolete Anaphylactoid purpura is_obsolete: true -created_by: sebastiankohler -creation_date: 2013-06-13T12:53:00Z +consider: HP:0000979 [Term] id: HP:0200146 @@ -136410,7 +136949,7 @@ creation_date: 2013-06-13T01:05:40Z [Term] id: HP:0200151 name: Cutaneous mastocytosis -def: "Multifocal dense infiltrates of mast cells in cutaneous tissue." [] {comment="HPO:probinson", comment="PMID:21668033"} +def: "Multifocal dense infiltrates of mast cells in cutaneous tissue." [HPO:probinson, PMID:21668033] xref: MSH:D034701 xref: SNOMEDCT_US:397012002 xref: SNOMEDCT_US:703827008 @@ -136423,9 +136962,9 @@ creation_date: 2013-06-14T09:22:02Z [Term] id: HP:0200153 name: Agenesis of lateral incisor -synonym: "Absence of lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing lateral incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021881 xref: UMLS:C4227831 is_a: HP:0006485 ! Agenesis of incisor @@ -136433,11 +136972,11 @@ is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0200154 name: Agenesis of mandibular lateral incisor -synonym: "Absence of lower lateral incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of mandibular lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower lateral incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of lower lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing lower lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4021880 xref: UMLS:C4280283 is_a: HP:0200153 ! Agenesis of lateral incisor @@ -136446,11 +136985,11 @@ is_a: HP:0200161 ! Agenesis of mandibular incisor [Term] id: HP:0200158 name: Agenesis of permanent mandibular lateral incisor -synonym: "Absence of adult mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of permanent mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of permanent mandibular lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing adult lower lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing permanent mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of adult mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of permanent mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of permanent mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing adult lower lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing permanent mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4021879 xref: UMLS:C4280282 is_a: HP:0200154 ! Agenesis of mandibular lateral incisor @@ -136458,14 +136997,14 @@ is_a: HP:0200154 ! Agenesis of mandibular lateral incisor [Term] id: HP:0200159 name: Agenesis of primary mandibular lateral incisor -synonym: "Absence of deciduous mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of lower front baby tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of primary mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of deciduous mandibular lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of deciduous mandibular lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of primary mandibular lateral incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing deciduous mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Missing primary mandibular lateral incisor" RELATED [orcid.org/0000-0001-5889-4463] +synonym: "Absence of deciduous mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of lower front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of primary mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of deciduous mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of deciduous mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of primary mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing deciduous mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Missing primary mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4021878 xref: UMLS:C4280280 xref: UMLS:C4280281 @@ -136474,12 +137013,12 @@ is_a: HP:0200154 ! Agenesis of mandibular lateral incisor [Term] id: HP:0200160 name: Agenesis of maxillary incisor -synonym: "Absence of maxillary incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of upper front tooth" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of maxillary incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of upper incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing upper incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of maxillary incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of upper front tooth" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of maxillary incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of upper incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing upper incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021877 xref: UMLS:C4280278 xref: UMLS:C4280279 @@ -136488,13 +137027,13 @@ is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0200161 name: Agenesis of mandibular incisor -synonym: "Absence of lower front tooth" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of lower incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Absence of mandibular incisor" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Agenesis of lower incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Failure of development of mandibular incisor" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower front tooth" RELATED layperson [orcid.org/0000-0001-5889-4463] -synonym: "Missing lower incisor" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Absence of lower front tooth" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of lower incisor" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Absence of mandibular incisor" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Agenesis of lower incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Failure of development of mandibular incisor" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Missing lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] +synonym: "Missing lower incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3150012 xref: UMLS:C4021876 xref: UMLS:C4280277 @@ -136504,13 +137043,13 @@ is_a: HP:0006485 ! Agenesis of incisor id: HP:0400000 name: Tall chin def: "Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin." [eom:96d8ca16a3c80216, pmid:19125436] -synonym: "Increased height of chin" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased height of menton region" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Long chin" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Long lower third of face" RELATED layperson [orcid.org/0000-0001-5889-4463] +synonym: "Increased height of chin" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased height of menton region" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Long chin" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Long lower third of face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Tall chin" EXACT layperson [] -synonym: "Vertical excess of chin" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical hyperplasia of chin" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Vertical excess of chin" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical hyperplasia of chin" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:471397004 xref: UMLS:C3532221 xref: UMLS:C4021875 @@ -136522,13 +137061,13 @@ name: Chin with vertical crease def: "Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest." [eom:8a5493c72e0dd13c, pmid:19125436] comment: The vertical shape must be distinguished from H-shaped crease of the chin. synonym: "Chin with vertical crease" EXACT layperson [] -synonym: "Chin with vertical furrow" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Chin with vertical groove" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Chin with vertical sulcus" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Chin with vertical furrow" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Chin with vertical groove" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Chin with vertical sulcus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Chin, vertical crease" EXACT [] synonym: "Cleft chin" EXACT layperson [] -synonym: "Vertical chin skin cleft" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Vertical menton crease" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Vertical chin skin cleft" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Vertical menton crease" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4020916 is_a: HP:0000306 ! Abnormality of the chin @@ -136589,7 +137128,7 @@ is_a: HP:0000140 ! Abnormality of the menstrual cycle id: HP:0410000 name: Abnormality of vomer def: "An abnormality of the vomer." [GOC:NV] -synonym: "Abnormality of vomer bone" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of vomer bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Defect of vomer" EXACT [] xref: UMLS:C4020914 is_a: HP:0011821 ! Abnormality of facial skeleton @@ -136597,9 +137136,9 @@ is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0410003 name: Cleft primary palate -synonym: "Cleft alveolar process of maxilla" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Cleft anterior maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Cleft maxillary alveolus" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Cleft alveolar process of maxilla" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Cleft anterior maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Cleft maxillary alveolus" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109546001 xref: UMLS:C0432084 xref: UMLS:C4280276 @@ -136608,7 +137147,7 @@ is_a: HP:0000175 ! Cleft palate [Term] id: HP:0410004 name: Cleft secondary palate -synonym: "Cleft roof of mouth" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Cleft roof of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:63567004 xref: UMLS:C2981150 is_a: HP:0000175 ! Cleft palate @@ -136616,8 +137155,8 @@ is_a: HP:0000175 ! Cleft palate [Term] id: HP:0410005 name: Cleft hard palate -synonym: "Cleft bony palate" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Cleft of hard palate" EXACT [http://orcid.org/0000-0001-5889-4463] {comment="http://orcid.org/0000-0001-5208-3432"} +synonym: "Cleft bony palate" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Cleft of hard palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:448915004 xref: UMLS:C0432090 is_a: HP:0410004 ! Cleft secondary palate @@ -136625,23 +137164,23 @@ is_a: HP:0410004 ! Cleft secondary palate [Term] id: HP:0410006 name: Abnormality of ophthalmic artery -def: "Abnormality of the first branch of the internal carotid artery." [orcid.org/0000-0001-5889-4463] +def: "Abnormality of the first branch of the internal carotid artery." [ORCID:0000-0001-5889-4463] comment: The ophthalmic artery (OA) is the first branch of the internal carotid artery distal to the cavernous sinus. Branches of the OA supply all the structures in the orbit as well as some structures in the nose, face and meninges. -synonym: "Ophthalmic artery anomaly" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Ophthalmic artery anomaly" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073185 is_a: HP:3000062 ! Abnormal internal carotid artery morphology [Term] id: HP:0410007 name: Abnormality of cartilage morphology -def: "Any abnormality of cartilage." [orcid.org/0000-0001-5208-3432] +def: "Any abnormality of cartilage." [ORCID:0000-0001-5208-3432] xref: UMLS:C4073186 is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0410008 name: Abnormality of the peripheral nervous system -def: "Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord." [orcid.org/0000-0001-5889-4463] +def: "Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the peripheral nervous system" EXACT layperson [] xref: UMLS:C4073187 is_a: HP:0000707 ! Abnormality of the nervous system @@ -136649,7 +137188,7 @@ is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0410009 name: Abnormality of the somatic nervous system -def: "Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements." [orcid.org/0000-0001-5889-4463] +def: "Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements." [ORCID:0000-0001-5889-4463] comment: The SoNS consists of afferent and efferent nerves. Afferent nerves are responsible for relaying sensation to the central nervous system; efferent nerves are responsible for stimulating muscle contraction, including all the non-sensory neurons connected with skeletal muscles and skin. xref: UMLS:C4073188 is_a: HP:0410008 ! Abnormality of the peripheral nervous system @@ -136657,14 +137196,14 @@ is_a: HP:0410008 ! Abnormality of the peripheral nervous system [Term] id: HP:0410010 name: Abnormality of somatic nerve plexus -def: "Any abnormality of the somatic nerve plexus." [orcid.org/0000-0001-5889-4463] +def: "Any abnormality of the somatic nerve plexus." [ORCID:0000-0001-5889-4463] xref: UMLS:C4073189 is_a: HP:0410009 ! Abnormality of the somatic nervous system [Term] id: HP:0410011 name: Abnormality of masticatory muscle -def: "Any abnormality of the masticatory muscle." [orcid.org/0000-0001-5208-3432] +def: "Any abnormality of the masticatory muscle." [ORCID:0000-0001-5208-3432] synonym: "Abnormality of muscles of mastication" EXACT [] xref: UMLS:C4073190 is_a: HP:0045037 ! Abnormality of jaw muscles @@ -136672,7 +137211,7 @@ is_a: HP:0045037 ! Abnormality of jaw muscles [Term] id: HP:0410012 name: Abnormality of the mouth floor -def: "Any abnormality of the mouth floor." [orcid.org/0000-0001-5208-3432] +def: "Any abnormality of the mouth floor." [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the floor of mouth" EXACT layperson [] synonym: "Abnormality of the mouth floor" EXACT layperson [] xref: UMLS:C4073191 @@ -136681,42 +137220,42 @@ is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0410013 name: Abnormality of the submandibular region -def: "Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery." [https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html, orcid.org/0000-0001-5208-3432] +def: "Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery." [https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html, ORCID:0000-0001-5208-3432] xref: UMLS:C4073192 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0410014 name: Abnormality of ganglion -def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, orcid.org/0000-0001-5889-4463] +def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] xref: UMLS:C4073193 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0410015 name: Abnormality of ganglion of peripheral nervous system -def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, orcid.org/0000-0001-5889-4463] +def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] xref: UMLS:C4073194 is_a: HP:0410014 ! Abnormality of ganglion [Term] id: HP:0410016 name: Abnormality of cranial ganglion -def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium." [https://en.wikipedia.org/wiki/Ganglion, orcid.org/0000-0001-5889-4463] +def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] xref: UMLS:C4073195 is_a: HP:0410014 ! Abnormality of ganglion [Term] id: HP:0410017 name: Otitis externa -def: "Inflammation or infection of the external auditory canal (EAC), the auricle, or both." [http://search.medscape.com/search/?q=otitis%20externa, orcid.org/0000-0001-5208-3432] +def: "Inflammation or infection of the external auditory canal (EAC), the auricle, or both." [http://search.medscape.com/search/?q=otitis%20externa, ORCID:0000-0001-5208-3432] synonym: "Swimmer's ear" EXACT layperson [] is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0410018 name: Recurrent ear infections -def: "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections." [orcid.org/0000-0001-5208-3432] +def: "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections." [ORCID:0000-0001-5208-3432] synonym: "Frequent ear infections" EXACT layperson [] synonym: "Recurrent ear infections" EXACT layperson [] is_a: HP:0002719 ! Recurrent infections @@ -136724,7 +137263,7 @@ is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0410019 name: Epigastric pain -def: "Pain that is localized to the region of the upper abdomen immediately below the ribs." [https://www.healthgrades.com/symptoms/epigastric-pain, orcid.org/0000-0001-5208-3432] +def: "Pain that is localized to the region of the upper abdomen immediately below the ribs." [https://www.healthgrades.com/symptoms/epigastric-pain, ORCID:0000-0001-5208-3432] synonym: "Epigastrium pain" EXACT [] is_a: HP:0012531 ! Pain @@ -136759,14 +137298,14 @@ def: "An anomalous amount or location of cell junction proteins such as plakoglo comment: Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy. is_a: HP:0031476 ! Abnormal buccal mucosa cell morphology is_a: HP:3000019 ! Abnormality of buccal mucosa -created_by: orcid.org/0000-0001-5208-3432 +created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410026 name: Abnormality of the periodontium def: "Any abnormality of the periodontium." [] is_a: HP:0000164 ! Abnormality of the dentition -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:40:50Z xsd:dateTime [Term] @@ -136775,7 +137314,7 @@ name: Alveolar bone loss around teeth def: "A decrease in the amount of alveolar bone around the root of a tooth." [] synonym: "Bone loss around teeth" EXACT [] is_a: HP:0410026 ! Abnormality of the periodontium -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:41:41Z xsd:dateTime [Term] @@ -136784,17 +137323,17 @@ name: Oral herpes def: "Blisters or ulcers on the gums, lips and/or tongue caused by herpes virus." [] synonym: "Oral varicella" EXACT [] is_a: HP:0005353 ! Susceptibility to herpesvirus -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:46:19Z xsd:dateTime [Term] id: HP:0410030 name: Cleft lip def: "A gap in the lip or lips." [] -synonym: "Cleft lip" EXACT [] {synonymtypedef="layperson"} +synonym: "Cleft lip" EXACT layperson [] synonym: "Cleft of the lip" EXACT [] is_a: HP:0000202 ! Oral cleft -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T22:17:35Z xsd:dateTime [Term] @@ -136802,7 +137341,7 @@ id: HP:0410031 name: Submucous cleft of soft and hard palate def: "Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth." [http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/] is_a: HP:0000175 ! Cleft palate -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:09:33Z xsd:dateTime [Term] @@ -136810,7 +137349,7 @@ id: HP:0410032 name: Cleft of uvula def: "A split or cleft in the uvula resulting from incomplete fusion of the palatine shelves." [https://en.wikipedia.org/wiki/Palatine_uvula] is_a: HP:0000185 ! Cleft soft palate -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:30:00Z xsd:dateTime [Term] @@ -136818,7 +137357,7 @@ id: HP:0410033 name: Unilateral alveolar cleft of maxilla def: "One sided alveolar cleft of the maxilla." [] is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:37:01Z xsd:dateTime [Term] @@ -136826,7 +137365,7 @@ id: HP:0410034 name: Bilateral alveolar cleft of maxilla def: "Nonmidline avleolar cleft of the maxilla." [] is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:37:09Z xsd:dateTime [Term] @@ -136837,45 +137376,340 @@ synonym: "Abnormal T lymphocyte activation" EXACT [] synonym: "Abnormal T-cell activation" EXACT [] synonym: "Abnormal T-lymphocyte activation" EXACT [] is_a: HP:0011840 ! Abnormality of T cell physiology -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-22T19:07:54Z xsd:dateTime [Term] id: HP:0410042 name: Abnormal liver morphology def: "Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage." [MP:0000598] +xref: Fyler:4447 is_a: HP:0001392 ! Abnormality of the liver -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-20T00:22:53Z xsd:dateTime [Term] id: HP:0410043 name: Abnormal neural tube morphology def: "Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)." [MP:0002151] +xref: Fyler:4339 is_a: HP:0002011 ! Morphological abnormality of the central nervous system -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-09-20T00:25:37Z xsd:dateTime [Term] id: HP:0410049 name: Abnormality of radial ray -comment: An abnormality of the radial ray; the thumb bones and 1st meta carpel. {xref="orcid.org/0000-0002-9353-5498"} +comment: An abnormality of the radial ray; the thumb bones and 1st meta carpel. {xref="ORCID:0000-0002-9353-5498"} synonym: "Deformity of radial ray" EXACT [] synonym: "Radial ray abnormality" EXACT [] synonym: "Radial ray anomaly" EXACT [] synonym: "Radial ray deformity" EXACT [] is_a: HP:0002813 ! Abnormality of limb bone morphology -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-10-16T20:21:52Z xsd:dateTime +[Term] +id: HP:0410050 +name: Decreased level of 1,5 anhydroglucitol in serum +def: "A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues." [PMID:16731998, PMID:17659063, PMID:9357814] +synonym: "Decreased level of 1,5-AG in serum" EXACT [http://www.hmdb.ca/metabolites/HMDB0002712] +synonym: "Decreased level of 1,5-anhydro-D-glucitol in serum" EXACT [] +synonym: "Decreased level of 1,5-anhydroglucitol in serum" EXACT [http://www.hmdb.ca/metabolites/HMDB0002712] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T00:26:24Z xsd:dateTime + +[Term] +id: HP:0410051 +name: Increased level of 3-hydroxy-3-methylglutaric acid in urine +synonym: "An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine." EXACT [PMID:15505778, PMID:23705938] +is_a: HP:0003215 ! Dicarboxylic aciduria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:26:32Z xsd:dateTime + +[Term] +id: HP:0410052 +name: Increased level of allantoin in serum +def: "An increase in the level of allantoin in the serum." [PMID:18636793] +is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:42:36Z xsd:dateTime + +[Term] +id: HP:0410053 +name: Increased level of GABA in serum +def: "An increase in the level of GABA in the serum." [PMID:1485027] +synonym: "Increased level of gamma-aminobutyric acid in serum" EXACT [] +is_a: HP:0003112 ! Abnormality of serum amino acid levels +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:56:05Z xsd:dateTime + +[Term] +id: HP:0410054 +name: Decreased level of GABA in serum +def: "A decrease in the level of GABA in the serum." [PMID:1485027] +synonym: "Decreased level of gamma-aminobutyric acid in serum" EXACT [] +is_a: HP:0003112 ! Abnormality of serum amino acid levels +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:56:12Z xsd:dateTime + +[Term] +id: HP:0410055 +name: Decreased level of erythritol in urine +def: "A decrease in the level of erythritol in the urine." [PMID:14988808] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:15:00Z xsd:dateTime + +[Term] +id: HP:0410056 +name: Decreased level of erythritol in CSF +def: "A decrease in the level of erythritol in the cerebrospinal fluid." [PMID:14988808] +synonym: "Decreased level of erythritol in cerebrospinal fluid" EXACT [] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +is_a: HP:0025454 ! Abnormal CSF metabolite level +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:15:08Z xsd:dateTime + +[Term] +id: HP:0410057 +name: Increased level of D-threitol in plasma +def: "An increase in the level of D-threitol in the plasma." [PMID:14988808] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:34Z xsd:dateTime + +[Term] +id: HP:0410058 +name: Increased level of D-threitol in CSF +def: "An increase in the level of D-threitol in the cerebrospinal fluid." [PMID:14988808] +synonym: "Increased level of D-threitol in cerebrospinal fluid" EXACT [] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +is_a: HP:0025454 ! Abnormal CSF metabolite level +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:44Z xsd:dateTime + +[Term] +id: HP:0410059 +name: Increased level of D-threitol in urine +def: "An increase in the level of D-threitol in the urine." [PMID:14988808] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:50Z xsd:dateTime + +[Term] +id: HP:0410060 +name: Decreased level of D-mannose in urine +def: "A decrease in the level of D-mannose in the urine." [PMID:29099052] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:01:57Z xsd:dateTime + +[Term] +id: HP:0410061 +name: Increased level of galactitol in plasma +def: "An increase in the level of galactitol in the plasma." [PMID:11092512, PMID:7671965] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:37:31Z xsd:dateTime + +[Term] +id: HP:0410062 +name: Increased level of galactitol in urine +def: "An increase in the level of galactitol in the urine." [PMID:11092512, PMID:7671965] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:38:29Z xsd:dateTime + +[Term] +id: HP:0410063 +name: Increased level of galactonate in red blood cells +def: "An increase in the level of galactonate in the red blood cells." [PMID:14680973] +synonym: "Increased level of galactonate in erythrocytes" EXACT [] +is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:39:38Z xsd:dateTime + +[Term] +id: HP:0410064 +name: Increased level of galactitol in red blood cells +def: "An increase in the level of galactitol in the red blood cells." [PMID:14680973] +synonym: "Increased level of galactitol in erythrocytes" EXACT [] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:40:39Z xsd:dateTime + +[Term] +id: HP:0410065 +name: Increased level of hippuric acid in blood +def: "An increase in the level of hippuric acid in the blood." [PMID:22626821] +synonym: "Increased level of N-benzoylglycine in blood" EXACT [] +is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:41:34Z xsd:dateTime + +[Term] +id: HP:0410066 +name: Increased level of hippuric acid in urine +def: "An increase in the level of hippuric acid in the urine." [PMID:19551947, PMID:22626821] +synonym: "Increased level of N-benzoylglycine in urine" EXACT [] +is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:42:45Z xsd:dateTime + +[Term] +id: HP:0410067 +name: Increased level of L-fucose in urine +def: "An increase in the level of L-fucose in the urine." [PMID:2311216] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:55:21Z xsd:dateTime + +[Term] +id: HP:0410068 +name: Increased level of L-glutamic acid in blood +def: "An increase in the level of L-glutamic acid in the blood." [PMID:7623444] +is_a: HP:0010902 ! Abnormality of glutamine family amino acid metabolism +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:56:49Z xsd:dateTime + +[Term] +id: HP:0410069 +name: Increased level of propylene glycol in blood +def: "An increase in the level of propylene glycol in the blood." [PMID:3426740] +synonym: "Increased level of propane-1,2-diol in blood" EXACT [] +is_a: HP:0001939 ! Abnormality of metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:57:39Z xsd:dateTime + +[Term] +id: HP:0410070 +name: Increased level of ribitol in urine +def: "An increase in the level of ribitol in the urine." [PMID:14988808] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:58:41Z xsd:dateTime + +[Term] +id: HP:0410071 +name: Increased level of ribitol in CSF +def: "An increase in the level of ribitol in the cerebral spinal fluid." [PMID:14988808] +synonym: "Increased level of ribitol in cerebrospinal fluid" EXACT [] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:59:19Z xsd:dateTime + +[Term] +id: HP:0410072 +name: Increased level of ribose in urine +def: "An increase in the level of ribose in the urine." [PMID:14988808] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:47:12Z xsd:dateTime + +[Term] +id: HP:0410073 +name: Increased level of ribose in CSF +def: "An increase in the level of ribose in the cerebrospinal fluid." [PMID:14988808] +synonym: "Increased level of ribose in cerebrospinal fluid" EXACT [] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:47:46Z xsd:dateTime + +[Term] +id: HP:0410074 +name: Increased level of xylitol in urine +def: "An increase in the level of xylitol in the urine." [PMID:14988808] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:49:41Z xsd:dateTime + +[Term] +id: HP:0410075 +name: Increased level of xylitol in CSF +def: "An increase in the level of xylitol in the cerebrospinal fluid." [PMID:14988808] +synonym: "Increased level of xylitol in cerebrospinal fluid" EXACT [] +is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:50:08Z xsd:dateTime + +[Term] +id: HP:0410132 +name: Increased level of L-pyroglutamic acid in urine +def: "An increase in the level of L-pyroglutamic acid in the urine." [PMID:10094443, PMID:4557757] +synonym: "Increased level of 5-oxo-L-proline in urine" EXACT [] +is_a: HP:0010907 ! Abnormality of proline metabolism +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-22T18:07:36Z xsd:dateTime + +[Term] +id: HP:0410133 +name: Chronic idiopathic urticaria +def: "Urticaria characterized by spontaneously recurring hives for 6 weeks or longer." [PMID:25807072] +synonym: "Chronic spontaneous urticaria" EXACT [PMID:25807072] +synonym: "CIU" EXACT HP:0045077 [PMID:25807072] +synonym: "CSU" EXACT HP:0045077 [PMID:25807072] +is_a: HP:0001025 ! Urticaria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:33:51Z xsd:dateTime + +[Term] +id: HP:0410134 +name: Physical urticaria +def: "Urticaria caused by physical agents, such as heat, cold, light, friction." [PMID:11702618] +is_a: HP:0001025 ! Urticaria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:37:30Z xsd:dateTime + +[Term] +id: HP:0410135 +name: Cold urticaria +def: "Urticaria may be caused by cold temperatures." [PMID:11702618] +is_a: HP:0410134 ! Physical urticaria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:45:27Z xsd:dateTime + +[Term] +id: HP:0410136 +name: Aquagenic urticaria +def: "A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin." [PMID:22346281] +is_a: HP:0410134 ! Physical urticaria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:52:44Z xsd:dateTime + +[Term] +id: HP:0410137 +name: Solar urticaria +def: "Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light." [PMID:29315482] +is_a: HP:0410134 ! Physical urticaria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:07:52Z xsd:dateTime + +[Term] +id: HP:0410138 +name: Vibratory urticaria +def: "Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." [PMID:26841242] +is_a: HP:0410134 ! Physical urticaria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:14:35Z xsd:dateTime + +[Term] +id: HP:0410139 +name: Exercise induced anaphylaxis +def: "Anaphylaxis after physical activity." [PMID:7400473] +is_a: HP:0100845 ! Anaphylactic shock +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-5208-3432 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:22:59Z xsd:dateTime + [Term] id: HP:0430000 name: Abnormality of the frontal bone def: "An abnormality of the frontal bone." [GOC:MG] -synonym: "Abnormality of the bone of the forehead" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of the frontal bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the frontal bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the frontal bone" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the bone of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of the frontal bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the frontal bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the frontal bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021873 is_a: HP:0011821 ! Abnormality of facial skeleton @@ -136883,9 +137717,9 @@ is_a: HP:0011821 ! Abnormality of facial skeleton id: HP:0430002 name: Abnormality of the lacrimal bone def: "An abnormality of the lacrimal bone." [GOC:MG] -synonym: "Anomaly of the lacrimal bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the lacrimal bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the lacrimal bone" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021872 is_a: HP:0011821 ! Abnormality of facial skeleton @@ -136893,9 +137727,9 @@ is_a: HP:0011821 ! Abnormality of facial skeleton id: HP:0430003 name: Abnormality of the palatine bone def: "An abnormality of the palatine bone." [GOC:MG] -synonym: "Anomaly of the palatine bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the palatine bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the palatine bone" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the palatine bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the palatine bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the palatine bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021871 is_a: HP:0011821 ! Abnormality of facial skeleton @@ -136909,9 +137743,9 @@ is_a: HP:0011821 ! Abnormality of facial skeleton id: HP:0430005 name: Abnormality of ethmoid bone def: "An abnormality of the ethmoid bone" [GOC:MG] -synonym: "Anomaly of the ethmoid bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of the ethmoid bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of the ethmoid bone" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Anomaly of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Deformity of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Malformation of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021869 is_a: HP:0011821 ! Abnormality of facial skeleton @@ -136927,8 +137761,8 @@ is_a: HP:0000499 ! Abnormality of the eyelashes id: HP:0430007 name: Symblepharon def: "A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball." [GOC:MG, http://en.wikipedia.org/wiki/Symblepharon] -synonym: "Eyelid adhesion to globe of eye" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Eyelid stuck to eyeball" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Eyelid adhesion to globe of eye" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Eyelid stuck to eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:90216006 xref: UMLS:C0152454 is_a: HP:0000492 ! Abnormal eyelid morphology @@ -136937,8 +137771,8 @@ is_a: HP:0000492 ! Abnormal eyelid morphology id: HP:0430008 name: Accessory eyelid def: "The presence of more than the normal number of eyelids." [GOC:MG] -synonym: "Double eyelid" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Extra eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Double eyelid" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Extra eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:24606006 xref: UMLS:C0266576 xref: UMLS:C4280275 @@ -136948,10 +137782,10 @@ is_a: HP:0000492 ! Abnormal eyelid morphology id: HP:0430009 name: Hypoplasia of eyelid def: "Developmental hypoplasia of the eyelid." [GOC:MG] -synonym: "Decreased size of eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Short eyelid" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Small eyelid" BROAD layperson [orcid.org/0000-0001-5889-4463] -synonym: "Underdevelopment of eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Decreased size of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Short eyelid" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Small eyelid" BROAD layperson [ORCID:0000-0001-5889-4463] +synonym: "Underdevelopment of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:204203001 xref: UMLS:C0344499 xref: UMLS:C4280274 @@ -136961,7 +137795,7 @@ is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid id: HP:0430010 name: Microblepharia def: "Abnormal shortness of the vertical dimensions of the eyelids." [http://medical-dictionary.thefreedictionary.com/microblepharia] -synonym: "Abnormally small eyelid" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormally small eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:94684003 xref: UMLS:C0685873 is_a: HP:0000492 ! Abnormal eyelid morphology @@ -136977,9 +137811,9 @@ is_a: HP:0000502 ! Abnormality of the conjunctiva id: HP:0430012 name: Incomplete ossification of palatine bone def: "Failure to complete ossification (maturation and calcification) of the palatine bone." [GOC:MG] -synonym: "Incomplete calcification of palatine bone" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Incomplete formation of palatine bone" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Incomplete mineralization of palatine bone" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Incomplete calcification of palatine bone" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Incomplete formation of palatine bone" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Incomplete mineralization of palatine bone" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:93595006 xref: UMLS:C0685213 is_a: HP:0430003 ! Abnormality of the palatine bone @@ -136988,16 +137822,16 @@ is_a: HP:0430003 ! Abnormality of the palatine bone id: HP:0430013 name: Absent palatine bone ossification def: "Lack of formation of the palatine bone." [GOC:MG] -synonym: "Absence of palatine bone calcification" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Absence of palatine bone formation" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Absence of palatine bone mineralization" NARROW [orcid.org/0000-0001-5889-4463] +synonym: "Absence of palatine bone calcification" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Absence of palatine bone formation" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Absence of palatine bone mineralization" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021867 is_a: HP:0430003 ! Abnormality of the palatine bone [Term] id: HP:0430014 name: Abnormality of musculature of soft palate -def: "An abnormality of one or more of the five muscles of the soft palate." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of one or more of the five muscles of the soft palate." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of soft palate muscles" EXACT [] xref: UMLS:C4073196 is_a: HP:0003011 ! Abnormality of the musculature @@ -137006,7 +137840,7 @@ is_a: HP:0100736 ! Abnormality of the soft palate [Term] id: HP:0430015 name: Abnormality of musculature of pharynx -def: "An abnormality of any of the muscles of the pharynx." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of any of the muscles of the pharynx." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of muscles of the pharynx" EXACT [] synonym: "Abnormality of pharyngeal musculature" EXACT [] synonym: "Abnormality of pharynx musculature" EXACT [] @@ -137017,14 +137851,14 @@ is_a: HP:0003011 ! Abnormality of the musculature [Term] id: HP:0430016 name: Abnormality of tensor veli palatini muscle -def: "An abnormality of the tensor veli palatini muscle" [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the tensor veli palatini muscle" [ORCID:0000-0001-5889-4463] xref: UMLS:C4073198 is_a: HP:0430014 ! Abnormality of musculature of soft palate [Term] id: HP:0430017 name: Abnormality of uvular muscle -def: "An abnormality of the uvular muscle" [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the uvular muscle" [ORCID:0000-0001-5889-4463] synonym: "Abnormality of musculus uvulae" EXACT [] xref: UMLS:C4073199 is_a: HP:0000172 ! Abnormality of the uvula @@ -137033,7 +137867,7 @@ is_a: HP:0430014 ! Abnormality of musculature of soft palate [Term] id: HP:0430018 name: Abnormality of nasal musculature -def: "An abnormality of the muscles of the structure of the nose." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the muscles of the structure of the nose." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of muscle of nose" EXACT layperson [] synonym: "Abnormality of musculature of the nose" EXACT layperson [] synonym: "Abnormality of nasal musculature" EXACT layperson [] @@ -137043,7 +137877,7 @@ is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0430019 name: Abnormality of muscle of facial expression -def: "An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of muscle of facial expression" EXACT layperson [] synonym: "Abnormality of musculature of facial expression" EXACT [] xref: UMLS:C4073201 @@ -137052,14 +137886,14 @@ is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0430020 name: Abnormality of levator labii superioris alaeque nasi muscle -def: "An abnormality of the levator labii superioris alaeque nasi muscle." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the levator labii superioris alaeque nasi muscle." [ORCID:0000-0001-5889-4463] xref: UMLS:C4073202 is_a: HP:0430019 ! Abnormality of muscle of facial expression [Term] id: HP:0430021 name: Abnormal common carotid artery morphology -def: "An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the common carotid artery" EXACT layperson [] xref: UMLS:C4073203 is_a: HP:0005344 ! Abnormal carotid artery morphology @@ -137067,7 +137901,7 @@ is_a: HP:0005344 ! Abnormal carotid artery morphology [Term] id: HP:0430022 name: Abnormality of the sphenoid sinus -def: "An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the sphenoidal sinus" EXACT [] xref: UMLS:C4073204 is_a: HP:0000245 ! Abnormality of the paranasal sinuses @@ -137075,39 +137909,39 @@ is_a: HP:0000245 ! Abnormality of the paranasal sinuses [Term] id: HP:0430023 name: Abnormality of the maxillary sinus -def: "An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the antrum of Highmore" EXACT [] synonym: "Abnormality of the maxillary antrum" EXACT [] -synonym: "Abnormality of the upper jaw sinus" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of the upper jaw sinus" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073205 is_a: HP:0000245 ! Abnormality of the paranasal sinuses [Term] id: HP:0430024 name: Abnormality of external jugular vein -def: "An abnormality of an external jugular vein of the neck." [orcid.org/0000-0001-5889-4463] +def: "An abnormality of an external jugular vein of the neck." [ORCID:0000-0001-5889-4463] xref: UMLS:C4073206 is_a: HP:3000042 ! Abnormal jugular vein morphology [Term] id: HP:0430025 name: Bilateral facial palsy -def: "Two-sided or bilateral weakness of the muscles of facial expression and eye closure." [orcid.org/0000-0001-5889-4463] -synonym: "Bilateral facial muscle paralysis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Bilateral facial muscle weakness" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Bilateral facial paralysis" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Paralysis of both sides of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Weakness of both sides of the face" EXACT layperson [orcid.org/0000-0001-5889-4463] +def: "Two-sided or bilateral weakness of the muscles of facial expression and eye closure." [ORCID:0000-0001-5889-4463] +synonym: "Bilateral facial muscle paralysis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Bilateral facial muscle weakness" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Bilateral facial paralysis" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Paralysis of both sides of the face" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Weakness of both sides of the face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073207 is_a: HP:0010628 ! Facial palsy [Term] id: HP:0430026 name: Abnormality of the shape of the midface -def: "An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims." [orcid.org/0000-0001-5889-4463] -synonym: "Abnormal morphology of the midface" EXACT [orcid.org/0000-0001-5889-4463] +def: "An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims." [ORCID:0000-0001-5889-4463] +synonym: "Abnormal morphology of the midface" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the shape of the midface" EXACT layperson [] -synonym: "Dysmorphic midface" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Dysmorphic midface" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073208 is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0001999 ! Abnormal facial shape @@ -137116,27 +137950,27 @@ is_a: HP:0001999 ! Abnormal facial shape id: HP:0430028 name: Hyperplasia of the maxilla def: "Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla." [] -synonym: "Big maxilla" EXACT [orcid.org/0000-0001-5889-4463] {synonymtypedef="layperson"} -synonym: "Big upper jaw" EXACT [orcid.org/0000-0001-5889-4463] {synonymtypedef="layperson"} -synonym: "Hyperplasia of upper jaw" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of maxilla" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Hypertrophy of upper jaw" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Increased projection of maxilla" NARROW [orcid.org/0000-0001-5889-4463] -synonym: "Increased projection of upper jaw" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of upper jaw" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Large upper jaw" EXACT [orcid.org/0000-0001-5889-4463] {synonymtypedef="layperson"} -synonym: "Maxillary excess" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary hyperplasia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary macrognathia" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary prognathia" RELATED [orcid.org/0000-0001-5889-4463] -synonym: "Maxillary prominence" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Big maxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Big upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of upper jaw" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of maxilla" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Hypertrophy of upper jaw" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Increased projection of maxilla" NARROW [ORCID:0000-0001-5889-4463] +synonym: "Increased projection of upper jaw" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Increased size of maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased size of upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Large maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Maxillary excess" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Maxillary hyperplasia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Maxillary macrognathia" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Maxillary prognathia" RELATED [ORCID:0000-0001-5889-4463] +synonym: "Maxillary prominence" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prognathia of the upper jaw" RELATED [] -synonym: "Prominent maxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Prominent upper jaw" EXACT [orcid.org/0000-0001-5889-4463] {synonymtypedef="layperson"} -synonym: "Upper jaw bone excess" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Upper jaw excess" EXACT [orcid.org/0000-0001-5889-4463] {synonymtypedef="layperson"} +synonym: "Prominent maxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Prominent upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Upper jaw bone excess" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Upper jaw excess" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:28070007 xref: UMLS:C0266081 xref: UMLS:C2227090 @@ -137148,15 +137982,15 @@ is_a: HP:0000326 ! Abnormality of the maxilla [Term] id: HP:0430029 name: Hyperplasia of the premaxilla -def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures." [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of the intermaxillary bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Hyperplasia of the primary palate bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of premaxilla" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Increased size of the primary palate bone" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Large premaxilla" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Large primary palate bone" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Premaxillary excess" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Primary palate bone excess" EXACT layperson [orcid.org/0000-0001-5889-4463] +def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures." [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Hyperplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased size of premaxilla" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Increased size of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Large premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Large primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Premaxillary excess" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Primary palate bone excess" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073210 is_a: HP:0010758 ! Abnormality of the premaxilla @@ -137164,7 +137998,7 @@ is_a: HP:0010758 ! Abnormality of the premaxilla id: HP:0500001 name: Body odor def: "A perceived unpleasant smell given off by the body." [HPO:probinson] -synonym: "BO" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "BO" EXACT HP:0045077 [] synonym: "Body odor" EXACT layperson [] synonym: "Body odour" EXACT [] synonym: "Bromhidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview] @@ -137200,14 +138034,14 @@ name: Cornea verticillata def: "Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea." [HPO:probinson] comment: Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. {xref="HPO:probinson"} synonym: "Vortex keratopathy" EXACT [] -is_a: HP:0000481 ! Abnormality of the cornea +is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0500009 name: Dysplastic gangliocytoma of the cerebellum def: "It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum." [PMID:11073535] comment: Often associated with Cowden syndrome. {xref="PMID:11073535"} -synonym: "LDD" RELATED [] {synonymtypedef="HP:0045077"} +synonym: "LDD" RELATED HP:0045077 [] synonym: "Lhermitte-Duclos disease" RELATED [] is_a: HP:0001317 ! Abnormality of the cerebellum @@ -137233,7 +138067,7 @@ is_a: HP:0001999 ! Abnormal facial shape id: HP:0500012 name: Abnormality of gonadotropin-releasing hormone level def: "A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland." [HPO:probinson] -synonym: "Abnormality of GnRH level" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "Abnormality of GnRH level" EXACT HP:0045077 [] is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] @@ -137252,7 +138086,7 @@ synonym: "Abnormal test result" EXACT layperson [] synonym: "Abnormal test results" EXACT layperson [] synonym: "Test based abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:12:17Z xsd:dateTime [Term] @@ -137260,7 +138094,7 @@ id: HP:0500015 name: Abnormal cardiac test def: "Abnormal test result of cardiovascular physiology." [] is_a: HP:0500014 ! Abnormal test result -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:23:33Z xsd:dateTime [Term] @@ -137270,16 +138104,16 @@ def: "Abnormal results of a MRI for the heart." [] synonym: "Abnormal cardiac magnetic resonance imaging" EXACT [] synonym: "Abnormal heart MRI" EXACT [] is_a: HP:0500015 ! Abnormal cardiac test -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:33:16Z xsd:dateTime [Term] id: HP:0500017 name: Abnormal cardiac catheterization def: "Abnormal results from the diagnostic tests resulting from cardiac catheterization." [] -synonym: "Abnormal cardiac cath" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "Abnormal cardiac cath" EXACT HP:0045077 [] is_a: HP:0500015 ! Abnormal cardiac test -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:36:51Z xsd:dateTime [Term] @@ -137290,7 +138124,7 @@ synonym: "Abnormal cardiac exercise test" EXACT [] synonym: "Abnormal exercise test" BROAD layperson [] synonym: "Abnormal treadmill test" EXACT layperson [] is_a: HP:0500015 ! Abnormal cardiac test -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:41:01Z xsd:dateTime [Term] @@ -137299,7 +138133,7 @@ name: Abnormal resting energy expenditure from metabolic cart test def: "Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2)." [http://emedicine.medscape.com/article/2009552-overview] synonym: "Abnormal metabolic cart test" EXACT [] is_a: HP:0500015 ! Abnormal cardiac test -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:49:32Z xsd:dateTime [Term] @@ -137307,15 +138141,15 @@ id: HP:0500020 name: Abnormal cardiac biomarker test def: "Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes." [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers] is_a: HP:0500015 ! Abnormal cardiac test -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:54:55Z xsd:dateTime [Term] id: HP:0500021 name: Reduced brain gamma-aminobutyric acid level by MRS -def: "An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS)." [http://orcid.org/0000-0003-0169-8159, PMID:27388694] +def: "An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:27388694] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T19:29:53Z xsd:dateTime [Term] @@ -137324,9 +138158,9 @@ name: Abnormal serum dehydroepiandrosterone level def: "A deviation from the normal concentration of dehydroepiandrosterone in the circulation." [PMID:27979632] comment: Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids. synonym: "Abnormal serum androstenolone level" EXACT [] -synonym: "Abnormal serum DHEA" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "Abnormal serum DHEA" EXACT HP:0045077 [] is_a: HP:0030347 ! Abnormal circulating androgen level -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T19:38:52Z xsd:dateTime [Term] @@ -137335,7 +138169,7 @@ name: Shoulder muscle aplasia def: "Absence of shoulder muscles." [] synonym: "Absent shoulder muscle" EXACT [] is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:40:00Z xsd:dateTime [Term] @@ -137343,7 +138177,7 @@ id: HP:0500024 name: Aplasia of the musculature of the pelvis def: "Absence of the musculature of the pelvis." [] is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:51:46Z xsd:dateTime [Term] @@ -137351,7 +138185,7 @@ id: HP:0500026 name: Hypoplasia of the musculature of the pelvis def: "Underdevelopment of the musculature of the pelvis." [] is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:53:10Z xsd:dateTime [Term] @@ -137361,24 +138195,24 @@ def: "Congenital absence of the colon" [] synonym: "Absence of the colon" EXACT [] synonym: "Aplasia of the colon" EXACT [] is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T17:10:13Z xsd:dateTime [Term] id: HP:0500028 name: Cotton wool plaques def: "Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes." [PMID:20460383] -synonym: "CWPs" EXACT [] {synonymtypedef="HP:0045077"} +synonym: "CWPs" EXACT HP:0045077 [] is_a: HP:0100256 ! Senile plaques -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T18:52:34Z xsd:dateTime [Term] id: HP:0500030 name: Abnormal hepatic glycogen storage def: "Change in normal glycogen storage content." [PMID:26835382] -is_a: HP:0001392 ! Abnormality of the liver -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +is_a: HP:0410042 ! Abnormal liver morphology +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-01T16:35:52Z xsd:dateTime [Term] @@ -137386,8 +138220,8 @@ id: HP:0500031 name: Sclerosis of the carpal bones def: "An elevation in bone density in one or more carpal bones of the hand." [PMID:21120491] is_a: HP:0004054 ! Sclerosis of hand bone -property_value: http://purl.org/dc/elements/1.1/contributor http://orcid.org/0000-0003-0169-8159 xsd:string -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/contributor ORCID:0000-0003-0169-8159 xsd:string +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-01T16:54:00Z xsd:dateTime [Term] @@ -137397,8 +138231,8 @@ def: "Abnormality of the structure and branching of the dendrites of a neuron." synonym: "Aberrant neuronal branching" EXACT [] synonym: "Abnormal neuronal branching" EXACT [] is_a: HP:0012757 ! Abnormal neuron morphology -property_value: http://purl.org/dc/elements/1.1/contributor http://orcid.org/0000-0003-0169-8159 xsd:string -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/contributor ORCID:0000-0003-0169-8159 xsd:string +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-07T17:35:08Z xsd:dateTime [Term] @@ -137406,9 +138240,378 @@ id: HP:0500033 name: Abnormal natural killer subset distribution def: "Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells." [] is_a: HP:0040089 ! Abnormal natural killer cell count -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-7941-2961 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2018-01-08T19:18:59Z xsd:dateTime +[Term] +id: HP:0500034 +name: Nasolacrimal sac obstruction +def: "Blockage of the nasolacrimal sac." [PMID:17203310] +is_a: HP:3000066 ! Abnormal lacrimal sac morphology +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:35:58Z xsd:dateTime + +[Term] +id: HP:0500035 +name: Nasolacrimal sac granuloma +def: "A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac." [PMID:13434546] +is_a: HP:0500034 ! Nasolacrimal sac obstruction +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:48:25Z xsd:dateTime + +[Term] +id: HP:0500036 +name: Nasolacrimal sac papilloma +def: "Benign tumor of the nasolacrimal sac." [PMID:4352147] +is_a: HP:0500035 ! Nasolacrimal sac granuloma +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:58:13Z xsd:dateTime + +[Term] +id: HP:0500037 +name: Nasolacrimal sac epithelial papillary carcinoma +def: "The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac." [PMID:16253035] +is_a: HP:3000066 ! Abnormal lacrimal sac morphology +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T17:14:14Z xsd:dateTime + +[Term] +id: HP:0500039 +name: Conjunctival cicatrization +def: "An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring." [ORCID:0000-0003-0986-4123] +synonym: "Cicatricial conjunctivitis" EXACT [] +synonym: "Cicatrizating conjunctivitis" EXACT [] +synonym: "Conjunctival cicatricial conjunctivitis" EXACT [] +is_a: HP:0030947 ! Conjunctival follicles +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T14:47:58Z xsd:dateTime + +[Term] +id: HP:0500040 +name: Dermolipoma of the conjunctiva +def: "A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix." [Dutton\, Jonathan J.\, Gregg S. Gayre\, and Alan D. Proia. Diagnostic atlas of common eyelid diseases. New York: Informa Healthcare\, 2007. Print.] +synonym: "Conjunctival lipodermoid" EXACT [] +is_a: HP:0500039 ! Conjunctival cicatrization +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T15:28:59Z xsd:dateTime + +[Term] +id: HP:0500041 +name: Myopic astigmatism +def: "A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest." [https://www.aoa.org/] +is_a: HP:0000483 ! Astigmatism +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T15:53:24Z xsd:dateTime + +[Term] +id: HP:0500042 +name: Latent hypermetropia +def: "A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye." [] +synonym: "Latent hyperopia" EXACT [] +is_a: HP:0008499 ! High hypermetropia +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T18:41:23Z xsd:dateTime + +[Term] +id: HP:0500043 +name: Eyelid retraction +def: "With the eyes in primary position, the sclera is visible above the superior corneal limbus." [https://www.aao.org/bcscsnippetdetail.aspx?id=03ad3eb3-3445-4be2-9470-2c4845169b75, PMID:8719687] +is_a: HP:0000492 ! Abnormal eyelid morphology +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:22:49Z xsd:dateTime + +[Term] +id: HP:0500044 +name: Upper eyelid retraction +def: "An elevation of the eyelid above the normal level in the primary position." [PMID:7735674] +is_a: HP:0500043 ! Eyelid retraction +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:39:46Z xsd:dateTime + +[Term] +id: HP:0500045 +name: Collier's sign +def: "A unilateral or bilateral eyelid retraction due to midbrain lesions." [PMID:17323781] +is_a: HP:0500044 ! Upper eyelid retraction +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:48:13Z xsd:dateTime + +[Term] +id: HP:0500046 +name: Seborrhoeic blepharitis +def: "Inflamation of the eyelid due to overactivity of the sebaceous gland." [PMID:10777824] +comment: There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. {xref="PMID:10777824"} +is_a: HP:0025610 ! Posterior blepharitis +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T17:03:04Z xsd:dateTime + +[Term] +id: HP:0500047 +name: Nasolacrimal sac lymphoma +def: "A type of lymphoma that involves the nasolacrimal sac." [ORCID:0000-0003-0986-4123, PMID:9392338] +is_a: HP:3000066 ! Abnormal lacrimal sac morphology +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-12T18:31:38Z xsd:dateTime + +[Term] +id: HP:0500048 +name: Delayed canalization of nasolacrimal duct +def: "A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period." [PMID:11222337] +is_a: HP:0000579 ! Nasolacrimal duct obstruction +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T15:38:47Z xsd:dateTime + +[Term] +id: HP:0500049 +name: Retinopathy of prematurity +def: "An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham, PMID:16009843] +is_a: HP:0000488 ! Retinopathy +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:14:43Z xsd:dateTime + +[Term] +id: HP:0500050 +name: Retinopathy of prematurity stage 1 +def: "The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham, PMID:16009843] +synonym: "ROP stage 1" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:27:23Z xsd:dateTime + +[Term] +id: HP:0500051 +name: Retinopathy of prematurity stage 2 +def: "The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP stage 2" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:30:02Z xsd:dateTime + +[Term] +id: HP:0500052 +name: Retinopathy of prematurity stage 3 +def: "The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP stage 3" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:43:45Z xsd:dateTime + +[Term] +id: HP:0500053 +name: Retinopathy of prematurity stage 4 +def: "Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +comment: Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase. {xref="Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham"} +synonym: "ROP stage 4" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:51:13Z xsd:dateTime + +[Term] +id: HP:0500054 +name: Retinopathy of prematurity stage 4a +def: "A detachment that involves the peripheral retina that does not extend into the macula." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP stage 4a" EXACT HP:0045077 [] +is_a: HP:0500053 ! Retinopathy of prematurity stage 4 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:56:37Z xsd:dateTime + +[Term] +id: HP:0500055 +name: Retinopathy of prematurity stage 4b +def: "A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP 4b" EXACT HP:0045077 [] +is_a: HP:0500053 ! Retinopathy of prematurity stage 4 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:56:48Z xsd:dateTime + +[Term] +id: HP:0500056 +name: Retinopathy of prematurity stage 5 +def: "Funnel detachment from the retina with generally traction in all four quadrants." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP stage 5" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:11:28Z xsd:dateTime + +[Term] +id: HP:0500057 +name: Retinopathy of prematurity stage 5a +def: "An open funnel detachment of the retina with generally traction in all four quadrants." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP stage 5a" EXACT HP:0045077 [] +is_a: HP:0500056 ! Retinopathy of prematurity stage 5 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:16:16Z xsd:dateTime + +[Term] +id: HP:0500058 +name: Retinopathy of prematurity stage 5b +def: "A closed funnel detachment of the retina with generally traction in all four quadrants." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP stage 5b" EXACT HP:0045077 [] +is_a: HP:0500056 ! Retinopathy of prematurity stage 5 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:16:26Z xsd:dateTime + +[Term] +id: HP:0500059 +name: Retinopathy of prematurity zone I +def: "Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham, PMID:16009843] +synonym: "ROP zone 1" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:24:42Z xsd:dateTime + +[Term] +id: HP:0500060 +name: Retinopathy of prematurity zone II +def: "Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham, PMID:16009843] +synonym: "ROP zone II" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:52:54Z xsd:dateTime + +[Term] +id: HP:0500061 +name: Retinopathy of prematurity zone III +def: "Retinopathy which is a residual crescent of retina anterior to zone II." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham, PMID:16009843] +synonym: "ROP zone III" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:53:11Z xsd:dateTime + +[Term] +id: HP:0500062 +name: Retinopathy of prematurity plus +def: "Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye." [PMID:16009843] +synonym: "ROP plus" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:17:35Z xsd:dateTime + +[Term] +id: HP:0500063 +name: Retinopathy of prematurity pre-plus +def: "As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal." [PMID:16009843] +comment: Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. {xref="PMID:16009843"} +synonym: "ROP pre-plus" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:18:12Z xsd:dateTime + +[Term] +id: HP:0500064 +name: Retinopathy of prematurity threshold +def: "A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP threshold" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:26:45Z xsd:dateTime + +[Term] +id: HP:0500065 +name: Retinopathy of prematurity prethreshold +def: "High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both." [Lee T. (2017) Classification of ROP. In: Kychenthal B. A.\, Dorta S. P. (eds) Retinopathy of Prematurity. Springer\, Cham] +synonym: "ROP prethreshold" EXACT HP:0045077 [] +is_a: HP:0500049 ! Retinopathy of prematurity +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:26:57Z xsd:dateTime + +[Term] +id: HP:0500066 +name: Latent myopia +def: "The difference between total and manifest myopia." [ORCID:0000-0003-0986-4123] +is_a: HP:0000545 ! Myopia +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:14:19Z xsd:dateTime + +[Term] +id: HP:0500069 +name: Paralytic ectropion +def: "A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy." [ISBN-13:9781416029076, ORCID:0000-0003-0986-4123] +is_a: HP:0000656 ! Ectropion +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:37:32Z xsd:dateTime + +[Term] +id: HP:0500070 +name: Conjunctival dermolipoma +def: "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus." [ORCID:0000-0003-0986-4123] +is_a: HP:0000502 ! Abnormality of the conjunctiva +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:48:12Z xsd:dateTime + +[Term] +id: HP:0500072 +name: Absolute eccentric fixation +def: "Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation." [ORCID:0000-0003-0986-4123] +is_a: HP:0025549 ! Eccentric visual fixation +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:22:07Z xsd:dateTime + +[Term] +id: HP:0500073 +name: Abnormal ocular alignment +def: "Any deviation from the normal ocular alignment." [ORCID:0000-0001-7941-2961] +is_a: HP:0000496 ! Abnormality of eye movement +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:50:33Z xsd:dateTime + +[Term] +id: HP:0500074 +name: Dissociated vertical deviation +def: "An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering." [ISBN-13:978-0199679980] +comment: Dissociated vertical deviation (DVD ) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. {xref="ISBN-13:978-0199679980", xref="ORCID:0000-0003-0986-4123"} +is_a: HP:0500073 ! Abnormal ocular alignment +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:53:08Z xsd:dateTime + +[Term] +id: HP:0500075 +name: Dissociated horizontal deviation +def: "A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes." [PMID:18427617] +is_a: HP:0500073 ! Abnormal ocular alignment +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:53:28Z xsd:dateTime + +[Term] +id: HP:0500076 +name: Alternating hypetropia +def: "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards." [ORCID:0000-0003-0986-4123] +is_a: HP:0025586 ! Hypertropia +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:13:10Z xsd:dateTime + +[Term] +id: HP:0500077 +name: Alternating hyperphoria +def: "A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards." [ORCID:0000-0003-0986-4123] +is_a: HP:0025585 ! Hyperphoria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:15:24Z xsd:dateTime + +[Term] +id: HP:0500078 +name: Alternating hypotropia +def: "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards." [ORCID:0000-0003-0986-4123] +is_a: HP:0025584 ! Hypotropia +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:22:54Z xsd:dateTime + +[Term] +id: HP:0500079 +name: Alternating hypophoria +def: "A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards." [ORCID:0000-0003-0986-4123] +is_a: HP:0031725 ! Hypophoria +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:24:11Z xsd:dateTime + +[Term] +id: HP:0500081 +name: Pseudophakia +def: "The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL)." [https://nei.nih.gov/faqs/cataract-pseudophakia] +is_a: HP:0007707 ! Aphakia +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0001-7941-2961 xsd:string +property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T20:00:29Z xsd:dateTime + [Term] id: HP:0550003 name: Proximal scleroderma @@ -137423,7 +138626,7 @@ name: Verruca plana def: "Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals." [HPO:ucbasharo] synonym: "Flat wart" EXACT layperson [] is_a: HP:0200043 ! Verrucae -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0002-6387-4317 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0002-6387-4317 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-08-03T19:50:21Z xsd:dateTime [Term] @@ -137434,7 +138637,7 @@ synonym: "Lung disease with systemic sclerosis" EXACT [] synonym: "Scleroderma lung disease" EXACT [] synonym: "Scleroderma of lung" EXACT [] is_a: HP:0002206 ! Pulmonary fibrosis -property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0002-6387-4317 +property_value: http://purl.org/dc/elements/1.1/creator ORCID:0000-0002-6387-4317 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-08-03T19:57:54Z xsd:dateTime [Term] @@ -137442,8 +138645,6 @@ id: HP:3000001 name: obsolete Abnormal heart morphology is_obsolete: true replaced_by: HP:0001627 -created_by: vasilevs -creation_date: 2014-06-30T23:52:23Z [Term] id: HP:3000002 @@ -137555,7 +138756,7 @@ creation_date: 2015-02-26T03:56:09Z [Term] id: HP:3000013 name: Abnormality of platysma -def: "An abnormality of the platysma muscle." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] +def: "An abnormality of the platysma muscle." [GOC:TermGenie, ORCID:0000-0001-5889-4463] synonym: "Abnormality of the platysma muscle" EXACT [] xref: UMLS:C4073222 is_a: HP:0000301 ! Abnormality of facial musculature @@ -137587,7 +138788,7 @@ creation_date: 2015-02-26T03:58:51Z [Term] id: HP:3000016 name: Abnormality of styloglossus muscle -def: "An abnormality of the styloglossus muscle." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] +def: "An abnormality of the styloglossus muscle." [GOC:TermGenie, ORCID:0000-0001-5889-4463] xref: UMLS:C4073225 is_a: HP:0040174 ! Abnormality of extrinsic muscle of tongue created_by: vasilevs @@ -137616,8 +138817,8 @@ creation_date: 2015-02-26T03:59:07Z id: HP:3000019 name: Abnormality of buccal mucosa def: "An abnormality of a buccal mucosa." [GOC:TermGenie] -synonym: "Abnormality of cheek mucosa" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of inside lining of cheek" EXACT layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of cheek mucosa" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of inside lining of cheek" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073228 is_a: HP:0004426 ! Abnormality of the cheek created_by: vasilevs @@ -137655,7 +138856,7 @@ creation_date: 2015-08-07T00:15:54Z [Term] id: HP:3000023 name: Abnormality of angular artery -def: "An abnormality of the angular artery, the terminal branch of the facial artery." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] +def: "An abnormality of the angular artery, the terminal branch of the facial artery." [GOC:TermGenie, ORCID:0000-0001-5889-4463] xref: UMLS:C4073232 is_a: HP:3000024 ! Abnormal facial artery morphology created_by: vasilevs @@ -137664,7 +138865,7 @@ creation_date: 2015-08-07T00:15:58Z [Term] id: HP:3000024 name: Abnormal facial artery morphology -def: "Any structural abnormality of a facial artery, one of the branches of the external carotid artery." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] +def: "Any structural abnormality of a facial artery, one of the branches of the external carotid artery." [GOC:TermGenie, ORCID:0000-0001-5889-4463] synonym: "Abnormality of facial artery" EXACT [] xref: UMLS:C4073233 is_a: HP:0011004 ! Abnormal systemic arterial morphology @@ -137684,8 +138885,7 @@ creation_date: 2015-08-07T00:16:07Z id: HP:3000026 name: obsolete Abnormality of common carotid artery plus branches is_obsolete: true -created_by: vasilevs -creation_date: 2015-08-07T00:16:11Z +consider: HP:0430021 [Term] id: HP:3000027 @@ -137720,9 +138920,9 @@ creation_date: 2015-08-07T00:16:25Z id: HP:3000030 name: Abnormality of bony orbit of skull def: "An abnormality of an orbit of skull." [GOC:TermGenie] -synonym: "Abnormality of bones of the orbit of the skull" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the bony eye socket" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of the orbital bones of skull" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of bones of the orbit of the skull" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the bony eye socket" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of the orbital bones of skull" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073239 is_a: HP:0000315 ! Abnormality of the orbital region is_a: HP:0000606 ! Abnormality of the periorbital region @@ -137753,10 +138953,10 @@ creation_date: 2015-08-07T00:27:17Z id: HP:3000033 name: Abnormality of nasopharyngeal adenoids def: "Any abnormality of nasopharyngeal adenoids." [] -comment: The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. {xref="GOC:TermGenie", xref="orcid.org/0000-0001-5889-4463"} -synonym: "Abnormality of adenoids" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of nasopharyngeal tonsil" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Abnormality of pharyngeal tonsil" EXACT [orcid.org/0000-0001-5889-4463] +comment: The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. {xref="GOC:TermGenie", xref="ORCID:0000-0001-5889-4463"} +synonym: "Abnormality of adenoids" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of nasopharyngeal tonsil" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Abnormality of pharyngeal tonsil" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073241 is_a: HP:0001739 ! Abnormality of the nasopharynx is_a: HP:0100765 ! Abnormality of the tonsils @@ -137768,10 +138968,10 @@ id: HP:3000034 name: Abnormality of cartilage of nasal septum def: "An abnormality of a cartilage of nasal septum." [GOC:TermGenie] synonym: "Abnormality of cartilage of nasal septum" EXACT layperson [] -synonym: "Abnormality of cartilage of septum of nose" EXACT layperson [orcid.org/0000-0001-5889-4463] -synonym: "Anomaly of cartilage of nasal septum" EXACT [orcid.org/0000-0001-5889-4463] -synonym: "Deformity of cartilage of nasal septum" NARROW layperson [orcid.org/0000-0001-5889-4463] -synonym: "Malformation of cartilage of nasal septum" NARROW layperson [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of cartilage of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] +synonym: "Anomaly of cartilage of nasal septum" EXACT [ORCID:0000-0001-5889-4463] +synonym: "Deformity of cartilage of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] +synonym: "Malformation of cartilage of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073242 is_a: HP:0000419 ! Abnormality of the nasal septum is_a: HP:0010937 ! Abnormality of the nasal skeleton @@ -137782,7 +138982,7 @@ creation_date: 2015-08-07T00:27:26Z [Term] id: HP:3000035 name: Abnormality of cervical plexus -def: "Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck." [orcid.org/0000-0001-5889-4463] +def: "Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck." [ORCID:0000-0001-5889-4463] xref: UMLS:C4073243 is_a: HP:0410010 ! Abnormality of somatic nerve plexus created_by: vasilevs @@ -137791,7 +138991,7 @@ creation_date: 2015-08-07T00:35:58Z [Term] id: HP:3000036 name: Abnormality of head blood vessel -def: "An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] +def: "An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head." [GOC:TermGenie, ORCID:0000-0001-5889-4463] synonym: "Abnormality of blood vessel of head" EXACT layperson [] synonym: "Abnormality of head blood vessel" EXACT layperson [] synonym: "Abnormality of vasculature of head" EXACT [] @@ -137804,7 +139004,7 @@ creation_date: 2015-08-07T00:36:02Z [Term] id: HP:3000037 name: Abnormality of neck blood vessel -def: "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] +def: "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck." [GOC:TermGenie, ORCID:0000-0001-5889-4463] synonym: "Abnormality of blood vessel of neck" EXACT layperson [] synonym: "Abnormality of neck blood vessel" EXACT layperson [] synonym: "Abnormality of the cervical blood vessels" EXACT [] @@ -137818,8 +139018,9 @@ creation_date: 2015-08-07T00:36:06Z [Term] id: HP:3000038 -name: Abnormality of cricoid cartilage -def: "An abnormality of a cricoid cartilage." [GOC:TermGenie] +name: Abnormal cricoid cartilage morphology +def: "Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx." [GOC:TermGenie] +synonym: "Abnormality of cricoid cartilage" EXACT [] xref: UMLS:C4073246 is_a: HP:0025423 ! Abnormal larynx morphology is_a: HP:0410007 ! Abnormality of cartilage morphology @@ -137869,7 +139070,7 @@ creation_date: 2015-08-07T01:04:39Z id: HP:3000043 name: Abnormal facial vein morphology def: "An abnormality of a facial vein." [GOC:TermGenie] -synonym: "Abnormal vein of face" EXACT layperson [orcid.org/0000-0001-5208-3432] +synonym: "Abnormal vein of face" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of facial vein" EXACT layperson [] xref: UMLS:C4073251 is_a: HP:0002624 ! Abnormal venous morphology @@ -137881,7 +139082,7 @@ creation_date: 2015-08-07T01:04:44Z [Term] id: HP:3000044 name: Abnormality of frontal process of maxilla -def: "An abnormality of a frontal process of the maxilla bone." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] +def: "An abnormality of a frontal process of the maxilla bone." [GOC:TermGenie, ORCID:0000-0001-5889-4463] xref: UMLS:C4073252 is_a: HP:0000326 ! Abnormality of the maxilla created_by: vasilevs @@ -137977,7 +139178,7 @@ id: HP:3000053 name: Abnormality of hypopharynx def: "An abnormality of a hypopharynx." [GOC:TermGenie] synonym: "Abnormality of hypopharynx" EXACT layperson [] -synonym: "Abnormality of lower pharynx" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of lower pharynx" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073261 is_a: HP:0000600 ! Abnormality of the pharynx created_by: vasilevs @@ -138088,7 +139289,7 @@ creation_date: 2015-08-07T03:19:06Z id: HP:3000064 name: Abnormality of intrinsic muscle of tongue def: "An abnormality of an intrinsic muscle of tongue." [GOC:TermGenie] -synonym: "Abnormality of intrinsic lingual muscle" EXACT [orcid.org/0000-0001-5889-4463] +synonym: "Abnormality of intrinsic lingual muscle" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073271 is_a: HP:0040173 ! Abnormality of the tongue muscle created_by: vasilevs @@ -138117,8 +139318,10 @@ creation_date: 2015-08-07T03:38:31Z [Term] id: HP:3000067 -name: Abnormality of lateral crico-arytenoid -def: "An abnormality of a lateral crico-arytenoid." [GOC:TermGenie] +name: Abnormal lateral cricoarytenoid muscle morphology +def: "Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway." [GOC:TermGenie] +synonym: "Abnormal anterior cricoarytenoid muscle morphology" EXACT [] +synonym: "Abnormality of lateral crico-arytenoid" EXACT [] synonym: "Abnormality of lateral cricoarytenoid muscle" EXACT [] xref: UMLS:C4073274 is_a: HP:0000464 ! Abnormality of the neck diff --git a/hp.owl b/hp.owl index e372f8674..eda75d495 100644 --- a/hp.owl +++ b/hp.owl @@ -30,7 +30,7 @@ The Monarch Initiative The Human Phenotype Ontology Consortium see http://www.human-phenotype-ontology.org - + @@ -432,6 +432,12 @@ + + + + + + @@ -455,6 +461,12 @@ + + + + + + @@ -470,6 +482,12 @@ + + + + + + @@ -493,6 +511,12 @@ + + + + + + @@ -546,6 +570,18 @@ + + + + + + + + + + + + @@ -576,6 +612,24 @@ + + + + + + + + + + + + + + + + + + @@ -588,6 +642,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -600,6 +678,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -642,12 +744,60 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -660,36 +810,90 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -702,6 +906,18 @@ + + + + + + + + + + + + @@ -714,6 +930,12 @@ + + + + + + @@ -726,6 +948,18 @@ + + + + + + + + + + + + @@ -738,6 +972,12 @@ + + + + + + @@ -762,6 +1002,12 @@ + + + + + + @@ -774,6 +1020,24 @@ + + + + + + + + + + + + + + + + + + @@ -786,6 +1050,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -804,12 +1104,36 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -864,12 +1188,24 @@ + + + + + + + + + + + + @@ -888,6 +1224,18 @@ + + + + + + + + + + + + @@ -918,12 +1266,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -960,6 +1338,12 @@ + + + + + + @@ -972,12 +1356,30 @@ + + + + + + + + + + + + + + + + + + @@ -1008,6 +1410,54 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -1020,12 +1470,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -1062,6 +1542,12 @@ + + + + + + @@ -1074,6 +1560,12 @@ + + + + + + @@ -1098,6 +1590,12 @@ + + + + + + @@ -1116,6 +1614,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -1128,18 +1650,60 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -1152,12 +1716,30 @@ + + + + + + + + + + + + + + + + + + @@ -1248,6 +1830,12 @@ + + + + + + @@ -1290,6 +1878,12 @@ + + + + + + @@ -1308,6 +1902,12 @@ + + + + + + @@ -1320,6 +1920,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -1338,6 +1962,12 @@ + + + + + + @@ -1374,6 +2004,18 @@ + + + + + + + + + + + + @@ -1386,12 +2028,24 @@ + + + + + + + + + + + + @@ -1404,6 +2058,12 @@ + + + + + + @@ -1416,6 +2076,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -1458,18 +2154,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -1494,6 +2220,12 @@ + + + + + + @@ -1506,6 +2238,24 @@ + + + + + + + + + + + + + + + + + + @@ -1566,6 +2316,12 @@ + + + + + + @@ -1604,6 +2360,12 @@ + + + + + + @@ -1616,6 +2378,12 @@ + + + + + + @@ -1652,6 +2420,12 @@ + + + + + + @@ -1664,6 +2438,24 @@ + + + + + + + + + + + + + + + + + + @@ -1742,6 +2534,12 @@ + + + + + + @@ -1766,6 +2564,12 @@ + + + + + + @@ -1790,6 +2594,18 @@ + + + + + + + + + + + + @@ -1816,6 +2632,12 @@ + + + + + + @@ -1840,6 +2662,12 @@ + + + + + + @@ -1870,6 +2698,12 @@ + + + + + + @@ -1912,6 +2746,12 @@ + + + + + + @@ -1924,6 +2764,12 @@ + + + + + + @@ -1978,6 +2824,12 @@ + + + + + + @@ -2008,18 +2860,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -2044,6 +2926,18 @@ + + + + + + + + + + + + @@ -2110,6 +3004,12 @@ + + + + + + @@ -2122,18 +3022,66 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -2146,18 +3094,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -2188,6 +3166,12 @@ + + + + + + @@ -2218,12 +3202,30 @@ + + + + + + + + + + + + + + + + + + @@ -2236,12 +3238,30 @@ + + + + + + + + + + + + + + + + + + @@ -2256,6 +3276,24 @@ + + + + + + + + + + + + + + + + + + @@ -2280,6 +3318,18 @@ + + + + + + + + + + + + @@ -2346,6 +3396,18 @@ + + + + + + + + + + + + @@ -2388,6 +3450,12 @@ + + + + + + @@ -2418,6 +3486,12 @@ + + + + + + @@ -2430,6 +3504,18 @@ + + + + + + + + + + + + @@ -2448,6 +3534,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -2460,6 +3570,12 @@ + + + + + + @@ -2474,6 +3590,18 @@ + + + + + + + + + + + + @@ -2795,13 +3923,13 @@ human_phenotype - Urinary infection + Frequent urinary tract infections - Frequent urinary tract infections + Urinary tract infection @@ -2826,7 +3954,7 @@ - Urinary tract infection + Urinary infection @@ -2874,6 +4002,12 @@ human_phenotype Overactive bladder + + Urinary urgency + + + + HPO:probinson Urge incontinence is the strong, sudden need to urinate. @@ -2882,16 +4016,10 @@ - Urinary urgency - - - - - - orcid.org/0000-0002-0736-9199 Overactive bladder - layperson term + ORCID:0000-0002-0736-9199 + @@ -2935,25 +4063,25 @@ Underdeveloped uterus - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped uterus - HPO:probinson - Underdevelopment of the uterus. - - - - + ORCID:0000-0001-5208-3432 Small uterus - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Underdevelopment of the uterus. + + + @@ -3039,18 +4167,18 @@ human_phenotype Bladder diverticula - - Bladder diverticula - HPO:skoehler - - - Diverticulum (sac or pouch) in the wall of the urinary bladder. HPO:probinson + + HPO:skoehler + Bladder diverticula + + + @@ -3094,16 +4222,16 @@ human_phenotype - Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. HPO:sdoelken + Nycturia - + + Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. HPO:sdoelken - Nycturia - + @@ -3121,8 +4249,8 @@ Difficulty with flow + ORCID:0000-0001-5208-3432 Difficulty with flow - orcid.org/0000-0001-5208-3432 @@ -3154,13 +4282,6 @@ human_phenotype Loss of bladder control - - Loss of bladder control - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Loss of the ability to control the urinary bladder leading to involuntary urination. @@ -3168,6 +4289,13 @@ + + ORCID:0000-0001-5208-3432 + Loss of bladder control + + + + @@ -3292,18 +4420,18 @@ human_phenotype - - HPO:probinson - Protrusion of the contents of the abdominal cavity through the inguinal canal. - - - Inguinal hernia MEDDRA:10022016 + + HPO:probinson + Protrusion of the contents of the abdominal cavity through the inguinal canal. + + + @@ -3359,7 +4487,7 @@ Inflammation of the prostate - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -3434,19 +4562,19 @@ human_phenotype Decreased function of male gonad - - orcid.org/0000-0001-5208-3432 - Decreased function of male gonad - - - - Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. HPO:probinson + + Decreased function of male gonad + ORCID:0000-0001-5208-3432 + + + + @@ -3494,13 +4622,6 @@ human_phenotype Absent sperm in semen - - orcid.org/0000-0001-5208-3432 - Absent sperm in semen - - - - Absence of any measurable level of sperm in his semen. HPO:probinson @@ -3508,6 +4629,13 @@ + + ORCID:0000-0001-5208-3432 + Absent sperm in semen + + + + @@ -3547,9 +4675,10 @@ human_phenotype The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. Cryptorchism + Fyler:4493 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cryptorchism @@ -3560,6 +4689,12 @@ + + Undescended testes + + + + HPO:probinson Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis. @@ -3567,12 +4702,6 @@ - - Undescended testes - - - - @@ -3609,8 +4738,8 @@ Testicular degeneration + ORCID:0000-0001-5208-3432 Testicular degeneration - orcid.org/0000-0001-5208-3432 @@ -4275,9 +5404,10 @@ UMLS:C1691215 human_phenotype Hypospadia + Fyler:4504 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Hypospadia @@ -4326,6 +5456,13 @@ Scrotal cleft Cleft of scrotum + + ORCID:0000-0001-5208-3432 + Cleft of scrotum + + + + HPO:probinson Midline indentation or cleft of the scrotum. @@ -4333,13 +5470,6 @@ - - orcid.org/0000-0001-5208-3432 - Cleft of scrotum - - - - @@ -4407,14 +5537,14 @@ - orcid.org/0000-0001-5208-3432 - Underdeveloped male genitalia + Small male external genitalia - Small male external genitalia + ORCID:0000-0001-5208-3432 + Underdeveloped male genitalia @@ -4538,18 +5668,18 @@ Large testicles Large testis - - HPO:probinson - The presence of abnormally large testes. - - - Large testis + + HPO:probinson + The presence of abnormally large testes. + + + @@ -4592,7 +5722,7 @@ human_phenotype - Short penis + Small penis @@ -4605,7 +5735,7 @@ - Small penis + Short penis @@ -4646,18 +5776,18 @@ Abnormal female external genitalia - An abnormality of the female external genitalia. - HPO:probinson - - - - - HPO:skoehler Abnormal female external genitalia + HPO:skoehler + + An abnormality of the female external genitalia. + HPO:probinson + + + @@ -4693,8 +5823,8 @@ Abnormality of the clit + ORCID:0000-0001-5208-3432 Abnormality of the clit - http://orcid.org/0000-0001-5208-3432 @@ -4792,9 +5922,15 @@ human_phenotype Underdeveloped vaginal lips + + Small labia majora + + + + Underdeveloped vaginal lips - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -4805,12 +5941,6 @@ - - Small labia majora - - - - @@ -4849,18 +5979,18 @@ Underdeveloped clit - Developmental hypoplasia of the clitoris. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Underdeveloped clit + ORCID:0000-0001-5208-3432 + + Developmental hypoplasia of the clitoris. + HPO:probinson + + + Small clitoris @@ -4932,10 +6062,11 @@ Intersex genitalia - Ambiguous external genitalia + A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. + HPO:probinson + pmid:15102623 - - + Intersex genitalia @@ -4950,11 +6081,10 @@ - A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. - HPO:probinson - pmid:15102623 + Ambiguous external genitalia - + + @@ -5002,7 +6132,7 @@ Fused inner lips - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -5042,8 +6172,8 @@ Underdeveloped inner lips - orcid.org/0000-0001-5208-3432 Underdeveloped inner lips + ORCID:0000-0001-5208-3432 @@ -5084,15 +6214,15 @@ Enlargement of the labia - orcid.org/0000-0001-5208-3432 Enlargement of the vaginal lips + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlargement of the labia - orcid.org/0000-0001-5208-3432 @@ -5133,8 +6263,8 @@ Underdeveloped labia + ORCID:0000-0001-5208-3432 Underdeveloped labia - orcid.org/0000-0001-5208-3432 @@ -5318,8 +6448,8 @@ Narrowing of the ureter - orcid.org/0000-0001-5208-3432 Narrowing of the ureter + ORCID:0000-0001-5208-3432 @@ -5490,8 +6620,8 @@ + ORCID:0000-0001-5208-3432 Extra kidney - orcid.org/0000-0001-5208-3432 @@ -5517,6 +6647,7 @@ Ureteric reflux Vesicoureteric reflux human_phenotype + Fyler:4510 Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. @@ -5567,12 +6698,6 @@ human_phenotype Abnormal kidney - - An abnormality of the kidney. - HPO:probinson - - - Abnormality of the kidney @@ -5585,6 +6710,12 @@ + + An abnormality of the kidney. + HPO:probinson + + + Abnormal kidney @@ -5631,13 +6762,7 @@ human_phenotype - Abnormality of the reproductive system - - - - - - Genital anomalies + Genital abnormality @@ -5649,13 +6774,13 @@ - Genital abnormality + Abnormality of the reproductive system - + - Genital defects + Genital anomalies @@ -5666,6 +6791,12 @@ + + Genital defects + + + + @@ -5702,6 +6833,12 @@ Urinary tract anomalies human_phenotype + + An abnormality of the urinary system. + HPO:probinson + + + Urinary tract abnormality @@ -5714,12 +6851,6 @@ - - An abnormality of the urinary system. - HPO:probinson - - - Urinary tract abnormalities @@ -5770,7 +6901,7 @@ - Genital functional abnormality + Abnormality of reproductive system physiology @@ -5782,7 +6913,7 @@ - Abnormality of reproductive system physiology + Genital functional abnormality @@ -5874,18 +7005,18 @@ UMLS:C1839604 human_phenotype - - A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. - HPO:probinson - - - Renal failure in adulthood + + A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. + HPO:probinson + + + Renal failure @@ -5929,6 +7060,7 @@ UMLS:C0221353 human_phenotype Fused kidneys + Fyler:4507 Horseshoe kidney @@ -5936,18 +7068,18 @@ - - Horseshoe kidneys - - - - A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. HPO:probinson + + Horseshoe kidneys + + + + @@ -5987,7 +7119,8 @@ Abnormal kidney location - Displaced kidney + ORCID:0000-0001-5208-3432 + Abnormal kidney location @@ -5999,8 +7132,7 @@ - Abnormal kidney location - orcid.org/0000-0001-5208-3432 + Displaced kidney @@ -6048,14 +7180,14 @@ Underdeveloped kidneys - Small kidneys + ORCID:0000-0001-5208-3432 + Underdeveloped kidneys - Underdeveloped kidneys - orcid.org/0000-0001-5208-3432 + Small kidneys @@ -6224,18 +7356,18 @@ - HPO:probinson - Increased levels of protein in the urine. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High urine protein levels + + HPO:probinson + Increased levels of protein in the urine. + + + @@ -6398,12 +7530,6 @@ human_phenotype peter - - Tall stature - - - - A height above that which is expected according to age and gender norms. HPO:probinson @@ -6416,6 +7542,12 @@ + + Tall stature + + + + @@ -6526,18 +7658,18 @@ UMLS:C0032617 human_phenotype - - Increased urine output - - - - An increased rate of urine production. HPO:probinson + + Increased urine output + + + + @@ -6578,6 +7710,7 @@ UMLS:C0542519 human_phenotype Missing kidney + Fyler:4503 Agenesis, that is, failure of the kidney to develop during embryogenesis and development. @@ -6586,14 +7719,14 @@ - Absent kidney + Missing kidney + ORCID:0000-0001-6908-9849 - Missing kidney - orcid.org/0000-0001-6908-9849 + Absent kidney @@ -6638,12 +7771,6 @@ UMLS:C0542518 human_phenotype - - Large kidneys - - - - An abnormal increase in the size of the kidney. HPO:probinson @@ -6656,6 +7783,12 @@ + + Large kidneys + + + + @@ -6706,12 +7839,6 @@ human_phenotype Cystic kidneys - - A fluid filled sac in the kidney. - Eurenomics:fschaefer - - - HPO:skoehler Renal cysts @@ -6719,14 +7846,20 @@ - Cystic kidney disease + A fluid filled sac in the kidney. + Eurenomics:fschaefer + + + + + Cystic kidneys + HPO:skoehler - HPO:skoehler - Cystic kidneys + Cystic kidney disease @@ -6843,8 +7976,8 @@ + ORCID:0000-0001-6908-9849 Kidney damage - orcid.org/0000-0001-6908-9849 @@ -6894,6 +8027,7 @@ UMLS:C0022680 UMLS:C1567435 human_phenotype + Fyler:4508 HPO:probinson @@ -7084,8 +8218,8 @@ Increased calcium level in kidney + ORCID:0000-0001-5208-3432 Increased calcium level in kidney - orcid.org/0000-0001-5208-3432 @@ -7135,6 +8269,7 @@ Unilateral kidney agenesis human_phenotype Missing one kidney + Fyler:4509 Single kidney Absent kidney on one side @@ -7145,8 +8280,8 @@ - orcid.org/0000-0001-6908-9849 - Absent kidney on one side + Missing one kidney + ORCID:0000-0001-6908-9849 @@ -7158,8 +8293,8 @@ - orcid.org/0000-0001-6908-9849 - Missing one kidney + ORCID:0000-0001-6908-9849 + Absent kidney on one side @@ -7212,19 +8347,19 @@ human_phenotype Kidney inflammation - - orcid.org/0000-0001-6908-9849 - Kidney inflammation - - - - HPO:probinson The presence of inflammation affecting the kidney. + + ORCID:0000-0001-6908-9849 + Kidney inflammation + + + + @@ -7282,7 +8417,7 @@ - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Sacral kidney @@ -7302,6 +8437,7 @@ Severe distention of the kidney with dilation of the renal pelvis and calices. UMLS:C0020295 human_phenotype + Fyler:4502 HPO:probinson @@ -7392,13 +8528,13 @@ human_phenotype - Uterine abnormalities + Abnormality of the uterus - Abnormality of the uterus + Uterine malformations @@ -7410,7 +8546,7 @@ - Uterine malformations + Uterine abnormalities @@ -7492,7 +8628,7 @@ Abnormally heavy bleeding during menstruation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormally heavy bleeding during menstruation @@ -7634,19 +8770,19 @@ human_phenotype Decreased activity of gonads - - orcid.org/0000-0001-6908-9849 - Decreased activity of gonads - - - - A decreased functionality of the gonad. HPO:curators + + ORCID:0000-0001-6908-9849 + Decreased activity of gonads + + + + @@ -7727,10 +8863,10 @@ human_phenotype - Abnormality of the ovaries + Ovarian disease - + An abnormality of the ovary. @@ -7739,13 +8875,13 @@ - Ovarian disease + Abnormality of the ovary - + - Abnormality of the ovary + Abnormality of the ovaries @@ -7858,7 +8994,7 @@ - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Sagging uterus @@ -7907,18 +9043,18 @@ - - An abnormality of the ovulation cycle. - HPO:probinson - - - Menstrual abnormalities + + An abnormality of the ovulation cycle. + HPO:probinson + + + @@ -7954,14 +9090,14 @@ Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. - Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. pmid:22594864 + Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. + ORCID:0000-0001-5208-3432 Abnormal absence of menstruation - orcid.org/0000-0001-5208-3432 @@ -8049,18 +9185,18 @@ human_phenotype - - Rectovaginal fistula - MEDDRA:10051097 - - - HPO:probinson The presence of a fistula between the vagina and the rectum. + + Rectovaginal fistula + MEDDRA:10051097 + + + @@ -8077,14 +9213,14 @@ Abnormal fertility - Decreased fertility + HPO:skoehler + Abnormal fertility - HPO:skoehler - Abnormal fertility + Decreased fertility @@ -8370,10 +9506,10 @@ human_phenotype - An abnormality of head and neck. - HPO:probinson + Head and neck abnormality - + + Abnormality of head or neck @@ -8382,10 +9518,10 @@ - Head and neck abnormality + An abnormality of head and neck. + HPO:probinson - - + @@ -8432,14 +9568,14 @@ - Abnormality of the mouth + HPO:skoehler + Abnormal mouth - HPO:skoehler - Abnormal mouth + Abnormality of the mouth @@ -8489,13 +9625,13 @@ - orcid.org/0000-0001-5889-4463 - Large oral aperture + Broad mouth + - Broad mouth + Large mouth @@ -8507,15 +9643,15 @@ - Large mouth + Wide mouth - Wide mouth + ORCID:0000-0001-5889-4463 + Large oral aperture - @@ -8537,25 +9673,25 @@ - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Mouth ulcer - - Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. - HPO:probinson - - - Mouth sore - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. + HPO:probinson + + + @@ -8591,28 +9727,16 @@ UMLS:C0878638 human_phenotype Abnormal tongue - Glossal abnormality Lingual abnormality + Glossal abnormality - - Any abnormality of the tongue. - HPO:probinson - - - Abnormality of the tongue - - orcid.org/0000-0001-5889-4463 - Lingual abnormality - - - Tongue abnormality @@ -8620,15 +9744,27 @@ - Abnormal tongue HPO:skoehler + Abnormal tongue + Any abnormality of the tongue. + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 Glossal abnormality - orcid.org/0000-0001-5889-4463 + + + + + Lingual abnormality + ORCID:0000-0001-5889-4463 @@ -8681,17 +9817,11 @@ + ORCID:0000-0001-5889-4463 Lingual hyperplasia - orcid.org/0000-0001-5889-4463 - - Large tongue - - - - Increased length and width of the tongue. pmid:19125428 @@ -8699,27 +9829,33 @@ - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Glossal hypertrophy + + + + Lingual hypertrophy + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Abnormally large tongue + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Glossal hypertrophy + Large tongue - + + Increased size of tongue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -8763,12 +9899,6 @@ Malformation of lip Anomaly of lip - - An abnormality of the lip. - HPO:probinson - - - Lip abnormality @@ -8776,39 +9906,45 @@ - orcid.org/0000-0001-5889-4463 - Deformity of lip + ORCID:0000-0001-5889-4463 + Anomaly of lip - Abnormality of the lip + ORCID:0000-0001-5889-4463 + Deformity of lip - + - Abnormal lip HPO:skoehler + Abnormal lip - orcid.org/0000-0001-5889-4463 - Anomaly of lip + Abnormality of the lip - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Malformation of lip + + An abnormality of the lip. + HPO:probinson + + + @@ -8854,13 +9990,13 @@ - Small mouth + Narrow mouth - Narrow mouth + Small mouth @@ -8914,7 +10050,7 @@ - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Central cleft upper lip @@ -8962,16 +10098,16 @@ - orcid.org/0000-0001-5889-4463 - Lingual retraction + Retraction of the tongue + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Retraction of the tongue + Lingual retraction + ORCID:0000-0001-5889-4463 - @@ -8982,8 +10118,8 @@ - orcid.org/0000-0001-5889-4463 Posterior displacement of the tongue + ORCID:0000-0001-5889-4463 @@ -9084,16 +10220,17 @@ - Abnormal dentition + Dental problem - + - Dental problem + Dental abnormalities + - + Dental abnormality @@ -9102,7 +10239,7 @@ - Tooth abnormalities + Abnormality of the teeth @@ -9115,22 +10252,9 @@ - Dental abnormalities - - - - - - - Abnormal teeth + Tooth abnormalities - - - - Abnormality of the teeth - - @@ -9145,6 +10269,18 @@ + + Abnormal teeth + + + + + + Abnormal dentition + + + + @@ -9182,20 +10318,8 @@ Severe pyorrhea - orcid.org/0000-0001-5889-4463 - Severe periodontal disease - - - - - Severe pyorrhea - orcid.org/0000-0001-5889-4463 - - - - + ORCID:0000-0001-5889-4463 Severe gum disease - orcid.org/0000-0001-5889-4463 @@ -9206,6 +10330,18 @@ + + Severe pyorrhea + ORCID:0000-0001-5889-4463 + + + + + Severe periodontal disease + ORCID:0000-0001-5889-4463 + + + @@ -9250,7 +10386,7 @@ - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of the gums @@ -9312,6 +10448,12 @@ Hereditary gingival fibromatosis + + ORCID:0000-0001-5889-4463 + Hereditary gingival fibromatosis + + + HPO:probinson The presence of fibrosis of the gingiva. @@ -9320,7 +10462,7 @@ Idiopathic gingival hyperplasia - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -9330,12 +10472,6 @@ - - orcid.org/0000-0001-5889-4463 - Hereditary gingival fibromatosis - - - @@ -9387,15 +10523,15 @@ - orcid.org/0000-0001-5889-4463 - Underdevelopment of the tongue + Abnormally small tongue + ORCID:0000-0001-5889-4463 - Abnormally small tongue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of the tongue @@ -9444,22 +10580,22 @@ Abnormality of palatine uvula - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - - Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. - HPO:probinson - - - Abnormality of the uvula + + Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. + HPO:probinson + + + @@ -9497,21 +10633,21 @@ Abnormality of the roof of the mouth - - Any abnormality of the palate, i.e., of roof of the mouth. - HPO:probinson - - - Abnormality of the palate + + Any abnormality of the palate, i.e., of roof of the mouth. + HPO:probinson + + + Abnormality of the roof of the mouth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -9558,27 +10694,27 @@ Cleft hard and soft palate Cleft of hard and soft palate Palatoschisis + Fyler:4876 Uranostaphyloschisis Cleft of palate - Facebase Cleft of palate + Facebase - http://orcid.org/0000-0001-5889-4463 - http://orcid.org/0000-0001-5208-3432 - Cleft hard and soft palate + ORCID:0000-0001-5889-4463 + Uranostaphyloschisis - Uranostaphyloschisis - orcid.org/0000-0001-5889-4463 + Cleft palate + @@ -9588,21 +10724,22 @@ - Cleft of hard and soft palate - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5889-4463 + Palatoschisis + ORCID:0000-0001-5889-4463 - Cleft palate + Cleft hard and soft palate + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - - Palatoschisis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cleft of hard and soft palate + ORCID:0000-0001-5208-3432 @@ -9647,12 +10784,6 @@ human_phenotype Partial thickness cleft hard palate - - orcid.org/0000-0001-5889-4463 - Partial thickness cleft hard palate - - - HPO:probinson Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. @@ -9660,6 +10791,12 @@ + + Partial thickness cleft hard palate + ORCID:0000-0001-5889-4463 + + + @@ -9699,37 +10836,37 @@ - orcid.org/0000-0001-5889-4463 - Malformation of the upper lip + ORCID:0000-0001-5889-4463 + Deformity of the upper lip - An abnormality of the upper lip. - HPO:probinson + Abnormality of upper lip - + + + ORCID:0000-0001-5889-4463 Anomaly of the upper lip - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deformity of the upper lip + Malformation of the upper lip + ORCID:0000-0001-5889-4463 - Abnormality of upper lip + An abnormality of the upper lip. + HPO:probinson - - + @@ -9770,37 +10907,37 @@ - An abnormality of the lower lip. - HPO:probinson + Abnormality of lower lip - + + + ORCID:0000-0001-5889-4463 Deformity of the lower lip - orcid.org/0000-0001-5889-4463 - Anomaly of the lower lip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of the lower lip - orcid.org/0000-0001-5889-4463 - Malformation of the lower lip + An abnormality of the lower lip. + HPO:probinson - - + - Abnormality of lower lip + ORCID:0000-0001-5889-4463 + Anomaly of the lower lip - + @@ -9851,17 +10988,17 @@ Prominent lower lip vermilion - orcid.org/0000-0001-5889-4463 - Thick red part of the lower lip + ORCID:0000-0001-5889-4463 + Plump lower lip - + - Full lower lip vermilion - orcid.org/0000-0001-5889-4463 + Thick lower lip - + + Prominent lower lip @@ -9870,42 +11007,43 @@ - Increased volume of lower lip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased height of lower lip vermilion - - Increased volume of lower lip vermilion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Prominent lower lip vermilion - + - orcid.org/0000-0001-5889-4463 - Plump lower lip + Thick red part of the lower lip + ORCID:0000-0001-5889-4463 - + - Increased height of lower lip vermilion - orcid.org/0000-0001-5889-4463 + Increased volume of lower lip + ORCID:0000-0001-5889-4463 + - Prominent lower lip vermilion - orcid.org/0000-0001-5889-4463 + HPO:curators + Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). + pmid:19125428 - + - Thick lower lip + Increased volume of lower lip vermilion + ORCID:0000-0001-5889-4463 - - + Full lower lip @@ -9914,11 +11052,10 @@ - HPO:curators - Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). - pmid:19125428 + ORCID:0000-0001-5889-4463 + Full lower lip vermilion - + @@ -9940,15 +11077,8 @@ - Bumpy tongue - orcid.org/0000-0001-5889-4463 - - - - - + ORCID:0000-0001-5889-4463 Lingual lobules - orcid.org/0000-0001-5889-4463 @@ -9958,6 +11088,13 @@ + + Bumpy tongue + ORCID:0000-0001-5889-4463 + + + + @@ -9973,15 +11110,15 @@ Abnormality of lingual movement - Movement abnormality of the tongue + ORCID:0000-0001-5889-4463 + Abnormality of lingual movement - - orcid.org/0000-0001-5889-4463 - Abnormality of lingual movement + Movement abnormality of the tongue + @@ -10002,22 +11139,22 @@ Hypokinesia of the tongue - Difficulty in lingual movements - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypokinesia of the tongue - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Lingual hypokinesia - Hypokinesia of the tongue - orcid.org/0000-0001-5889-4463 + Difficulty in lingual movements + ORCID:0000-0001-5889-4463 - + Difficulty in tongue movements @@ -10065,28 +11202,28 @@ Cleft velum - Cleft muscular palate - orcid.org/0000-0001-5889-4463 + Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. + HPO:curators - + + ORCID:0000-0001-5208-3432 Cleft of soft palate - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 Cleft velum - orcid.org/0000-0001-5889-4463 - Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. - HPO:curators + ORCID:0000-0001-5889-4463 + Cleft muscular palate - + @@ -10128,27 +11265,27 @@ Wide gum ridges - orcid.org/0000-0001-5889-4463 - Wide gum ridges + ORCID:0000-0001-5889-4463 + Wide alveolar margins - - orcid.org/0000-0001-5889-4463 - Wide alveolar margins + Broad alveolar processes of jaw + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Wide alveolar processes of jaw + ORCID:0000-0001-5889-4463 + Wide gum ridges + - orcid.org/0000-0001-5889-4463 - Broad alveolar processes of jaw + ORCID:0000-0001-5889-4463 + Wide alveolar processes of jaw @@ -10194,53 +11331,53 @@ Decreased upper labial height - Decreased vertical length of upper lip - orcid.org/0000-0001-5889-4463 + Decreased width of the upper lip. + HPO:probinson - - + - Decreased height of upper lip - orcid.org/0000-0001-5889-4463 + Short upper lip - orcid.org/0000-0001-5889-4463 - Vertical deficiency of upper lip + ORCID:0000-0001-5889-4463 + Decreased upper labial length - Short upper lip + Shortening of upper lip + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Shortening of upper lip + Vertical deficiency of upper lip + ORCID:0000-0001-5889-4463 - - Decreased width of the upper lip. - HPO:probinson + ORCID:0000-0001-5889-4463 + Decreased height of upper lip - + + - orcid.org/0000-0001-5889-4463 - Decreased upper labial height + ORCID:0000-0001-5889-4463 + Decreased vertical length of upper lip + - Decreased upper labial length - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased upper labial height @@ -10284,34 +11421,34 @@ - Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). - pmid:19125428 + Narrow palate - + + + ORCID:0000-0001-5889-4463 Decreased palatal width - orcid.org/0000-0001-5889-4463 - Narrow palate + Decreased transverse dimension of palate + ORCID:0000-0001-5889-4463 - - Narrow roof of mouth - orcid.org/0000-0001-5889-4463 + Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). + pmid:19125428 - - + - Decreased transverse dimension of palate - orcid.org/0000-0001-5889-4463 + Narrow roof of mouth + ORCID:0000-0001-5889-4463 + @@ -10350,6 +11487,12 @@ A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. Abnormality of oral frenum + + ORCID:0000-0001-5889-4463 + Abnormality of oral frenum + + + An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. HPO:probinson @@ -10357,12 +11500,6 @@ - - Abnormality of oral frenum - orcid.org/0000-0001-5889-4463 - - - @@ -10386,25 +11523,25 @@ Supernumerary oral frenum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Extra oral frenum - + - orcid.org/0000-0001-5889-4463 - Extra oral frenum + Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. + pmid:19125428 - + Accessory oral frenum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -10450,8 +11587,8 @@ + ORCID:0000-0001-5889-4463 Forked uvula - orcid.org/0000-0001-5889-4463 @@ -10462,14 +11599,14 @@ - Bifid palatine uvula - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Split uvula - Split uvula - orcid.org/0000-0001-5889-4463 + Bifid palatine uvula + ORCID:0000-0001-5889-4463 @@ -10513,7 +11650,7 @@ Gaped jawed appearance - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Gaped mouthed appearance @@ -10527,13 +11664,19 @@ Gaped jawed appearance - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + A facial appearance characterized by a permanently or nearly permanently opened mouth. + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 Slack jawed appearance @@ -10546,12 +11689,6 @@ - - A facial appearance characterized by a permanently or nearly permanently opened mouth. - HPO:probinson - - - @@ -10609,16 +11746,16 @@ Anomaly of the parotid gland - Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. - HPO:curators + ORCID:0000-0001-5889-4463 + Anomaly of the parotid gland - + - orcid.org/0000-0001-5889-4463 - Anomaly of the parotid gland + Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. + HPO:curators - + @@ -10642,44 +11779,44 @@ Agenesis of parotid duct - Failure of development of stensen duct - orcid.org/0000-0001-5889-4463 + Agenesis of parotid duct + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Absence of parotid duct + Failure of development of stensen duct + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Agenesis of parotid duct + ORCID:0000-0001-5889-4463 + Agenesis of stensen duct - orcid.org/0000-0001-5889-4463 - Missing parotid duct + ORCID:0000-0001-5889-4463 + Failure of development of parotid duct - orcid.org/0000-0001-5889-4463 - Missing stensen duct + Missing parotid duct + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Agenesis of stensen duct + ORCID:0000-0001-5889-4463 + Absence of parotid duct - + - Failure of development of parotid duct - orcid.org/0000-0001-5889-4463 + Missing stensen duct + ORCID:0000-0001-5889-4463 @@ -10697,8 +11834,8 @@ Lingual nodules + ORCID:0000-0001-5889-4463 Lingual nodules - orcid.org/0000-0001-5889-4463 @@ -10747,58 +11884,58 @@ Hypoplasia of tongue frenum - Short tongue frenum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypoplasia of tongue frenum - + - orcid.org/0000-0001-5889-4463 - Deficiency of lingual frenulum + Short tongue frenum + ORCID:0000-0001-5889-4463 - Hypoplasia of tongue frenulum - orcid.org/0000-0001-5889-4463 + Hypoplasia of lingual frenulum + ORCID:0000-0001-5889-4463 - HPO:probinson - The presence of an abnormally short lingual frenulum. + Hypoplasia of lingual frenum + ORCID:0000-0001-5889-4463 - + - Hypoplasia of tongue frenum - orcid.org/0000-0001-5889-4463 + Hypoplasia of tongue frenulum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hypoplasia of lingual frenulum + Deficiency of lingual frenulum + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Short lingual frenum + Tight lingual frenulum + ORCID:0000-0001-5889-4463 - Tight lingual frenulum - orcid.org/0000-0001-5889-4463 + Short lingual frenum + ORCID:0000-0001-5889-4463 - Hypoplasia of lingual frenum - orcid.org/0000-0001-5889-4463 + HPO:probinson + The presence of an abnormally short lingual frenulum. - + @@ -10849,28 +11986,28 @@ Pierre-robin malformation - Pierre-robin malformation - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pierre-robin anomaly - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Pierre-robin deformity - HPO:probinson - Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. + ORCID:0000-0001-5889-4463 + Pierre-robin malformation - + - Pierre-robin anomaly - orcid.org/0000-0001-5889-4463 + HPO:probinson + Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. - + @@ -10894,7 +12031,7 @@ Cleft of the mouth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -10944,25 +12081,26 @@ human_phenotype Harelip Cheiloschisis of upper lip + Fyler:4875 - Harelip - orcid.org/0000-0001-5889-4463 + Cleft upper lip - Cleft upper lip + Harelip + ORCID:0000-0001-5889-4463 - A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. - HPO:probinson + Cheiloschisis of upper lip + ORCID:0000-0001-5889-4463 - + Cleft of upper lip @@ -10971,10 +12109,10 @@ - Cheiloschisis of upper lip - orcid.org/0000-0001-5889-4463 + A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. + HPO:probinson - + @@ -10992,8 +12130,8 @@ Tightly closed lips + ORCID:0000-0001-5889-4463 Tightly closed lips - orcid.org/0000-0001-5889-4463 @@ -11030,10 +12168,9 @@ - Inflammation of the tongue - orcid.org/0000-0001-5889-4463 + Lingual inflammation + ORCID:0000-0001-5889-4463 - @@ -11043,14 +12180,15 @@ - orcid.org/0000-0001-5889-4463 - Lingual inflammation + ORCID:0000-0001-5889-4463 + Smooth swollen tongue + - orcid.org/0000-0001-5889-4463 - Smooth swollen tongue + ORCID:0000-0001-5889-4463 + Inflammation of the tongue @@ -11092,13 +12230,7 @@ Triangular shaped oral aperture - Triangular shaped mouth - - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Triangular shaped oral aperture @@ -11115,6 +12247,12 @@ + + Triangular shaped mouth + + + + @@ -11140,100 +12278,100 @@ Decrease in jaw movement Decrease in mandibular opening Decrease in jaw mobility - Limited mandibular opening Limited jaw mobility + Limited mandibular opening Limited jaw opening Pain of muscles of mastication Decrease in jaw opening - orcid.org/0000-0001-5889-4463 - Limited mandibular opening + Decrease in mandibular movement + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decrease in jaw opening + ORCID:0000-0001-5889-4463 + Decrease in jaw movement - Pain of muscles of mastication - orcid.org/0000-0001-5889-4463 + HPO:curators + Limitation in the ability to open the mouth. - + - Limited mandibular mobility - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decrease in mandibular mobility - Limited jaw opening - orcid.org/0000-0001-5889-4463 + Pain of muscles of mastication + ORCID:0000-0001-5889-4463 - - + - HPO:curators - Limitation in the ability to open the mouth. + ORCID:0000-0001-5889-4463 + Limited mandibular mobility - + - Limited mouth opening + Decrease in jaw mobility + ORCID:0000-0001-5889-4463 - Limited jaw mobility - orcid.org/0000-0001-5889-4463 + Limited jaw opening + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decrease in mandibular mobility + Limited mandibular opening + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decrease in mandibular movement + Limited jaw mobility + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Limited jaw movement + ORCID:0000-0001-5889-4463 + Decrease in mandibular opening - - orcid.org/0000-0001-5889-4463 - Decrease in jaw mobility + ORCID:0000-0001-5889-4463 + Limited jaw movement - Decrease in jaw movement - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decrease in jaw opening - orcid.org/0000-0001-5889-4463 - Decrease in mandibular opening + Limited mouth opening + @@ -11287,8 +12425,8 @@ - orcid.org/0000-0001-5889-4463 Gum enlargement + ORCID:0000-0001-5889-4463 @@ -11300,8 +12438,8 @@ - orcid.org/0000-0001-5889-4463 Gingival enlargement + ORCID:0000-0001-5889-4463 @@ -11358,42 +12496,42 @@ Angioectasias of the lip - HPO:probinson - Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. - - - - - HPO:skoehler - Telangiectasia of the lips - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Spider veins of the lip - orcid.org/0000-0001-5889-4463 - Angioectasias of the lip + ORCID:0000-0001-5889-4463 + Labial angioectasias - orcid.org/0000-0001-5889-4463 + HPO:probinson + Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. + + + + + ORCID:0000-0001-5889-4463 Labial telangiectasia - Labial angioectasias - orcid.org/0000-0001-5889-4463 + Angioectasias of the lip + ORCID:0000-0001-5889-4463 + + HPO:skoehler + Telangiectasia of the lips + + + @@ -11444,74 +12582,74 @@ Full upper lip vermilion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Thick red part of the upper lip + ORCID:0000-0001-5889-4463 + Increased volume of upper lip - + - Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). - pmid:19125428 + HPO:sdoelken + Thick upper lip - + + - orcid.org/0000-0001-5889-4463 - Increased height of upper lip vermilion + ORCID:0000-0001-5889-4463 + Prominent upper lip vermilion - + - Increased volume of upper lip - orcid.org/0000-0001-5889-4463 + Prominent upper lip - orcid.org/0000-0001-5889-4463 Increased volume of upper lip vermilion + ORCID:0000-0001-5889-4463 Plump upper lip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Prominent upper lip vermilion + Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). + pmid:19125428 - + - Prominent upper lip + ORCID:0000-0001-5889-4463 + Full upper lip - HPO:sdoelken - Thick upper lip + ORCID:0000-0001-5889-4463 + Increased height of upper lip vermilion - - Full upper lip - orcid.org/0000-0001-5889-4463 + Thick red part of the upper lip + ORCID:0000-0001-5889-4463 - + @@ -11591,35 +12729,35 @@ - orcid.org/0000-0001-5889-4463 - Decreased salivary flow + Dry mouth syndrome - + - Dryness of the mouth due to salivary gland dysfunction. - HPO:probinson + Dry mouth - + + - Reduced salivation + ORCID:0000-0001-5889-4463 + Decreased salivary flow - + - Dry mouth + Reduced salivation - Dry mouth syndrome + Dryness of the mouth due to salivary gland dysfunction. + HPO:probinson - - + @@ -11667,17 +12805,18 @@ applied inaccurately. Elevated palate + ORCID:0000-0001-5889-4463 Increased palatal height - orcid.org/0000-0001-5889-4463 - Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). - pmid:19125428 + Elevated palate + ORCID:0000-0001-5889-4463 - + + High palate @@ -11686,11 +12825,10 @@ applied inaccurately. - Elevated palate - orcid.org/0000-0001-5889-4463 + Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). + pmid:19125428 - - + @@ -11738,48 +12876,48 @@ applied inaccurately. - Decreased volume of upper lip - orcid.org/0000-0001-5889-4463 + HPO:skoehler + Thin upper lips - + - Decreased height of upper lip vermilion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased volume of upper lip vermilion Thin red part of the upper lip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Decreased volume of upper lip vermilion - orcid.org/0000-0001-5889-4463 + HPO:skoehler + Thin upper lip + - HPO:skoehler - Thin upper lip + Decreased volume of upper lip + ORCID:0000-0001-5889-4463 - - Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). - pmid:19125428 + Decreased height of upper lip vermilion + ORCID:0000-0001-5889-4463 - + - HPO:skoehler - Thin upper lips + Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). + pmid:19125428 - + @@ -11802,10 +12940,10 @@ applied inaccurately. Velopharyngeal dysfunction - DDD:jhurst - Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. + ORCID:0000-0001-5889-4463 + Velopharyngeal dysfunction - + Velopharyngeal incompetence @@ -11814,10 +12952,10 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Velopharyngeal dysfunction + DDD:jhurst + Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. - + @@ -11864,39 +13002,39 @@ applied inaccurately. + Fissured tongue HPO:skoehler - Lingue plicata - HPO:skoehler - Fissured tongue + ORCID:0000-0001-5889-4463 + Lingual furrow - Grooved tongue - orcid.org/0000-0001-5889-4463 + Accentuation of the grooves on the dorsal surface of the tongue. + pmid:19125428 - - + - orcid.org/0000-0001-5889-4463 - Lingual furrow + HPO:skoehler + Plicated tongue - Accentuation of the grooves on the dorsal surface of the tongue. - pmid:19125428 + Grooved tongue + ORCID:0000-0001-5889-4463 - + + - Plicated tongue HPO:skoehler + Lingue plicata @@ -11981,7 +13119,7 @@ applied inaccurately. Lost taste - Decreased taste + Lost taste @@ -11993,7 +13131,7 @@ applied inaccurately. - Lost taste + Decreased taste @@ -12048,12 +13186,6 @@ applied inaccurately. Gingivorrhagia Bleeding gums - - orcid.org/0000-0001-5889-4463 - Gingival hemorrhage - - - HPO:ibailleulforestier Hemorrhage affecting the gingiva. @@ -12061,8 +13193,14 @@ applied inaccurately. + Gingival hemorrhage + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 Bleeding gums - orcid.org/0000-0001-5889-4463 @@ -12117,35 +13255,35 @@ applied inaccurately. Lingual angioectasias - orcid.org/0000-0001-5889-4463 Lingual telangiectasia + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Spider veins of the tongue + ORCID:0000-0001-5889-4463 + Angioectasias of the tongue - - orcid.org/0000-0001-5889-4463 - Angioectasias of the tongue + ORCID:0000-0001-5889-4463 + Lingual angioectasias - HPO:probinson - Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. + Spider veins of the tongue + ORCID:0000-0001-5889-4463 - + + - Lingual angioectasias - orcid.org/0000-0001-5889-4463 + HPO:probinson + Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. - + @@ -12174,28 +13312,28 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Spider veins of the oral cavity + Spider veins of the mouth + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Angioectasias of the mouth + Spider veins of the oral cavity + ORCID:0000-0001-5889-4463 - Angioectasias of the oral cavity - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Angioectasias of the mouth - Spider veins of the mouth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Angioectasias of the oral cavity - @@ -12254,21 +13392,21 @@ applied inaccurately. - Gingival inflammation - orcid.org/0000-0001-5889-4463 + Red and swollen gums + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Inflamed gums + Gingival inflammation + ORCID:0000-0001-5889-4463 - - Red and swollen gums - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Inflamed gums @@ -12323,8 +13461,14 @@ applied inaccurately. + Drooping lower lip + + + + + + ORCID:0000-0001-5889-4463 Outward turned lower lip - orcid.org/0000-0001-5889-4463 @@ -12336,9 +13480,9 @@ applied inaccurately. - Drooping lower lip + ORCID:0000-0001-5889-4463 + Eclabium of lower lip - @@ -12347,12 +13491,6 @@ applied inaccurately. - - Eclabium of lower lip - orcid.org/0000-0001-5889-4463 - - - @@ -12375,16 +13513,15 @@ applied inaccurately. Decreased volume of lip - orcid.org/0000-0001-5889-4463 - Decreased volume of lip + Thin lips - Thin lips + Decreased volume of lip vermillion + ORCID:0000-0001-5889-4463 - @@ -12400,9 +13537,10 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Decreased volume of lip vermillion + Decreased volume of lip + ORCID:0000-0001-5889-4463 + @@ -12448,7 +13586,7 @@ applied inaccurately. - Abnormality of the head + Head abnormality @@ -12461,7 +13599,7 @@ applied inaccurately. - Head abnormality + Abnormality of the head @@ -12549,18 +13687,18 @@ applied inaccurately. Abnormality of the forehead soft spot - An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. - HPO:curators - - - - + ORCID:0000-0001-5889-4463 Abnormality of the forehead soft spot - orcid.org/0000-0001-5889-4463 + + An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. + HPO:curators + + + @@ -12597,16 +13735,16 @@ applied inaccurately. Small forehead fontanel - Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. - HPO:probinson + Small forehead fontanel + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Small forehead fontanel + Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. + HPO:probinson - + @@ -12715,6 +13853,12 @@ applied inaccurately. Large bregma sutures Persistent wide fontanel + + Large, late-closing fontanelle + ORCID:0000-0001-5889-4463 + + + HPO:probinson In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. @@ -12722,27 +13866,21 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Large bregma sutures Wide fontanelles - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Large, late-closing fontanelle - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 Wide bregma sutures + ORCID:0000-0001-5889-4463 @@ -12782,13 +13920,6 @@ applied inaccurately. Abnormality of head size Abnormality of cranium size - - orcid.org/0000-0001-5889-4463 - Abnormality of head size - - - - Any abnormality of the size of the skull. HPO:curators @@ -12796,7 +13927,7 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of cranium size @@ -12807,6 +13938,13 @@ applied inaccurately. + + ORCID:0000-0001-5889-4463 + Abnormality of head size + + + + @@ -12895,47 +14033,47 @@ applied inaccurately. + ORCID:0000-0001-5889-4463 Wedge shaped skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Wedge shaped cranium - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Wedge shaped head + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Triangular skull shape + Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. + pmid:19125436 - - + + ORCID:0000-0001-5889-4463 Triangular head shape - orcid.org/0000-0001-5889-4463 - Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. - pmid:19125436 + ORCID:0000-0001-5889-4463 + Triangular skull shape - + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Triangular cranium shape @@ -12990,24 +14128,24 @@ applied inaccurately. Abnormality of the sinuses of the head + ORCID:0000-0001-5889-4463 Abnormality of the sinuses of the head - orcid.org/0000-0001-5889-4463 - - Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. - HPO:curators - - - Abnormality of the sinuses + + Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. + HPO:curators + + + @@ -13062,30 +14200,30 @@ applied inaccurately. - Sinus infection + ORCID:0000-0001-5889-4463 + Sinus disease - + Sinus inflammation - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - HPO:probinson - Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. + Sinus infection - + + - orcid.org/0000-0001-5889-4463 - Sinus disease + HPO:probinson + Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. - - + @@ -13136,25 +14274,19 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Wide skull shape - orcid.org/0000-0001-5889-4463 Wide head shape + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Wide cranium shape - - - An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. HPO:probinson @@ -13162,23 +14294,29 @@ applied inaccurately. + + ORCID:0000-0001-5889-4463 + Wide cranium shape + + + Broad head shape - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Broad skull shape + ORCID:0000-0001-5889-4463 Broad cranium shape - orcid.org/0000-0001-5889-4463 @@ -13217,19 +14355,19 @@ applied inaccurately. human_phenotype Dense skull cap - - orcid.org/0000-0001-5889-4463 - Dense skull cap - - - - An abnormal increase of density of the bones making up the calvaria. HPO:curators + + ORCID:0000-0001-5889-4463 + Dense skull cap + + + + @@ -13257,6 +14395,7 @@ applied inaccurately. Decreased circumference of cranium Small skull Abnormally small head + Fyler:4310 Small head Abnormally small skull Decreased size of skull @@ -13265,93 +14404,93 @@ applied inaccurately. - HPO:orcid.org/0000-0001-5889-4463 - Small head + ORCID:0000-0001-5889-4463 + Abnormally small head - small calvarium - HPO:orcid.org/0000-0001-5889-4463 + Decreased size of cranium + ORCID:0000-0001-5889-4463 - small cranium - HPO:orcid.org/0000-0001-5889-4463 + Decreased size of skull + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Decreased size of cranium + Small head circumference + - Reduced head circumference + ORCID:0000-0001-5889-4463 + Abnormally small cranium - - HPO:orcid.org/0000-0001-5889-4463 - Decreased circumference of cranium + Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. + pmid:19125436 + pmid:9683597 - - + - Abnormally small skull - hpo:orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small skull - + - Small head circumference + small calvarium + ORCID:0000-0001-5889-4463 - - Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. - pmid:19125436 - pmid:9683597 + small cranium + ORCID:0000-0001-5889-4463 - + - hpo:orcid.org/0000-0001-5889-4463 - Abnormally small cranium + ORCID:0000-0001-5889-4463 + Small head - + + - hpo:orcid.org/0000-0001-5889-4463 - Abnormally small head + Decreased circumference of cranium + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Decreased size of head + Reduced head circumference - + - orcid.org/0000-0001-5889-4463 - Decreased size of skull + Abnormally small skull + ORCID:0000-0001-5889-4463 - HPO:orcid.org/0000-0001-5889-4463 - Small skull + ORCID:0000-0001-5889-4463 + Decreased size of head @@ -13397,13 +14536,6 @@ applied inaccurately. Progressively abnormally small skull Progressively abnormally small cranium - - orcid.org/0000-0001-5889-4463 - Progressively abnormally small cranium - - - - HPO:skoehler Microcephaly, progressive @@ -13411,8 +14543,8 @@ applied inaccurately. + ORCID:0000-0001-5889-4463 Progressively abnormally small skull - orcid.org/0000-0001-5889-4463 @@ -13423,6 +14555,13 @@ applied inaccurately. + + Progressively abnormally small cranium + ORCID:0000-0001-5889-4463 + + + + @@ -13487,8 +14626,9 @@ applied inaccurately. Increased size of cranium HP:0200135 Large skull - Megacephaly Large calvaria + Megacephaly + Fyler:4335 Increased size of skull Big calvaria Big head @@ -13499,77 +14639,78 @@ applied inaccurately. - Increased size of skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Big head + + + + Increased size of cranium + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Large calvaria + ORCID:0000-0001-5889-4463 + Large skull + - Big calvaria - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased size of head - orcid.org/0000-0001-5889-4463 - Large skull + Big calvaria + ORCID:0000-0001-5889-4463 - Increased size of cranium - orcid.org/0000-0001-5889-4463 + Megacephaly + ORCID:0000-0001-5208-3432 - Large head + Large head circumference - Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. - pmid:19125436 - - - - - Megacephaly - orcid.org/0000-0001-5208-3432 + Large head + - orcid.org/0000-0001-5889-4463 - Large cranium + Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. + pmid:19125436 - + - Large head circumference + ORCID:0000-0001-5889-4463 + Increased size of skull - orcid.org/0000-0001-5889-4463 - Big head + ORCID:0000-0001-5889-4463 + Large calvaria - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Big skull @@ -13577,16 +14718,15 @@ applied inaccurately. Big cranium - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Increased size of head - orcid.org/0000-0001-5889-4463 + Large cranium + ORCID:0000-0001-5889-4463 - @@ -13630,18 +14770,18 @@ applied inaccurately. Wide open anterior fontanelle human_phenotype - - HPO:skoehler - Large anterior fontanels - - - Enlargement of the anterior fontanelle with respect to age-dependent norms. HPO:curators + + HPO:skoehler + Large anterior fontanels + + + @@ -13666,43 +14806,43 @@ applied inaccurately. - Tall head relative to width and length. - pmid:19125436 + ORCID:0000-0001-5889-4463 + Tall shaped skull - + + - orcid.org/0000-0001-5889-4463 - Tall shaped cranium + Tower cranium shape + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Tall shaped skull + ORCID:0000-0001-5889-4463 + Tower skull shape - Tower cranium shape - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Tall shaped cranium Tall shaped head - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Tower skull shape + Tall head relative to width and length. + pmid:19125436 - - + @@ -13862,74 +15002,74 @@ applied inaccurately. Abnormality of cranium shape - orcid.org/0000-0001-5889-4463 - Malformation of head shape + Asymmetry of cranium + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Cranial vault asymmetry + Asymmetry of the bones of the skull. + HPO:curators - + - orcid.org/0000-0001-5889-4463 - Abnormality of head shape + Malformation of head shape + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of cranium shape + ORCID:0000-0001-5889-4463 + Abnormality of head shape + - Asymmetry of cranium - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Uneven head shape - + + - Abnormality of cranial vault shape - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cranial vault asymmetry - + Asymmetry of head - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Malformation of cranium shape - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of cranial vault shape - orcid.org/0000-0001-5889-4463 - Malformation of cranial vault shape + ORCID:0000-0001-5889-4463 + Abnormality of cranial vault shape - Uneven head shape - orcid.org/0000-0001-5889-4463 + Malformation of cranium shape + ORCID:0000-0001-5889-4463 - - + - Asymmetry of the bones of the skull. - HPO:curators + ORCID:0000-0001-5889-4463 + Abnormality of cranium shape - + @@ -13973,30 +15113,31 @@ applied inaccurately. UMLS:C4280655 UMLS:C4280656 human_phenotype + Long, narrow head Narrow skull shape Narrow cranium shape Narrow head shape - Narrow skull shape - orcid.org/0000-0001-5889-4463 + Narrow cranium shape + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Narrow head shape + ORCID:0000-0001-5889-4463 + Narrow skull shape - Narrow cranium shape - orcid.org/0000-0001-5889-4463 + Long, narrow head + ORCID:0000-0002-6548-5200 - + + An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. @@ -14005,6 +15146,13 @@ applied inaccurately. + + ORCID:0000-0001-5889-4463 + Narrow head shape + + + + @@ -14050,48 +15198,41 @@ applied inaccurately. - Prominent posterior cranium - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 Protruding occiput + ORCID:0000-0001-5889-4463 - Prominent posterior head - orcid.org/0000-0001-5889-4463 + Prominent back of the skull + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Prominent posterior skull - Protruding back of the head - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Prominent posterior cranium - - + - Prominent back of the skull - orcid.org/0000-0001-5889-4463 + Prominent posterior head + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 Prominent back of the head + ORCID:0000-0001-5889-4463 @@ -14102,6 +15243,13 @@ applied inaccurately. + + Protruding back of the head + ORCID:0000-0001-5889-4463 + + + + @@ -14151,10 +15299,10 @@ applied inaccurately. Delayed closure of fontanels - Delayed cranial suture closure + HPO:probinson + Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. - - + HPO:skoehler @@ -14163,10 +15311,10 @@ applied inaccurately. - HPO:probinson - Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. + Delayed cranial suture closure - + + @@ -14175,26 +15323,6 @@ applied inaccurately. Abnormality of the face - - - - - - - - - - - - - - - - - - - - @@ -14235,41 +15363,42 @@ applied inaccurately. Anomaly of face Abnormal face Disorder of the face - Abnormality of the visage Disorder of face + Abnormality of the visage - orcid.org/0000-0001-5889-4463 - Facial anomaly + An abnormality of the face. + HPO:probinson - + - orcid.org/0000-0001-5889-4463 - Abnormality of the visage + ORCID:0000-0001-5889-4463 + Abnormality of the countenance - Facial abnormality - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Disorder of face - + - orcid.org/0000-0001-5889-4463 - Anomaly of the face + ORCID:0000-0001-5889-4463 + Disorder of the face - + + - orcid.org/0000-0001-5889-4463 - Disorder of face + HPO:skoehler + Abnormal face - + Abnormality of the face @@ -14278,42 +15407,41 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Abnormality of the physiognomy + ORCID:0000-0001-5889-4463 + Anomaly of face - + - orcid.org/0000-0001-5889-4463 - Abnormality of the countenance + ORCID:0000-0001-5889-4463 + Abnormality of the visage - HPO:skoehler - Abnormal face + Anomaly of the face + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Anomaly of face + ORCID:0000-0001-5889-4463 + Abnormality of the physiognomy - + - Disorder of the face - orcid.org/0000-0001-5889-4463 + Facial anomaly + ORCID:0000-0001-5889-4463 - - + - An abnormality of the face. - HPO:probinson + Facial abnormality + ORCID:0000-0001-5889-4463 - + + @@ -14366,43 +15494,43 @@ applied inaccurately. Decreased size of malar bone - - orcid.org/0000-0001-5889-4463 - Zygomatic flattening - - - - HPO:probinson Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. pmid:19125436 - HPO:orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + Decreased size of malar bone + ORCID:0000-0001-5889-4463 + + + The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased size of malar bone + Underdevelopment of malar bone + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypotrophic malar bone - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Underdevelopment of malar bone + ORCID:0000-0001-5889-4463 + Zygomatic flattening + @@ -14467,23 +15595,30 @@ applied inaccurately. Microfacies - orcid.org/0000-0001-5889-4463 - Microface + ORCID:0000-0001-5889-4463 + Short and narrow face + - orcid.org/0000-0001-5889-4463 - Hypoplasia of face + Facial hypoplasia + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Microfacies - orcid.org/0000-0001-5889-4463 + + Small face + + + + A face that is short (HP:0011219) and narrow (HP:0000275). HP:probinson @@ -14491,27 +15626,20 @@ applied inaccurately. - Facial hypoplasia - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Microface - Short and narrow face - orcid.org/0000-0001-5889-4463 + Hypoplasia of face + ORCID:0000-0001-5889-4463 - Small facies - orcid.org/0000-0001-5889-4463 - - - - - - Small face + ORCID:0000-0001-5889-4463 @@ -14568,88 +15696,88 @@ applied inaccurately. - Horizontal insufficiency of face - orcid.org/0000-0001-5889-4463 + Decreased horizontal dimension of face + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Transverse insufficiency of face + Transverse deficiency of face + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Thin facies + Horizontal deficiency of face + ORCID:0000-0001-5889-4463 - Transverse hypoplasia of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased breadth of face + - Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). - pmid:19125436 + ORCID:0000-0001-5889-4463 + Horizontal hypoplasia of face - + - Decreased width of face - orcid.org/0000-0001-5889-4463 + Thin face - + - orcid.org/0000-0001-5889-4463 - Decreased horizontal dimension of face + Transverse hypoplasia of face + ORCID:0000-0001-5889-4463 - Decreased breadth of face - orcid.org/0000-0001-5889-4463 + Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). + pmid:19125436 - - + - Decreased transverse dimension of face - orcid.org/0000-0001-5889-4463 + Decreased width of face + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Transverse deficiency of face + Narrow face + - Narrow face + Decreased transverse dimension of face + ORCID:0000-0001-5889-4463 - - Thin face + ORCID:0000-0001-5889-4463 + Horizontal insufficiency of face - - + - orcid.org/0000-0001-5889-4463 - Horizontal deficiency of face + ORCID:0000-0001-5889-4463 + Thin facies - Horizontal hypoplasia of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Transverse insufficiency of face @@ -14702,87 +15830,87 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Increased vertical dimension of face + ORCID:0000-0001-5889-4463 + Vertical hyperplasia of face - orcid.org/0000-0001-5889-4463 - Vertical enlargement of face + Increased length of face + ORCID:0000-0001-5889-4463 - Vertical overgrowth of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Vertical elongation of face - orcid.org/0000-0001-5889-4463 - Increased length of face + Elongation of face + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Long facies + Long face + - orcid.org/0000-0001-5889-4463 - Elongation of face + ORCID:0000-0001-5889-4463 + Increased height of face - Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). - pmid:19125436 + Vertical excess of face + ORCID:0000-0001-5889-4463 - + - Vertical Facial Excess - orcid.org/0000-0001-5889-4463 + Long facies + ORCID:0000-0001-5889-4463 - Long face + Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). + pmid:19125436 - - + - Vertical excess of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Vertical enlargement of face + - orcid.org/0000-0001-5889-4463 - Vertical hyperplasia of face + Vertical Facial Excess + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased height of face + ORCID:0000-0001-5889-4463 + Vertical overgrowth of face - Vertical elongation of face - orcid.org/0000-0001-5889-4463 + Increased vertical dimension of face + ORCID:0000-0001-5889-4463 - @@ -14828,17 +15956,23 @@ applied inaccurately. - Malformation of the lower jaw bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anomaly of the mandible - - Malformation of the mandible - orcid.org/0000-0001-5889-4463 + Abnormality of the lower jaw bone + ORCID:0000-0001-5889-4463 - + + + + + Abnormality of the mandible + + + Any abnormality of the mandible, the bone of the lower jaw. @@ -14847,35 +15981,29 @@ applied inaccurately. - Abnormality of the mandible + ORCID:0000-0001-5889-4463 + Malformation of the mandible - - + - Deformity of the lower jaw bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of the lower jaw bone - Anomaly of the mandible - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the mandible - orcid.org/0000-0001-5889-4463 - Abnormality of the lower jaw bone + ORCID:0000-0001-5889-4463 + Deformity of the lower jaw bone - - - - Deformity of the mandible - orcid.org/0000-0001-5889-4463 - @@ -14923,49 +16051,49 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Weak chin + Receding chin - Receding chin + An abnormality in which the mandible is mislocalised posteriorly. + HPO:probinson - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Retrognathia of lower jaw - Receding lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Retrogenia - - + - orcid.org/0000-0001-5889-4463 - Weak jaw + Weak chin + ORCID:0000-0001-5889-4463 - An abnormality in which the mandible is mislocalised posteriorly. - HPO:probinson + Weak jaw + ORCID:0000-0001-5889-4463 - + + - Retrogenia - orcid.org/0000-0001-5889-4463 + Receding lower jaw + ORCID:0000-0001-5889-4463 - + + @@ -15011,38 +16139,38 @@ applied inaccurately. - Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. - pmid:19125436 - - - - - Coarse facial features + ORCID:0000-0001-5889-4463 + Rounded and heavy facial features - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thickened facial skin with coarse facial features - Rounded and heavy facial features - orcid.org/0000-0001-5889-4463 + Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. + pmid:19125436 - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Coarse facial appearance + + Coarse facial features + + + + @@ -15081,14 +16209,14 @@ applied inaccurately. Facial swelling - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Facial puffiness - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -15141,83 +16269,83 @@ applied inaccurately. - Increased width of face - orcid.org/0000-0001-5889-4463 + Wide face + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Wide facies + ORCID:0000-0001-5889-4463 + Horizontal hyperplasia of face - Broad face + Increased horizontal dimension of face + ORCID:0000-0001-5889-4463 - - Transverse hyperplasia of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Wide facies - Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). - pmid:19125436 + Increased transverse dimension of face + ORCID:0000-0001-5889-4463 - + - Horizontal hyperplasia of face - orcid.org/0000-0001-5889-4463 + Broad face + - orcid.org/0000-0001-5889-4463 - Increased breadth of face + ORCID:0000-0001-5889-4463 + Increased width of face - orcid.org/0000-0001-5889-4463 - Wide face + ORCID:0000-0001-5889-4463 + Horizontal excess of face - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Transverse excess of face - orcid.org/0000-0001-5889-4463 - Increased transverse dimension of face + Broad facies + ORCID:0000-0001-5889-4463 - Broad facies - orcid.org/0000-0001-5889-4463 + Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). + pmid:19125436 - + - orcid.org/0000-0001-5889-4463 - Horizontal excess of face + Increased breadth of face + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Increased horizontal dimension of face + ORCID:0000-0001-5889-4463 + Transverse hyperplasia of face @@ -15276,6 +16404,12 @@ applied inaccurately. Plica palpebronasalis + + Palpebronasal fold + ORCID:0000-0001-5889-4463 + + + A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. HPO:probinson @@ -15283,28 +16417,22 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Prominent eye folds + Eye folds + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Palpebronasal fold - - - - - orcid.org/0000-0001-5889-4463 - Eye folds + Prominent eye folds + ORCID:0000-0001-5889-4463 Plica palpebronasalis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -15354,48 +16482,36 @@ applied inaccurately. human_phenotype Hyperplasia of facial adipose tissue Facial fat hypertrophy - Facial fat hyperplasia Increased amount of facial fat + Facial fat hyperplasia Hypertrophy of facial adipose tissue Increased volume of facial adipose tissue Increased amount of facial adipose tissue - Hyperplasia of facial adipose tissue - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 - Facial fat hypertrophy - - - - - Increased amount of facial adipose tissue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased amount of facial fat + - orcid.org/0000-0001-5889-4463 Hypertrophy of facial adipose tissue + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Facial fat hyperplasia + ORCID:0000-0001-5889-4463 - Increased amount of facial fat - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Facial fat hypertrophy - - + An increased amount of subcutaneous fat tissue in the face. @@ -15404,11 +16520,23 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased volume of facial adipose tissue + + ORCID:0000-0001-5889-4463 + Hyperplasia of facial adipose tissue + + + + + Increased amount of facial adipose tissue + ORCID:0000-0001-5889-4463 + + + @@ -15449,8 +16577,8 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 Abnormality of the infranasal depression + ORCID:0000-0001-5889-4463 @@ -15501,34 +16629,34 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Increased transverse dimension of philtrum + Increased width of philtrum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased horizontal dimension of philtrum + Increased breadth of philtrum + ORCID:0000-0001-5889-4463 - Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. - pmid:19152422 + Increased horizontal dimension of philtrum + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Increased width of philtrum + ORCID:0000-0001-5889-4463 + Increased transverse dimension of philtrum - orcid.org/0000-0001-5889-4463 - Increased breadth of philtrum + Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. + pmid:19152422 - + @@ -15570,8 +16698,8 @@ applied inaccurately. + ORCID:0000-0001-5889-4463 Malformation of the forehead - orcid.org/0000-0001-5889-4463 @@ -15589,21 +16717,21 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of the frontal region of the face + ORCID:0000-0001-5889-4463 Anomaly of the forehead - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deformity of the forehead - orcid.org/0000-0001-5889-4463 @@ -15654,21 +16782,21 @@ applied inaccurately. Malformation of facial adipose tissue Abnormality of facial fat - - orcid.org/0000-0001-5889-4463 - Deformity of facial adipose tissue - - - Abnormality of facial fat + + ORCID:0000-0001-5889-4463 + Deformity of facial adipose tissue + + + Malformation of facial adipose tissue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -15717,29 +16845,29 @@ applied inaccurately. Decreased amount of facial adipose tissue - orcid.org/0000-0001-5889-4463 - Decreased amount of facial adipose tissue + Decreased amount of facial fat + ORCID:0000-0001-5889-4463 + Decreased volume of facial adipose tissue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased amount of facial fat + ORCID:0000-0001-5889-4463 + Loss of facial fat - Loss of facial fat - orcid.org/0000-0001-5889-4463 + Decreased amount of facial adipose tissue + ORCID:0000-0001-5889-4463 - @@ -15798,13 +16926,7 @@ applied inaccurately. - DDD:awilkie - Increased prominence or roundness of soft tissues between zygomata and mandible. - - - - - Full cheeks + Big cheeks @@ -15816,46 +16938,52 @@ applied inaccurately. - Big cheeks + DDD:awilkie + Increased prominence or roundness of soft tissues between zygomata and mandible. - - + - orcid.org/0000-0001-5889-4463 - Increased size of cheeks + Chubby cheeks + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypertrophy of cheeks - Puffy cheeks - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased size of cheeks - + - orcid.org/0000-0001-5889-4463 - Hyperplasia of cheeks + Puffy cheeks + ORCID:0000-0001-5889-4463 + - Chubby cheeks - orcid.org/0000-0001-5889-4463 + Large cheeks + + + + ORCID:0000-0001-5889-4463 + Hyperplasia of cheeks + - Large cheeks + Full cheeks @@ -15877,6 +17005,12 @@ applied inaccurately. human_phenotype + + Low-set frontal hairline + + + + Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. pmid:19125436 @@ -15889,12 +17023,6 @@ applied inaccurately. - - Low-set frontal hairline - - - - @@ -15910,19 +17038,19 @@ applied inaccurately. human_phenotype Doll-like facial appearance - - orcid.org/0000-0001-5889-4463 - Doll-like facial appearance - - - - A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. HPO:probinson + + ORCID:0000-0001-5889-4463 + Doll-like facial appearance + + + + @@ -15964,33 +17092,33 @@ applied inaccurately. Low facial muscle tone - Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). - HPO:probinson + Decreased facial muscle tone + ORCID:0000-0001-5889-4463 - + + + ORCID:0000-0001-5889-4463 Atony of facial musculature - orcid.org/0000-0001-5889-4463 - Decreased facial muscle tone - orcid.org/0000-0001-5889-4463 + HPO:probinson + Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Reduced facial muscle tone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Low facial muscle tone @@ -16017,8 +17145,8 @@ applied inaccurately. Mask-like facial appearance - orcid.org/0000-0001-5889-4463 - Lack of facial expression + Mask-like facial appearance + ORCID:0000-0001-5889-4463 @@ -16030,14 +17158,14 @@ applied inaccurately. - Expressionless face + ORCID:0000-0001-5889-4463 + Lack of facial expression - Mask-like facial appearance - orcid.org/0000-0001-5889-4463 + Expressionless face @@ -16078,22 +17206,16 @@ applied inaccurately. Oval facies Oval facial shape - - Oval face - - - - Oval facial shape - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Oval facies + ORCID:0000-0001-5889-4463 @@ -16103,6 +17225,12 @@ applied inaccurately. + + Oval face + + + + @@ -16147,8 +17275,8 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 Abnormality of facial muscles + ORCID:0000-0001-5889-4463 @@ -16237,77 +17365,77 @@ applied inaccurately. - Increased size of lower jaw - orcid.org/0000-0001-5889-4463 + Big lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased projection of mandible - Prominent lower jaw - orcid.org/0000-0001-5889-4463 - - - - - - Abnormal prominence of the chin related to increased length of the mandible. - HPO:probinson + ORCID:0000-0001-5889-4463 + Hypertrophy of mandible - + - orcid.org/0000-0001-5889-4463 - Prominent mandible + Prominent lower jaw + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Hypertrophy of mandible - - - - - Big lower jaw + ORCID:0000-0001-5889-4463 + Increased size of lower jaw Hypertrophy of lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased size of mandible - orcid.org/0000-0001-5889-4463 + Abnormal prominence of the chin related to increased length of the mandible. + HPO:probinson + + + + Increased projection of lower jaw + ORCID:0000-0001-5889-4463 - Large lower jaw + Prominent chin - Prominent chin + ORCID:0000-0001-5889-4463 + Prominent mandible + + + + + Large lower jaw @@ -16352,22 +17480,22 @@ applied inaccurately. - Anomaly of the chin + Abnormality of the chin - + - orcid.org/0000-0001-5889-4463 - Deformity of the chin + Abnormality of the menton + ORCID:0000-0001-5889-4463 - - Abnormality of the menton - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the chin + @@ -16378,14 +17506,14 @@ applied inaccurately. - Abnormality of the chin + ORCID:0000-0001-5889-4463 + Malformation of the chin - + - orcid.org/0000-0001-5889-4463 - Malformation of the chin + Anomaly of the chin @@ -16438,13 +17566,7 @@ applied inaccurately. - A marked tapering of the lower face to the chin. - pmid:19125436 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Pointed mention region @@ -16467,6 +17589,12 @@ applied inaccurately. + + A marked tapering of the lower face to the chin. + pmid:19125436 + + + @@ -16545,6 +17673,12 @@ applied inaccurately. Malformation of the midface Deformity of the midface + + Abnormality of the midface + + + + An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. HPO:probinson @@ -16553,24 +17687,18 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Deformity of the midface - - - - - - orcid.org/0000-0001-5889-4463 Malformation of the midface + ORCID:0000-0001-5889-4463 - Abnormality of the midface + ORCID:0000-0001-5889-4463 + Deformity of the midface - + @@ -16616,14 +17744,8 @@ applied inaccurately. + ORCID:0000-0001-5889-4463 Circular face - orcid.org/0000-0001-5889-4463 - - - - - - Round face @@ -16635,8 +17757,14 @@ applied inaccurately. + Round face + + + + + + ORCID:0000-0001-5889-4463 Round facial shape - orcid.org/0000-0001-5889-4463 @@ -16686,36 +17814,36 @@ applied inaccurately. Anomaly of the orbital region of the face - orcid.org/0000-0001-5889-4463 - Malformation of the orbital region of the face - - - - - Deformity of the orbital region of the face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of the eye region - + + - orcid.org/0000-0001-5889-4463 - Anomaly of the orbital region of the face + ORCID:0000-0001-5889-4463 + Malformation of the orbital region of the face Abnormality of the region around the eyes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of the eye region + ORCID:0000-0001-5889-4463 + Deformity of the orbital region of the face - - + + + + ORCID:0000-0001-5889-4463 + Anomaly of the orbital region of the face + + @@ -16767,37 +17895,37 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Increased distance between eye sockets + ORCID:0000-0001-5889-4463 + Increased distance between eyes - Widely spaced eyes + Wide-set eyes - Increased distance between eyes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased distance between eye sockets - Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). - pmid:19125427 + Widely spaced eyes - + + - Wide-set eyes + Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). + pmid:19125427 - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Excessive orbital separation @@ -16904,14 +18032,14 @@ applied inaccurately. - Decreased depth of philtrum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Shallow philtrum - orcid.org/0000-0001-5889-4463 - Shallow philtrum + Decreased depth of philtrum + ORCID:0000-0001-5889-4463 @@ -16929,7 +18057,7 @@ applied inaccurately. Bird-like facial appearance - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Bird-like facial appearance @@ -16972,28 +18100,28 @@ applied inaccurately. Square facies - Square facies - orcid.org/0000-0001-5889-4463 + Square face + - Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. - pmid:19125436 - - - - - orcid.org/0000-0001-5889-4463 Square facial shape + ORCID:0000-0001-5889-4463 - Square face + Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. + pmid:19125436 + + + + + Square facies + ORCID:0000-0001-5889-4463 - @@ -17036,14 +18164,20 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 Decreased length of philtrum + ORCID:0000-0001-5889-4463 Vertical hypoplasia of philtrum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + + + + Decreased height of philtrum + ORCID:0000-0001-5889-4463 @@ -17054,14 +18188,8 @@ applied inaccurately. + ORCID:0000-0001-5889-4463 Decreased vertical dimension of philtrum - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 - Decreased height of philtrum @@ -17113,62 +18241,62 @@ applied inaccurately. + ORCID:0000-0001-5889-4463 Unsymmetrical face - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Unbalanced face + ORCID:0000-0001-5889-4463 + Uneven sides of face - orcid.org/0000-0001-5889-4463 - Unequal sides of face + ORCID:0000-0001-5889-4463 + Unbalanced face - orcid.org/0000-0001-5889-4463 - Crooked face + ORCID:0000-0001-5889-4463 + Unequal sides of face - + - An abnormal difference between the left and right sides of the face. - HPO:probinson + ORCID:0000-0001-5889-4463 + Asymmetry of face - + + - Asymmetry of face - orcid.org/0000-0001-5889-4463 + Facial asymmetry - orcid.org/0000-0001-5889-4463 - Uneven face + An abnormal difference between the left and right sides of the face. + HPO:probinson - - + - Facial asymmetry + ORCID:0000-0001-5889-4463 + Crooked face - orcid.org/0000-0001-5889-4463 - Uneven sides of face + Uneven face + ORCID:0000-0001-5889-4463 @@ -17195,11 +18323,11 @@ applied inaccurately. - DDD:jclayton-smith - Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. - pmid:19125436 + ORCID:0000-0001-5889-4463 + Triangular facial shape - + + Triangular face @@ -17208,15 +18336,15 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Triangular facial shape + DDD:jclayton-smith + Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. + pmid:19125436 - - + - orcid.org/0000-0001-5889-4463 Face with broad temples and narrow chin + ORCID:0000-0001-5889-4463 @@ -17271,58 +18399,58 @@ applied inaccurately. - An abnormality of the Maxilla (upper jaw bone). - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 - Malformation of the upper jaw bones + ORCID:0000-0001-5889-4463 + Deformity of the upper jaw bones - orcid.org/0000-0001-5889-4463 Anomaly of the maxilla + ORCID:0000-0001-5889-4463 - Abnormality of the upper jaw bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the maxilla - + - Abnormality of the upper jaw bones - orcid.org/0000-0001-5889-4463 + An abnormality of the Maxilla (upper jaw bone). + HPO:probinson - - + - Deformity of the upper jaw bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of the maxilla - - Deformity of the maxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of the upper jaw bones - + - Malformation of the maxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of the upper jaw bones + + + Abnormality of the upper jaw bone + ORCID:0000-0001-5889-4463 + + + + @@ -17372,8 +18500,8 @@ applied inaccurately. Hypotrophic maxilla Retrusion of upper jaw bones Decreased projection of maxilla - Micromaxilla Small upper jaw + Micromaxilla Decreased size of upper jaw Upper jaw deficiency Upper jaw retrusion @@ -17386,146 +18514,146 @@ applied inaccurately. - Maxillary deficiency - orcid.org/0000-0001-5889-4463 + Decreased projection of upper jaw + ORCID:0000-0001-5889-4463 - - + - Decreased projection of maxilla - orcid.org/0000-0001-5889-4463 + Hypotrophic upper jaw bones + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Retrognathia of upper jaw - Small maxilla - orcid.org/0000-0001-5889-4463 + Decreased projection of maxilla + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Small upper jaw + Retrusion of upper jaw bones + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 + Maxillary deficiency - Upper jaw deficiency - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased size of maxilla - Maxillary retrognathia - orcid.org/0000-0001-5889-4463 + Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. + HPO:probinson - + - Small upper jaw bones - orcid.org/0000-0001-5889-4463 + Decreased size of upper jaw + ORCID:0000-0001-5889-4463 - Maxillary hypoplasia - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Micromaxilla - Maxillary retrusion - orcid.org/0000-0001-5889-4463 + Small upper jaw bones + ORCID:0000-0001-5889-4463 - Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. - HPO:probinson + ORCID:0000-0001-5889-4463 + Maxillary micrognathia - + - orcid.org/0000-0001-5889-4463 - Decreased size of maxilla + ORCID:0000-0001-5889-4463 + Small upper jaw - orcid.org/0000-0001-5889-4463 - Upper jaw retrusion + Deficiency of upper jaw bones + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Micromaxilla + Upper jaw retrusion + ORCID:0000-0001-5889-4463 + - Maxillary micrognathia - orcid.org/0000-0001-5889-4463 + Maxillary retrognathia + ORCID:0000-0001-5889-4463 - Hypoplasia of upper jaw bones - orcid.org/0000-0001-5889-4463 + Small maxilla + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Hypotrophic upper jaw bones + Hypotrophic maxilla + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deficiency of upper jaw bones - - - - - - Hypotrophic maxilla - orcid.org/0000-0001-5889-4463 + Maxillary hypoplasia + ORCID:0000-0001-5889-4463 - + - Retrusion of upper jaw bones - orcid.org/0000-0001-5889-4463 + Hypoplasia of upper jaw bones + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Decreased size of upper jaw + Upper jaw deficiency + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased projection of upper jaw + Maxillary retrusion + ORCID:0000-0001-5889-4463 - + + @@ -17611,42 +18739,42 @@ applied inaccurately. Vertical hypoplasia of chin - Decreased height of chin - orcid.org/0000-0001-5889-4463 + Small chin - + - Short lower third of face + ORCID:0000-0001-5889-4463 + Vertical deficiency of chin - - Vertical deficiency of chin - orcid.org/0000-0001-5889-4463 + Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. + HPO:probinson + pmid:19125436 - + - Short chin + Short lower third of face - Small chin + ORCID:0000-0001-5889-4463 + Decreased height of chin - + - Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. - HPO:probinson - pmid:19125436 + Short chin - + + @@ -17676,34 +18804,34 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Prominent supraorbital margins + Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. + pmid:19125436 - + - Hypertrophy of supraorbital margins - orcid.org/0000-0001-5889-4463 + Prominent supraorbital margins + ORCID:0000-0001-5889-4463 - + - Prominent brow + ORCID:0000-0001-5889-4463 + Hyperplasia of supraorbital margins - - + - orcid.org/0000-0001-5889-4463 - Hyperplasia of supraorbital margins + Hypertrophy of supraorbital margins + ORCID:0000-0001-5889-4463 - Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. - pmid:19125436 + Prominent brow - + + @@ -17750,40 +18878,40 @@ applied inaccurately. - Wide forehead + ORCID:0000-0001-5889-4463 + Increased width of the forehead - Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. - pmid:19125436 + ORCID:0000-0001-5889-4463 + Bitemporal widening - + Intertemporal widening - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Increased width of the forehead - orcid.org/0000-0001-5889-4463 + Wide forehead - Broad forehead + Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. + pmid:19125436 - - + - Bitemporal widening - orcid.org/0000-0001-5889-4463 + Broad forehead + @@ -17811,35 +18939,35 @@ applied inaccurately. Hypomimia - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Dull facial expression + ORCID:0000-0001-5889-4463 + Decreased facial muscle movement - + - orcid.org/0000-0001-5889-4463 Decreased facial expressions + ORCID:0000-0001-5889-4463 - HPO:probinson A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. + HPO:probinson - orcid.org/0000-0001-5889-4463 - Decreased facial muscle movement + Dull facial expression - + @@ -17863,14 +18991,14 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Pugilistic facial appearance - orcid.org/0000-0001-5889-4463 Boxer-like facial appearance + ORCID:0000-0001-5889-4463 @@ -17919,33 +19047,33 @@ applied inaccurately. - Receding forehead + Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. + pmid:19125436 - - + - Inclined forehead + ORCID:0000-0001-5889-4463 + Posteriorly sloping forehead - - Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. - pmid:19125436 + Inclined forehead - + + - Sloping forehead + Receding forehead - Posteriorly sloping forehead - orcid.org/0000-0001-5889-4463 + Sloping forehead + @@ -17996,14 +19124,8 @@ applied inaccurately. - Narrow forehead - - - - - + ORCID:0000-0001-5889-4463 Decreased width of the forehead - orcid.org/0000-0001-5889-4463 @@ -18014,6 +19136,12 @@ applied inaccurately. + + Narrow forehead + + + + @@ -18054,40 +19182,40 @@ applied inaccurately. - Elongated philtrum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased length of philtrum + ORCID:0000-0001-5889-4463 Increased height of philtrum - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Vertical hyperplasia of philtrum + Elongated philtrum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased vertical dimension of philtrum - Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. - pmid:19152422 + ORCID:0000-0001-5889-4463 + Vertical hyperplasia of philtrum - + - orcid.org/0000-0001-5889-4463 - Increased length of philtrum + Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. + pmid:19152422 - + @@ -18104,13 +19232,6 @@ applied inaccurately. human_phenotype Whistling facial appearance - - Whistling facial appearance - orcid.org/0000-0001-5889-4463 - - - - Whistling appearance @@ -18124,6 +19245,13 @@ applied inaccurately. + + Whistling facial appearance + ORCID:0000-0001-5889-4463 + + + + @@ -18181,6 +19309,7 @@ applied inaccurately. Lower jaw hypoplasia Robin mandible Hypotrophic lower jaw + Fyler:4163 Hypoplasia of lower jaw Retrusion of lower jaw Lower jaw deficiency @@ -18204,77 +19333,77 @@ applied inaccurately. - Small lower jaw + Lower jaw hypoplasia + HPO:skoehler - - orcid.org/0000-0001-5889-4463 - Decreased projection of mandible - - - - - Small jaw + Small lower jaw - Retrusion of lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deficiency of lower jaw - + - HPO:skoehler - Lower jaw hypoplasia + ORCID:0000-0001-5889-4463 + Hypoplasia of lower jaw - Decreased projection of lower jaw - orcid.org/0000-0001-5889-4463 + Little lower jaw - + + - Developmental hypoplasia of the mandible. - HPO:probinson + ORCID:0000-0001-5889-4463 + Hypotrophic mandible - + - Little lower jaw + ORCID:0000-0001-5889-4463 + Decreased projection of mandible - - + - orcid.org/0000-0001-5889-4463 Hypotrophic lower jaw + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hypotrophic mandible + ORCID:0000-0001-5889-4463 + Retrusion of lower jaw - + - Deficiency of lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased projection of lower jaw - + - Hypoplasia of lower jaw - orcid.org/0000-0001-5889-4463 + Small jaw + + + Developmental hypoplasia of the mandible. + HPO:probinson + + + @@ -18312,13 +19441,6 @@ applied inaccurately. human_phenotype Tall forehead - - orcid.org/0000-0001-5889-4463 - Tall forehead - - - - High forehead @@ -18331,6 +19453,13 @@ applied inaccurately. + + Tall forehead + ORCID:0000-0001-5889-4463 + + + + @@ -18351,34 +19480,34 @@ applied inaccurately. - Widow's peak + Hairline peak + ORCID:0000-0001-5889-4463 - Frontal hairline with bilateral arcs to a low point in the midline of the forehead. - pmid:19125436 + Hairline point + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Hairline peak + Widow's peak - orcid.org/0000-0001-5889-4463 - Hairline point + Frontal hairline with bilateral arcs to a low point in the midline of the forehead. + pmid:19125436 - - + - orcid.org/0000-0001-5889-4463 V-shaped frontal hairline + ORCID:0000-0001-5889-4463 @@ -18424,41 +19553,41 @@ applied inaccurately. Decreased size of frontal region of face - Hypotrophic forehead - orcid.org/0000-0001-5889-4463 + Small forehead - + + - HPO:curators - The presence of a forehead that is abnormally small. + Decreased size of frontal region of face + ORCID:0000-0001-5889-4463 - + - Small forehead + HPO:curators + The presence of a forehead that is abnormally small. - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased size of forehead - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypoplasia of forehead - orcid.org/0000-0001-5889-4463 - Decreased size of frontal region of face + Hypotrophic forehead + ORCID:0000-0001-5889-4463 - + @@ -18505,17 +19634,11 @@ applied inaccurately. Abnormality of the external ear - Abnormality of the outer ear + External ear malformations - - An abnormality of the external ear. - HPO:probinson - - - Abnormality of the external ear @@ -18523,19 +19646,25 @@ applied inaccurately. - Outer ear abnormality + An abnormality of the external ear. + HPO:probinson + + + + + Abnormality of the outer ear - External ear malformations + Ear anomalies - Ear anomalies + Outer ear abnormality @@ -18672,12 +19801,6 @@ applied inaccurately. UMLS:C4021809 human_phenotype - - Abnormality of the inner ear - - - - An abnormality of the inner ear. HPO:probinson @@ -18690,6 +19813,12 @@ applied inaccurately. + + Abnormality of the inner ear + + + + @@ -18706,16 +19835,10 @@ applied inaccurately. Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. UMLS:C0040264 human_phenotype - Ringing in the ears Ringing in ears + Ringing in the ears - - Cochrane:ab005233 - Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. - - - Ringing in ears @@ -18723,7 +19846,13 @@ applied inaccurately. - orcid.org/0000-0001-5208-3432 + Cochrane:ab005233 + Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. + + + + + ORCID:0000-0001-5208-3432 Ringing in the ears @@ -18831,18 +19960,18 @@ applied inaccurately. human_phenotype - - Abnormality of ear lobe - - - - An abnormality of the lobule of pinna. HPO:probinson + + Abnormality of ear lobe + + + + Abnormality of earlobe @@ -18892,10 +20021,11 @@ applied inaccurately. Abnormal hearing - An abnormality of the sensory perception of sound. - HPO:probinson + HPO:skoehler + Abnormal hearing - + + Hearing abnormality @@ -18904,11 +20034,10 @@ applied inaccurately. - HPO:skoehler - Abnormal hearing + An abnormality of the sensory perception of sound. + HPO:probinson - - + @@ -18965,36 +20094,37 @@ applied inaccurately. UMLS:C1384666 human_phenotype Hypoacusis + Fyler:4868 - A decreased magnitude of the sensory perception of sound. - HPO:probinson + Hearing defect - + + - Hearing impairment + Deafness - Hearing loss + A decreased magnitude of the sensory perception of sound. + HPO:probinson - - + - Hearing defect + Hearing impairment - Deafness + Hearing loss - + @@ -19043,63 +20173,63 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Nasal deformity - - - - - - orcid.org/0000-0001-5889-4463 - Anomaly of the nose + ORCID:0000-0001-5889-4463 + Nasal anomaly - orcid.org/0000-0001-5889-4463 - Deformity of the nose + Abnormality of the nose - + - orcid.org/0000-0001-5889-4463 - Nasal abnormality + ORCID:0000-0001-5889-4463 + Nasal deformity - + + ORCID:0000-0001-5889-4463 Malformation of the nose - orcid.org/0000-0001-5889-4463 - Nasal anomaly - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anomaly of the nose - Abnormality of the nose + ORCID:0000-0001-5889-4463 + Deformity of the nose - + + + + An abnormality of the nose. + HPO:probinson + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Nasal malformation - An abnormality of the nose. - HPO:probinson + Nasal abnormality + ORCID:0000-0001-5889-4463 - + + @@ -19168,12 +20298,6 @@ applied inaccurately. - - Low set ears - - - - Low-set ears @@ -19187,6 +20311,12 @@ applied inaccurately. + + Low set ears + + + + @@ -19275,7 +20405,7 @@ applied inaccurately. Acute middle ear infection - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Acute middle ear infection @@ -19448,7 +20578,7 @@ applied inaccurately. human_phenotype - Simple ears + Abnormally shaped ears @@ -19460,16 +20590,16 @@ applied inaccurately. - Abnormally shaped ears + Auricular malformation - Auricular malformation + An abnormality of the pinna, which is also referred to as the auricle or external ear. + HPO:probinson - - + Malformed ears @@ -19478,10 +20608,10 @@ applied inaccurately. - An abnormality of the pinna, which is also referred to as the auricle or external ear. - HPO:probinson + Simple ears - + + @@ -19506,25 +20636,25 @@ applied inaccurately. - Simple, cup-shaped ears + Cupped ears + HPO:skoehler - - + - Cupped ear + Cup-shaped ears - Cupped ears - HPO:skoehler + Cupped ear - + + - Cup-shaped ears + Simple, cup-shaped ears @@ -19575,28 +20705,28 @@ applied inaccurately. Anomaly of the periauricular region - orcid.org/0000-0001-5889-4463 - Abnormality of the region around the ear + Anomaly of the periauricular region + ORCID:0000-0001-5889-4463 - - Deformity of the periauricular region - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of the periauricular region - orcid.org/0000-0001-5889-4463 - Malformation of the periauricular region + ORCID:0000-0001-5889-4463 + Deformity of the periauricular region - Anomaly of the periauricular region - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of the region around the ear + @@ -19625,36 +20755,36 @@ applied inaccurately. Preauricular fibroepithelial polyp - orcid.org/0000-0001-5889-4463 - Preauricular fibroepithelial polyp - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Skin tag on the posterior cheek - Preauricular acrochordon - orcid.org/0000-0001-5889-4463 + A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). + HPO:probinson - + - orcid.org/0000-0001-5889-4463 Skin tag in front of the ear + ORCID:0000-0001-5889-4463 - A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). - HPO:probinson + Preauricular fibroepithelial polyp + ORCID:0000-0001-5889-4463 - + + + + Preauricular acrochordon + ORCID:0000-0001-5889-4463 + + @@ -19697,14 +20827,14 @@ applied inaccurately. - Small earlobes - HPO:skoehler + Small earlobe - Small earlobe + Small earlobes + HPO:skoehler @@ -19765,10 +20895,11 @@ applied inaccurately. - Earlobe, absent + Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. + HPO:probinson + pmid:19152421 - - + Lobeless ears @@ -19783,11 +20914,10 @@ applied inaccurately. - Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. - HPO:probinson - pmid:19152421 + Earlobe, absent - + + @@ -19843,8 +20973,8 @@ applied inaccurately. + ORCID:0000-0001-6908-9849 Middle ear infection - http://orcid.org/0000-0001-6908-9849 @@ -19899,12 +21029,6 @@ applied inaccurately. Chronic middle ear infection - - HPO:skoehler - Otitis media, chronic - - - Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. HPO:probinson @@ -19917,6 +21041,12 @@ applied inaccurately. + + HPO:skoehler + Otitis media, chronic + + + @@ -20182,18 +21312,18 @@ applied inaccurately. - An abnormal narrowing of the external auditory canal. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Narrow ear canal + ORCID:0000-0001-5208-3432 + + An abnormal narrowing of the external auditory canal. + HPO:probinson + + + @@ -20246,24 +21376,24 @@ applied inaccurately. Recurrent middle ear infection - http://orcid.org/0000-0001-6908-9849 Recurrent middle ear infection + ORCID:0000-0001-6908-9849 - - HPO:skoehler - Otitis media, recurrent - - - HPO:probinson Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. + + HPO:skoehler + Otitis media, recurrent + + + @@ -20314,18 +21444,18 @@ applied inaccurately. - - An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. - HPO:probinson - - - Conductive deafness + + An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. + HPO:probinson + + + @@ -20377,18 +21507,18 @@ applied inaccurately. human_phenotype - - A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. - HPO:probinson - - - HPO:skoehler Hearing loss, sensorineural + + A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. + HPO:probinson + + + @@ -20465,13 +21595,6 @@ applied inaccurately. - - HPO:skoehler - Hearing loss, mixed - - - - A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. HPO:probinson @@ -20484,6 +21607,13 @@ applied inaccurately. + + HPO:skoehler + Hearing loss, mixed + + + + @@ -20524,13 +21654,20 @@ applied inaccurately. human_phenotype - Prominent ear + Prominent ears - Prominent ears + HPO:skoehler + Protruding ears + + + + + + Prominent ear @@ -20541,13 +21678,6 @@ applied inaccurately. - - HPO:skoehler - Protruding ears - - - - @@ -20608,18 +21738,18 @@ applied inaccurately. - Atresia of the external auditory canals - HPO:skoehler - - - - + ORCID:0000-0001-5208-3432 Absent ear canal - orcid.org/0000-0001-5208-3432 + + Atresia of the external auditory canals + HPO:skoehler + + + @@ -20663,17 +21793,17 @@ applied inaccurately. Potato nose - Potato nose - orcid.org/0000-0001-5889-4463 + Bulbous nose - + - Bulbous nose + Potato nose + ORCID:0000-0001-5889-4463 - + Increased volume and globular shape of the anteroinferior aspect of the nose. @@ -20777,8 +21907,8 @@ applied inaccurately. Thin dorsum of nose Thin nasal dorsum Narrow nasal dorsum - Narrow dorsum of nose Decreased width of nasal ridge + Narrow dorsum of nose Decreased width of dorsum of nose Decreased width of nasal dorsum Thin nasal ridge @@ -20796,10 +21926,10 @@ applied inaccurately. - Decreased width of the nasal ridge. - pmid:19152422 + Thin nasal ridge - + + Narrow nasal ridge @@ -20808,10 +21938,10 @@ applied inaccurately. - Thin nasal ridge + Decreased width of the nasal ridge. + pmid:19152422 - - + @@ -20853,34 +21983,34 @@ applied inaccurately. - Abnormality of the nasal septum + ORCID:0000-0001-5889-4463 + Anomaly of septum of nose - - An abnormality of the nasal septum. - HPO:probinson + Abnormality of the nasal septum - + + - orcid.org/0000-0001-5889-4463 - Anomaly of septum of nose + ORCID:0000-0001-5889-4463 + Anomaly of nasal septum - orcid.org/0000-0001-5889-4463 - Abnormality of septum of nose + An abnormality of the nasal septum. + HPO:probinson - - + - Anomaly of nasal septum - orcid.org/0000-0001-5889-4463 + Abnormality of septum of nose + ORCID:0000-0001-5889-4463 + @@ -20921,13 +22051,6 @@ applied inaccurately. Short septum of nose - - orcid.org/0000-0001-5889-4463 - Decreased length of septum of nose - - - - Short nasal septum @@ -20941,15 +22064,22 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + Decreased length of nasal septum + ORCID:0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 Short septum of nose - orcid.org/0000-0001-5889-4463 - Decreased length of nasal septum + ORCID:0000-0001-5889-4463 + Decreased length of septum of nose @@ -21006,10 +22136,10 @@ applied inaccurately. Frequent nosebleeds - Nosebleed + Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. + HPO:probinson - - + Nose bleeding @@ -21018,20 +22148,20 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Bloody nose + Frequent nosebleeds - Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. - HPO:probinson + Bloody nose + ORCID:0000-0001-5889-4463 - + + - Frequent nosebleeds + Nosebleed @@ -21080,25 +22210,31 @@ applied inaccurately. - Malformation of the nasal bridge - orcid.org/0000-0001-5889-4463 + Abnormality of the bridge of the nose + ORCID:0000-0001-5889-4463 - + - Malformation of the bridge of the nose - orcid.org/0000-0001-5889-4463 + Abnormality of the nasal bridge + + + + + + Deformity of the nasal bridge + ORCID:0000-0001-5889-4463 - Abnormality of the bridge of the nose - orcid.org/0000-0001-5889-4463 + Malformation of the bridge of the nose + ORCID:0000-0001-5889-4463 - + Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. @@ -21108,25 +22244,19 @@ applied inaccurately. - Deformity of the nasal bridge - orcid.org/0000-0001-5889-4463 + Malformation of the nasal bridge + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deformity of the bridge of the nose - orcid.org/0000-0001-5889-4463 - - Abnormality of the nasal bridge - - - - @@ -21176,69 +22306,69 @@ applied inaccurately. Protruding bridge of nose - orcid.org/0000-0001-5889-4463 - Convex bridge of nose + High nasal bridge - + - Anterior positioning of the nasal root in comparison to the usual positioning for age. - pmid:19152422 + Convex nasal bridge + ORCID:0000-0001-5889-4463 - + + - Elevated nasal bridge + Prominent nasal root - High nasal bridge + ORCID:0000-0001-5889-4463 + Protruding bridge of nose + ORCID:0000-0001-5889-4463 Prominent bridge of nose - orcid.org/0000-0001-5889-4463 - Prominent nasal root + Anterior positioning of the nasal root in comparison to the usual positioning for age. + pmid:19152422 - - + - orcid.org/0000-0001-5889-4463 - Protruding nasal bridge + Elevated nasal bridge - orcid.org/0000-0001-5889-4463 - Protruding bridge of nose + Prominent nasal bridge - Convex nasal bridge - orcid.org/0000-0001-5889-4463 + Protruding nasal bridge + ORCID:0000-0001-5889-4463 - + - Prominent nasal bridge + ORCID:0000-0001-5889-4463 + Convex bridge of nose - + @@ -21285,41 +22415,41 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 Deformity of the nasal ala + ORCID:0000-0001-5889-4463 - An abnormality of the Ala of nose. - HPO:probinson - pmid:19152422 + ORCID:0000-0001-5889-4463 + Malformation of the nasal ala - + - orcid.org/0000-0001-5889-4463 - Malformation of the nasal ala + ORCID:0000-0001-5889-4463 + Deformity of the nasal alar cartilage - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of the nasal alar cartilage Malformation of the nasal alar cartilage - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deformity of the nasal alar cartilage + An abnormality of the Ala of nose. + HPO:probinson + pmid:19152422 - + @@ -21377,8 +22507,14 @@ applied inaccurately. + ORCID:0000-0001-5889-4463 + Small nasal alae + + + + + ORCID:0000-0001-5889-4463 Decreased size of nasal alae - orcid.org/0000-0001-5889-4463 @@ -21388,12 +22524,6 @@ applied inaccurately. - - orcid.org/0000-0001-5889-4463 - Small nasal alae - - - @@ -21455,83 +22585,83 @@ applied inaccurately. - Broad nasal bridge + Wide nasal bridge - HPO:probinson - Increased breadth of the nasal bridge (and with it, the nasal root). - pmid:19152422 + ORCID:0000-0001-5889-4463 + Increased width of nasal bridge - + + - Widened nasal bridge + Broad nasal bridge - orcid.org/0000-0001-5889-4463 - Increased breadth of nasal bridge + Broad nasal root - Wide nasal bridge + ORCID:0000-0001-5889-4463 + Increased width of bridge of nose - orcid.org/0000-0001-5889-4463 - Increased width of nasal bridge + ORCID:0000-0001-5889-4463 + Wide bridge of nose - Broad flat nasal bridge - HPO:skoehler + Nasal bridge broad - + - orcid.org/0000-0001-5889-4463 - Wide bridge of nose + Increased breadth of nasal bridge + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased breadth of bridge of nose + Widened nasal bridge - Nasal bridge broad + HPO:probinson + Increased breadth of the nasal bridge (and with it, the nasal root). + pmid:19152422 - - + - Increased width of bridge of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased breadth of bridge of nose - Broad nasal root + Broad flat nasal bridge + HPO:skoehler - + @@ -21570,28 +22700,28 @@ applied inaccurately. Abnormality of mucous membrane of nose + ORCID:0000-0001-5889-4463 Abnormality of nasal mucous membrane - orcid.org/0000-0001-5889-4463 - Abnormality of mucosa of nose - orcid.org/0000-0001-5889-4463 + Abnormality of mucous membrane of nose + ORCID:0000-0001-5889-4463 - Abnormality of the nasal mucosa + ORCID:0000-0001-5889-4463 + Abnormality of mucosa of nose - Abnormality of mucous membrane of nose - orcid.org/0000-0001-5889-4463 + Abnormality of the nasal mucosa @@ -21645,78 +22775,78 @@ applied inaccurately. Angioectasia of mucous membrane of nose Nasal mucous membrane telangiectasia Spider veins of mucous membrane of nose - Angioectasia of mucosa of nose Telangiectasia of nasal mucous membrane + Angioectasia of mucosa of nose Telangiectasia of mucous membrane of nose Angioectasia of nasal mucous membrane - orcid.org/0000-0001-5889-4463 - Spider veins of nasal mucous membrane + Angioectasia of mucosa of nose + ORCID:0000-0001-5889-4463 - - HPO:probinson - Telangiectasia of the nasal mucosa. + Telangiectasia of mucosa of nose + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Angioectasia of nasal mucous membrane + Telangiectasia of mucous membrane of nose + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Nasal mucous membrane telangiectasia + Angioectasia of mucous membrane of nose + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Telangiectasia of mucosa of nose + Telangiectasia of nasal mucous membrane + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Angioectasia of mucous membrane of nose + ORCID:0000-0001-5889-4463 + Angioectasia of nasal mucous membrane - orcid.org/0000-0001-5889-4463 - Telangiectasia of mucous membrane of nose + HPO:probinson + Telangiectasia of the nasal mucosa. - + - orcid.org/0000-0001-5889-4463 - Telangiectasia of nasal mucous membrane + ORCID:0000-0001-5889-4463 + Spider veins of nasal mucous membrane + - Angioectasia of mucosa of nose - orcid.org/0000-0001-5889-4463 + Spider veins of mucous membrane of nose + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 Spider veins of mucosa of nose + ORCID:0000-0001-5889-4463 - Spider veins of mucous membrane of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Nasal mucous membrane telangiectasia - @@ -21754,40 +22884,33 @@ applied inaccurately. UMLS:C4025852 human_phenotype Deformity of the nasal tip - Deformity of tip of nose Malformation of the nasal tip + Deformity of tip of nose Malformation of tip of nose Abnormality of tip of nose - orcid.org/0000-0001-5889-4463 - Deformity of the nasal tip + An abnormality of the nasal tip. + HPO:probinson + pmid:19152422 - - + - orcid.org/0000-0001-5889-4463 - Deformity of tip of nose + ORCID:0000-0001-5889-4463 + Deformity of the nasal tip Abnormality of tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - - An abnormality of the nasal tip. - HPO:probinson - pmid:19152422 - - - Abnormality of the nasal tip @@ -21795,15 +22918,22 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Malformation of the nasal tip + Deformity of tip of nose + ORCID:0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 Malformation of tip of nose - orcid.org/0000-0001-5889-4463 @@ -21854,12 +22984,6 @@ applied inaccurately. Flat tip of nose - - Nasal tip, depressed - - - - Decreased distance from the nasal tip to the nasal base. pmid:19152422 @@ -21867,13 +22991,13 @@ applied inaccurately. - Flattened nasal tip + ORCID:0000-0001-5889-4463 + Retruded tip of nose - - Flat nasal tip + Nasal tip, depressed @@ -21885,28 +23009,34 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + Caved in nasal tip + ORCID:0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 Flat tip of nose - orcid.org/0000-0001-5889-4463 - Depressed tip of nose + Flattened nasal tip - Retruded tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Depressed tip of nose + - orcid.org/0000-0001-5889-4463 - Caved in nasal tip + Flat nasal tip @@ -21932,20 +23062,19 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Polly beak nasal deformity + Convex dorsum of nose + ORCID:0000-0001-5889-4463 - - Hooked nose + Beaklike protrusion - Beaklike protrusion + Hooked nose @@ -21957,21 +23086,22 @@ applied inaccurately. - Convex dorsum of nose - orcid.org/0000-0001-5889-4463 + Beaked nose + - Convex nasal dorsum - orcid.org/0000-0001-5889-4463 + Polly beak nasal deformity + ORCID:0000-0001-5889-4463 + - Beaked nose + ORCID:0000-0001-5889-4463 + Convex nasal dorsum - @@ -22017,47 +23147,47 @@ applied inaccurately. - Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. - pmid:19152422 + Increased nasal breadth + ORCID:0000-0001-5889-4463 - + + - Wide nose + Increased nasal width + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Increased breadth of nose + ORCID:0000-0001-5889-4463 - Broad nose + Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. + pmid:19152422 - - + - orcid.org/0000-0001-5889-4463 - Increased width of nose + Wide nose - Increased nasal breadth - orcid.org/0000-0001-5889-4463 + Increased width of nose + ORCID:0000-0001-5889-4463 - Increased nasal width - orcid.org/0000-0001-5889-4463 + Broad nose @@ -22109,7 +23239,8 @@ applied inaccurately. - Pinched nasal bridge + Pinched bridge of nose + ORCID:0000-0001-5889-4463 @@ -22120,13 +23251,6 @@ applied inaccurately. - - Pinched bridge of nose - orcid.org/0000-0001-5889-4463 - - - - Decreased width of the bony bridge of the nose. pmid:19152422 @@ -22134,20 +23258,26 @@ applied inaccurately. - Narrow nasal bridge + Nasal bridge, thin - Nasal bridge, thin + Pinched nasal bridge - + + ORCID:0000-0001-5889-4463 Narrow bridge of nose - orcid.org/0000-0001-5889-4463 + + + + + + Narrow nasal bridge @@ -22213,8 +23343,8 @@ applied inaccurately. UMLS:C4280629 human_phenotype Nasal hypertrophy - Pronounced nose Big nose + Pronounced nose Hyperplasia of nose Hypertrophy of nose Increased nasal size @@ -22223,77 +23353,77 @@ applied inaccurately. + ORCID:0000-0001-5889-4463 Nasal hypertrophy - orcid.org/0000-0001-5889-4463 - Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. - pmid:19152422 + ORCID:0000-0001-5889-4463 + Hypertrophy of nose - + + Pronounced nose + ORCID:0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 Nasal hyperplasia - orcid.org/0000-0001-5889-4463 - Disproportionately large nose + Hyperplasia of nose + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Pronounced nose + Big nose + ORCID:0000-0001-5889-4463 - Large nose + Increased nasal size + ORCID:0000-0001-5889-4463 - Hypertrophy of nose - orcid.org/0000-0001-5889-4463 + Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. + pmid:19152422 - + - orcid.org/0000-0001-5889-4463 - Increased nasal size + Prominent nose - Increased size of nose - orcid.org/0000-0001-5889-4463 + Large nose - Prominent nose + Disproportionately large nose - orcid.org/0000-0001-5889-4463 - Hyperplasia of nose - - - - - orcid.org/0000-0001-5889-4463 - Big nose + ORCID:0000-0001-5889-4463 + Increased size of nose @@ -22333,14 +23463,14 @@ applied inaccurately. Triangular shaped tip of nose - Triangular shaped tip of nose - orcid.org/0000-0001-5889-4463 + Triangular nasal tip - Triangular nasal tip + Triangular shaped tip of nose + ORCID:0000-0001-5889-4463 @@ -22383,7 +23513,7 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Narrowing of the rear opening of the nasal cavity @@ -22432,6 +23562,7 @@ applied inaccurately. UMLS:C0008297 human_phenotype Blockage of the rear opening of the nasal cavity + Fyler:4203 Obstruction of the rear opening of the nasal cavity @@ -22442,15 +23573,15 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 Obstruction of the rear opening of the nasal cavity + ORCID:0000-0001-5889-4463 Blockage of the rear opening of the nasal cavity - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -22547,34 +23678,33 @@ applied inaccurately. Increased breadth of tip of nose - orcid.org/0000-0001-5889-4463 - Increased width of tip of nose + ORCID:0000-0001-5889-4463 + Wide tip of nose - Nasal tip, wide + ORCID:0000-0001-5889-4463 + Increased width of tip of nose - Nasal tip, broad + Broad, upturned nose - Increased breadth of tip of nose - orcid.org/0000-0001-5889-4463 + Nasal tip, wide - Increased breadth of nasal tip - orcid.org/0000-0001-5889-4463 + Nasal tip, broad @@ -22587,40 +23717,41 @@ applied inaccurately. - Broad nasal tip + Broad upturned nose - + - orcid.org/0000-0001-5889-4463 - Wide tip of nose + Broad tip of nose + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased width of nasal tip + ORCID:0000-0001-5889-4463 + Increased breadth of nasal tip - Broad, upturned nose + ORCID:0000-0001-5889-4463 + Increased width of nasal tip - Broad upturned nose + Broad nasal tip - + - orcid.org/0000-0001-5889-4463 - Broad tip of nose + Increased breadth of tip of nose + ORCID:0000-0001-5889-4463 @@ -22668,28 +23799,21 @@ applied inaccurately. Cleft nasal tip - Notched nasal tip - - - - - - orcid.org/0000-0001-5889-4463 Cleft nasal tip + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Cleft tip of nose + Bifid tip of nose + ORCID:0000-0001-5889-4463 - - + - Notched tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cleft tip of nose @@ -22702,10 +23826,17 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Bifid tip of nose + Notched tip of nose + ORCID:0000-0001-5889-4463 - + + + + + Notched nasal tip + + + @@ -22747,83 +23878,83 @@ applied inaccurately. Depressed dorsum of nose Depressed nasal dorsum Flat nasal dorsum - Retruded nasal ridge Recessed nasal ridge + Retruded nasal ridge Retruded dorsum of nose Flat dorsum of nose - Recessed nasal dorsum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Flat nasal dorsum - orcid.org/0000-0001-5889-4463 - Flat nasal dorsum + Recessed nasal ridge + ORCID:0000-0001-5889-4463 + - Flat nose + ORCID:0000-0001-5889-4463 + Recessed nasal dorsum - - Retruded nasal dorsum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Flat dorsum of nose - orcid.org/0000-0001-5889-4463 - Depressed nasal dorsum + Flat nose + Retruded nasal ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - HPO:probinson - Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. - pmid:19152422 + ORCID:0000-0001-5889-4463 + Depressed dorsum of nose - + - Recessed nasal ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Retruded nasal dorsum - - orcid.org/0000-0001-5889-4463 - Depressed dorsum of nose + ORCID:0000-0001-5889-4463 + Depressed nasal dorsum - Recessed dorsum of nose - orcid.org/0000-0001-5889-4463 + Retruded dorsum of nose + ORCID:0000-0001-5889-4463 - Retruded dorsum of nose - orcid.org/0000-0001-5889-4463 + HPO:probinson + Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. + pmid:19152422 - + - orcid.org/0000-0001-5889-4463 - Flat dorsum of nose + ORCID:0000-0001-5889-4463 + Recessed dorsum of nose @@ -22916,34 +24047,34 @@ applied inaccurately. Decreased nasal width - Narrow nose + Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. + pmid:19152422 - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thin nose - orcid.org/0000-0001-5889-4463 - Decreased nasal breadth + Decreased nasal width + ORCID:0000-0001-5889-4463 - Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. - pmid:19152422 + ORCID:0000-0001-5889-4463 + Decreased nasal breadth - + + - Decreased nasal width - orcid.org/0000-0001-5889-4463 + Narrow nose @@ -22998,17 +24129,17 @@ applied inaccurately. Upturned nostrils - orcid.org/0000-0001-5889-4463 - Upturned nares + Upturned nostrils + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Upturned nostrils + Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). + pmid:19152422 - - + Upturned nasal tip @@ -23017,10 +24148,16 @@ applied inaccurately. - Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). - pmid:19152422 + ORCID:0000-0001-5889-4463 + Upturned nares - + + + + HPO:skoehler + Upturned nasal tips + + Nasal tip, upturned @@ -23034,12 +24171,6 @@ applied inaccurately. - - HPO:skoehler - Upturned nasal tips - - - @@ -23083,37 +24214,37 @@ applied inaccurately. + Abnormality of the neck + + + + + + ORCID:0000-0001-5889-4463 Deformity of the neck - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Malformation of the neck - orcid.org/0000-0001-5889-4463 - Abnormality of the neck + An abnormality of the neck. + HPO:probinson - - + - orcid.org/0000-0001-5889-4463 Anomaly of the neck + ORCID:0000-0001-5889-4463 - - An abnormality of the neck. - HPO:probinson - - - @@ -23132,19 +24263,19 @@ applied inaccurately. Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. - - Webbed neck - - - - HPO:probinson - pmid:24523736 Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. + pmid:24523736 + + Webbed neck + + + + Neck webbing @@ -23173,7 +24304,7 @@ applied inaccurately. Limited cervical range of motion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -23215,19 +24346,12 @@ applied inaccurately. Flaccid neck - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Flaccid neck - - Floppy neck - orcid.org/0000-0001-5889-4463 - - - - Decreased strength of the neck musculature. HPO:probinson @@ -23240,6 +24364,13 @@ applied inaccurately. + + Floppy neck + ORCID:0000-0001-5889-4463 + + + + @@ -23286,18 +24417,18 @@ applied inaccurately. Increased fat around the neck - An increased amount of subcutaneous fat tissue around the neck. - HPO:probinson - - - - + ORCID:0000-0001-5889-4463 Increased fat around the neck - orcid.org/0000-0001-5889-4463 + + An increased amount of subcutaneous fat tissue around the neck. + HPO:probinson + + + @@ -23342,42 +24473,42 @@ applied inaccurately. - Diminished length of the neck. - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 - Cervical shortening + Short neck + - Short neck + Decreased cervical length + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased length of neck - Decreased cervical length - orcid.org/0000-0001-5889-4463 + Cervical shortening + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased cervical height - orcid.org/0000-0001-5889-4463 + + Diminished length of the neck. + HPO:probinson + + + @@ -23473,36 +24604,36 @@ applied inaccurately. - Elongated neck - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cervical elongation - - orcid.org/0000-0001-5889-4463 - Increased length of neck + HPO:probinson + Increased inferior-superior length of the neck. - - + - Cervical elongation - orcid.org/0000-0001-5889-4463 + Increased length of neck + ORCID:0000-0001-5889-4463 + Increased cervical length - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - HPO:probinson - Increased inferior-superior length of the neck. + ORCID:0000-0001-5889-4463 + Elongated neck - + + @@ -23531,24 +24662,24 @@ applied inaccurately. Wry neck - orcid.org/0000-0001-5889-4463 Wry neck + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Loxia - - - HPO:probinson Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. + + Loxia + ORCID:0000-0001-5889-4463 + + + @@ -23571,30 +24702,30 @@ applied inaccurately. - A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637). - HPO:probinson - pmid:16100637 + Thickened skin folds of neck + ORCID:0000-0001-5889-4463 - + + - Thickened skin over the neck - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Thickened nuchal skin - - Thickened skin folds of neck - orcid.org/0000-0001-5889-4463 + A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637). + HPO:probinson + pmid:16100637 - - + - Thickened nuchal skin - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Thickened skin over the neck + @@ -23636,37 +24767,37 @@ applied inaccurately. - Broad neck + ORCID:0000-0001-5889-4463 + Thick neck - + Wide neck - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Thick neck - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased width of neck - + - HPO:probinson - Increased side-to-side width of the neck. + Broad neck - + + - orcid.org/0000-0001-5889-4463 - Increased width of neck + HPO:probinson + Increased side-to-side width of the neck. - - + @@ -23779,14 +24910,14 @@ applied inaccurately. - HPO:skoehler - Abnormal eye + Abnormality of the eye - Abnormality of the eye + HPO:skoehler + Abnormal eye @@ -23835,15 +24966,15 @@ applied inaccurately. - Retina issue + HPO:skoehler + Abnormal retina - - Abnormal retina - HPO:skoehler + Retina issue + @@ -23900,14 +25031,14 @@ applied inaccurately. - Abnormality of the cornea + Abnormal cornea morphology - + @@ -23932,6 +25063,7 @@ applied inaccurately. UMLS:C1855670 UMLS:C4020889 human_phenotype + Abnormality of the cornea @@ -24027,7 +25159,7 @@ applied inaccurately. A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. DDD:ncarter HPO:probinson - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -24095,18 +25227,18 @@ applied inaccurately. - An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged cornea + + An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. + HPO:curators + + + @@ -24148,12 +25280,6 @@ applied inaccurately. Squint eyes - - Squint - - - - HPO:probinson Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other. @@ -24161,9 +25287,7 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Squint eyes - orcid.org/0000-0001-5208-3432 + Squint @@ -24174,6 +25298,14 @@ applied inaccurately. + + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + Squint eyes + + + + @@ -24189,7 +25321,7 @@ applied inaccurately. Cross-eyed present from birth - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cross-eyed present from birth @@ -24202,6 +25334,26 @@ applied inaccurately. Retinopathy + + + + + + + + + + + + + + + + + + + + Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. HP:0000488 @@ -24220,7 +25372,7 @@ applied inaccurately. Noninflammatory retina disease - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -24284,12 +25436,6 @@ applied inaccurately. Enophthalmos - - Deeply set eye - - - - An eye that is more deeply recessed into the plane of the face than is typical. pmid:19125427 @@ -24297,19 +25443,25 @@ applied inaccurately. - Deep set eye + Deep-set eyes - Deep-set eyes + Sunken eye - Sunken eye + Deeply set eye + + + + + + Deep set eye @@ -24333,18 +25485,18 @@ applied inaccurately. - HPO:curators - Inflammation of the cornea. - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Corneal inflammation + + HPO:curators + Inflammation of the cornea. + + + @@ -24382,18 +25534,18 @@ applied inaccurately. human_phenotype - - Abnormality of the eyelids - - - - An abnormality of the eyelids. HPO:probinson + + Abnormality of the eyelids + + + + Abnormality of the eyelid @@ -24494,10 +25646,9 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Downward slanting of the opening between the eyelids + Downslanting palpebral fissures + HPO:skoehler - @@ -24513,9 +25664,10 @@ applied inaccurately. - Downslanting palpebral fissures - HPO:skoehler + Downward slanting of the opening between the eyelids + ORCID:0000-0001-5889-4463 + @@ -24543,18 +25695,18 @@ applied inaccurately. UMLS:C4020888 human_phenotype - - HPO:curators - The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. - - - HPO:skoehler Recurrent corneal ulcerations + + HPO:curators + The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. + + + @@ -24605,36 +25757,34 @@ applied inaccurately. - Eye movement issue + Abnormal eye movements - Abnormal movement of the globe of the eye - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + Eye movement abnormalities + - Abnormal eye movement + Eye movement issue - Eye movement abnormalities + Abnormal eye movement - Abnormal motility of the globe of the eye - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + An abnormality in voluntary or involuntary eye movements or their control. + HPO:probinson - + Abnormality of eye movement @@ -24643,15 +25793,17 @@ applied inaccurately. - An abnormality in voluntary or involuntary eye movements or their control. - HPO:probinson + Abnormal movement of the globe of the eye + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - + - Abnormal eye movements + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Abnormal motility of the globe of the eye - @@ -24717,22 +25869,22 @@ applied inaccurately. Inflammation of eyelids - - Inflammation of eyelids - orcid.org/0000-0001-5889-4463 - - - - HPO:probinson Inflammation of the eyelids. + + ORCID:0000-0001-5889-4463 + Inflammation of eyelids + + + + Cellulitis of eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -24776,13 +25928,13 @@ applied inaccurately. - Eyelash abnormality + Abnormality of the eyelashes - Abnormality of the eyelashes + Eyelash abnormality @@ -24794,8 +25946,8 @@ applied inaccurately. - HPO:skoehler Abnormal eyelashes + HPO:skoehler @@ -24922,30 +26074,30 @@ applied inaccurately. - Abnormality of vision + Abnormality of eyesight (visual perception). + HPO:probinson - - + - Vision issue + ORCID:0000-0001-5889-4463 + Abnormality of sight + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - Abnormality of sight - orcid.org/0000-0001-5208-3432 + Abnormality of vision - Abnormality of eyesight (visual perception). - HPO:probinson + Vision issue - + + @@ -24996,25 +26148,19 @@ applied inaccurately. - Poor vision + Loss of eyesight - Loss of eyesight + Visual impairment - DDD:gblack - Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. - - - - - Visual impairment + Poor vision @@ -25025,6 +26171,12 @@ applied inaccurately. + + DDD:gblack + Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. + + + @@ -25067,8 +26219,8 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Increased distance between medial canthi + Increased intercanthal distance + ORCID:0000-0001-5889-4463 @@ -25079,16 +26231,16 @@ applied inaccurately. - Increased intercanthal distance - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Corners of eye widely separated + - orcid.org/0000-0001-5889-4463 - Corners of eye widely separated + Increased distance between medial canthi + ORCID:0000-0001-5889-4463 - @@ -25131,12 +26283,6 @@ applied inaccurately. Drooping upper eyelid - - The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). - pmid:19125427 - - - Eye drop @@ -25150,12 +26296,18 @@ applied inaccurately. - orcid.org/0000-0001-5208-3432 Drooping upper eyelid + ORCID:0000-0001-5208-3432 + + The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). + pmid:19125427 + + + @@ -25206,18 +26358,18 @@ applied inaccurately. human_phenotype - - HPO:probinson - Inflammation of the conjunctiva. - - - Conjunctivitis, recurrent HPO:skoehler + + HPO:probinson + Inflammation of the conjunctiva. + + + @@ -25347,26 +26499,26 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 Slow visual tracking + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - An abnormally slow velocity of the saccadic eye movements. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 Slow eye movements + + An abnormally slow velocity of the saccadic eye movements. + HPO:probinson + + + @@ -25412,6 +26564,12 @@ applied inaccurately. + + An abnormality of the lens. + HPO:probinson + + + Lens disease @@ -25424,12 +26582,6 @@ applied inaccurately. - - An abnormality of the lens. - HPO:probinson - - - @@ -25472,11 +26624,12 @@ applied inaccurately. UMLS:C1510497 human_phenotype Cloudy lens + Fyler:4865 Cloudy lens - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -25577,6 +26730,12 @@ applied inaccurately. Anterior bulging of the globe of eye + + Protruding eyes + + + + An eye that is protruding anterior to the plane of the face to a greater extent than is typical. HPO:sdoelken @@ -25585,33 +26744,27 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Eyeballs bulging out + Prominent globes - Prominent eyes + ORCID:0000-0001-5889-4463 + Eyeballs bulging out - Prominent globes + Prominent eyes - orcid.org/0000-0001-5889-4463 Bulging eye - - - - - - Protruding eyes + ORCID:0000-0001-5889-4463 @@ -25637,33 +26790,33 @@ applied inaccurately. + Absence of tear secretion. + HPO:probinson + + + + + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 Absence of tears in the eyes - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent tear secretion + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 Absent lacrimal fluids + ORCID:0000-0001-5208-3432 - - Absence of tear secretion. - HPO:probinson - - - @@ -25779,18 +26932,18 @@ applied inaccurately. Abnormality of the iris - - Abnormality of the iris - - - - An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. HPO:probinson + + Abnormality of the iris + + + + @@ -25829,18 +26982,18 @@ applied inaccurately. - Congenital absence of the iris. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent iris + + Congenital absence of the iris. + HPO:probinson + + + @@ -25882,17 +27035,17 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased length of eyelashes - Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). - pmid:19125427 + Long eyelashes - + + Unusually long eyelashes @@ -25901,10 +27054,10 @@ applied inaccurately. - Long eyelashes + Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). + pmid:19125427 - - + @@ -25947,6 +27100,7 @@ applied inaccurately. UMLS:C0003119 human_phenotype Missing globe of eye + Fyler:4864 No globe of eye Absence of eyeballs No eyeball @@ -25957,68 +27111,68 @@ applied inaccurately. - Failure of development of eyeball - orcid.org/0000-0001-5889-4463 + Absence of the globe or eyeball. + DDD:ncarter + + + + + ORCID:0000-0001-5208-3432 + Ocular absence + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 No eyeball - Missing globe of eye - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + Absence of eyeballs + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Absence of eyeballs + Missing eyeball + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 No globe of eye - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Missing eyeball + Failure of development of eyeball + ORCID:0000-0001-5889-4463 Absence of globes of eyes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Ocular absence - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Missing globe of eye + ORCID:0000-0001-5889-4463 - - Absence of the globe or eyeball. - DDD:ncarter - - - @@ -26048,14 +27202,19 @@ applied inaccurately. - Progressive visual impairment + Slowly progressive visual loss - HPO:skoehler - Vision loss, progressive + Progressive loss of vision + + + + + + Progressive vision loss @@ -26067,34 +27226,29 @@ applied inaccurately. - Visual loss, progressive + Vision loss, progressive + HPO:skoehler - A reduction of previously attained ability to see. - HPO:probinson - - - - - Progressive vision loss + Progressive visual impairment - Progressive loss of vision + Visual loss, progressive - Slowly progressive visual loss + A reduction of previously attained ability to see. + HPO:probinson - - + @@ -26271,18 +27425,18 @@ applied inaccurately. human_phenotype - - Decreased density/number and/or decreased diameter of eyebrow hairs. - pmid:19125427 - - - Sparse and thin eyebrow + + Decreased density/number and/or decreased diameter of eyebrow hairs. + pmid:19125427 + + + Thin, sparse eyebrows @@ -26373,10 +27527,10 @@ applied inaccurately. - Farsightedness + An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. + HPO:probinson - - + Long-sightedness @@ -26385,10 +27539,10 @@ applied inaccurately. - An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. - HPO:probinson + Farsightedness - + + @@ -26495,12 +27649,6 @@ applied inaccurately. human_phenotype - - Disc pallor - HPO:skoehler - - - A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. HPO:probinson @@ -26513,6 +27661,12 @@ applied inaccurately. + + Disc pallor + HPO:skoehler + + + HPO:skoehler Pale optic discs @@ -26544,38 +27698,38 @@ applied inaccurately. Chronic progressive external ophthalmoplegia - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Progressive paralysis or weakness of muscles of eye motility + HPO:probinson + Paralysis of the external ocular muscles. - + - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - CPEO - HPO:skoehler + ORCID:0000-0001-5208-3432 + Progressive paralysis or weakness of muscles of eye movement + ORCID:0000-0001-5889-4463 - - HPO:probinson - Paralysis of the external ocular muscles. + Chronic progressive external ophthalmoplegia + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - + - Chronic progressive external ophthalmoplegia - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + HPO:skoehler + ORCID:0000-0001-5208-3432 + CPEO + - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Progressive paralysis or weakness of muscles of eye movement + Progressive paralysis or weakness of muscles of eye motility + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 @@ -26603,28 +27757,20 @@ applied inaccurately. Close sighted - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 Near sightedness - - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Near sighted - - - - Nearsightedness @@ -26637,6 +27783,14 @@ applied inaccurately. + + ORCID:0000-0001-5208-3432 + Near sighted + ORCID:0000-0001-5889-4463 + + + + @@ -26677,8 +27831,8 @@ applied inaccurately. + ORCID:0000-0001-5208-3432 Retina degeneration - orcid.org/0000-0001-5208-3432 @@ -26686,7 +27840,7 @@ applied inaccurately. A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. HPO:probinson - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -26799,19 +27953,27 @@ applied inaccurately. Loss in color vision - Color vision defect + Abnormal color vision + + + + + + Color vision defect, severe + HPO:skoehler - Abnormality of color vision + HPO:skoehler + Color vision defects - + - Abnormal color vision + Abnormality of color vision @@ -26823,15 +27985,7 @@ applied inaccurately. - Color vision defect, severe - HPO:skoehler - - - - - - Color vision defects - HPO:skoehler + Color vision defect @@ -26858,9 +28012,15 @@ applied inaccurately. Blue yellow color blindness - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + Blue/yellow color vision defect + HPO:skoehler + + + + + ORCID:0000-0001-5208-3432 Blue yellow color blindness + ORCID:0000-0001-5889-4463 @@ -26871,12 +28031,6 @@ applied inaccurately. - - Blue/yellow color vision defect - HPO:skoehler - - - @@ -26988,22 +28142,22 @@ applied inaccurately. White pupillary reflex - An abnormal white reflection from the pupil rather than the usual black reflection. - HPO:probinson + Leukokoria + ORCID:0000-0001-6908-9849 - + - orcid.org/0000-0001-6908-9849 White pupillary reflex + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 - Leukokoria + An abnormal white reflection from the pupil rather than the usual black reflection. + HPO:probinson - + @@ -27045,8 +28199,8 @@ applied inaccurately. Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. - UManchester:psergouniotis Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. + ORCID:0000-0003-0986-4123 @@ -27073,9 +28227,9 @@ applied inaccurately. - https://en.wikipedia.org/wiki/buphthalmos - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged eyeball + https://en.wikipedia.org/wiki/buphthalmos @@ -27192,30 +28346,30 @@ applied inaccurately. - Aplasia of eyelashes - orcid.org/0000-0001-5889-4463 + HPO:curators + Lack of eyelashes. + pmid:19125427 - + - orcid.org/0000-0001-5889-4463 Agenesis of eyelashes + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of eyelashes + ORCID:0000-0001-5889-4463 + Aplasia of eyelashes - - + - HPO:curators - Lack of eyelashes. - pmid:19125427 + Failure of development of eyelashes + ORCID:0000-0001-5889-4463 - + + @@ -27237,14 +28391,14 @@ applied inaccurately. + ORCID:0000-0001-5208-3432 Bulging cornea - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Conical cornea @@ -27293,19 +28447,19 @@ applied inaccurately. human_phenotype Unopened tear duct - - A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. - HPO:probinson - - - Unopened tear duct - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + + A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. + HPO:probinson + + + @@ -27315,7 +28469,6 @@ applied inaccurately. Esotropia A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. - Convergent strabismus HP:0000565 MSH:D004948 SNOMEDCT_US:16596007 @@ -27325,19 +28478,19 @@ applied inaccurately. Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. - - Inward turning cross eyed - http://orcid.org/0000-0001-5208-3432 - - - - A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. HPO:probinson + + Inward turning cross eyed + ORCID:0000-0001-5208-3432 + + + + @@ -27429,10 +28582,18 @@ applied inaccurately. human_phenotype Abnormally small globe of eye Abnormally small eyeball + Fyler:4877 Decreased size of eyeball Decreased size of globe of eye + + Decreased size of eyeball + ORCID:0000-0001-5889-4463 + + + + A developmental anomaly characterized by abnormal smallness of one or both eyes. HPO:probinson @@ -27440,27 +28601,20 @@ applied inaccurately. - orcid.org/0000-0001-5889-4463 - Decreased size of globe of eye + ORCID:0000-0001-5889-4463 + Abnormally small globe of eye - + - orcid.org/0000-0001-5889-4463 - Decreased size of eyeball + Decreased size of globe of eye + ORCID:0000-0001-5889-4463 - - Abnormally small globe of eye - orcid.org/0000-0001-5889-4463 - - - - + ORCID:0000-0001-5889-4463 Abnormally small eyeball - orcid.org/0000-0001-5889-4463 @@ -27526,13 +28680,6 @@ applied inaccurately. human_phenotype Vision loss - - HPO:skoehler - Vision loss - - - - Loss of vision @@ -27540,7 +28687,8 @@ applied inaccurately. - Visual loss + HPO:skoehler + Vision loss @@ -27551,6 +28699,12 @@ applied inaccurately. + + Visual loss + + + + @@ -27590,6 +28744,7 @@ applied inaccurately. + HP:0000573 Hemorrhage occurring within the retina. MSH:D012166 @@ -27601,12 +28756,6 @@ applied inaccurately. The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. - - Retinal bleeding - - - - HPO:gcarletti Hemorrhage occurring within the retina. @@ -27615,11 +28764,17 @@ applied inaccurately. Retinal hemorrhages - orcid.org/0000-0002-0736-9199 + ORCID:0000-0002-0736-9199 + + Retinal bleeding + + + + @@ -27665,26 +28820,26 @@ applied inaccurately. - Thick eyebrow + Dense eyebrow HPO:skoehler - Thick eyebrows + Hypertrichosis of the eyebrows - - + - Increased density/number and/or increased diameter of eyebrow hairs. - pmid:19125427 + Bushy eyebrows - + + - Dense eyebrow + HPO:skoehler + Thick eyebrows @@ -27695,12 +28850,6 @@ applied inaccurately. - - HPO:skoehler - Hypertrichosis of the eyebrows - - - Heavy eyebrows @@ -27708,11 +28857,17 @@ applied inaccurately. - Bushy eyebrows + Thick eyebrow + + Increased density/number and/or increased diameter of eyebrow hairs. + pmid:19125427 + + + @@ -27740,7 +28895,7 @@ applied inaccurately. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Blind spot @@ -27783,12 +28938,11 @@ applied inaccurately. UMLS:C0015310 human_phenotype Outward facing eye ball - Divergent strabismus Outward facing eye ball - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -27873,8 +29027,8 @@ applied inaccurately. An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. - UManchester:psergouniotis An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. + ORCID:0000-0003-0986-4123 @@ -27919,8 +29073,15 @@ applied inaccurately. + Narrow opening between the eyelids + ORCID:0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 Decreased width of palpebral fissure - orcid.org/0000-0001-5889-4463 @@ -27930,13 +29091,6 @@ applied inaccurately. - - Narrow opening between the eyelids - orcid.org/0000-0001-5889-4463 - - - - @@ -27966,18 +29120,18 @@ applied inaccurately. - The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. - pmid:19125427 - - - - + ORCID:0000-0001-5889-4463 Upward slanting of the opening between the eyelids - orcid.org/0000-0001-5889-4463 + + The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. + pmid:19125427 + + + @@ -28053,27 +29207,21 @@ applied inaccurately. Shallow eye sockets - Small shallow orbits - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased depth of orbits - true - - - - - + ORCID:0000-0001-5889-4463 Shallow eye sockets - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased depth of eye sockets - orcid.org/0000-0001-5889-4463 @@ -28085,11 +29233,17 @@ applied inaccurately. - Decreased depth of orbits - orcid.org/0000-0001-5889-4463 + Small shallow orbits + ORCID:0000-0001-5889-4463 + + true + + + + @@ -28228,19 +29382,20 @@ applied inaccurately. UMLS:C0009363 human_phenotype Notched pupil + Fyler:4311 - - A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. - HPO:probinson - - - Notched pupil + + A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. + HPO:probinson + + + @@ -28301,19 +29456,19 @@ applied inaccurately. Abnormality of the sclera - - Abnormality of the outer white part of eyeball - orcid.org/0000-0001-5208-3432 - - - - An abnormality of the sclera. HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormality of the outer white part of eyeball + + + + @@ -28353,18 +29508,18 @@ applied inaccurately. - An abnormal bluish coloration of the sclera. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Blue outer white part of eyeball - orcid.org/0000-0001-5208-3432 + + An abnormal bluish coloration of the sclera. + HPO:probinson + + + @@ -28462,8 +29617,8 @@ applied inaccurately. Weakness of extraocular eye movement - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 Weakness of extraocular eye movement @@ -28512,18 +29667,18 @@ applied inaccurately. human_phenotype - - Abnormality of the ear - - - - An abnormality of the ear. HPO:probinson + + Abnormality of the ear + + + + @@ -28543,23 +29698,23 @@ applied inaccurately. An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. - Abnormality of the frontal hairline + ORCID:0000-0001-5889-4463 + Abnormality of hairline at front of head - HPO:probinson - An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. + Abnormality of the frontal hairline - + + - Abnormality of hairline at front of head - orcid.org/0000-0001-5889-4463 + An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. + HPO:probinson - - + @@ -28597,8 +29752,8 @@ applied inaccurately. to esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. - An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. HPO:probinson + An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. @@ -28646,49 +29801,49 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 - Decreased interpupillary distance + Decreased orbital separation + ORCID:0000-0001-5889-4463 - HPO:probinson - Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). - pmid:19125427 - - - - - orcid.org/0000-0001-5889-4463 - Decreased orbital separation + ORCID:0000-0001-5889-4463 + Abnormally close eyes + - Abnormally close eyes - orcid.org/0000-0001-5889-4463 + Closely spaced eyes - orcid.org/0000-0001-5889-4463 - Decreased distance between eyes + Decreased interpupillary distance + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased distance between eye sockets - orcid.org/0000-0001-5889-4463 - Closely spaced eyes + Decreased distance between eyes + ORCID:0000-0001-5889-4463 - + + HPO:probinson + Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). + pmid:19125427 + + + @@ -28727,25 +29882,25 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Eye muscle paralysis - Paralysis of extraocular eye movement - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + HPO:probinson + Paralysis of one or more extraocular muscles that are responsible for eye movements. - + - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 Eye muscle paralysis + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - HPO:probinson - Paralysis of one or more extraocular muscles that are responsible for eye movements. + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Paralysis of extraocular eye movement - + @@ -28767,18 +29922,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - An area of depressed vision located at the point of fixation and that interferes with central vision. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Blind spot located at fixation point - orcid.org/0000-0001-5208-3432 + + An area of depressed vision located at the point of fixation and that interferes with central vision. + HPO:probinson + + + @@ -28839,43 +29994,43 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormality of the region around the eye socket - orcid.org/0000-0001-5889-4463 - Malformation of the periorbital region - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of the region around the eye - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Anomaly of the periorbital region - An abnormality of the region situated around the orbit of the eye. - HPO:probinson + ORCID:0000-0001-5889-4463 + Deformity of the periorbital region - + + ORCID:0000-0001-5889-4463 Abnormality of the region around the eye socket - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deformity of the periorbital region + ORCID:0000-0001-5889-4463 + Malformation of the periorbital region + + An abnormality of the region situated around the orbit of the eye. + HPO:probinson + + + @@ -28914,16 +30069,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Periorbital rhytids - orcid.org/0000-0001-5889-4463 - Wrinkles around the eyes + Periorbital rhytids + ORCID:0000-0001-5889-4463 - - Periorbital rhytids - orcid.org/0000-0001-5889-4463 + Wrinkles around the eyes + ORCID:0000-0001-5889-4463 + @@ -28966,7 +30121,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. HPO:probinson - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -29009,7 +30164,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Underdeveloped optic nerves - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped optic nerves @@ -29118,8 +30273,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-6908-9849 Cat eye - http://orcid.org/0000-0001-6908-9849 @@ -29174,14 +30329,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Light hypersensitivity - - Extreme sensitivity of the eyes to light - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - - - - Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. HPO:probinson @@ -29194,6 +30341,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Extreme sensitivity of the eyes to light + + + + @@ -29289,18 +30444,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - An abnormality of the pupil. - HPO:probinson - - - Abnormality of the pupil + + An abnormality of the pupil. + HPO:probinson + + + @@ -29319,13 +30474,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Constricted pupils - - HPO:orcid.org/0000-0001-5889-4463 - Constricted pupils - - - - Abnormal (non-physiological) constriction of the pupil. HPO:probinson @@ -29333,8 +30481,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:orcid.org/0000-0001-5889-4463 + Constricted pupils + ORCID:0000-0001-5889-4463 + + + + + Pupillary constriction + ORCID:0000-0001-5889-4463 @@ -29404,6 +30559,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0456909 Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. human_phenotype + Fyler:4866 @@ -29412,18 +30568,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Blindness - - - - Blindness is the condition of lacking visual perception due to physiological or neurological factors. DDD:gblack + + Blindness + + + + @@ -29466,9 +30622,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Infection of the lacrimal sac - Infection of the lacrimal sac - orcid.org/0000-0001-5208-3432 https://en.wikipedia.org/wiki/dacryocystitis + Infection of the lacrimal sac + ORCID:0000-0001-5208-3432 @@ -29500,31 +30656,31 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Eyelid folded in - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Eyelid turned in + An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. + pmid:19125427 + ORCID:0000-0003-0986-4123 - - + - orcid.org/0000-0001-5889-4463 Inverted eyelid + ORCID:0000-0001-5889-4463 - An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. - pmid:19125427 - UManchester:psergouniotis + Eyelid turned in + ORCID:0000-0001-5889-4463 - + + @@ -29545,18 +30701,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - HPO:probinson - Lack of sharpness of vision resulting in the inability to see fine detail. - - - Blurred vision + + HPO:probinson + Lack of sharpness of vision resulting in the inability to see fine detail. + + + @@ -29572,9 +30728,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - pmid:20629667 HPO:probinson A vertical gaze palsy with inability to direct the gaze of the eyes downwards. + pmid:20629667 @@ -29618,6 +30774,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Full thickness defect of the eyelid + + ORCID:0000-0001-5889-4463 + Full thickness defect of the eyelid + + + Cleft eyelid @@ -29625,9 +30787,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Full thickness defect of the eyelid - orcid.org/0000-0001-5889-4463 + Notched eyelid + @@ -29636,12 +30798,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Notched eyelid - - - - @@ -29685,7 +30841,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Fullness around the eyes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -29743,10 +30899,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Retinal arterial abnormality + true - - + + Abnormality of retinal arteries @@ -29755,10 +30911,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - true + Retinal arterial abnormality - - + + @@ -29819,18 +30975,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4021801 human_phenotype - - Abnormality of tear production. - HPO:probinson - - - Abnormality of tear production + + Abnormality of tear production. + HPO:probinson + + + @@ -29852,8 +31008,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 Decreased tear secretion + ORCID:0000-0001-5208-3432 @@ -29892,18 +31048,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0578626 human_phenotype - - Blue eyes - - - - A markedly blue coloration of the iris. HPO:probinson + + Blue eyes + + + + @@ -29943,13 +31099,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Cleft upper eyelid - A short discontinuity of the margin of the upper eyelid. - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Notched upper eyelid @@ -29957,17 +31107,23 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Full thickness defect of the upper eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Cleft upper eyelid + ORCID:0000-0001-5889-4463 + + A short discontinuity of the margin of the upper eyelid. + HPO:probinson + + + @@ -30011,25 +31167,32 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5889-4463 Long opening between the eyelids - orcid.org/0000-0001-5889-4463 - Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. - pmid:19125427 + Wide opening between the eyelids + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Broad opening between the eyelids + + Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. + pmid:19125427 + + + HPO:skoehler Wide palpebral fissure @@ -30044,15 +31207,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Broad palpebral fissure - orcid.org/0000-0001-5889-4463 - - - - - Wide opening between the eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - @@ -30136,26 +31292,26 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. - pmid:572501 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 Dysmetric eye movements - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Uncoordinated eye movement + + HPO:probinson + The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. + pmid:572501 + + + @@ -30179,8 +31335,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Red green color blindness - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 @@ -30219,16 +31375,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Involuntary closure of eyelid - Spontaneous closure of eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Eyelid twitching - Eyelid spasm - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + Spontaneous closure of eyelid + ORCID:0000-0001-5889-4463 @@ -30240,16 +31396,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Eyelid twitching + ORCID:0000-0001-5208-3432 + Eyelid spasm + ORCID:0000-0001-5889-4463 Involuntary closure of eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -30281,9 +31437,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Lazy eye - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + Wandering eye @@ -30295,9 +31451,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 - Wandering eye - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Lazy eye @@ -30427,18 +31583,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Double vision - - - - Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. HPO:probinson + + Double vision + + + + @@ -30478,6 +31634,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Full thickness defect of the lower eyelid Notched lower eyelid + + Full thickness defect of the lower eyelid + ORCID:0000-0001-5889-4463 + + + A short discontinuity of the margin of the lower eyelid. HPO:probinson @@ -30485,21 +31647,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5889-4463 Cleft lower eyelid - orcid.org/0000-0001-5889-4463 - Full thickness defect of the lower eyelid - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 Notched lower eyelid + ORCID:0000-0001-5889-4463 @@ -30552,41 +31708,35 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 Hypotrichosis of eyelashes + ORCID:0000-0001-5889-4463 - Sparse eyelashes + Partial absence of eyelashes + ORCID:0000-0001-5889-4463 - - Decreased density/number of eyelashes. - pmid:19125427 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thin eyelashes - Scanty eyelashes + Sparse eyelashes - orcid.org/0000-0001-5889-4463 - Partial absence of eyelashes + Decreased density/number of eyelashes. + pmid:19125427 - + Scant eyelashes @@ -30594,6 +31744,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Scanty eyelashes + + + + @@ -30644,7 +31800,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas HPO:probinson Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. PMID:18179896 - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -30690,31 +31846,31 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Eyelid folded out - orcid.org/0000-0001-5889-4463 + An outward turning (eversion) or rotation of the eyelid margin. + pmid:19125427 - - + - Eyelid turned out - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Everted eyelid - + - Everted eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Eyelid folded out - + - An outward turning (eversion) or rotation of the eyelid margin. - pmid:19125427 + ORCID:0000-0001-5889-4463 + Eyelid turned out - + + @@ -30782,8 +31938,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Difficulty opening the eyelids + ORCID:0000-0001-5889-4463 Difficulty opening the eyelids - orcid.org/0000-0001-5889-4463 @@ -30876,30 +32032,30 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Night blindness + Night-blindness - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - Poor night vision + Difficulties with night vision - + - Night-blindness + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Poor night vision - Difficulties with night vision + Night blindness - + @@ -30921,19 +32077,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Monobrow - - orcid.org/0000-0001-5889-4463 - Monobrow - - - - Meeting of the medial eyebrows in the midline. pmid:19125427 + + ORCID:0000-0001-5889-4463 + Monobrow + + + + Unibrow @@ -31025,25 +32181,25 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 Failure of development of between one and six teeth + ORCID:0000-0001-5889-4463 - A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing. - HPO:ibailleulforestier - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Missing between one and six teeth + + A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing. + HPO:ibailleulforestier + + + @@ -31075,20 +32231,21 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 - Tooth cavities + Dental decay - + - orcid.org/0000-0001-5889-4463 - Cariosity of teeth + ORCID:0000-0001-5889-4463 + Tooth cavities + - Dental decay + Rotting teeth + ORCID:0000-0001-5889-4463 @@ -31100,25 +32257,24 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 Tooth decay + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Dental cavities - Rotting teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cariosity of teeth - - + @@ -31168,55 +32324,55 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Complete agenesis of all teeth - orcid.org/0000-0001-5889-4463 - Complete agenesis of all teeth + Missing all teeth + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Anodontia vera + Failure of development of all teeth + ORCID:0000-0001-5889-4463 + - HPO:ibailleulforestier - The congenital absence of all teeth. - - - - - orcid.org/0000-0001-5889-4463 Total absence of all teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Total anodontia + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anodontia vera + + + + + ORCID:0000-0001-5889-4463 Complete anodontia - orcid.org/0000-0001-5889-4463 - Failure of development of all teeth + HPO:ibailleulforestier + The congenital absence of all teeth. - - + - orcid.org/0000-0001-5889-4463 - Missing all teeth + ORCID:0000-0001-5889-4463 + Complete agenesis of all teeth - - + @@ -31266,44 +32422,38 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Increased size of permanent upper central incisor - orcid.org/0000-0001-5889-4463 - Large permanent upper central incisor - - - - - orcid.org/0000-0001-5889-4463 Increased size of permanent upper central incisor + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased width of permanent maxillary central incisor + Hyperplasia of permanent maxillary central incisor + ORCID:0000-0001-5889-4463 - + Hypertrophy of permanent maxillary central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Large permanent maxillary central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased width of permanent upper central incisor - + - Hyperplasia of permanent maxillary central incisor - orcid.org/0000-0001-5889-4463 + Large permanent upper central incisor + ORCID:0000-0001-5889-4463 - Increased size of permanent maxillary central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Large permanent maxillary central incisor @@ -31314,8 +32464,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Increased width of permanent upper central incisor - orcid.org/0000-0001-5889-4463 + Increased size of permanent maxillary central incisor + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 + Increased width of permanent maxillary central incisor @@ -31380,7 +32536,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Failure of development of more than six teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Missing more than six teeth @@ -31388,7 +32544,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Number of teeth decreased by more than six - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -31401,8 +32557,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5889-4463 Failure of development of more than six teeth - orcid.org/0000-0001-5889-4463 @@ -31454,19 +32610,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Tooth size discrepancy - - Tooth size discrepancy - orcid.org/0000-0001-5889-4463 - - - - - - Crowded teeth - - - - Dental overcrowding @@ -31480,14 +32623,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Inadequate arch length for tooth size - orcid.org/0000-0001-5889-4463 + Tooth size discrepancy + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 Overcrowding of teeth + ORCID:0000-0001-5889-4463 @@ -31499,7 +32643,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 + Crowded teeth + + + + + + ORCID:0000-0001-5889-4463 + Inadequate arch length for tooth size + + + + + ORCID:0000-0001-5889-4463 Tooth mass arch size discrepancy @@ -31558,8 +32714,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5889-4463 Large elongated pulp chamber - orcid.org/0000-0001-5889-4463 @@ -31570,8 +32726,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5889-4463 Taurodont - orcid.org/0000-0001-5889-4463 @@ -31617,44 +32773,44 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Delayed eruption of milk teeth - Delayed eruption of milk teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Late eruption of baby teeth - Delayed tooth eruption affecting the primary dentition. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Delayed eruption of milk teeth - + + - orcid.org/0000-0001-5889-4463 - Late eruption of baby teeth + Late eruption of primary teeth + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 Delayed eruption of baby teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Late eruption of milk teeth + ORCID:0000-0001-5889-4463 - Late eruption of primary teeth - orcid.org/0000-0001-5889-4463 + Delayed tooth eruption affecting the primary dentition. + HPO:ibailleulforestier - + @@ -31713,49 +32869,55 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Enamel abnormalities + true - - + + - An abnormality of the dental enamel. - HPO:probinson + Enamel abnormality - + + - Malformation of dental enamel - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of tooth enamel - orcid.org/0000-0001-5889-4463 - Malformation of tooth enamel + Enamel abnormalities + + + + Dystrophic tooth enamel + ORCID:0000-0001-5889-4463 + - Enamel abnormality + An abnormality of the dental enamel. + HPO:probinson - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Defective tooth enamel - true + Malformation of dental enamel + ORCID:0000-0001-5889-4463 - - + + Abnormal tooth enamel @@ -31763,12 +32925,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - orcid.org/0000-0001-5889-4463 - Dystrophic tooth enamel - - - @@ -31809,17 +32965,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Gray colored tooth enamel - Gray tooth shade - orcid.org/0000-0001-5889-4463 + Grayish enamel + - - A grey discoloration of the dental enamel. - HPO:ibailleulforestier - - - Greyish enamel @@ -31827,16 +32977,22 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Gray colored tooth enamel - Grayish enamel + A grey discoloration of the dental enamel. + HPO:ibailleulforestier + + + + + Gray tooth shade + ORCID:0000-0001-5889-4463 - @@ -31868,6 +33024,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + Delayed eruption of teeth + + + + Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. HPO:ibailleulforestier @@ -31876,43 +33038,37 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Delayed eruption - - - - - - Late tooth eruption + Delayed teeth eruption - Delayed tooth eruption + Delayed eruption - Delayed eruption of teeth + Late eruption of teeth - Delayed teeth eruption + Eruption, delayed - Late eruption of teeth + Delayed tooth eruption - Eruption, delayed + Late tooth eruption @@ -31958,14 +33114,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Underdevelopment of teeth - Decreased size of teeth - orcid.org/0000-0001-5889-4463 - - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of teeth @@ -31977,6 +33126,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Decreased size of teeth + ORCID:0000-0001-5889-4463 + + + + @@ -32005,7 +33161,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Widely spaced teeth + Wide-spaced teeth @@ -32017,20 +33173,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Wide-spaced teeth + Widely spaced teeth - orcid.org/0000-0001-5889-4463 - Generalized spacing of teeth + ORCID:0000-0001-5889-4463 + Generalized dental spacing - orcid.org/0000-0001-5889-4463 - Generalized dental spacing + ORCID:0000-0001-5889-4463 + Generalized spacing of teeth @@ -32085,31 +33241,24 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Malalignment of upper and lower dental arches - Bad bite - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malalignment of upper and lower dental arches - orcid.org/0000-0001-5889-4463 - Malalignment of upper and lower dental arches + Malocclusion of teeth + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Incorrect relation between upper and lower dental arches - - orcid.org/0000-0001-5889-4463 - Angle class 2 malocclusion - - - Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. HPO:curators @@ -32117,20 +33266,27 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 - Malocclusion of teeth + ORCID:0000-0001-5889-4463 + Angle class 2 malocclusion + + + + ORCID:0000-0001-5889-4463 + Misalignment of upper and lower dental arches + + + ORCID:0000-0001-5889-4463 Angle class 3 malocclusion - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Misalignment of upper and lower dental arches + ORCID:0000-0001-5889-4463 + Bad bite @@ -32177,42 +33333,42 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Failure of development of maxillary lateral incisor - Absence of upper lateral incisor - orcid.org/0000-0001-5889-4463 + Missing upper lateral incisor + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of maxillary lateral incisor - Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Absence of maxillary lateral incisor - + - orcid.org/0000-0001-5889-4463 - Missing upper lateral incisor + Missing maxillary lateral incisor + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Missing maxillary lateral incisor + ORCID:0000-0001-5889-4463 + Absence of upper lateral incisor + - orcid.org/0000-0001-5889-4463 - Absence of maxillary lateral incisor + Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. + HPO:ibailleulforestier - + @@ -32258,38 +33414,38 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5889-4463 Decreased width of tooth - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Small tooth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hypotrophic tooth + Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. + HPO:ibailleulforestier + pmid:19125428 - + + ORCID:0000-0001-5889-4463 Decreased size of tooth - orcid.org/0000-0001-5889-4463 - Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. - HPO:ibailleulforestier - pmid:19125428 + Hypotrophic tooth + ORCID:0000-0001-5889-4463 - + @@ -32339,75 +33495,75 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1852504 UMLS:C4280610 human_phenotype - Crooked teeth Abnormality of position of teeth + Crooked teeth Abnormality of alignment of teeth - Abnormality of alignment of teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Crooked teeth - orcid.org/0000-0001-5889-4463 - Crooked teeth + Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. + HPO:ibailleulforestier - - + - Malpositioned teeth + Malposition of teeth - Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. - HPO:ibailleulforestier + Abnormality of teeth spacing - + + - Abnormal teeth spacing + ORCID:0000-0001-5889-4463 + Abnormality of alignment of teeth - Abnormality of teeth spacing + Abnormality of position of teeth + ORCID:0000-0001-5889-4463 - + - Malaligned teeth + Misalignment of teeth - Malposition of teeth + Malpositioned teeth - Abnormal dental position + Abnormal teeth spacing - Abnormality of position of teeth - orcid.org/0000-0001-5889-4463 + Malaligned teeth - + - Misalignment of teeth + Abnormal dental position @@ -32430,14 +33586,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Teeth with dentinal dysplasia + ORCID:0000-0001-5889-4463 Teeth with type iii dentinogenesis imperfecta - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 - Teeth with thin dentin and large pulp chambers @@ -32448,8 +33598,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Teeth with thin dentin and large pulp chambers + + + + Teeth with dentinal dysplasia + ORCID:0000-0001-5889-4463 @@ -32475,25 +33631,25 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Erupted tooth or teeth at birth. - pmid:19125428 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Teeth present at birth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Born with teeth + + Erupted tooth or teeth at birth. + pmid:19125428 + + + @@ -32533,23 +33689,23 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Delayed eruption of adult teeth - Delayed tooth eruption affecting the secondary dentition. - HPO:ibailleulforestier + Delayed eruption of permanent teeth - + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Delayed eruption of adult teeth - Delayed eruption of permanent teeth + Delayed tooth eruption affecting the secondary dentition. + HPO:ibailleulforestier - - + @@ -32597,41 +33753,41 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Peg shaped tooth - orcid.org/0000-0001-5889-4463 + Shark tooth + ORCID:0000-0001-5889-4463 - + - Cone shaped tooth - orcid.org/0000-0001-5889-4463 + Conoid tooth + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Conoid tooth + An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. + HPO:ibailleulforestier - + Pointed tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Peg shaped tooth - + + - Shark tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cone shaped tooth @@ -32659,39 +33815,39 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Diastema of the teeth - orcid.org/0000-0001-5889-4463 + Dental diastema + ORCID:0000-0001-5889-4463 - Increased space between two adjacent teeth in the same dental arch. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Dental diastasis - + - orcid.org/0000-0001-5889-4463 - Diastasis of the teeth + Increased space between two adjacent teeth in the same dental arch. + pmid:19125428 - + - orcid.org/0000-0001-5889-4463 Gaps between teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Dental diastasis + Diastema of the teeth + ORCID:0000-0001-5889-4463 - Dental diastema - orcid.org/0000-0001-5889-4463 + Diastasis of the teeth + ORCID:0000-0001-5889-4463 @@ -32724,15 +33880,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Periapical radiolucency - orcid.org/0000-0001-5889-4463 - Periapical granuloma - - - - - Periapical lesion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Dark spot around tooth root on x-ray + @@ -32742,23 +33893,28 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + Periapical cyst + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 Bone loss around tooth root - orcid.org/0000-0001-5889-4463 - Periapical cyst - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Periapical granuloma - orcid.org/0000-0001-5889-4463 - Dark spot around tooth root on x-ray + ORCID:0000-0001-5889-4463 + Periapical lesion - @@ -32878,13 +34034,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Pyorrhea - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Gum disease + ORCID:0000-0001-5889-4463 @@ -32958,20 +34114,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Pseudo-anodontia - orcid.org/0000-0001-5889-4463 - Unerupted dentition - - - - + ORCID:0000-0001-5889-4463 Failure of eruption of tooth - orcid.org/0000-0001-5889-4463 - - - - - - Unerupted tooth @@ -32982,6 +34126,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + ORCID:0000-0001-5889-4463 + Unerupted dentition + + + + + Unerupted tooth + + + + @@ -33024,12 +34180,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Brain and/or spinal cord issue - - Abnormality of the nervous system - - - - An abnormality of the nervous system. HPO:probinson @@ -33037,23 +34187,29 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Neurologic abnormalities + Neurological abnormality - Brain and/or spinal cord issue + Abnormality of the nervous system - + - Neurological abnormality + Neurologic abnormalities + + Brain and/or spinal cord issue + + + + @@ -33106,37 +34262,37 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Behavioral symptoms + Psychiatric disturbances - + - Behavioral/psychiatric abnormalities + Behavioral problems - Behavioural/Psychiatric abnormality + Behavioral disorders - Behavioral changes + Behavioral abnormality - Psychiatric disorders + An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. + HPO:probinson - - + - Behavioral problems + Psychiatric disorders @@ -33148,28 +34304,28 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Behavioral disorders + Behavioral symptoms - + - Psychiatric disturbances + Behavioral changes - Behavioral abnormality + Behavioural/Psychiatric abnormality - An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. - HPO:probinson + Behavioral/psychiatric abnormalities - + + @@ -33276,16 +34432,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. - Emotional instability + Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. + PMID:23902698 - - + - PMID:23902698 - Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. + Emotional instability - + + @@ -33453,29 +34609,29 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Aggressiveness + Aggressive behavior - Aggressive behavior + Aggressiveness - - Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. - HPO:curators - - - physical aggression + + Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. + HPO:curators + + + Aggression @@ -33632,17 +34788,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas OCD - OCD + Obsessive compulsive behavior - - - - - HPO:probinson - Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). - - + Obsessive-compulsive behavior @@ -33651,19 +34800,26 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Obsessive-compulsive disorder + HPO:probinson + Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). + + + + + Obsessive compulsive disorder - Obsessive compulsive behavior + OCD + - + - Obsessive compulsive disorder + Obsessive-compulsive disorder @@ -33759,25 +34915,25 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. - HPO:probinson + Progressive dementia - + + - Dementia, progressive + Dementia - Progressive dementia + A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. + HPO:probinson - - + - Dementia + Dementia, progressive @@ -33848,19 +35004,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Autistic behaviour - - Autistic behaviour - - - - - - A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). - DSM-IV:299.00 - HPO:probinson - - - Autism spectrum disorders HPO:skoehler @@ -33874,6 +35017,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Autistic behaviour + + + + + + A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). + DSM-IV:299.00 + HPO:probinson + + + Autistic behaviors HPO:skoehler @@ -33948,13 +35104,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - orcid.org/0000-0001-9114-8737 - Repetitive movements - - - - A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. HPO:probinson @@ -33967,6 +35116,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + ORCID:0000-0001-9114-8737 + Repetitive movements + + + + @@ -34003,18 +35159,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0424296 human_phenotype - - A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. - HPO:sdoelken - - - Disinhibition + + A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. + HPO:sdoelken + + + @@ -34055,19 +35211,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Impaired social interactions + Poor social interactions - Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. - HPO:probinson - - - - - Poor social interactions + Impaired social interactions @@ -34078,6 +35228,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. + HPO:probinson + + + @@ -34116,12 +35272,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Easily distracted Problem paying attention - - Short attention span - - - - Poor attention span @@ -34137,7 +35287,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Easily distracted - + @@ -34146,6 +35296,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Short attention span + + + + @@ -34181,13 +35337,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Irritable - Irritable + Irritability - Irritability + Irritable @@ -34232,26 +35388,26 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Sensory hallucination - HPO:sdoelken - Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. + Hallucinations - + + - Hallucination + Sensory hallucination + ORCID:0000-0001-6908-9849 - Hallucinations + HPO:sdoelken + Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. - - + - Sensory hallucination - orcid.org/0000-0001-6908-9849 + Hallucination @@ -34293,13 +35449,22 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0003467 UMLS:C4020884 human_phenotype + Excessive, persistent worry and fear Anxiousness - Anxiety disease + HPO:probinson + Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. + PMID:23902698 + + + + + Excessive, persistent worry and fear + ORCID:0000-0002-6548-5200 - + Anxiety @@ -34308,11 +35473,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. - PMID:23902698 + Anxiety disease - + + @@ -34404,20 +35568,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Deliberate self-harm - Self-mutilation + Self mutilation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Deliberate self-harm - Self mutilation + Self-mutilation @@ -34511,6 +35675,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0456814 human_phenotype + + Lack of motivation + + + + A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. HPO:probinson @@ -34524,12 +35694,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Lack of motivation - - - - @@ -34683,111 +35847,110 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Delayed speech - HPO:skoehler - Poor speech development + A degree of language development that is significantly below the norm for a child of a specified age. + HPO:probinson - - + - Impaired speech development + Speech and language delay - Delayed speech acquisition + Late-onset speech development - HPO:skoehler - Poor speech acquisition + Delayed speech and language development - + - A degree of language development that is significantly below the norm for a child of a specified age. - HPO:probinson + Delayed speech acquisition - + + - Delayed language development + Impaired speech development - Delayed speech and language development + Speech delay - Speech and language delay + Language delay - Poor language development + Delayed language development - Language delayed + HPO:skoehler + Poor speech acquisition - + - Impaired speech and language development + Language delayed - Late-onset speech development + Speech difficulties - + - Speech and language difficulties + Delayed speech development - Delayed speech development + Speech and language difficulties - Speech difficulties + Language development deficit - + - Language delay + Poor language development - Language development deficit + Deficiency of speech development - Speech delay + Impaired speech and language development @@ -34800,10 +35963,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Deficiency of speech development + HPO:skoehler + Poor speech development - + @@ -34844,10 +36008,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - An abnormal shift in patterns of thinking, acting, or feeling. - HPO:probinson + Personality changes - + + Personality change @@ -34856,10 +36020,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Personality changes + An abnormal shift in patterns of thinking, acting, or feeling. + HPO:probinson - - + @@ -34946,19 +36110,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Fear of open spaces - - A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. - HPO:probinson - - - Fear of open spaces - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. + HPO:probinson + + + @@ -35053,18 +36217,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025831 human_phenotype - - Abnormal peripheral nervous system morphology - - - - An abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). HPO:probinson + + Abnormal peripheral nervous system morphology + + + + @@ -35242,18 +36406,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Abnormality of the chest - - Abnormality of the chest - - - - Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). HPO:curators + + Abnormality of the chest + + + + @@ -35308,18 +36472,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Sternal anomalies - - - - An anomaly of the sternum, also known as the breastbone. HPO:probinson + + Sternal anomalies + + + + @@ -35358,18 +36522,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. - HPO:probinson - - - Funnel chest + + A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. + HPO:probinson + + + @@ -35417,7 +36581,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Pigeon chest https://en.wikipedia.org/wiki/pectus_carinatum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -35457,18 +36621,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - An abnormality of the breast. - HPO:probinson - - - Abnormality of the breast + + An abnormality of the breast. + HPO:probinson + + + @@ -35561,6 +36725,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + Rib abnormalities + + + + Abnormality of the ribs @@ -35573,12 +36743,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Rib abnormalities - - - - @@ -35619,18 +36783,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0426817 human_phenotype - - Short ribs - - - - HPO:probinson Reduced rib length. + + Short ribs + + + + @@ -35673,12 +36837,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0426790 human_phenotype - - HPO:probinson - Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. - - - Narrow shoulders @@ -35686,13 +36844,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Narrow chest + Low chest circumference - Low chest circumference + HPO:probinson + Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. + + + + + Narrow chest @@ -35741,13 +36905,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Diaphragmatic defect + Diaphragm issues - Diaphragm issues + Diaphragmatic defect @@ -35845,18 +37009,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0685891 human_phenotype - - Abnormality of the thymus - - - - Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. HPO:probinson + + Abnormality of the thymus + + + + @@ -35901,8 +37065,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5208-3432 Small thymus - orcid.org/0000-0001-5208-3432 @@ -35943,7 +37107,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the shoulder blade @@ -35987,18 +37151,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. THe resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. human_phenotype - - HPO:probinson - The presence of calculi (stones) in the kidneys. - - - Kidney stones + + HPO:probinson + The presence of calculi (stones) in the kidneys. + + + @@ -36090,6 +37254,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas High urine occult blood Blood in urine + + High urine occult blood + + + + HPO:curators The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). @@ -36097,18 +37267,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 Blood in urine + ORCID:0000-0001-5208-3432 - - High urine occult blood - - - - @@ -36125,18 +37289,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Uric acid stones - - HPO:probinson - The presence of uric acid-containing calculi (stones) in the kidneys. - - - Uric acid stones + + HPO:probinson + The presence of uric acid-containing calculi (stones) in the kidneys. + + + @@ -36154,18 +37318,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas MPGN Mesangiocapillary glomerulonephritis - - MPGN - - - - PMID:19908070 A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity + + MPGN + + + + @@ -36225,18 +37389,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Urethra issue - - An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. - HPO:probinson - - - Urethra issue + + An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. + HPO:probinson + + + @@ -36273,19 +37437,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Low sperm count - - orcid.org/0000-0001-5208-3432 - Low sperm count - - - - HPO:probinson Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. + + Low sperm count + ORCID:0000-0001-5208-3432 + + + + @@ -36330,18 +37494,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4021796 human_phenotype - - Fatty kidney - - - - Abnormal fat accumulation in the kidneys. HPO:probinson + + Fatty kidney + + + + @@ -36378,7 +37542,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Difficulty getting a full erection - Difficulty getting an erection + Erectile dysfunction @@ -36389,18 +37553,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Erectile dysfunction - - - - HPO:probinson Inability to develop or maintain an erection of the penis. + + Difficulty getting an erection + + + + @@ -36636,18 +37800,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025824 human_phenotype - - An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). - HPO:probinson - - - Abnormal internal genitalia + + An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). + HPO:probinson + + + @@ -36799,18 +37963,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1445953 human_phenotype - - Poor eye contact - - - - Difficulty in looking at another person in the eye. HPO:probinson + + Poor eye contact + + + + @@ -36925,18 +38089,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Thyroid abnormality - - - - An abnormality of the thyroid gland. HPO:probinson + + Thyroid abnormality + + + + Thyroid disease @@ -36982,19 +38146,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Underactive thyroid - - Underactive thyroid - orcid.org/0000-0001-5208-3432 - - - - Deficiency of thyroid hormone. HPO:probinson + + ORCID:0000-0001-5208-3432 + Underactive thyroid + + + + @@ -37060,8 +38224,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 - High blood pressure + Elevated blood pressure @@ -37073,7 +38236,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Elevated blood pressure + ORCID:0000-0001-5208-3432 + High blood pressure @@ -37124,32 +38288,32 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Pubertal delay - HPO:probinson - Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. + HPO:skoehler + Pubertal delay - + + - Delayed pubertal growth + Delayed pubertal development - Pubertal delay - HPO:skoehler + Delayed pubertal growth - Delayed puberty + HPO:probinson + Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. - - + - Delayed pubertal development + Delayed puberty @@ -37291,10 +38455,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Early onset of puberty - HPO:probinson - The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. + ORCID:0000-0001-5208-3432 + Early onset of puberty - + + Early puberty @@ -37303,11 +38468,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 - Early onset of puberty + HPO:probinson + The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. - - + @@ -37540,13 +38704,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Impaired glucose tolerance + Glucose intolerance - Glucose intolerance + Impaired glucose tolerance @@ -37589,12 +38753,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4021794 human_phenotype - - Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. - HPO:probinson - - - Adrenal gland disease @@ -37607,6 +38765,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. + HPO:probinson + + + @@ -37646,18 +38810,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1846223 human_phenotype - - Developmental hypoplasia of the adrenal glands. - HPO:probinson - - - Small adrenal glands + + Developmental hypoplasia of the adrenal glands. + HPO:probinson + + + @@ -37696,8 +38860,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Overactive thyroid + ORCID:0000-0001-5208-3432 http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986 - orcid.org/0000-0001-5208-3432 Overactive thyroid @@ -37759,16 +38923,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas HP:0030340 - DDD:spark - Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. + Elevated gonadotropins - + + - Elevated serum gonadotropins + DDD:spark + Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. - - + Increased circulating gonadotropin level @@ -37777,7 +38941,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Elevated gonadotropins + Elevated serum gonadotropins @@ -37871,18 +39035,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C3150267 human_phenotype - - An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. - HPO:probinson - - - HPO:skoehler Increased plasma renin activity + + An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. + HPO:probinson + + + @@ -37984,7 +39148,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Elevated blood parathyroid hormone level - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -38038,12 +39202,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0235986 human_phenotype - - Growth hormone excess - - - - Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. DDD:spark @@ -38051,6 +39209,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Growth hormone excess + + + + @@ -38523,7 +39687,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Increased aldosterone + Elevated plasma aldosterone @@ -38536,7 +39700,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Elevated plasma aldosterone + Increased aldosterone @@ -38577,24 +39741,24 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Underdeveloped parathyroid glands - orcid.org/0000-0001-5208-3432 - Small parathyroid glands + Developmental hypoplasia of the parathyroid gland. + HPO:probinson - - + - orcid.org/0000-0001-5208-3432 Underdeveloped parathyroid glands + ORCID:0000-0001-5208-3432 - Developmental hypoplasia of the parathyroid gland. - HPO:probinson + ORCID:0000-0001-5208-3432 + Small parathyroid glands - + + @@ -38711,13 +39875,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Decreased fertility in females + Reduced fertility in females - Reduced fertility in females + Decreased fertility in females @@ -38834,13 +39998,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0242343 human_phenotype - - A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). - HPO:probinson - pmid:12466332 - - - HPO:skoehler @@ -38886,6 +40043,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). + HPO:probinson + pmid:12466332 + + + @@ -38975,8 +40139,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Intermittent high blood pressure + ORCID:0000-0001-6908-9849 Intermittent high blood pressure - orcid.org/0000-0001-6908-9849 @@ -39038,18 +40202,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - HPO:probinson - Presence of only 11 pairs of ribs. - - - 11 pairs of ribs + + HPO:probinson + Presence of only 11 pairs of ribs. + + + @@ -39149,8 +40313,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5208-3432 Small shoulder blade - orcid.org/0000-0001-5208-3432 @@ -39192,6 +40356,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + Thin ribs + + + + Slender ribs @@ -39204,12 +40374,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Thin ribs - - - - @@ -39289,6 +40453,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + Broad ribs + + + + HPO:probinson Increased width of ribs @@ -39301,12 +40471,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Broad ribs - - - - @@ -39380,10 +40544,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Rib flaring + Rib cupping - + Cupped ribs @@ -39392,10 +40556,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Rib cupping + Rib flaring - + @@ -39431,18 +40595,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C3806510 human_phenotype - - A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. - HPO:probinson - - - Horizontal ribs + + A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. + HPO:probinson + + + @@ -39480,18 +40644,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Any abnormality of the clavicles (collar bones). - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal collarbone + + Any abnormality of the clavicles (collar bones). + HPO:probinson + + + @@ -39530,8 +40694,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Long collarbone - orcid.org/0000-0001-5208-3432 Long collarbone + ORCID:0000-0001-5208-3432 @@ -39594,20 +40758,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Split ribs - A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Cleft ribs - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. + HPO:probinson + + + + + ORCID:0000-0001-5208-3432 Split ribs @@ -39703,8 +40867,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 Short collarbone + ORCID:0000-0001-5208-3432 @@ -39727,16 +40891,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas An excessive upward convexity of the lateral clavicle. - orcid.org/0000-0001-5208-3432 Hook-shaped collarbone + ORCID:0000-0001-5208-3432 + An excessive upward convexity of the lateral clavicle. HPO:probinson pmid:7322653 - An excessive upward convexity of the lateral clavicle. @@ -39864,10 +41028,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Complete or partial merging of adjacent ribs. - HPO:probinson + Fused ribs - + + Rib fusion @@ -39876,10 +41040,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Fused ribs + Complete or partial merging of adjacent ribs. + HPO:probinson - - + @@ -39917,18 +41081,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1854780 human_phenotype - - HPO:curators - The presence of wide, concave anterior rib ends. - - - Flaring of rib cage + + HPO:curators + The presence of wide, concave anterior rib ends. + + + @@ -40069,30 +41233,30 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Congenital elevation of scapula - MEDDRA:10010455 + ORCID:0000-0001-5208-3432 + High schoulder blade - + + - A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). - HPO:probinson + ORCID:0000-0001-5208-3432 + High scapula + https://en.wikipedia.org/wiki/sprengel%27s_deformity - + - orcid.org/0000-0001-5208-3432 - https://en.wikipedia.org/wiki/sprengel%27s_deformity - High scapula + A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). + HPO:probinson - + - orcid.org/0000-0001-5208-3432 - High schoulder blade + Congenital elevation of scapula + MEDDRA:10010455 - - + @@ -40130,13 +41294,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1839248 human_phenotype - - Broad chest - orcid.org/0000-0001-5208-3432 - - - - A broad chest. HPO:probinson @@ -40144,6 +41301,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Broad chest + ORCID:0000-0001-5208-3432 + + + + Shield chest @@ -40208,18 +41372,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - Increased width (cross-sectional diameter) of the clavicles. - - - - - orcid.org/0000-0001-5208-3432 Broad collarbone + ORCID:0000-0001-5208-3432 + + HPO:probinson + Increased width (cross-sectional diameter) of the clavicles. + + + @@ -40257,16 +41421,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Shoulder bone exostoes - HPO:probinson - The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. + ORCID:0000-0001-5208-3432 + Shoulder bone exostoes - + - orcid.org/0000-0001-5208-3432 - Shoulder bone exostoes + HPO:probinson + The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. - + @@ -40499,28 +41663,28 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Skeletal anomalies + Skeletal abnormalities - Skeletal abnormalities + An abnormality of the skeletal system. + HPO:probinson - - + - Abnormality of the skeletal system + Skeletal anomalies - An abnormality of the skeletal system. - HPO:probinson + Abnormality of the skeletal system - + + @@ -40563,10 +41727,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormality of the backbone + Any abnormality of the vertebral column. + HPO:probinson - - + Abnormal vertebral column @@ -40575,29 +41739,29 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormality of the spine + HPO:skoehler + Abnormal spine - Abnormality of the vertebral column + Abnormality of the spine - Abnormal spine - HPO:skoehler + Abnormality of the backbone - + - Any abnormality of the vertebral column. - HPO:probinson + Abnormality of the vertebral column - + + @@ -40649,7 +41813,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Flattened vertebrae - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -40704,18 +41868,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025818 human_phenotype - - HPO:probinson - The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. - - - Abnormality of skeletal maturation + + HPO:probinson + The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. + + + @@ -40753,10 +41917,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormality of the skull bones - Abnormality of the skull + Abnormality of the skull bones + ORCID:0000-0001-5889-4463 - + An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. @@ -40765,11 +41930,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 - Abnormality of the skull bones + Abnormality of the skull - + @@ -40788,26 +41952,26 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Thinning and bulging of occipital bone over the transverse sinuses - Elevated imprint of occipital bone over the transverse sinuses - orcid.org/0000-0001-5889-4463 + Thinning and bulging of posterior skull bones over the transverse sinuses + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Elevated imprint of posterior skull bones over the transverse sinuses + Elevated imprint of occipital bone over the transverse sinuses + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Thinning and bulging of posterior skull bones over the transverse sinuses + Elevated imprint of posterior skull bones over the transverse sinuses + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Thinning and bulging of occipital bone over the transverse sinuses + ORCID:0000-0001-5889-4463 @@ -40828,14 +41992,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Thinning and bulging of occipital bone of skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thinning and bulging of occipital bone of skull - orcid.org/0000-0001-5889-4463 Thinning and bulging of posterior skull bones + ORCID:0000-0001-5889-4463 @@ -41097,8 +42261,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal shape of shaft of long bone + ORCID:0000-0001-5208-3432 Abnormal shape of shaft of long bone - http://orcid.org/0000-0001-5208-3432 @@ -41143,8 +42307,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Short shaft of long bone - orcid.org/0000-0001-5208-3432 Short shaft of long bone + ORCID:0000-0001-5208-3432 @@ -41201,19 +42365,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Abnormality of the wide portion of a long bone - - http://orcid.org/0000-0001-5208-3432 - Abnormality of the wide portion of a long bone - - - - An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormality of the wide portion of a long bone + + + + @@ -41254,8 +42418,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Small wings of the pelvic girdle - http://orcid.org/0000-0001-5208-3432 Small wings of the pelvic girdle + ORCID:0000-0001-5208-3432 @@ -41304,18 +42468,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C2749582 human_phenotype - - Dumbbell-shaped long bone - - - - An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. HPO:probinson + + Dumbbell-shaped long bone + + + + @@ -41366,10 +42530,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:skoehler - dermatopathy + An abnormality of the skin. + HPO:probinson - + Abnormality of the skin @@ -41378,10 +42542,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - An abnormality of the skin. - HPO:probinson + HPO:skoehler + dermatopathy - + HPO:skoehler @@ -41410,37 +42574,37 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Yellowing of the skin - orcid.org/0000-0001-6908-9849 - Yellow skin + Jaundice - orcid.org/0000-0001-6908-9849 Yellowing of the skin + ORCID:0000-0001-6908-9849 - HPO:curators - Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Icterus - Jaundice + Yellow skin + ORCID:0000-0001-6908-9849 + + HPO:curators + Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. + + + @@ -41559,8 +42723,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-6908-9849 Simian line + ORCID:0000-0001-6908-9849 @@ -41586,12 +42750,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Keratosis nigricans - - orcid.org/0000-0001-6908-9849 - Keratosis nigricans - - - A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. DDD:cmoss @@ -41599,6 +42757,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + ORCID:0000-0001-6908-9849 + Keratosis nigricans + + + @@ -41625,29 +42789,29 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Birthmark - Birthmark - orcid.org/0000-0001-6908-9849 + Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. + HPO:probinson - - + - Cafe-au-lait spots - HPO:skoehler + Birthmark + ORCID:0000-0001-6908-9849 - + + - Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. - HPO:probinson + ORCID:0000-0001-6908-9849 + Cafe-au-lait macule - + - Cafe-au-lait macule - orcid.org/0000-0001-6908-9849 + Cafe-au-lait spots + HPO:skoehler - + @@ -41688,18 +42852,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Dry skin - - - - Xerosis MEDDRA:10048222 + + Dry skin + + + + HPO:probinson Skin characterized by the lack of natural or normal moisture. @@ -41725,20 +42889,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Spinal dimple - - https://en.wikipedia.org/wiki/sacral_dimple - orcid.org/0000-0001-6908-9849 - Spinal dimple - - - - A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft . HPO:probinson + + Spinal dimple + ORCID:0000-0001-6908-9849 + https://en.wikipedia.org/wiki/sacral_dimple + + + + @@ -41863,18 +43027,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Thin skin - - - - HPO:probinson Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. + + Thin skin + + + + @@ -41923,18 +43087,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0013595 human_phenotype - - Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. - HPO:probinson - - - Eczema + + Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. + HPO:probinson + + + @@ -41982,6 +43146,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Inadequate sweating + + Hypohidrosis + MEDDRA:10021013 + + + Abnormally diminished capacity to sweat. HPO:probinson @@ -41989,9 +43159,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Decreased sweating + ORCID:0000-0001-6908-9849 + Inadequate sweating - @@ -42007,15 +43177,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Hypohidrosis - MEDDRA:10021013 - - - - - orcid.org/0000-0001-6908-9849 - Inadequate sweating + Decreased sweating + @@ -42144,16 +43308,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. - HPO:probinson + Dropsy + ORCID:0000-0001-6908-9849 - + - orcid.org/0000-0001-6908-9849 - Dropsy + An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. + HPO:probinson - + Fluid retention @@ -42183,40 +43347,40 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Sweating dysfunction - orcid.org/0000-0001-5208-3432 + HPO:probinson + Inability to sweat. + + + + + Lack of sweating + ORCID:0000-0001-5208-3432 http://www.medicalnewstoday.com/articles/266427.php + + Anhidrosis + MEDDRA:10002512 + + + http://www.medicalnewstoday.com/articles/266427.php - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Sudomotor dysfunction - orcid.org/0000-0001-5208-3432 - Lack of sweating + ORCID:0000-0001-5208-3432 http://www.medicalnewstoday.com/articles/266427.php + Sweating dysfunction - - HPO:probinson - Inability to sweat. - - - - - Anhidrosis - MEDDRA:10002512 - - - @@ -42257,13 +43421,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4020881 human_phenotype - - Abnormalities of sweating - HPO:skoehler - - - - An abnormality of the sweat gland. HPO:probinson @@ -42276,6 +43433,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Abnormalities of sweating + HPO:skoehler + + + + Abnormality of the sweat gland @@ -42362,49 +43526,49 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Inelastic skin - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Dermatomegaly https://en.wikipedia.org/wiki/cutis_laxa - Chalazoderma - Dermatomegaly - https://en.wikipedia.org/wiki/cutis_laxa - http://orcid.org/0000-0001-6908-9849 + Hanging skin + ORCID:0000-0001-6908-9849 - + + - https://en.wikipedia.org/wiki/cutis_laxa - Generalized elastolysis - http://orcid.org/0000-0001-6908-9849 + HPO:probinson + Wrinkled, redundant, inelastic and sagging skin. - + Inelastic skin - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - HPO:probinson - Wrinkled, redundant, inelastic and sagging skin. + https://en.wikipedia.org/wiki/cutis_laxa + Chalazoderma + ORCID:0000-0001-6908-9849 - + - Hanging skin - orcid.org/0000-0001-6908-9849 + Dermatochalasia + https://en.wikipedia.org/wiki/cutis_laxa + ORCID:0000-0001-6908-9849 - - + https://en.wikipedia.org/wiki/cutis_laxa - Dermatochalasia - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Generalized elastolysis @@ -42456,6 +43620,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Stretchable skin + + + + A condition in which the skin can be stretched beyond normal, and then returns to its initial position. HPO:sdoelken @@ -42468,12 +43638,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Stretchable skin - - - - @@ -42510,25 +43674,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Hyperhidrosis - MEDDRA:10020642 - - - - - Sweating + Excessive sweating + ORCID:0000-0001-5208-3432 - Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. - HPO:probinson + Profuse sweating - + + - Profuse sweating + Sweating, increased @@ -42540,17 +43699,22 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Sweating, increased + Sweating - Excessive sweating - http://orcid.org/0000-0001-5208-3432 + Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. + HPO:probinson - - + + + + Hyperhidrosis + MEDDRA:10020642 + + Sweating profusely @@ -42611,6 +43775,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + HPO:skoehler + Velvety skin texture + + + + Velvety skin @@ -42629,13 +43800,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - HPO:skoehler - Velvety skin texture - - - - @@ -42685,13 +43849,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Bruise easily - An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. - HPO:probinson - - - - - Bruising susceptibility + ORCID:0000-0001-6908-9849 + Bruise easily @@ -42703,14 +43862,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Easy bruisability + Bruising susceptibility - orcid.org/0000-0001-6908-9849 - Bruise easily + An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. + HPO:probinson + + + + + Easy bruisability @@ -42841,6 +44005,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4021786 human_phenotype + + Atypical scarring of skin + + + + Atypical scarring @@ -42853,12 +44023,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Atypical scarring of skin - - - - @@ -42911,18 +44075,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - HPO:probinson - A red eruption of the skin. - - - Rash + + A red eruption of the skin. + HPO:probinson + + + @@ -42947,20 +44111,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Skin itching + ORCID:0000-0001-6908-9849 + Itchy skin - HPO:probinson - Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. - - - - - orcid.org/0000-0001-6908-9849 - Itchy skin + Skin itching @@ -42971,6 +44129,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + HPO:probinson + Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. + + + @@ -43046,40 +44210,40 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Sun sensitivity + Photosensitive skin rashes - Photosensitivity + Sensitivity to sunlight - An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. - HPO:probinson + Photosensitivity - + + - Photosensitive skin + Sun sensitivity - Photosensitive skin rashes + Photosensitive skin - Sensitivity to sunlight + An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. + HPO:probinson - - + @@ -43128,24 +44292,24 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Beauty mark - A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. - HPO:probinson + Noncancerous mole + ORCID:0000-0001-5208-3432 - + + + ORCID:0000-0001-6908-9849 Beauty mark - orcid.org/0000-0001-6908-9849 - Noncancerous mole - orcid.org/0000-0001-5208-3432 + A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. + HPO:probinson - - + @@ -43195,8 +44359,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - pmid:12186179 The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. + pmid:12186179 @@ -43245,7 +44409,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Excessive hair growth - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -43274,8 +44438,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-6908-9849 Pus-filled lesion + ORCID:0000-0001-6908-9849 @@ -43335,60 +44499,60 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Pigmentary skin changes + ORCID:0000-0001-6908-9849 + Abnormal skin color - Abnormality of skin pigmentation + Abnormal pigmentation - Abnormality of pigmentation + Abnormal skin pigmentation + HPO:skoehler - Abnormal skin pigmentation - HPO:skoehler + Pigmentation anomaly - An abnormality of the pigmentation of the skin. - HPO:probinson + Pigmentary skin changes - + + - Abnormal pigmentation + Pigmentary changes - Pigmentation anomaly + Abnormality of skin pigmentation - orcid.org/0000-0001-6908-9849 - Abnormal skin color + Abnormality of pigmentation - Pigmentary changes + An abnormality of the pigmentation of the skin. + HPO:probinson - - + @@ -43425,8 +44589,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormality of fatty tissue below the skin - http://orcid.org/0000-0001-5208-3432 Abnormality of fatty tissue below the skin + ORCID:0000-0001-5208-3432 @@ -43461,18 +44625,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Liver spots + + HPO:probinson + Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. + + + @@ -43516,16 +44680,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Lymphatic obstruction - HPO:sdoelken - Localized fluid retention and tissue swelling caused by a compromised lymphatic system. + ORCID:0000-0001-6908-9849 + Lymphatic obstruction - + - Lymphatic obstruction - orcid.org/0000-0001-6908-9849 + HPO:sdoelken + Localized fluid retention and tissue swelling caused by a compromised lymphatic system. - + @@ -43585,18 +44749,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Hypotrichosis - MEDDRA:10021126 - - - Congenital lack of hair growth. HPO:probinson + + Hypotrichosis + MEDDRA:10021126 + + + @@ -43672,18 +44836,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Spider veins - HPO:probinson - Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. - - - - + ORCID:0000-0001-6908-9849 Spider veins - orcid.org/0000-0001-6908-9849 + + HPO:probinson + Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. + + + @@ -43739,18 +44903,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Patchy lightened skin - - A reduction of skin color related to a decrease in melanin production and deposition. - HPO:probinson - - - Patchy lightened skin + + A reduction of skin color related to a decrease in melanin production and deposition. + HPO:probinson + + + @@ -43891,8 +45055,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Prominent veins + ORCID:0000-0001-6908-9849 Prominent veins - orcid.org/0000-0001-6908-9849 @@ -43983,7 +45147,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Exfoliative dermititis - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Exfoliative dermititis @@ -44050,18 +45214,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - orcid.org/0000-0001-6908-9849 - Achromasia - - - An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). HPO:sdoelken + + Achromasia + ORCID:0000-0001-6908-9849 + + + @@ -44100,18 +45264,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Urticaria - MEDDRA:10046735 - - - HPO:probinson Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. + + Urticaria + MEDDRA:10046735 + + + @@ -44192,18 +45356,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Strawberry mark - A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). - HPO:probinson - - - - + ORCID:0000-0001-6908-9849 Strawberry mark - orcid.org/0000-0001-6908-9849 + + A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). + HPO:probinson + + + @@ -44222,18 +45386,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Poikiloderma - MEDDRA:10057041 - - - HPO:probinson Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. + + Poikiloderma + MEDDRA:10057041 + + + @@ -44273,10 +45437,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - Skin that splits easily with minimal injury. + Fragile skin - + + Skin fragility @@ -44285,10 +45449,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Fragile skin + HPO:probinson + Skin that splits easily with minimal injury. - - + Skin fragility @@ -44412,18 +45576,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1842774 human_phenotype - - Hyperpigmented skin patches - - - - A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. DDD:cmoss + + Hyperpigmented skin patches + + + + Hyperpigmented spots @@ -44549,11 +45713,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Blushing - orcid.org/0000-0001-6908-9849 - Rosacea + Ruddy face - + Blushed cheeks @@ -44562,26 +45725,27 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Red face + Red in the face - Ruddy face + Red face - + - Red in the face + ORCID:0000-0001-6908-9849 + Rosacea - + - orcid.org/0000-0001-6908-9849 Blushing + ORCID:0000-0001-6908-9849 @@ -44677,8 +45841,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Blotchy loss of skin color - orcid.org/0000-0001-6908-9849 Blotchy loss of skin color + ORCID:0000-0001-6908-9849 @@ -44701,17 +45865,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Intermittent yellow skin - orcid.org/0000-0001-6908-9849 - Intermittent yellowing of skin + ORCID:0000-0001-6908-9849 + Intermittent icterus - @@ -44721,9 +45884,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Intermittent icterus - orcid.org/0000-0001-6908-9849 + Intermittent yellowing of skin + ORCID:0000-0001-6908-9849 + @@ -44734,7 +45898,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Atopic dermatitis - A chronic inflammatory genetically determined disease of the skin manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. + Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. Atopic dermatitis, chronic Dermatitis, Atopic HP:0001047 @@ -44750,17 +45914,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Baby eczema - orcid.org/0000-0001-6908-9849 - Baby eczema + Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. + HPO:probinson + PMID:27904186 - - + - A chronic inflammatory genetically determined disease of the skin manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. - HPO:probinson + ORCID:0000-0001-6908-9849 + Baby eczema - + + @@ -44803,6 +45968,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Cavernous angioma + + ORCID:0000-0001-6908-9849 + Cavernous angioma + + + Haemangioma cavernous MEDDRA:10055899 @@ -44815,12 +45986,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - orcid.org/0000-0001-6908-9849 - Cavernous angioma - - - @@ -44898,11 +46063,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. - HPO:sdoelken - PMID:22483320 + Nevus simplex + ORCID:0000-0001-6908-9849 - + HPO:SKOEHLER @@ -44918,10 +46082,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-6908-9849 - Nevus simplex + A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. + HPO:sdoelken + PMID:22483320 - + @@ -44953,7 +46118,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Numerous moles - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -45012,7 +46177,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Milk spot @@ -45025,8 +46190,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-6908-9849 Millium cyst - orcid.org/0000-0001-6908-9849 @@ -45054,25 +46219,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - https://en.wikipedia.org/wiki/aplasia_cutis_congenita - orcid.org/0000-0001-5208-3432 - Congenital scars - - - - - orcid.org/0000-0001-5208-3432 - https://en.wikipedia.org/wiki/aplasia_cutis_congenita Cutis aplasia + ORCID:0000-0001-5208-3432 + https://en.wikipedia.org/wiki/aplasia_cutis_congenita - Congenital absence of skin - https://en.wikipedia.org/wiki/aplasia_cutis_congenita - orcid.org/0000-0001-5208-3432 + A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. + HPO:probinson - + Aplasia cutis congenita @@ -45081,10 +46238,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. - HPO:probinson + https://en.wikipedia.org/wiki/aplasia_cutis_congenita + Congenital scars + ORCID:0000-0001-5208-3432 - + + + + ORCID:0000-0001-5208-3432 + Congenital absence of skin + https://en.wikipedia.org/wiki/aplasia_cutis_congenita + + @@ -45101,18 +46266,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - A reduced ability to heal cutaneous wounds. - HPO:probinson - - - Poor wound healing + + A reduced ability to heal cutaneous wounds. + HPO:probinson + + + @@ -45131,19 +46296,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Surfer's eye - - orcid.org/0000-0001-6908-9849 - Surfer's eye - - - - HPO:probinson Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. + + Surfer's eye + ORCID:0000-0001-6908-9849 + + + + @@ -45176,18 +46341,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule. - - A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). - HPO:probinson - - - - - Acne - MEDDRA:10000496 - - - Acne @@ -45200,6 +46353,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). + HPO:probinson + + + + + Acne + MEDDRA:10000496 + + + @@ -45220,18 +46385,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. - HPO:probinson - A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Atypical mole + + A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. + HPO:probinson + + + @@ -45364,7 +46529,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Sporadic excessive sweating - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -45386,19 +46551,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Mottled skin coloring - - Mottled skin coloring - orcid.org/0000-0001-6908-9849 - - - - HPO:probinson Patchy and irregular skin pigmentation. + + Mottled skin coloring + ORCID:0000-0001-6908-9849 + + + + @@ -45416,8 +46581,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Fabry syndrome - orcid.org/0000-0001-6908-9849 Fabry syndrome + ORCID:0000-0001-6908-9849 @@ -45465,34 +46630,34 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:sdoelken - Laminar thickening of skin. + Skin thickening + MEDDRA:10040936 - + - Thick skin + Thickened skin - Diffusely thickened skin + Thick skin - + - Thickened skin + Diffusely thickened skin - + - Skin thickening - MEDDRA:10040936 + HPO:sdoelken + Laminar thickening of skin. - + @@ -45513,8 +46678,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Thin (atrophic) and wide scars. + Cigarette-paper scars + + + + + HPO:probinson + Thin (atrophic) and wide scars. @@ -45530,12 +46701,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Cigarette-paper scars - - - - @@ -45568,8 +46733,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. HPO:probinson + Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. @@ -45646,18 +46811,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0008350 human_phenotype - - HPO:probinson - Hard, pebble-like deposits that form within the gallbladder. - - - Gallstones + + HPO:probinson + Hard, pebble-like deposits that form within the gallbladder. + + + @@ -45675,8 +46840,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Gallbladder inflammation + ORCID:0000-0001-6908-9849 Gallbladder inflammation - orcid.org/0000-0001-6908-9849 @@ -45716,8 +46881,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormality of lens position - Dislocated lens - Dislocated lenses Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. HP:0000665 HP:0001083 @@ -45733,18 +46896,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Dislocated lenses - - - - - - Dislocated lens - - - - Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. HPO:probinson @@ -45828,20 +46979,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Pediatric glaucoma - orcid.org/0000-0001-6908-9849 - Infantile glaucoma + Pediatric glaucoma + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 - Pediatric glaucoma + ORCID:0000-0001-6908-9849 + Childhood glaucoma - orcid.org/0000-0001-6908-9849 - Childhood glaucoma + ORCID:0000-0001-6908-9849 + Infantile glaucoma @@ -45865,8 +47016,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-6908-9849 Speckled iris - orcid.org/0000-0001-6908-9849 @@ -45913,18 +47064,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Iris degeneration - HPO:probinson - Loss of iris tissue (atrophy) - - - - - orcid.org/0000-0001-5208-3432 Iris degeneration + ORCID:0000-0001-5208-3432 + + HPO:probinson + Loss of iris tissue (atrophy) + + + @@ -45970,11 +47121,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Large eyeballs - orcid.org/0000-0001-5889-4463 - Increased size of eyes + Large of palpebral fissures + ORCID:0000-0001-5889-4463 - - + Diffusely large eye (with megalocornea) without glaucoma. @@ -45983,29 +47133,30 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5889-4463 Large eyeballs - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased size of palpebral fissures - Large eyes + Increased size of eyes + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Large of palpebral fissures + Large eyes - + + @@ -46187,8 +47338,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-6908-9849 Dry eyes + ORCID:0000-0001-6908-9849 @@ -46278,7 +47429,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Heterochromia iridis - + HP:0001100 Heterochromia irides Heterochromia iridis is a difference in the color of the iris in the two eyes. @@ -46290,8 +47441,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - http://orcid.org/0000-0001-6908-9849 Different colored eyes + ORCID:0000-0001-6908-9849 @@ -46350,7 +47501,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Inflammation of iris - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -46383,7 +47534,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas HPO:probinson Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -46511,7 +47662,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. @@ -46568,54 +47719,54 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Dark circles under the eyes - orcid.org/0000-0001-5889-4463 Dark circles under the eyes + ORCID:0000-0001-5889-4463 - Dark circles around the eyes - orcid.org/0000-0001-5889-4463 + HPO:probinson + Increased pigmentation of the skin in the region surrounding the orbit of the eye. - - + - orcid.org/0000-0001-5889-4463 - Periorbital melanosis + Dark circles around the eyes + ORCID:0000-0001-5889-4463 + - HPO:probinson - Increased pigmentation of the skin in the region surrounding the orbit of the eye. + ORCID:0000-0001-5889-4463 + Darkening around the eyes - + + - Idiopathic cutaneous hyperchromia at the orbital region - orcid.org/0000-0001-5889-4463 + Periorbital melanosis + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Darkening around the eyes + Infraorbital pigmentation + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 Pigmentation around the eyes + ORCID:0000-0001-5889-4463 - Infraorbital pigmentation - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Idiopathic cutaneous hyperchromia at the orbital region @@ -46677,7 +47828,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent pigmentation in the eye @@ -46708,7 +47859,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Leber optic degeneration @@ -46754,60 +47905,60 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Fatty deposits on eyelids - orcid.org/0000-0001-5889-4463 - Xanthoma of eyelid + Xanthoma + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Xanthoma + HPO:curators + The presence of xanthomata in the skin of the eyelid. - + - Xanthelasma of eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Fatty deposits in skin around the eyes - + + Xanthelasma of periocular region - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - HPO:curators - The presence of xanthomata in the skin of the eyelid. + ORCID:0000-0001-5889-4463 + Xanthelasma of eyelid - + - orcid.org/0000-0001-5889-4463 - Xanthoma of periocular region + Xanthoma of eyelid + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Fatty deposits on eyelids - Fatty deposits in skin around the eyes - orcid.org/0000-0001-5889-4463 + Xanthelasma palpebrarum + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Xanthelasma palpebrarum + ORCID:0000-0001-5889-4463 + Xanthoma of periocular region - + @@ -46887,19 +48038,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. Sudden decrease in vision - - Sudden decrease in vision - http://orcid.org/0000-0001-6908-9849 - - - - Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. HPO:probinson + + ORCID:0000-0001-6908-9849 + Sudden decrease in vision + + + + @@ -46988,10 +48139,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas obsolete Aplasia/Hypoplasia of the choroid - 2008-04-02T03:23:00Z HP:0001122 - peter true + HP:0000610 @@ -47015,8 +48165,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - http://orcid.org/0000-0001-6908-9849 Partial loss of field of vision + ORCID:0000-0001-6908-9849 @@ -47109,13 +48259,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Trichiasis of eyelid eyelashes - HPO:curators - Inversion and rubbing of the eyelashes against the globe of the eye. - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Ingrown eyelashes @@ -47123,10 +48267,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Introversion of eyelashes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + HPO:curators + Inversion and rubbing of the eyelashes against the globe of the eye. + + + @@ -47141,7 +48291,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Large central loss of field of vision - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Large central loss of field of vision @@ -47227,7 +48377,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Partially dislocated lens - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Partially dislocated lens @@ -47263,16 +48413,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Constricted visual fields - http://orcid.org/0000-0001-6908-9849 - Limited peripheral vision + HPO:skoehler + Constricted visual fields - - Constricted visual fields - HPO:skoehler + Limited peripheral vision + ORCID:0000-0001-6908-9849 + @@ -47369,14 +48519,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Alternating cross eyes - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + ORCID:0000-0003-0986-4123 Esotropia in which either eye may be used for fixation. - UManchester:psergouniotis @@ -47417,7 +48567,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Damaged optic nerve - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -47457,19 +48607,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Benign eye tumor - - http://orcid.org/0000-0001-6908-9849 - Benign eye tumor - - - - An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). HPO:probinson + + ORCID:0000-0001-6908-9849 + Benign eye tumor + + + + @@ -47491,19 +48641,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Severely impaired vision + Marked vision impairment - Severe visual impairment + Severely impaired vision - Marked vision impairment + Severe visual impairment @@ -47574,7 +48724,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Cyst of eye socket - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -47588,6 +48738,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas obsolete Chorioretinopathy HP:0001145 true + HP:0000532 @@ -47639,18 +48790,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Biber haab dimmer dystrophy - - http://orcid.org/0000-0001-6908-9849 - Biber haab dimmer dystrophy - - - HPO:curators The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. + + ORCID:0000-0001-6908-9849 + Biber haab dimmer dystrophy + + + @@ -47660,6 +48811,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas obsolete Choroidal sclerosis HP:0001150 true + HP:0000532 @@ -47741,18 +48893,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Double vagina - HPO:curators - The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. - - - - - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Double vagina + + HPO:curators + The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. + + + @@ -47795,24 +48947,24 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - An abnormality affecting one or both hands. - HPO:probinson - - - - - Hand deformities + Abnormality of the hand - Abnormal hands HPO:skoehler + Abnormal hands + + An abnormality affecting one or both hands. + HPO:probinson + + + Hand anomalies @@ -47820,7 +48972,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormality of the hand + Hand deformities @@ -47885,6 +49037,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0039075 Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "symphalangism". human_phenotype + Fyler:4174 Webbed fingers or toes @@ -47894,8 +49047,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5208-3432 Webbed fingers or toes - orcid.org/0000-0001-5208-3432 @@ -47952,29 +49105,29 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Polydactyly of fingers - MEDDRA:10036064 - - - - - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Extra finger + A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. + HPO:probinson + + + + + ORCID:0000-0001-6908-9849 Supernumerary finger - http://orcid.org/0000-0001-6908-9849 - A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. - HPO:probinson + Polydactyly of fingers + MEDDRA:10036064 - + @@ -48035,32 +49188,32 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:sdoelken - Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). - - - - - orcid.org/0000-0001-5208-3432 - Extra little finger + ORCID:0000-0001-5208-3432 + Extra pinky finger - orcid.org/0000-0001-5208-3432 Extra pinkie finger + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Extra pinky finger + ORCID:0000-0001-5208-3432 + Extra little finger + + HPO:sdoelken + Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). + + + @@ -48104,8 +49257,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 Abnormality of the long bone of hand + ORCID:0000-0001-5208-3432 @@ -48151,13 +49304,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Spider slender fingers + Long slender fingers - Long slender fingers + Spider slender fingers @@ -48215,18 +49368,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C2674737 human_phenotype - - Abnormality of finger - - - - An anomaly of a finger. HPO:probinson + + Abnormality of finger + + + + Abnormalities of the fingers @@ -48274,17 +49427,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Wide palm + Broad palm - For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. - HPO:probinson - pmid:19125433 + Broad hands + HPO:skoehler - + + Broad hand @@ -48293,14 +49446,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Broad palm + For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. + HPO:probinson + pmid:19125433 - - + - Broad hands - HPO:skoehler + Wide palm @@ -48331,43 +49484,43 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Claw hand + Claw-hand deformities - A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. - HPO:sdoelken + Claw hand - + + - Claw-hand deformities + Split hand - Split-hand + A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. + HPO:sdoelken - - + - Claw hand deformities + Claw hands - Split hand + Split-hand - Claw hands + Claw hand deformities @@ -48411,7 +49564,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Abnormality of the thumb + Thumb deformity @@ -48423,13 +49576,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Thumb deformity + Abnormality of the thumbs - Abnormality of the thumbs + Abnormality of the thumb @@ -48543,15 +49696,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Extra thumb - Extra thumb - http://orcid.org/0000-0001-6908-9849 - - - - - + ORCID:0000-0001-6908-9849 Supernumerary thumb - http://orcid.org/0000-0001-6908-9849 @@ -48561,6 +49707,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Extra thumb + ORCID:0000-0001-6908-9849 + + + + @@ -48656,8 +49809,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - http://orcid.org/0000-0001-6908-9849 Inward turned thumb + ORCID:0000-0001-6908-9849 @@ -48711,6 +49864,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + Tapered fingertips + + + + The gradual reduction in girth of the digit from proximal to distal. pmid:19125433 @@ -48718,29 +49877,23 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Tapered finger + HPO:skoehler + Tapered fingers - - + - Tapering fingers + Tapered finger - Tapered fingertips + Tapering fingers - - HPO:skoehler - Tapered fingers - - - @@ -48760,22 +49913,22 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Finger joint hyperextensibility - Hyperextensible finger + Hyperextensible digits - Finger joint hyperextensibility + Hyperextensible fingers - + - Hyperextensible fingers + Finger joint hyperextensibility - + HPO:curators @@ -48784,7 +49937,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Hyperextensible digits + Hyperextensible finger @@ -48806,6 +49959,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + Hand clenching + + + + Clenched hands @@ -48819,12 +49978,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Hand clenching - - - - @@ -48864,19 +50017,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal wrist bones - - An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). - HPO:probinson - - - Abnormal wrist bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). + HPO:probinson + + + @@ -48916,18 +50069,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025798 human_phenotype - - Abnormalities of placenta or umbilical cord - - - - An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). HPO:curators + + Abnormalities of placenta or umbilical cord + + + + @@ -49135,18 +50288,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Fused outermost bones of hand - HPO:sdoelken - The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. - - - - - orcid.org/0000-0001-5208-3432 Fused outermost bones of hand + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. + + + @@ -49226,18 +50379,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Prominent finger pads - - - - A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. HPO:probinson + + Prominent finger pads + + + + Prominent fingertip pads @@ -49313,19 +50466,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Delayed maturation of wrist bone - - http://orcid.org/0000-0001-5208-3432 - Delayed maturation of wrist bone - - - - HPO:probinson Ossification of carpal bones occurs later than age-adjusted norms. + + ORCID:0000-0001-5208-3432 + Delayed maturation of wrist bone + + + + @@ -49365,6 +50518,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0149651 human_phenotype + + Clubbing of fingers and toes + + + + Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. HPO:sdoelken @@ -49372,12 +50531,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Clubbing of fingers and toes - - - - @@ -49472,18 +50625,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Spoon shaped thumbs - HPO:curators - Spoon-shaped, broad thumbs. - - - - + ORCID:0000-0001-5208-3432 Spoon shaped thumbs - orcid.org/0000-0001-5208-3432 + + HPO:curators + Spoon-shaped, broad thumbs. + + + @@ -49643,8 +50796,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - http://orcid.org/0000-0001-5208-3432 Wide long bones of hand + ORCID:0000-0001-5208-3432 @@ -49690,12 +50843,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Abnormal fingernails - - An abnormality of the fingernails. - HPO:probinson - - - HPO:skoehler Abnormal fingernails @@ -49703,6 +50850,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + An abnormality of the fingernails. + HPO:probinson + + + Abnormality of the fingernails @@ -49804,18 +50957,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Webbed 2nd-3rd fingers - HPO:sdoelken - Syndactyly with fusion of fingers two and three. - - - - + ORCID:0000-0001-5208-3432 Webbed 2nd-3rd fingers - orcid.org/0000-0001-5208-3432 + + HPO:sdoelken + Syndactyly with fusion of fingers two and three. + + + @@ -49835,6 +50988,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + Hitchhiker thumb + + + + HPO:probinson With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. @@ -49842,12 +51001,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Hitchhiker thumb - - - - @@ -49887,7 +51040,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Narrow fingers + Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. + pmid:19125433 + + + + + Slender finger @@ -49899,7 +51058,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Slender finger + Narrow fingers @@ -49911,12 +51070,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. - pmid:19125433 - - - @@ -50042,8 +51195,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. + HPO:probinson Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. - HPO:probinson @@ -50119,34 +51272,34 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Intellectual disability + Mental-retardation - Mental retardation + HPO:probinson + Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. - - + - Poor school performance + Intellectual disability - + - Mental-retardation + Mental retardation - Mental deficiency + Poor school performance - + Mental retardation, nonspecific @@ -50155,10 +51308,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. + Mental deficiency - + + Low intelligence @@ -50216,6 +51369,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Seizures + + + + Seizure @@ -50228,12 +51387,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Seizures - - - - @@ -50319,7 +51472,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:398152000 UMLS:C0026827 human_phenotype + Low or weak muscle tone + + ORCID:0000-0002-6548-5200 + Low or weak muscle tone + + + + HPO:curators Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. @@ -50342,18 +51503,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0023380 human_phenotype - - A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. - HPO:probinson - - - Lethargy + + A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. + HPO:probinson + + + @@ -50402,16 +51563,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Intellectual disability, mild + Mild mental retardation - HPO:probinson - Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. + Intellectual disability, mild - + + Mental retardation, borderline-mild @@ -50426,10 +51587,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Mild mental retardation + HPO:probinson + Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. - - + @@ -50536,18 +51697,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Difficulty articulating speech - - Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. - HPO:curators - - - Difficulty articulating speech + + Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. + HPO:curators + + + @@ -50772,7 +51933,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Intellectual deterioration + Cognitive decline, progressive @@ -50784,19 +51945,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Mental deterioration + Intellectual deterioration - Cognitive decline + Mental deterioration - Cognitive decline, progressive + Cognitive decline @@ -50885,19 +52046,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Peripheral nerve disease - - orcid.org/0000-0001-5208-3432 - Peripheral nerve disease - - - - A generalized disorder of peripheral nerves. HPO:curators + + ORCID:0000-0001-5208-3432 + Peripheral nerve disease + + + + @@ -50950,7 +52111,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Degeneration of cerebellum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -51040,6 +52201,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:5102002 UMLS:C0175754 human_phenotype + Fyler:4321 Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. @@ -51140,18 +52302,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas peter Fainting spell - - Fainting spell - - - - HPO:probinson Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. + + Fainting spell + + + + @@ -51340,6 +52502,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Abnormal walk + + HPO:probinson + The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. + + + Abnormal gait @@ -51353,18 +52521,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5208-3432 Abnormal walk - http://orcid.org/0000-0001-5208-3432 - - HPO:probinson - The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. - - - @@ -51391,6 +52553,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + HPO:curators + Lack of clarity and coherence of thought, perception, understanding, or action. + + + Confusion @@ -51409,12 +52577,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - HPO:curators - Lack of clarity and coherence of thought, perception, understanding, or action. - - - @@ -51463,12 +52625,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Hypotonia - HPO:skoehler - - - Decreased muscle tone @@ -51481,6 +52637,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + HPO:skoehler + Hypotonia + + + @@ -51558,6 +52720,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0038454 human_phenotype + + Stroke + + + + Cerebrovascular accidents HPO:skoehler @@ -51570,12 +52738,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Stroke - - - - @@ -51752,39 +52914,39 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Lingual fasciculations - Twitching of the tongue - orcid.org/0000-0001-5889-4463 + Tongue twitching - Fasciculations or fibrillation affecting the tongue muscle. - HPO:probinson - - - - + ORCID:0000-0001-5889-4463 Lingual fibrillations - orcid.org/0000-0001-5889-4463 - Tongue twitching + Twitching of the tongue + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Lingual fasciculations + ORCID:0000-0001-5889-4463 + Lingual twitching - Lingual twitching - orcid.org/0000-0001-5889-4463 + Fasciculations or fibrillation affecting the tongue muscle. + HPO:probinson + + + + + Lingual fasciculations + ORCID:0000-0001-5889-4463 @@ -51924,10 +53086,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - An abnormality of the cerebellum. - HPO:probinson + Cerebellar anomaly - + + Cerebellar abnormalities @@ -51942,13 +53104,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormality of the cerebellum + An abnormality of the cerebellum. + HPO:probinson - - + - Cerebellar anomaly + Abnormality of the cerebellum @@ -51973,18 +53135,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Low muscle tone, in neonatal onset - HPO:curators - Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. - - - - - orcid.org/0000-0001-5208-3432 Low muscle tone, in neonatal onset + ORCID:0000-0001-5208-3432 + + HPO:curators + Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. + + + @@ -52073,15 +53235,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Underdeveloped cerebellum - Small cerebellum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Underdeveloped cerebellum - orcid.org/0000-0001-5208-3432 - Underdeveloped cerebellum + ORCID:0000-0001-5208-3432 + Small cerebellum @@ -52173,6 +53335,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0151786 human_phenotype + + HPO:probinson + Reduced strength of muscles. + pmid:15832536 + + + Muscular weakness @@ -52185,13 +53354,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - HPO:probinson - Reduced strength of muscles. - pmid:15832536 - - - @@ -52210,8 +53372,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Coma caused by low blood sugar + ORCID:0000-0001-5208-3432 Coma caused by low blood sugar - orcid.org/0000-0001-5208-3432 @@ -52424,18 +53586,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - HPO:probinson - Mirror hand movements. - - - Mirror movements + + HPO:probinson + Mirror hand movements. + + + Hand mirror movements @@ -52465,12 +53627,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxtion (negative myoclonus). Involuntary jerking movements - - Jerking - - - - HPO:probinson PMID:20589866 @@ -52478,6 +53634,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Jerking + + + + @@ -52742,18 +53904,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Hemorrhagic stroke - - Hemorrhagic stroke - http://orcid.org/0000-0001-6908-9849 - - - HPO:gcarletti Hemorrhage into the parenchyma of the brain. + + Hemorrhagic stroke + ORCID:0000-0001-6908-9849 + + + @@ -52813,14 +53975,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Complete lack of development of speech and language abilities. - HPO:probinson - - - - - orcid.org/0000-0001-9114-8737 - Nonverbal + No speech or language development @@ -52832,13 +53987,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Lack of speech + ORCID:0000-0001-9114-8737 + Nonverbal - No speech or language development + Complete lack of development of speech and language abilities. + HPO:probinson + + + + + Lack of speech @@ -52897,18 +54059,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0151889 human_phenotype - - HPO:probinson - Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. - - - Increased reflexes + + HPO:probinson + Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. + + + @@ -52960,18 +54122,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0234518 human_phenotype - - Abnormal coordination of muscles involved in speech. - DDD:fmunitoni - - - Slurred speech + + Abnormal coordination of muscles involved in speech. + DDD:fmunitoni + + + @@ -52986,9 +54148,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. - HPO:probinson pmid:1464676 Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. + HPO:probinson @@ -53054,98 +54216,98 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 - Flat head syndrome + ORCID:0000-0001-5889-4463 + Flattening of skull - Rhomboid shaped head - orcid.org/0000-0001-5889-4463 + Flat head + HPO:skoehler - - Flattening of cranial vault - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Asymmetry of the posterior skull - + + Asymmetry of the posterior head - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Rhomboid shaped skull + Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. + pmid:19125436 - - + - orcid.org/0000-0001-5889-4463 - Flattening of head + ORCID:0000-0001-5889-4463 + Flattening of cranial vault - - + - Flattening of skull - orcid.org/0000-0001-5889-4463 + Flat head syndrome + ORCID:0000-0001-5889-4463 - Flat head - HPO:skoehler + Rhomboid shaped head + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Flattening of cranium - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Asymmetry of the posterior cranium - Rhomboid shaped cranium - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Flattening of head - + + + ORCID:0000-0001-5889-4463 Positional plagiocephaly - orcid.org/0000-0001-5889-4463 - Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. - pmid:19125436 + Rhomboid shaped cranium + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Asymmetry of the posterior skull + Rhomboid shaped skull + ORCID:0000-0001-5889-4463 - + + + + ORCID:0000-0001-5889-4463 + Flattening of cranium + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deformational plagiocephaly @@ -53167,6 +54329,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. UMLS:C0079541 human_phenotype + Fyler:4338 HPO:probinson @@ -53236,30 +54399,30 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Calvarial defect - orcid.org/0000-0001-5889-4463 - Cranial defect + Skull defect - Skull defect + A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 + Cranial defect Calvarial defect - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - - A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. - HPO:probinson - - - @@ -53308,6 +54471,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0010278 UMLS:C0235942 human_phenotype + Fyler:4336 Premature suture closure Cranial suture synostosis Deformity of the skull @@ -53320,22 +54484,22 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0002-9353-5498 + ORCID:0000-0001-5889-4463 + Cranial suture synostosis + + + + Deformity of the skull https://en.wikipedia.org/wiki/Craniosynostosis + ORCID:0000-0002-9353-5498 - Cranial suture synostosis - orcid.org/0000-0001-5889-4463 - - - - + ORCID:0000-0001-5208-3432 Premature suture closure - orcid.org/0000-0001-5208-3432 @@ -53380,20 +54544,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal shape of joints - An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. - HPO:probinson + Abnormal shape of joints + ORCID:0000-0001-5208-3432 - + + - Joint disease + An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. + HPO:probinson - - + - orcid.org/0000-0001-5208-3432 - Abnormal shape of joints + Abnormality of the joints @@ -53405,10 +54569,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormality of the joints + Joint disease - + @@ -53455,9 +54619,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:3723001 UMLS:C0003864 human_phenotype + Joint inflammation - Arthritis + Joint inflammation + ORCID:0000-0002-6548-5200 @@ -53468,6 +54634,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Arthritis + + + + @@ -53606,17 +54778,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Joint dislocations - HPO:skoehler - Joint dislocations + Joint dislocation - Displacement or malalignment of joints. - HPO:curators + Joint dislocations + HPO:skoehler - + + Recurrent joint dislocations @@ -53625,10 +54797,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Joint dislocation + Displacement or malalignment of joints. + HPO:curators - - + @@ -53652,7 +54824,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Dislocated hip since birth - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -53697,13 +54869,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - A reduction in the freedom of movement of one or more joints. - HPO:probinson - - - - - Decreased joint mobility + Limited joint mobility @@ -53715,19 +54881,25 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Limited joint mobility + Decreased joint mobility - Limitation of joint mobility + Decreased mobility of joints - Decreased mobility of joints + A reduction in the freedom of movement of one or more joints. + HPO:probinson + + + + + Limitation of joint mobility @@ -53755,11 +54927,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Limitation of elbow extension + Limited extension at elbows + + HPO:probinson + Limited ability to straighten the arm at the elbow joint. + + + Limited forearm extension @@ -53773,25 +54951,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Limited extension at elbows + Limitation of elbow extension - HPO:probinson - Limited ability to straighten the arm at the elbow joint. - - - - - Elbow limited extension + Limited elbow extension - Limited elbow extension + Elbow limited extension @@ -53867,25 +55039,25 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Double-Jointed - HPO:probinson - The ability of a joint to move beyond its normal range of motion. + Increased mobility of joints - + + - Flexible joints + HPO:probinson + The ability of a joint to move beyond its normal range of motion. - - + - Increased mobility of joints + Double-Jointed - Double-Jointed + Flexible joints @@ -54070,13 +55242,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Stiff joint + Stiff joints - Stiff joints + Joint stiffness @@ -54088,7 +55260,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Joint stiffness + Stiff joint @@ -54126,12 +55298,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - HPO:probinson - Lack of stability of a joint. - - - Loose-jointedness @@ -54139,14 +55305,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Joint instability - Sanford:krageth + Lax joints - Lax joints + HPO:probinson + Lack of stability of a joint. + + + + + Joint instability + Sanford:krageth @@ -54198,28 +55370,28 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormal liver + An abnormality of the liver. + HPO:probinson - - + - Abnormality of the liver + Liver disease - + - An abnormality of the liver. - HPO:probinson + Abnormal liver - + + - Liver disease + Abnormality of the liver - + @@ -54228,7 +55400,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Cirrhosis - + A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. HP:0001394 @@ -54288,7 +55460,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - + HP:0001395 MSH:D008103 SNOMEDCT_US:62484002 @@ -54518,7 +55690,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Death of liver cells - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -54763,11 +55935,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - HPO:skoehler - Liver dysfunction, mild + Decreased liver function - + HPO:probinson @@ -54776,16 +55947,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Decreased liver function + Liver dysfunction - Liver dysfunction + HPO:skoehler + Liver dysfunction, mild - + @@ -54866,18 +56038,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas X-linked form human_phenotype - - A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. - HPO:curators - - - HPO:skoehler X-linked form + + A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. + HPO:curators + + + @@ -54941,7 +56113,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal hand muscles - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal hand muscles @@ -54961,18 +56133,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas X-linked dominant human_phenotype - - A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. - HPO:curators - - - HPO:skoehler X-linked dominant + + A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. + HPO:curators + + + @@ -55108,8 +56280,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal calf muscles - orcid.org/0000-0001-5208-3432 Abnormal calf muscles + ORCID:0000-0001-5208-3432 @@ -55148,9 +56320,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - + 2008-02-20T10:51:00Z HP:0001433 SNOMEDCT_US:36760000 @@ -55161,8 +56333,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Enlarged liver and spleen + ORCID:0000-0001-5208-3432 Enlarged liver and spleen - orcid.org/0000-0001-5208-3432 @@ -55253,7 +56425,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal foot muscles - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -55335,18 +56507,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Abnormality of the abdomen - - A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. - HPO:probinson - - - Abdomen abnormality + + A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. + HPO:probinson + + + Abnormality of abdomen morphology @@ -55399,7 +56571,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Synostosis involving metatarsal bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fusion of the long bones of the feet @@ -55441,8 +56613,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal thigh muscles - orcid.org/0000-0001-5208-3432 Abnormal thigh muscles + ORCID:0000-0001-5208-3432 @@ -55503,7 +56675,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormality of glutes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of glutes @@ -55593,8 +56765,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal upper limb muscles + ORCID:0000-0001-5208-3432 Abnormal upper limb muscles - orcid.org/0000-0001-5208-3432 @@ -55637,7 +56809,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Duplication of long bones of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -55783,8 +56955,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Webbed 1st-3rd toes + ORCID:0000-0001-5208-3432 Webbed 1st-3rd toes - orcid.org/0000-0001-5208-3432 @@ -55833,25 +57005,25 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Absent/small skeletal muscles - Absence or underdevelopment of the musculature. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Absent/underdeveloped skeletal muscles - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small skeletal muscles - orcid.org/0000-0001-5208-3432 + + Absence or underdevelopment of the musculature. + HPO:curators + + + @@ -55891,15 +57063,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Absent/underdeveloped shoulder muscles - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped shoulder muscles - - - - - - orcid.org/0000-0001-5208-3432 Absent/small shoulder muscles + ORCID:0000-0001-5208-3432 @@ -55910,6 +57075,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Absent/underdeveloped shoulder muscles + ORCID:0000-0001-5208-3432 + + + + @@ -55947,16 +57119,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Wasting of shoulder muscles - Shoulder muscle degeneration - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Wasting of shoulder muscles + - Wasting of shoulder muscles - orcid.org/0000-0001-5208-3432 + Shoulder muscle degeneration + ORCID:0000-0001-5208-3432 - @@ -56006,9 +57178,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025770 human_phenotype peter - Absent/small upper limb muscles Absent/underdeveloped upper limb muscles + Absent/small upper limb muscles + + ORCID:0000-0001-5208-3432 + Absent/underdeveloped upper limb muscles + + + + Absence or underdevelopment of the musculature of the upper limbs. HPO:curators @@ -56017,14 +57196,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Absent/small upper limb muscles - http://orcid.org/0000-0001-5208-3432 - - - - - - Absent/underdeveloped upper limb muscles - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -56067,13 +57239,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Absent/small upper arm muscles Absent/underdeveloped upper arm muscles - - http://orcid.org/0000-0001-5208-3432 - Absent/small upper arm muscles - - - - Absence or underdevelopment of the muscles of the upper arm. HPO:curators @@ -56081,12 +57246,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped upper arm muscles + + ORCID:0000-0001-5208-3432 + Absent/small upper arm muscles + + + + @@ -56146,7 +57318,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - + @@ -56166,7 +57338,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - + @@ -56191,14 +57363,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Absent/small pelvis muscles - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent/underdeveloped pelvis muscles + ORCID:0000-0001-5208-3432 @@ -56368,41 +57540,41 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Late closure of soft spot on the skull Delayed closure of the bregma sutures - - Late closure of the bregma sutures - orcid.org/0000-0001-5889-4463 - - - Delayed closure of the soft spot on the skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Late closure of anterior fontanelle + A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. + HPO:probinson - + - orcid.org/0000-0001-5889-4463 Late closure of soft spot on the skull + ORCID:0000-0001-5889-4463 - A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. - HPO:probinson + ORCID:0000-0001-5889-4463 + Late closure of anterior fontanelle - + + ORCID:0000-0001-5889-4463 Delayed closure of the bregma sutures - orcid.org/0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 + Late closure of the bregma sutures @@ -56468,11 +57640,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0746926 human_phenotype Nodule below the skin + Firm lump under the skin Nodule below the skin - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -56483,6 +57656,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Firm lump under the skin + ORCID:0000-0002-6548-5200 + + + + @@ -56530,7 +57710,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Drooping of both upper eyelids - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Drooping of both upper eyelids @@ -56554,8 +57734,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Separation of the vitreous humor from the retina. - HPO:probinson - PMID:24376338 + HPO:probinson + PMID:24376338 Separation of the vitreous humor from the retina. @@ -56616,18 +57796,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - CFEOM - HPO:skoehler + http://www.omim.org/entry/135700 + ORCID:0000-0001-5889-4463 + Congenital ophthalmoplegia + ORCID:0000-0001-5208-3432 - - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Congenital ophthalmoplegia - http://www.omim.org/entry/135700 + CFEOM + HPO:skoehler + @@ -56763,29 +57943,29 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Small carpals + HPO:probinson + Underdevelopment of one or more carpal bones. - - + - Small carpal bones + ORCID:0000-0001-5208-3432 + Small wrist bones - + - Small wrist bones - http://orcid.org/0000-0001-5208-3432 + Small carpal bones - + - HPO:probinson - Underdevelopment of one or more carpal bones. + Small carpals - + + @@ -56827,19 +58007,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Broad fingers + Broad finger - Wide fingers + Broad fingers - Broad finger + Wide fingers @@ -56864,8 +58044,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas 6 long bones of hand - orcid.org/0000-0001-5208-3432 6 long bones of hand + ORCID:0000-0001-5208-3432 @@ -56941,7 +58121,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal growth - Growth abnormality + Abnormal growth @@ -56953,7 +58133,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormal growth + Growth abnormality @@ -57005,36 +58185,36 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Undergrowth - Faltering weight - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Weight faltering - Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. - HPO:probinson + Poor weight gain - + + - Weight faltering - orcid.org/0000-0001-5208-3432 + Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. + HPO:probinson - - + - Poor weight gain + Undergrowth - + - Undergrowth + ORCID:0000-0001-5208-3432 + Faltering weight - + @@ -57096,59 +58276,59 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Retarded growth + Growth delay - Growth delay + A deficiency or slowing down of growth pre- and postnatally. + HPO:probinson - - + - Growth deficiency + Growth failure - Growth failure + Poor growth - HPO:skoehler - Very poor growth + Retarded growth - + - Growth retardation + Delayed growth - Poor growth + Growth deficiency - Delayed growth + HPO:skoehler + Very poor growth - + - A deficiency or slowing down of growth pre- and postnatally. - HPO:probinson + Growth retardation - + + @@ -57206,12 +58386,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1386048 human_phenotype - - An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. - HPO:probinson - - - Prenatal growth retardation @@ -57219,16 +58393,22 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Prenatal growth deficiency + IUGR + HPO:skoehler - + - IUGR - HPO:skoehler + An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. + HPO:probinson - + + + + Prenatal growth deficiency + + @@ -57270,8 +58450,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:414916001 UMLS:C0028754 human_phenotype + Having too much body fat Accumulation of substantial excess body fat. + + Having too much body fat + ORCID:0000-0002-6548-5200 + + + + Obesity @@ -57302,12 +58490,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0235991 human_phenotype - - Low birth weight - - - - DDD:hfirth Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. @@ -57326,6 +58508,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Low birth weight + + + + @@ -57376,10 +58564,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - HPO:skoehler - Macrosomia, neonatal + HPO:probinson + The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. + eMedicine:262679 - + Birthweight > 90th percentile @@ -57388,11 +58577,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. - eMedicine:262679 + HPO:skoehler + Macrosomia, neonatal - + Birth weight > 90th percentile @@ -57430,13 +58618,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Infantile death + Death in infancy - Lethal in infancy + Infantile death @@ -57448,7 +58636,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Death in infancy + Lethal in infancy @@ -57471,14 +58659,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Severe weight faltering + ORCID:0000-0001-5208-3432 Severe weight faltering - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Severe faltering weight @@ -57557,18 +58745,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C3550204 human_phenotype - - A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. - DDD:hfirth - - - Mild growth deficiency + + A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. + DDD:hfirth + + + @@ -57587,15 +58775,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Faltering weight in infancy - Weight faltering in infancy - orcid.org/0000-0001-5208-3432 + Faltering weight in infancy + ORCID:0000-0001-5208-3432 - Faltering weight in infancy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Weight faltering in infancy @@ -57617,7 +58805,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Slender, long-limbed habitus. UMLS:C1850573 human_phenotype + Thin build + + Slender build + + + + Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. HPO:probinson @@ -57625,7 +58820,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Slender build + ORCID:0000-0002-6548-5200 + Thin build @@ -57669,6 +58865,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0019322 Umbilical hernias human_phenotype + Fyler:4445 @@ -57753,6 +58950,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:18735004 UMLS:C0795690 human_phenotype + Fyler:4404 @@ -57933,13 +59131,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Prominent belly button Prominent navel - - orcid.org/0000-0001-5208-3432 - Prominent navel - - - - Abnormally prominent umbilicus (belly button). HPO:curators @@ -57947,8 +59138,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5208-3432 Prominent belly button - orcid.org/0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Prominent navel @@ -58029,18 +59227,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025763 human_phenotype - - A morphological anomaly of the rib cage. - HPO:probinson - - - Abnormality of the rib cage + + A morphological anomaly of the rib cage. + HPO:probinson + + + @@ -58083,6 +59281,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype General overgrowth + + General overgrowth + + + + Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. HPO:probinson @@ -58090,23 +59294,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Generalized overgrowth + Fetal overgrowth HPO:skoehler - Fetal overgrowth + Generalized overgrowth HPO:skoehler - - General overgrowth - - - - @@ -58179,15 +59377,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal navel - orcid.org/0000-0001-5208-3432 - Abnormal belly button - - - - - + ORCID:0000-0001-5208-3432 Abnormal navel - orcid.org/0000-0001-5208-3432 @@ -58198,6 +59389,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + ORCID:0000-0001-5208-3432 + Abnormal belly button + + + + @@ -58239,10 +59437,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Barrel chest + HPO:probinson + A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. - - + Barrel-shaped chest @@ -58251,10 +59449,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. + Barrel chest - + + @@ -58291,18 +59489,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Asymmetric chest - - - - HPO:probinson Lack of symmetry between the left and right halves of the thorax. + + Asymmetric chest + + + + @@ -58540,53 +59738,53 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Gap between upper front teeth - HPO:ibailleulforestier - Increased distance between the maxillary central permanent incisor tooth. + ORCID:0000-0001-5889-4463 + Diastema between upper front teeth - + - Widely spaced upper incisors + Wide gap between upper central incisors - orcid.org/0000-0001-5889-4463 - Diastema between upper incisors + HPO:ibailleulforestier + Increased distance between the maxillary central permanent incisor tooth. - + - orcid.org/0000-0001-5889-4463 - Diastema between upper front teeth + Gap between upper front teeth + ORCID:0000-0001-5889-4463 - + + - Diastema between maxillary central incisors - orcid.org/0000-0001-5889-4463 + Widely spaced upper incisors - + + - Central incisor gap + Diastema between upper incisors + ORCID:0000-0001-5889-4463 - - + - Wide gap between upper central incisors + Central incisor gap - + - Gap between upper front teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Diastema between maxillary central incisors - - + @@ -58613,28 +59811,28 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:ibailleulforestier - The presence of multiple impacted teeth. + Multiple impacted teeth - + + - orcid.org/0000-0001-5889-4463 - Multiple retained teeth + ORCID:0000-0001-5889-4463 + Multiple buried teeth + - Multiple impacted teeth + HPO:ibailleulforestier + The presence of multiple impacted teeth. - - + - orcid.org/0000-0001-5889-4463 - Multiple buried teeth + Multiple retained teeth + ORCID:0000-0001-5889-4463 - @@ -58684,41 +59882,28 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5889-4463 - Increased width of tooth - - - - - - orcid.org/0000-0001-5889-4463 - Increased size of tooth + Hypertrophy of tooth + ORCID:0000-0001-5889-4463 - + ORCID:0000-0001-5889-4463 Tooth mass excess - orcid.org/0000-0001-5889-4463 - Large tooth + ORCID:0000-0001-5889-4463 + Increased width of tooth - - - - Hypertrophy of tooth - orcid.org/0000-0001-5889-4463 - - + Hyperplasia of tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -58729,6 +59914,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Large tooth + + + + + + ORCID:0000-0001-5889-4463 + Increased size of tooth + + + + @@ -58842,29 +60040,29 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - HPO:skoehler - Skin infections, recurrent + Skin infections - Skin infections + HPO:curators + Infections of the skin that happen multiple times. - - + - Recurrent skin infections + HPO:skoehler + Skin infections, recurrent - HPO:curators - Infections of the skin that happen multiple times. + Recurrent skin infections - + + @@ -58891,10 +60089,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - Loose and sagging skin often associated with loss of skin elasticity. + Sagging, redundant skin - + + Redundant skin folds @@ -58903,10 +60101,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Sagging, redundant skin + HPO:probinson + Loose and sagging skin often associated with loss of skin elasticity. - - + @@ -59008,6 +60206,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Failure of development of a tooth Absence of a tooth + + ORCID:0000-0001-5889-4463 + Absence of a tooth + + + + Agenesis specifically affecting one of the classes incisor, premolar, or molar. HPO:ibailleulforestier @@ -59015,31 +60220,24 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Absence of a tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Agenesis of a tooth - - + + ORCID:0000-0001-5889-4463 Failure of development of a tooth - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Missing a tooth - - Agenesis of a tooth - orcid.org/0000-0001-5889-4463 - - - @@ -59084,50 +60282,50 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Small maxillary lateral incisor + ORCID:0000-0001-5889-4463 Decreased width of upper lateral incisor - orcid.org/0000-0001-5889-4463 - Decreased size of the maxillary permanent incisor. - HPO:ibailleulforestier + Hypotrophic maxillary lateral incisor + ORCID:0000-0001-5889-4463 - + - Hypotrophic upper lateral incisor - orcid.org/0000-0001-5889-4463 + Small upper lateral incisor + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hypotrophic maxillary lateral incisor + Small maxillary lateral incisor + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased size of upper lateral incisor + Decreased size of the maxillary permanent incisor. + HPO:ibailleulforestier - + - orcid.org/0000-0001-5889-4463 - Decreased size of maxillary lateral incisor + ORCID:0000-0001-5889-4463 + Decreased size of upper lateral incisor - orcid.org/0000-0001-5889-4463 - Small upper lateral incisor + ORCID:0000-0001-5889-4463 + Hypotrophic upper lateral incisor - Small maxillary lateral incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased size of maxillary lateral incisor @@ -59169,12 +60367,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormality of the hair shaft - - Abnormality of the hair - - - - An abnormality of the hair. HPO:probinson @@ -59182,11 +60374,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormality of the hair shaft - orcid.org/0000-0001-5889-4463 + Abnormality of the hair - + Hair abnormality @@ -59194,6 +60385,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Abnormality of the hair shaft + ORCID:0000-0001-5889-4463 + + + + @@ -59215,12 +60413,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - HPO:probinson - Loss of hair from the head or body. - - - Alopecia MEDDRA:10001760 @@ -59233,6 +60425,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + HPO:probinson + Loss of hair from the head or body. + + + @@ -59273,6 +60471,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0853087 human_phenotype + + Nail disease + + + + Abnormality of the nail. HPO:probinson @@ -59285,12 +60489,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Nail disease - - - - @@ -59453,7 +60651,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - + Decreased strength of the vocal folds. HP:0001603 HP:0001604 @@ -59472,18 +60670,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Weakness of the vocal cords human_phenotype - - Decreased strength of the vocal folds. - HPO:probinson - - - Weakness of the vocal cords + + Decreased strength of the vocal folds. + HPO:probinson + + + @@ -59512,7 +60710,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - + A loss of the ability to move the vocal folds. HP:0001605 HP:0006847 @@ -59527,18 +60725,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Laryngeal paralysis - A loss of the ability to move the vocal folds. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Inability to move vocal cords + ORCID:0000-0001-5208-3432 + + A loss of the ability to move the vocal folds. + HPO:probinson + + + @@ -59623,18 +60821,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - HPO:probinson - Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. - - - Hoarse voice + + HPO:probinson + Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. + + + @@ -59658,13 +60856,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Nasal voice + Nasal speech - Nasal speech + Nasal voice @@ -59736,18 +60934,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Inability to produce voice sounds - An impairment in the ability to produce voice sounds. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Inability to produce voice sounds + + An impairment in the ability to produce voice sounds. + HPO:probinson + + + @@ -59770,18 +60968,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0241703 human_phenotype - - High pitched voice - - - - An abnormal increase in the pitch (frequency) of the voice. HPO:probinson + + High pitched voice + + + + @@ -59804,7 +61002,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Soft voice + Weak voice @@ -59816,7 +61014,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Weak voice + Soft voice @@ -59865,16 +61063,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Preterm delivery + Premature delivery of affected infants - Premature delivery of affected infants + HPO:probinson + The birth of a baby of less than 37 weeks of gestational age. - - + Premature birth @@ -59883,10 +61081,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - The birth of a baby of less than 37 weeks of gestational age. + Preterm delivery - + + @@ -59952,6 +61150,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0243050 human_phenotype + + Cardiovascular abnormality + + + + Cardiovascular disease @@ -59970,12 +61174,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Cardiovascular abnormality - - - - @@ -60020,6 +61218,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Congenital heart defects Abnormally shaped heart + + ORCID:0000-0001-5208-3432 + Abnormally shaped heart + + + + Abnormality of the heart @@ -60032,13 +61237,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - orcid.org/0000-0001-5208-3432 - Abnormally shaped heart - - - - @@ -60077,6 +61275,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Ventricular septal defects Ventriculoseptal defect human_phenotype + Fyler:1300 A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. @@ -60126,15 +61325,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:70142008 UMLS:C0018817 human_phenotype + Fyler:2050 Atrial septum defect - - ASD - HPO:skoehler - - - - Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. DDD:dbrown @@ -60142,6 +61335,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + ASD + HPO:skoehler + + + + @@ -60219,6 +61419,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:8074002 UMLS:C0026267 human_phenotype + Fyler:1533 HPO:probinson @@ -60277,7 +61478,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Cardiac failure + Heart failure @@ -60289,14 +61490,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:skoehler - Cardiac failures + Cardiac failure - Heart failure + Cardiac failures + HPO:skoehler @@ -60425,6 +61626,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:85898001 UMLS:C0878544 human_phenotype + Fyler:1840 A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. @@ -60494,14 +61696,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Increased heart size - Enlarged heart + ORCID:0000-0001-5208-3432 + Increased heart size - Increased heart size - orcid.org/0000-0001-5208-3432 + Enlarged heart @@ -60546,7 +61748,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:448643005 UMLS:C3164374 human_phenotype + Fyler:1600 Abnormality of the pulmonary valve + Fyler:1602 Any structural abnormality of the pulmonary valve. @@ -60593,6 +61797,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1956257 human_phenotype Narrowing of pulmonic valve + Fyler:1611 A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). @@ -60602,7 +61807,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Narrowing of pulmonic valve - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -60644,6 +61849,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:83330001 UMLS:C0013274 human_phenotype + Fyler:2100 HPO:probinson @@ -60670,6 +61876,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:399020009 UMLS:C0007193 human_phenotype + Fyler:1843 Congestive cardiomyopathy HP:0200130 @@ -60697,12 +61904,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0085298 human_phenotype - - HPO:probinson - The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). - - - Sudden cardiac death @@ -60715,6 +61916,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + HPO:probinson + The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). + + + @@ -60748,7 +61955,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:448743001 UMLS:C3164445 human_phenotype + Fyler:1408 Abnormality of the aortic valve + Fyler:1400 Any abnormality of the aortic valve. @@ -60795,8 +62004,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas HPO:probinson The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). - PMID:17467434 PMID:24827036 + PMID:17467434 @@ -60848,7 +62057,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Fast heart rate - Increased heart rate + Elevated heart rate @@ -60860,13 +62069,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Heart racing + Increased heart rate - + - Fast heart rate + Racing heart @@ -60878,16 +62087,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Racing heart + Heart racing - Elevated heart rate + Fast heart rate - + @@ -60927,10 +62136,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0003507 Valvular aortic stenosis human_phenotype + Fyler:1411 Narrowing of aortic valve - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Narrowing of aortic valve @@ -60983,6 +62193,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Thoracic situs inversus UMLS:C0011813 human_phenotype + Fyler:0110 + Fyler:110 DDD:dbrown @@ -61031,6 +62243,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0026266 UMLS:C3551535 human_phenotype + Fyler:1151 An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. @@ -61130,6 +62343,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. UMLS:C0016522 human_phenotype + Fyler:2020 DDD:dbrown @@ -61180,23 +62394,23 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Heart attack - HPO:probinson - Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. + MI - + + - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Heart attack - MI + HPO:probinson + Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. - - + @@ -61259,6 +62473,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0041206 UMLS:C4020867 human_phenotype + Fyler:500 + Fyler:0500 A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. @@ -61284,18 +62500,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Brachycardia Slow heartbeats - - A slower than normal heart rate (in adults, slower than 60 beats per minute). - HPO:probinson - - - Slow heartbeats + + A slower than normal heart rate (in adults, slower than 60 beats per minute). + HPO:probinson + + + @@ -61400,10 +62616,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0162770 human_phenotype Heart right ventricle hypertrophy + Fyler:3609 Heart right ventricle hypertrophy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -61500,18 +62717,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormality of the cardiac septa HP:0004760 - - An anomaly of the intra-atrial or intraventricular septum. - HPO:probinson - - - Septal defects + + An anomaly of the intra-atrial or intraventricular septum. + HPO:probinson + + + @@ -61544,6 +62761,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. UMLS:C1389018 human_phenotype + Fyler:1120 A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. @@ -61606,7 +62824,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Plaque build-up in arteries supplying blood to heart @@ -61673,9 +62891,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025756 human_phenotype HP:0030963 + Fyler:1453 Abnormal aorta morphology Abnormality of the aorta + + ORCID:0000-0001-5208-3432 + Abnormal aorta morphology + + + An abnormality of the aorta. HPO:probinson @@ -61683,12 +62908,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Abnormal aorta morphology - orcid.org/0000-0001-5208-3432 - - - @@ -61795,6 +63014,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). UMLS:C0013580 human_phenotype + Fyler:170 + Fyler:0170 Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. @@ -61821,6 +63042,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:204315000 UMLS:C0344724 human_phenotype + Fyler:2000 A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. @@ -61880,8 +63102,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. - PMID:28157267 Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. + PMID:28157267 @@ -61915,6 +63137,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:49710005 UMLS:C0085610 human_phenotype + Fyler:7013 Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. @@ -62043,6 +63266,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype situs oppositus situs transversus + Fyler:100 + Fyler:0100 A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs. @@ -62084,6 +63309,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025754 human_phenotype Abnormality of the pericardium + Fyler:1900 An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. @@ -62106,6 +63332,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:373945007 UMLS:C0031039 human_phenotype + Fyler:1940 Accumulation of fluid within the pericardium. @@ -62306,6 +63533,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:253383003 UMLS:C0040962 human_phenotype + Fyler:1733 HPO:probinson @@ -62383,6 +63611,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0344887 human_phenotype Abnormality of the right ventricle + Fyler:1820 An abnormality of the right ventricle of the heart. @@ -62470,7 +63699,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Abnormal morphology of the left ventricle + Abnormal left ventricle morphology @@ -62499,6 +63728,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0344905 human_phenotype Abnormal heart left ventricle morphology + Fyler:1810 Abnormality of the left ventricle @@ -62509,7 +63739,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal heart left ventricle morphology - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -62550,19 +63780,20 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0149721 human_phenotype Enlargement or increased size of the heart left ventricle. + Fyler:3608 Heart left ventricle hypertrophy - orcid.org/0000-0001-5208-3432 - Heart left ventricle hypertrophy + Enlargement or increased size of the heart left ventricle. + MP:0002625 - + - MP:0002625 - Enlargement or increased size of the heart left ventricle. + ORCID:0000-0001-5208-3432 + Heart left ventricle hypertrophy - + @@ -62755,6 +63986,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:79619009 UMLS:C0026269 human_phenotype + Fyler:1511 Ab abnormal narrowing of the orifice of the mitral valve. @@ -62780,7 +64012,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0013069 human_phenotype DORV + Fyler:600 + Fyler:606 + + DORV + + + + Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. HPO:probinson @@ -62788,12 +64028,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - DORV - - - - @@ -62937,12 +64171,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025751 human_phenotype - - Pancreatic disease - - - - Abnormality of the pancreas @@ -62955,6 +64183,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Pancreatic disease + + + + @@ -63009,8 +64243,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 Pancreatic inflammation + ORCID:0000-0001-5208-3432 @@ -63085,7 +64319,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Acute pancreatic inflammation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -63147,10 +64381,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Pancreatic cyst + A cyst of the pancreas that possess a lining of mucous epithelium. + HPO:probinson - - + Multiple pancreatic cysts @@ -63159,16 +64393,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Pancreatic cysts + Pancreatic cyst - + - A cyst of the pancreas that possess a lining of mucous epithelium. - HPO:probinson + Pancreatic cysts - + + @@ -63324,30 +64558,24 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Obstruction of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - - HPO:probinson - Reduced ability to pass air through the nasal cavity often leading to mouth breathing. - - - Nasal congestion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Congestion of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Nasal blockage - + http://www.entnet.org/content/stuffy-nose @@ -63357,15 +64585,21 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Nasal blockage - orcid.org/0000-0001-5889-4463 + HPO:probinson + Reduced ability to pass air through the nasal cavity often leading to mouth breathing. + + + + + ORCID:0000-0001-5889-4463 + Congestion of nose - + + ORCID:0000-0001-5889-4463 Blockage of nose - orcid.org/0000-0001-5889-4463 @@ -63436,18 +64670,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C4025749 human_phenotype - - An abnormality of the spleen. - HPO:probinson - - - Abnormality of the spleen + + An abnormality of the spleen. + HPO:probinson + + + @@ -63494,8 +64728,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5208-3432 Increased spleen size - orcid.org/0000-0001-5208-3432 @@ -63535,21 +64769,22 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:93030006 UMLS:C0600031 human_phenotype + Fyler:4771 Absent spleen - - orcid.org/0000-0001-5208-3432 - Absent spleen - - - - Absence (aplasia) of the spleen. HPO:curators + + ORCID:0000-0001-5208-3432 + Absent spleen + + + + @@ -63563,6 +64798,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas SNOMEDCT_US:10362008 UMLS:C0266631 human_phenotype + Fyler:4772 An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. @@ -63627,17 +64863,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0152424 human_phenotype Common ventricle + Fyler:0200 The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. + Fyler:200 + ORCID:0000-0001-5208-3432 Common ventricle - orcid.org/0000-0001-5208-3432 - MP:0010432 The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. + MP:0010432 @@ -63771,7 +65009,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Abnormality of the foot + Foot deformity @@ -63783,13 +65021,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - An abnormality of the skeleton of foot. - HPO:probinson - - - - - Abnormality of the feet + Abnormality of the foot @@ -63801,11 +65033,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Foot deformity + Abnormality of the feet + + An abnormality of the skeleton of foot. + HPO:probinson + + + @@ -63880,40 +65118,41 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. UMLS:C0009081 human_phenotype + Fyler:4171 - Club feet + Club foot - HPO:probinson - Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. + Talipes equinovarus, congenital + MEDDRA:10043106 - + - Clubfeet + Club feet - Clubfoot + HPO:probinson + Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. - - + - Talipes equinovarus, congenital - MEDDRA:10043106 + Clubfoot - + + - Club foot + Clubfeet @@ -63962,17 +65201,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. - HPO:probinson - pmid:19125433 - - - - - Flat feet + Fallen arches - + Dropped arches @@ -63981,10 +65213,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Fallen arches + A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. + HPO:probinson + pmid:19125433 - - + Flat foot @@ -63992,6 +65225,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Flat feet + + + + @@ -64018,10 +65257,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. - pmid:19125433 + Hammertoe - + + Hammer toe @@ -64030,10 +65269,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Hammertoe + Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. + pmid:19125433 - - + @@ -64079,8 +65318,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5208-3432 Wide foot - orcid.org/0000-0001-5208-3432 @@ -64143,21 +65382,21 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Webbed toes - HPO:curators - Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism". - - - - - orcid.org/0000-0001-5208-3432 Webbed toes + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + HPO:curators + Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism". + + + + Fused toes + ORCID:0000-0001-5208-3432 @@ -64204,6 +65443,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0410264 human_phenotype + + Tight achilles tendon + + + + A contracture of the Achilles tendon. HPO:probinson @@ -64211,7 +65456,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Tight achilles tendon + Shortening of the achilles tendon @@ -64222,12 +65467,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Shortening of the achilles tendon - - - - @@ -64293,13 +65532,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Short foot - - - - - - Short feet + Small feet @@ -64312,7 +65545,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Small feet + Short feet + + + + + + Short foot @@ -64345,18 +65584,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Club foot on both sides - - Bilateral clubfoot deformity (see HP:0001762). - HPO:probinson - - - Club foot on both sides + + Bilateral clubfoot deformity (see HP:0001762). + HPO:probinson + + + @@ -64394,6 +65633,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype + + Abnormality of toe + + + + An anomaly of a toe. HPO:probinson @@ -64406,12 +65651,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Abnormality of toe - - - - @@ -64498,19 +65737,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Wide long bone of foot - - Wide long bone of foot - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Increased side-to-side width of a metatarsal bone. + + Wide long bone of foot + ORCID:0000-0001-5208-3432 + + + + @@ -64589,18 +65828,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. - pmid:19125433 - - - Narrow foot + + A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. + pmid:19125433 + + + Slender feet @@ -64623,6 +65862,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Delivery complication + + An abnormality of the birth process. + HPO:probinson + + + Delivery complication @@ -64635,12 +65880,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - An abnormality of the birth process. - HPO:probinson - - - @@ -64926,10 +66165,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Aplasia of the nail. - HPO:probinson + Aplastic nails - + + Absent nails @@ -64938,10 +66177,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Aplastic nails + Aplasia of the nail. + HPO:probinson - - + @@ -64983,8 +66222,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Short nails + Short nail + + + + + HPO:skoehler + Short nails @@ -64995,12 +66240,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Short nail - - - - @@ -65036,19 +66275,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Underdeveloped toenails - - http://orcid.org/0000-0001-5208-3432 - Underdeveloped toenails - - - - HPO:probinson Underdevelopment of the toenail. + + ORCID:0000-0001-5208-3432 + Underdeveloped toenails + + + + @@ -65089,10 +66328,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Congenital absence of the toenail. - HPO:probinson + Absent toenail - + + Absent toenails @@ -65100,12 +66339,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Absent toenail - - - - Anonychia of toenails HPO:skoehler @@ -65118,6 +66351,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Congenital absence of the toenail. + HPO:probinson + + + @@ -65138,10 +66377,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Nail pitting + Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. + pmid:19125433 - - + Nail pitting @@ -65156,10 +66395,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. - pmid:19125433 + Nail pitting - + + Nail pits @@ -65205,14 +66444,14 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Small fingernail - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 Underdeveloped fingernail + ORCID:0000-0001-5208-3432 @@ -65263,18 +66502,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0263537 human_phenotype - - Nail that appears thick when viewed on end. - pmid:19125433 - - - Thickened nails + + Nail that appears thick when viewed on end. + pmid:19125433 + + + @@ -65318,13 +66557,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Detachment of nail - - Detachment of nail - http://orcid.org/0000-0001-5208-3432 - - - - Detachment of the nail from the nail bed. HPO:probinson @@ -65337,6 +66569,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Detachment of nail + ORCID:0000-0001-5208-3432 + + + + @@ -65360,29 +66599,29 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Nail ridging + Longitudinal, linear prominences in the nail plate. + pmid:19125433 - - + - Grooved nails + HPO:skoehler + Ridged nails - + - Longitudinal, linear prominences in the nail plate. - pmid:19125433 + Grooved nails - + + - HPO:skoehler - Ridged nails + Nail ridging - + @@ -65419,18 +66658,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1856963 human_phenotype - - HPO:probinson - Nails that easily break. - - - Brittle nails + + HPO:probinson + Nails that easily break. + + + @@ -65518,9 +66757,9 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Poor toenail formation - http://orcid.org/0000-0001-5208-3432 - http://naildystrophy.com/ + ORCID:0000-0001-5208-3432 Poor toenail formation + http://naildystrophy.com/ @@ -65618,10 +66857,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Thin nails + HPO:probinson + Nail that appears thin when viewed on end. + pmid:19125433 - - + Thin nail @@ -65630,11 +66870,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - Nail that appears thin when viewed on end. - pmid:19125433 + Thin nails - + + @@ -65673,18 +66912,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Aplasia of the fingernail - - Anonychia of fingernails - HPO:skoehler - - - Absent fingernail + + Anonychia of fingernails + HPO:skoehler + + + Absence of a fingernail. HPO:probinson @@ -65737,11 +66976,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas White discoloration of nails - White discoloration of nails - orcid.org/0000-0001-5208-3432 + Leukonychia + MEDDRA:10050658 - - + HPO:probinson @@ -65750,10 +66988,11 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Leukonychia - MEDDRA:10050658 + White discoloration of nails + ORCID:0000-0001-5208-3432 - + + @@ -65792,18 +67031,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Wide fingernails human_phenotype - - Broad nail - - - - HPO:probinson Increased width of nail. + + Broad nail + + + + Wide fingernails @@ -65859,7 +67098,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Bunion - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bunion @@ -66131,7 +67370,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Stubby toes @@ -66191,18 +67430,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormality of the long bone of foot - Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the long bone of foot + + Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). + HPO:probinson + + + @@ -66251,10 +67490,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Long foot + Increased back to front length of the foot. + UHPO:probinson - - + long feet @@ -66263,10 +67502,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Increased back to front length of the foot. - UHPO:probinson + Long foot - + + Disproportionately large feet @@ -66353,18 +67592,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. - pmid:19125433 - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide toe + + Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. + pmid:19125433 + + + Broad toe @@ -66420,10 +67659,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Vertical talus - MEDDRA:10066242 + Rocker bottom feet - + + + + + HPO:probinson + The presence of both a prominent heel and a convex contour of the sole. + pmid:19125433 + + Rocker bottom foot @@ -66432,10 +67678,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Rockerbottom feet + Vertical talus + MEDDRA:10066242 - - + Rocker-bottom feet @@ -66444,14 +67690,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - The presence of both a prominent heel and a convex contour of the sole. - pmid:19125433 - - - - - Rocker bottom feet + Rockerbottom feet @@ -66478,18 +67717,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - - Lobster-claw foot deformity - - - - A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. HPO:sdoelken + + Split foot + + + + Split-foot @@ -66497,7 +67736,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Split foot + Lobster-claw foot deformity @@ -66679,18 +67918,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:probinson - This term applies for all abnormalities of the big toe, also called hallux. - - - - + ORCID:0000-0001-5208-3432 Abnormality of the big toe - orcid.org/0000-0001-5208-3432 + + HPO:probinson + This term applies for all abnormalities of the big toe, also called hallux. + + + @@ -66718,30 +67957,30 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - HPO:skoehler - Overlapping toes + Overriding toes - Overriding toes + Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. + HPO:probinson + pmid:19125433 - - + - Overlapping toe + HPO:skoehler + Overlapping toes - Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. - HPO:probinson - pmid:19125433 + Overlapping toe - + + @@ -66783,19 +68022,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Long big toe - - Long big toe - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Increased length of the big toe. + + ORCID:0000-0001-5208-3432 + Long big toe + + + + @@ -66939,19 +68178,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Abnormal tarsals Abnormal ankle bones - - http://orcid.org/0000-0001-5208-3432 - Abnormal ankle bones - - - - An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. HPO:curators + + ORCID:0000-0001-5208-3432 + Abnormal ankle bones + + + + @@ -66978,20 +68217,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - A widely spaced gap between the first toe (the great toe) and the second toe. - HPO:probinson - pmid:19125433 + Gap between 1st and 2nd toes - + + - Increased space between first and second toes + Widened gap first and second toe - Gap between 1st and 2nd toes + Sandal gap between first and second toes @@ -67003,43 +68241,44 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Widened gap 1st-2nd toes + Increased space between first and second toes - Widened gap first and second toe + Wide space between first and second toes - Wide space between 1st, 2nd toes + A widely spaced gap between the first toe (the great toe) and the second toe. + HPO:probinson + pmid:19125433 - - + - Widely spaced 1st-2nd toes + Widely spaced first and second toes - Sandal gap between first and second toes + Widely spaced 1st-2nd toes - Widely spaced first and second toes + Widened gap 1st-2nd toes - Wide space between first and second toes + Wide space between 1st, 2nd toes @@ -67081,7 +68320,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Notched outermost bones of toes - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Notched outermost bones of toes @@ -67167,8 +68406,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Short outermost bone of toe - orcid.org/0000-0001-5208-3432 Short outermost bone of toe + ORCID:0000-0001-5208-3432 @@ -67265,18 +68504,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Toe curvature - Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Toe curvature - orcid.org/0000-0001-5208-3432 + + Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). + HPO:probinson + + + @@ -67315,6 +68554,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Curvature of the pinky toe Curvature of the little toe + + ORCID:0000-0001-5208-3432 + Curvature of the little toe + + + Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). HPO:probinson @@ -67322,23 +68567,17 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - orcid.org/0000-0001-5208-3432 Curvature of the pinkie toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curvature of the pinky toe - - orcid.org/0000-0001-5208-3432 - Curvature of the little toe - - - @@ -67638,18 +68877,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0427515 human_phenotype - - A neutrophil abnormality. - HPO:probinson - - - Abnormality of neutrophils + + A neutrophil abnormality. + HPO:probinson + + + @@ -67690,19 +68929,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Low neutrophil count Low blood neutrophil count - - orcid.org/0000-0001-5208-3432 - Low blood neutrophil count - - - - An abnormally low number of neutrophils in the peripheral blood. HPO:probinson + + Low blood neutrophil count + ORCID:0000-0001-5208-3432 + + + + Low neutrophil count @@ -67754,18 +68993,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Low blood cell count - An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Low blood cell count - orcid.org/0000-0001-5208-3432 + + An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). + HPO:probinson + + + @@ -67945,19 +69184,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype High blood eosinophil count - - High blood eosinophil count - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Increased count of eosinophils in the blood. + + ORCID:0000-0001-5208-3432 + High blood eosinophil count + + + + @@ -68057,18 +69296,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - An abnormal decreased number of leukocytes in the blood. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Decreased blood leukocyte number + + An abnormal decreased number of leukocytes in the blood. + HPO:probinson + + + @@ -68111,18 +69350,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C3552713 human_phenotype - - A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. - HPO:sdoelken - - - HPO:skoehler Talipes foot deformities + + A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. + HPO:sdoelken + + + @@ -68180,18 +69419,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Underdevelopment (hypoplasia) of the second toe. human_phenotype - - HPO:probinson - Underdevelopment (hypoplasia) of the second toe. - - - Short second toe + + HPO:probinson + Underdevelopment (hypoplasia) of the second toe. + + + @@ -68263,17 +69502,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Low lymphocyte number - http://orcid.org/0000-0001-5208-3432 - Decreased blood lymphocyte number - - - - - - http://orcid.org/0000-0001-7941-2961 + ORCID:0000-0001-7941-2961 Low lymphocyte number - + @@ -68282,6 +69514,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Decreased blood lymphocyte number + ORCID:0000-0001-5208-3432 + + + + @@ -68346,8 +69585,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Ferropenic - orcid.org/0000-0001-6908-9849 Ferropenic + ORCID:0000-0001-6908-9849 @@ -68396,18 +69635,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C1458140 human_phenotype - - An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. - HPO:probinson - - - Bleeding tendency + + An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. + HPO:probinson + + + @@ -68681,7 +69920,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Abnormally shaped erythrocytes @@ -68930,7 +70169,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Blood cancer - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -69140,16 +70379,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Acute kidney failure - HPO:probinson - Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). + Acute kidney failure + ORCID:0000-0001-5208-3432 - + - orcid.org/0000-0001-5208-3432 - Acute kidney failure + HPO:probinson + Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). - + @@ -69188,20 +70427,21 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0035067 human_phenotype Narrowing of kidney artery + Fyler:2634 - HPO:probinson - The presence of stenosis of the renal artery. - - - - + ORCID:0000-0001-5208-3432 Narrowing of kidney artery - orcid.org/0000-0001-5208-3432 + + HPO:probinson + The presence of stenosis of the renal artery. + + + @@ -69383,6 +70623,13 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype Abnormal blood clotting + + Abnormal blood clotting + ORCID:0000-0001-6908-9849 + + + + HPO:sdoelken Haemorrhagic disorders @@ -69395,13 +70642,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - - Abnormal blood clotting - orcid.org/0000-0001-6908-9849 - - - - @@ -69515,8 +70755,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + ORCID:0000-0001-5208-3432 Bleeding below the skin - orcid.org/0000-0001-5208-3432 @@ -69538,19 +70778,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - Excessive bleeding after minor trauma + Prolonged bleeding after minor trauma - Prolonged bleeding after minor trauma + Frequent bleeding with trauma - Frequent bleeding with trauma + Excessive bleeding after minor trauma @@ -69686,18 +70926,18 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas acidemia human_phenotype - - HPO:SKOEHLER - acidemia - - - Abnormal acid accumulation or depletion of base. HPO:probinson + + HPO:SKOEHLER + acidemia + + + @@ -69770,8 +71010,8 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Low blood sugar - orcid.org/0000-0001-5208-3432 Low blood sugar + ORCID:0000-0001-5208-3432 @@ -69876,19 +71116,19 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype High levels of ketone bodies - - http://orcid.org/0000-0001-5208-3432 - High levels of ketone bodies - - - - HPO:probinson Presence of elevated levels of ketone bodies in the body. + + ORCID:0000-0001-5208-3432 + High levels of ketone bodies + + + + @@ -70057,12 +71297,6 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas UMLS:C0277799 human_phenotype - - Episodic fever - - - - HPO:probinson Periodic (episodic or recurrent) bouts of fever. @@ -70081,6 +71315,12 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas + + Episodic fever + + + + @@ -70257,15 +71497,15 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Underdeveloped heart - Underdeveloped heart - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small heart - orcid.org/0000-0001-5208-3432 - Small heart + ORCID:0000-0001-5208-3432 + Underdeveloped heart @@ -70289,10 +71529,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Palpitations - Skipped heart beat + A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. + HPO:probinson - - + Palpitations @@ -70301,16 +71541,16 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Missed heart beat + Skipped heart beat - A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. - HPO:probinson + Missed heart beat - + + @@ -70328,10 +71568,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas human_phenotype - A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. - HPO:curators + Poor speech discrimination - + + Abnormal speech discrimination @@ -70340,10 +71580,10 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas - Poor speech discrimination + A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. + HPO:curators - - + @@ -70386,25 +71626,25 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Absent/underdeveloped long bone of foot - Absence or underdevelopment of the metatarsal bones. - HPO:curators - - - - - http://orcid.org/0000-0001-5208-3432 Absent/small long bone of foot + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped long bone of foot - http://orcid.org/0000-0001-5208-3432 + + Absence or underdevelopment of the metatarsal bones. + HPO:curators + + + @@ -70443,7 +71683,7 @@ to esophageal inlet inferiorly, and is composed of three distinct areas: the nas Anomaly of scalp - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -70700,6 +71940,13 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru High white blood count Elevated white blood count + + Increased blood leukocyte number + ORCID:0000-0001-5208-3432 + + + + An abnormal increase in the number of leukocytes in the blood. HPO:probinson @@ -70712,13 +71959,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - - orcid.org/0000-0001-5208-3432 - Increased blood leukocyte number - - - - Elevated white blood count @@ -70797,7 +72037,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Abnormal blood clot @@ -71032,18 +72272,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru High blood ammonia levels - An increased concentration of ammonia in the blood. - HPO:gcarletti - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High blood ammonia levels + + An increased concentration of ammonia in the blood. + HPO:gcarletti + + + @@ -71096,17 +72336,17 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Recurrent low blood sugar levels - orcid.org/0000-0001-5208-3432 - Recurrent low blood sugar levels + HPO:skoehler + hypoglycaemia, recurrent - - HPO:gcarletti - Recurrent episodes of decreased concentration of glucose in the blood. + Recurrent low blood sugar levels + ORCID:0000-0001-5208-3432 - + + HPO:skoehler @@ -71115,10 +72355,10 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - HPO:skoehler - hypoglycaemia, recurrent + HPO:gcarletti + Recurrent episodes of decreased concentration of glucose in the blood. - + @@ -71139,18 +72379,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype - - Fetal akinesia - HPO:skoehler - - - Decreases fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). HPO:probinson + + Fetal akinesia + HPO:skoehler + + + Early severe fetal akinesia sequence HPO:skoehler @@ -71196,21 +72436,15 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Absent/small toe - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped toe + ORCID:0000-0001-5208-3432 + Absent/small toe - Absent/hypoplastic toes - HPO:skoehler - - - - - Absent/small toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped toe @@ -71221,6 +72455,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru + + Absent/hypoplastic toes + HPO:skoehler + + + @@ -71446,7 +72686,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Low blood sugar in newborn - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -71508,83 +72748,83 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Unusual facies human_phenotype Abnormal morphology of the face - Distortion of face Deformity of face + Distortion of face Facial Dysmorphism - Funny looking face Malformation of face + Funny looking face - orcid.org/0000-0001-5889-4463 - Funny looking face + Facial Dysmorphism + ORCID:0000-0001-5889-4463 - - + + ORCID:0000-0001-5889-4463 Malformation of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deformity of face - orcid.org/0000-0001-5889-4463 - Abnormal facial shape + Dysmorphic facies + ORCID:0000-0001-5889-4463 - - Distortion of face - orcid.org/0000-0001-5889-4463 + Facial dysmorphism + ORCID:0000-0001-5889-4463 - - + - An abnormal morphology (form) of the face or its components. - DDD:jclayton-smith + Funny looking face + ORCID:0000-0001-5889-4463 - + + - Unusual facial appearance - orcid.org/0000-0001-5889-4463 + Abnormal facial shape - Facial dysmorphism - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormal morphology of the face - Facial Dysmorphism - orcid.org/0000-0001-5889-4463 + An abnormal morphology (form) of the face or its components. + DDD:jclayton-smith - + - Dysmorphic facies - orcid.org/0000-0001-5889-4463 + Unusual facial appearance + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Abnormal morphology of the face + Distortion of face + ORCID:0000-0001-5889-4463 - + + @@ -71626,22 +72866,22 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Reduced distance from the anterior border of the naris to the subnasale. - pmid:19152422 + ORCID:0000-0001-5889-4463 + Decreased length of columella - + - orcid.org/0000-0001-5889-4463 Hypoplasia of columella + ORCID:0000-0001-5889-4463 - Decreased length of columella - orcid.org/0000-0001-5889-4463 + Reduced distance from the anterior border of the naris to the subnasale. + pmid:19152422 - + @@ -71687,22 +72927,22 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. - pmid:19152422 + Pronounced philtrum + ORCID:0000-0001-5889-4463 - + Increased depth of philtrum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Pronounced philtrum - orcid.org/0000-0001-5889-4463 + Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. + pmid:19152422 - + @@ -71743,12 +72983,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Increased size of forehead Increased size of frontal region of face - - orcid.org/0000-0001-5889-4463 - Hypertrophy of forehead - - - Large forehead @@ -71756,24 +72990,30 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - orcid.org/0000-0001-5889-4463 Increased size of forehead + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hyperplasia of forehead + ORCID:0000-0001-5889-4463 + Hypertrophy of forehead + ORCID:0000-0001-5889-4463 Increased size of frontal region of face - orcid.org/0000-0001-5889-4463 + + Hyperplasia of forehead + ORCID:0000-0001-5889-4463 + + + @@ -71815,36 +73055,36 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Tessier facial cleft - A congenital malformation with a cleft (gap or opening) in the face. - HPO:probinson + Cleft of the face + ORCID:0000-0001-5889-4463 - + + - Facial clefts - HPO:skoehler + Facial cleft - + - Cleft of the face - orcid.org/0000-0001-5889-4463 + Facial clefts + HPO:skoehler - + - Facial cleft + A congenital malformation with a cleft (gap or opening) in the face. + HPO:probinson - - + @@ -71890,13 +73130,13 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - orcid.org/0000-0001-5889-4463 Skull bossing + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Frontal protruberance @@ -71969,54 +73209,54 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Decreased width of maxilla - orcid.org/0000-0001-5889-4463 - Decreased width of maxilla + ORCID:0000-0001-5889-4463 + Transverse hypoplasia of maxilla - orcid.org/0000-0001-5889-4463 - Transverse maxillary insufficiency + Decreased breadth of upper jaw bones + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Transverse maxillary deficiency + ORCID:0000-0001-5889-4463 + Decreased width of upper jaw bones + - orcid.org/0000-0001-5889-4463 - Transverse hypoplasia of maxilla + Transverse maxillary insufficiency + ORCID:0000-0001-5889-4463 - Narrow upper jaw bones - orcid.org/0000-0001-5889-4463 + Decreased transverse dimension of maxilla + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Decreased transverse dimension of maxilla + Narrow upper jaw bones + ORCID:0000-0001-5889-4463 + - Decreased breadth of upper jaw bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased width of maxilla - - orcid.org/0000-0001-5889-4463 - Decreased width of upper jaw bones + Transverse maxillary deficiency + ORCID:0000-0001-5889-4463 - @@ -72137,6 +73377,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Throwing up + + Vomiting + + + + Vomiting MEDDRA:10047700 @@ -72149,12 +73395,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - - Vomiting - - - - Throwing up @@ -72255,13 +73495,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Poor swallowing - - - - - - Swallowing difficulty + Swallowing difficulties @@ -72273,7 +73507,13 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Swallowing difficulties + Poor swallowing + + + + + + Swallowing difficulty @@ -72316,18 +73556,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype - - A sensation of unease in the stomach together with an urge to vomit. - HPO:probinson - - - Nausea MEDDRA:10028813 + + A sensation of unease in the stomach together with an urge to vomit. + HPO:probinson + + + Nausea @@ -72416,11 +73656,17 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Acid reflux + Acid reflux disease + + A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. + HPO:probinson + + + GERD HPO:skoehler @@ -72429,20 +73675,14 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Acid reflux disease + Heartburn + ORCID:0000-0001-5208-3432 - A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 - Heartburn + Acid reflux @@ -72483,6 +73723,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru SNOMEDCT_US:367403001 UMLS:C0034194 human_phenotype + Fyler:4444 @@ -72535,6 +73776,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru SNOMEDCT_US:204731006 UMLS:C0003466 human_phenotype + Fyler:4443 + Fyler:4402 @@ -72585,18 +73828,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru UMLS:C3714745 human_phenotype - - Intestinal malabsorption - - - - HPO:probinson Impaired ability to absorb one or more nutrients from the intestine. + + Intestinal malabsorption + + + + Malabsorption @@ -72642,8 +73885,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru + ORCID:0000-0001-5208-3432 Narrowing of anal opening - orcid.org/0000-0001-5208-3432 @@ -72686,29 +73929,29 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Gastrointestinal pain + Abdominal discomfort - + - Pain in stomach + ORCID:0000-0002-0736-9199 + Stomach pain - Gastro pain + Gastrointestinal pain - Stomach pain - orcid.org/0000-0002-0736-9199 + Abdominal pain + MEDDRA:10000081 - - + Abdominal pain @@ -72717,16 +73960,10 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Abdominal discomfort + Gastro pain - - - - Abdominal pain - MEDDRA:10000081 - - + An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. @@ -72734,6 +73971,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru + + Pain in stomach + + + + @@ -72752,24 +73995,24 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype - Diarrhea, recurrent HPO:skoehler + Recurrent diarrhea - HPO:skoehler - Recurrent diarrhea + Chronic diarrhea - + - Chronic diarrhea + Diarrhea, recurrent + HPO:skoehler - + HPO:probinson @@ -72813,18 +74056,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru UMLS:C0266126 human_phenotype - - Abnormality of esophagus morphology - - - - A structural abnormality of the esophagus. HPO:probinson + + Abnormality of esophagus morphology + + + + @@ -72860,6 +74103,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru SNOMEDCT_US:26179002 UMLS:C0014850 human_phenotype + Fyler:4412 A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. @@ -72908,12 +74152,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - - An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. - HPO:curators - - - HPO:skoehler Poor sucking @@ -72921,6 +74159,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru + + An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. + HPO:curators + + + @@ -72964,18 +74208,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - - Anomaly of the rectum - - - - An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. HPO:probinson + + Anomaly of the rectum + + + + @@ -73014,12 +74258,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype - - HPO:probinson - Protrusion of the rectal mucous membrane through the anus. - - - HPO:skoehler Rectal prolapsed @@ -73032,6 +74270,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru + + HPO:probinson + Protrusion of the rectal mucous membrane through the anus. + + + @@ -73086,8 +74330,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - orcid.org/0000-0001-5208-3432 Stomach hernia + ORCID:0000-0001-5208-3432 @@ -73244,18 +74488,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype - - Extreme dilation of the submucusoal veins in the lower portion of the esophagus. - HPO:probinson - - - Varices oesophageal MEDDRA:10056091 + + Extreme dilation of the submucusoal veins in the lower portion of the esophagus. + HPO:probinson + + + @@ -73328,18 +74572,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype - - A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. - HPO:probinson - - - Zollinger-Ellison syndrome MEDDRA:10048281 + + A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. + HPO:probinson + + + @@ -73358,6 +74602,13 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype Abnormally low body temperature + + ORCID:0000-0001-5208-3432 + Abnormally low body temperature + + + + HPO:sdoelken Reduced body temperature due to failed thermoregulation. @@ -73370,13 +74621,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - - Abnormally low body temperature - orcid.org/0000-0001-5208-3432 - - - - @@ -73396,10 +74640,10 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Heat intolerance + HPO:probinson + The inability to maintain a comfortably body temperature in warm or hot weather. - - + Intolerance to heat and fevers @@ -73408,10 +74652,10 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - HPO:probinson - The inability to maintain a comfortably body temperature in warm or hot weather. + Heat intolerance - + + @@ -73528,16 +74772,16 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Heavy brow of the face - Heavy brow of the face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Heavy supraorbital ridge - - Heavy supraorbital ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Heavy brow of the face + @@ -73590,31 +74834,31 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Abnormality of the area between the eyebrows - Deformity of the area between the eyebrows - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of the area between the eyebrows - + - orcid.org/0000-0001-5889-4463 - Abnormality of the area between the eyebrows + An abnormality of the glabella. + HPO:probinson - - + - Malformation of the area between the eyebrows - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the area between the eyebrows - An abnormality of the glabella. - HPO:probinson + ORCID:0000-0001-5889-4463 + Malformation of the area between the eyebrows - + + @@ -73655,13 +74899,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Protruding area between the eyebrows - - orcid.org/0000-0001-5889-4463 - Protruding area between the eyebrows - - - - Forward protrusion of the glabella. HPO:probinson @@ -73670,20 +74907,27 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - orcid.org/0000-0001-5889-4463 + Protruding area between the eyebrows + ORCID:0000-0001-5889-4463 + + + + + Prominent area between the eyebrows + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Hyperplasia of glabella + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Convex glabella @@ -73706,8 +74950,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Myopathic facial appearance + ORCID:0000-0001-5889-4463 Myopathic facial appearance - orcid.org/0000-0001-5889-4463 @@ -73767,8 +75011,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - orcid.org/0000-0001-5208-3432 Degeneration of cerebrum + ORCID:0000-0001-5208-3432 @@ -73916,6 +75160,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru UMLS:C0026837 human_phenotype + + Rigidity + + + + Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. HPO:probinson @@ -73928,12 +75178,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - - Rigidity - - - - @@ -73950,8 +75194,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Spastic walk - http://orcid.org/0000-0001-5208-3432 Spastic walk + ORCID:0000-0001-5208-3432 @@ -73999,19 +75243,19 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Slow movements Slowness of movements - - Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). - HPO:probinson - - - Slow movements - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). + HPO:probinson + + + Slowness of movements @@ -74082,6 +75326,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Tonic-clonic convulsions Tonic-clonic convulsion + + HPO:skoehler + Tonic-clonic convulsions + + + Grand mal seizures @@ -74095,14 +75345,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Tonic-clonic convulsion - HPO:skoehler - - - - - Tonic-clonic convulsions HPO:skoehler + Tonic-clonic convulsion @@ -74298,7 +75542,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Intermittent migraine headaches + Migraine @@ -74311,13 +75555,13 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Migraine + Migraine headaches - Migraine headaches + Intermittent migraine headaches @@ -74680,13 +75924,13 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Upper respiratory tract issues - Upper respiratory tract issues + Abnormality of the upper respiratory tract - Abnormality of the upper respiratory tract + Upper respiratory tract issues @@ -74744,12 +75988,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - - Unusal lung shape - - - - Abnormality of the lungs @@ -74757,7 +75995,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Abnormally shaped lung + Unusal lung shape @@ -74774,6 +76012,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru + + Abnormally shaped lung + + + + @@ -74813,15 +76057,15 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Underdeveloped lung - Small lung - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Underdeveloped lung - Underdeveloped lung - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small lung @@ -74903,8 +76147,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Restrictive lung disease - orcid.org/0000-0001-5208-3432 Restrictive lung disease + ORCID:0000-0001-5208-3432 @@ -74966,18 +76210,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru UMLS:C3203102 human_phenotype - - HPO:skoehler - Primary pulmonary hypertension - - - HPO:probinson Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. + + HPO:skoehler + Primary pulmonary hypertension + + + @@ -75124,29 +76368,29 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Short of breath - Shortness of breath + ORCID:0000-0001-6908-9849 + Breathing difficulties - + - Short of breath + Difficulty breathing - + - orcid.org/0000-0001-6908-9849 - Breathing difficulties + Short of breath - + - Difficulty breathing + Shortness of breath - + @@ -75170,18 +76414,18 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru UMLS:C3714497 human_phenotype - - Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. - HPO:probinson - - - Asthma + + Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. + HPO:probinson + + + @@ -75265,15 +76509,15 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru HPO:sdoelken - Pleurisy + Inflammation of the pleura. - + HPO:sdoelken - Inflammation of the pleura. + Pleurisy - + @@ -75378,6 +76622,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype Haemoptysis Coughing up blood or blood-stained mucus + Coughing up blood Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. @@ -75386,10 +76631,11 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Coughing up blood or blood-stained mucus + Coughing up blood + ORCID:0000-0002-6548-5200 - + Haemoptysis @@ -75397,6 +76643,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru + + Coughing up blood or blood-stained mucus + + + + @@ -75420,8 +76672,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru + ORCID:0000-0001-5208-3432 Collapsed lung - orcid.org/0000-0001-5208-3432 @@ -75440,7 +76692,15 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru SNOMEDCT_US:80423007 UMLS:C0149781 human_phenotype + Spontaneous collapsed lung + + ORCID:0000-0002-6548-5200 + Spontaneous collapsed lung + + + + HPO:probinson Pneumothorax occurring without traumatic injury to the chest or lung. @@ -75453,43 +76713,11 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Abnormality of the bronchi - - - - - - - - - - - - - - - - - - - - - - An abnormality of the set of bronchi. - Bronchial disease + obsolete Abnormality of the bronchi HP:0002109 - MSH:D001982 - SNOMEDCT_US:41427001 - UMLS:C0006261 - UMLS:C4025725 - human_phenotype + true + HP:0025426 - - An abnormality of the set of bronchi. - HPO:probinson - - - @@ -75531,8 +76759,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Restrictive respiratory insufficiency' + NIHR:ldaugherty FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. - NIHR:ldaugherty @@ -75551,8 +76779,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Lung infiltrates - orcid.org/0000-0001-5208-3432 Lung infiltrates + ORCID:0000-0001-5208-3432 @@ -75813,8 +77041,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Abnormal shape of upper motor neuron + ORCID:0000-0001-5208-3432 Abnormal shape of upper motor neuron - orcid.org/0000-0001-5208-3432 @@ -75837,8 +77065,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype Paroxysmal ataxia Intermittent cerebellar ataxia - HP:0006862 HP:0007214 + HP:0006862 HPO:probinson @@ -76017,19 +77245,19 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype Wide based walk - - http://orcid.org/0000-0001-5208-3432 - Wide based walk - - - - An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. HPO:curators + + ORCID:0000-0001-5208-3432 + Wide based walk + + + + @@ -76098,20 +77326,20 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Imbalanced walk - orcid.org/0000-0001-5208-3432 Imbalanced walk + ORCID:0000-0001-5208-3432 - Abnormality of balance + Abnormality of equilibrium - Abnormality of equilibrium + Abnormality of balance @@ -76155,6 +77383,12 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru human_phenotype Spinal cord pathology + + An abnormality of the spinal cord (myelon). + HPO:probinson + + + Abnormality of the spinal cord @@ -76167,12 +77401,6 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - - An abnormality of the spinal cord (myelon). - HPO:probinson - - - @@ -76190,16 +77418,16 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Occult spinal dysraphism - During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. - HPO:curators + ORCID:0000-0001-5208-3432 + Occult spinal dysraphism - + - orcid.org/0000-0001-5208-3432 - Occult spinal dysraphism + During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. + HPO:curators - + @@ -76278,7 +77506,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Low blood phosphate level - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -76338,8 +77566,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - http://orcid.org/0000-0001-5208-3432 High blood uric acid level + ORCID:0000-0001-5208-3432 @@ -76392,7 +77620,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Elevated urine calcium levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -76547,8 +77775,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Elevated serum potassium levels + ORCID:0000-0001-5208-3432 Elevated serum potassium levels - orcid.org/0000-0001-5208-3432 @@ -76608,8 +77836,8 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Elevated blood glycine levels + ORCID:0000-0001-5208-3432 Elevated blood glycine levels - orcid.org/0000-0001-5208-3432 @@ -76674,15 +77902,15 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru Increased plasma Tg levels - An abnormal increase in the level of triglycerides in the blood. - HPO:probinson + Increased plasma triglycerides - + + - Increased triglycerides + Increased circulating Tg levels - + @@ -76692,19 +77920,19 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - Increased circulating Tg levels + An abnormal increase in the level of triglycerides in the blood. + HPO:probinson - - + - Increased serum triglycerides + Increased triglycerides - Increased plasma triglycerides + Increased serum triglycerides @@ -76764,7 +77992,7 @@ system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Dru - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High urine homocystine levels @@ -76920,7 +78148,7 @@ Hyperhomocystinemic patients show blood homocystine levels in the range of 50-20 Elevated blood homocystine - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Elevated blood homocystine @@ -76988,8 +78216,8 @@ Hyperhomocystinemic patients show blood homocystine levels in the range of 50-20 - orcid.org/0000-0001-5208-3432 Elevated blood lysine + ORCID:0000-0001-5208-3432 @@ -77014,7 +78242,7 @@ Hyperhomocystinemic patients show blood homocystine levels in the range of 50-20 Low hairline at back of neck - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -77115,13 +78343,13 @@ Hyperhomocystinemic patients show blood homocystine levels in the range of 50-20 human_phenotype - Decreased vibratory sense in the lower limbs + A decrease in the ability to perceive vibration in the legs. + HPO:curators - - + - Impaired vibration sensation in the lower limbs + Diminished vibratory sensation in the legs @@ -77133,25 +78361,25 @@ Hyperhomocystinemic patients show blood homocystine levels in the range of 50-20 - Decreased vibratory sense in lower limbs + Decreased vibratory sense in the lower extremities - A decrease in the ability to perceive vibration in the legs. - HPO:curators + Decreased vibratory sense in the lower limbs - + + - Diminished vibratory sensation in the legs + Decreased vibratory sense in lower limbs - Decreased vibratory sense in the lower extremities + Impaired vibration sensation in the lower limbs @@ -77173,13 +78401,13 @@ Hyperhomocystinemic patients show blood homocystine levels in the range of 50-20 human_phenotype - Speech impairment + Speech impediment - Speech impediment + Speech impairment @@ -77208,7 +78436,7 @@ Hyperhomocystinemic patients show blood homocystine levels in the range of 50-20 Explosive speech - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -77290,7 +78518,7 @@ Hyperhomocystinemic patients show blood homocystine levels in the range of 50-20 Bleeding within the skull - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -77579,18 +78807,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Brain swelling - Abnormal accumulation of fluid in the brain. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Brain swelling - orcid.org/0000-0001-5208-3432 + + Abnormal accumulation of fluid in the brain. + HPO:probinson + + + @@ -77609,8 +78837,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Fear of loud sounds - orcid.org/0000-0001-5208-3432 Fear of loud sounds + ORCID:0000-0001-5208-3432 @@ -77873,18 +79101,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C1837658 human_phenotype - - Delayed motor skills - - - - A type of motor delay characterized by an delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. HPO:probinson + + Delayed motor skills + + + + @@ -78045,7 +79273,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Low calcium seizures - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -78170,13 +79398,6 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The human_phenotype respiratory infections, recurrent - - HPO:skoehler - respiratory infections, recurrent - - - - An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. HPO:probinson @@ -78184,19 +79405,26 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Multiple respiratory infections + Recurrent respiratory infections - Recurrent respiratory infections + Frequent respiratory infections - Frequent respiratory infections + HPO:skoehler + respiratory infections, recurrent + + + + + + Multiple respiratory infections @@ -78314,17 +79542,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - HPO:probinson - Hair shafts are rough in texture. + Coarse hair texture + ORCID:0000-0001-5889-4463 - + + - Coarse hair texture - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Rough hair texture - + Coarse hair @@ -78333,11 +79562,10 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5889-4463 - Rough hair texture + HPO:probinson + Hair shafts are rough in texture. - - + @@ -78388,40 +79616,40 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The sparse-absent scalp hair - Scalp hair, thinning + Thin scalp hair - + - Sparse, thin scalp hair + Decreased number of head hairs per unit area. + pmid:19125436 - - + - Sparse scalp hair + Scalp hair, thinning - Decreased number of head hairs per unit area. - pmid:19125436 + sparse-absent scalp hair - + + - sparse-absent scalp hair + Sparse, thin scalp hair - Thin scalp hair + Sparse scalp hair - + @@ -78441,23 +79669,23 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Poliosis of anterior hair - - orcid.org/0000-0001-5889-4463 - Poliosis of forelock hair - - - A triangular depigmented region of white hairs located in the anterior midline of the scalp. DDD:probinson + + ORCID:0000-0001-5889-4463 + Poliosis of forelock hair + + + @@ -78542,11 +79770,10 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5889-4463 - Fine hair texture + HPO:probinson + Hair that is fine or thin to the touch. - - + Fine hair @@ -78555,31 +79782,32 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5889-4463 - Thin hair shaft + ORCID:0000-0001-5889-4463 + Fine hair texture - orcid.org/0000-0001-5889-4463 - Fine hair shaft + ORCID:0000-0001-5889-4463 + Thin hair texture - Thin hair texture - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Fine hair shaft - HPO:probinson - Hair that is fine or thin to the touch. + ORCID:0000-0001-5889-4463 + Thin hair shaft - + + @@ -78620,6 +79848,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C1858574 human_phenotype sparse to absent axillary hair + Little underarm hair HPO:probinson @@ -78627,6 +79856,13 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The + + Little underarm hair + ORCID:0000-0002-6548-5200 + + + + @@ -78650,32 +79886,25 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - HPO:skoehler - Premature graying of the hair - - - - - - Early graying + Premature greying - Premature graying of hair + Premature hair graying - Premature graying + Early graying - Premature greying + Premature graying @@ -78687,11 +79916,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Premature hair graying + Premature graying of hair + + HPO:skoehler + Premature graying of the hair + + + + @@ -78713,12 +79949,6 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Slow speed of hair growth - - HPO:probinson - Hair whose growth is slower than normal. - - - Slow-growing hair @@ -78726,21 +79956,27 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5889-4463 + HPO:probinson + Hair whose growth is slower than normal. + + + + + ORCID:0000-0001-5889-4463 Slow rate of hair growth - Slow growing hair + Slow speed of hair growth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Slow speed of hair growth + Slow growing hair @@ -78762,13 +79998,13 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The human_phenotype - Silvery-gray hair + HPO:probinson + Hypopigmented hair that appears silver-gray. - - + - Silver-gray hair + Silvery-gray hair @@ -78780,10 +80016,10 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - HPO:probinson - Hypopigmented hair that appears silver-gray. + Silver-gray hair - + + @@ -78820,8 +80056,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Increased facial hair growth - orcid.org/0000-0001-5208-3432 Increased facial hair growth + ORCID:0000-0001-5208-3432 @@ -78922,54 +80158,54 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Failure of development of eyebrows Missing eyebrows Agenesis of eyebrows - Loss of eyebrows Aplasia of eyebrows + Loss of eyebrows + ORCID:0000-0001-5889-4463 Agenesis of eyebrows - orcid.org/0000-0001-5889-4463 - Absence of the eyebrow. - HPO:probinson - - - - - Absent eyebrow + Missing eyebrows + ORCID:0000-0001-5889-4463 - + - Aplasia of eyebrows - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Loss of eyebrows + - orcid.org/0000-0001-5889-4463 - Failure of development of eyebrows + Absent eyebrow - Missing eyebrows - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Aplasia of eyebrows - - Loss of eyebrows - orcid.org/0000-0001-5889-4463 + Absence of the eyebrow. + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 + Failure of development of eyebrows - + @@ -78993,31 +80229,31 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Kinky hair texture - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Afro-textured hair - orcid.org/0000-0001-5889-4463 - Afro-textured hair + Wooly hair + MEDDRA:10048017 - - + - orcid.org/0000-0001-5889-4463 Nappy hair texture + ORCID:0000-0001-5889-4463 - Wooly hair - MEDDRA:10048017 + ORCID:0000-0001-5889-4463 + Kinky hair texture - + + @@ -79064,18 +80300,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - - Decreased sexual hair - - - - HPO:probinson Reduced number or density of pubic hair. + + Decreased sexual hair + + + + @@ -79122,37 +80358,37 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - White eyebrow + HPO:probinson + White color (lack of pigmentation) of the eyebrow. - - + - Blonde eyebrow - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pale eyebrow - + - orcid.org/0000-0001-5889-4463 - Grey eyebrow + Blonde eyebrow + ORCID:0000-0001-5889-4463 - + - Pale eyebrow - orcid.org/0000-0001-5889-4463 + White eyebrow - HPO:probinson - White color (lack of pigmentation) of the eyebrow. + ORCID:0000-0001-5889-4463 + Grey eyebrow - + + @@ -79201,28 +80437,28 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5889-4463 - Pale eyelashes + White eyelashes - White eyelashes + ORCID:0000-0001-5889-4463 + Blonde eyelashes - Blonde eyelashes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pale eyelashes - orcid.org/0000-0001-5889-4463 Grey eyelashes + ORCID:0000-0001-5889-4463 @@ -79397,6 +80633,12 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Frontal Cowlick + + Frontal upsweep of hair + + + + Upward and/or sideward growth of anterior hair. pmid:19125436 @@ -79410,34 +80652,28 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - HPO:skoehler - Upswept frontal hairline - - - - - - orcid.org/0000-0001-5889-4463 - Frontal Cowlick + Upswept frontal hair - Upswept frontal hair + HPO:skoehler + Upswept frontal hair pattern - + HPO:skoehler - Upswept frontal hair pattern + Upswept frontal hairline - Frontal upsweep of hair + Frontal Cowlick + ORCID:0000-0001-5889-4463 @@ -79491,18 +80727,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C0017181 human_phenotype - - Gastrointestinal bleeding - - - - HPO:probinson Hemorrhage affecting the gastrointestinal tract. + + Gastrointestinal bleeding + + + + @@ -79530,8 +80766,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - + Abnormally increased size of the liver. Enlarged liver HP:0001393 @@ -79542,32 +80778,32 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C0019209 human_phenotype - - Enlarged liver - - - - Abnormally increased size of the liver. HPO:probinson + + Enlarged liver + + + + - Abnormality of the intestine + Abnormal intestine morphology - + @@ -79592,18 +80828,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C0021831 human_phenotype - - An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. - HPO:probinson - - - Abnormality of the intestine + + An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. + HPO:probinson + + + @@ -79771,20 +81007,21 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The SNOMEDCT_US:51118003 UMLS:C0266174 human_phenotype + Fyler:4406 - - Duodenal atresia - MEDDRA:10013812 - - - A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. HPO:probinson + + Duodenal atresia + MEDDRA:10013812 + + + @@ -79803,18 +81040,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Vomitting blood - HPO:probinson - The vomiting of blood. - - - - - orcid.org/0000-0001-5208-3432 Vomitting blood + ORCID:0000-0001-5208-3432 + + HPO:probinson + The vomiting of blood. + + + @@ -79868,8 +81105,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Black feces + ORCID:0000-0001-6908-9849 Black feces - orcid.org/0000-0001-6908-9849 @@ -79915,18 +81152,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C4025715 human_phenotype - - Any abnormality of the large intestine. - HPO:probinson - - - Abnormality of the large intestine + + Any abnormality of the large intestine. + HPO:probinson + + + @@ -79957,12 +81194,6 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The human_phenotype - - Megacolon - MEDDRA:10027110 - - - An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. HPO:probinson @@ -79970,6 +81201,12 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The + + Megacolon + MEDDRA:10027110 + + + @@ -80140,19 +81377,13 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Cupid-bow shaped upper lip - - - - - - Prominent cupid-bow of upper lip + Exaggerated cupid's bow - Exaggerated cupid's bow + Cupid-bow shaped upper lip @@ -80169,6 +81400,12 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The + + Prominent cupid-bow of upper lip + + + + @@ -80224,14 +81461,14 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Partial clonic seizure - orcid.org/0000-0001-6908-9849 - Partial clonic seizure + ORCID:0000-0001-6908-9849 + Localized clonic seizure - orcid.org/0000-0001-6908-9849 - Localized clonic seizure + Partial clonic seizure + ORCID:0000-0001-6908-9849 @@ -80475,18 +81712,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The human_phenotype Oculosympathetic palsy - - Oculosympathetic palsy - http://orcid.org/0000-0001-5208-3432 - - - An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. HPO:probinson + + Oculosympathetic palsy + ORCID:0000-0001-5208-3432 + + + @@ -80635,7 +81872,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Generalized brain degeneration - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -80692,6 +81929,12 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Towhead (hair color) Fair hair color + + Blond hair + + + + A lesser degree of hair pigmentation than would otherwise be expected. DDD:cmoss @@ -80699,35 +81942,29 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Fair hair color - Towhead (hair color) - orcid.org/0000-0001-5889-4463 - - - - - - Blond hair + Light colored hair + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Sandy hair color + ORCID:0000-0001-5889-4463 + Straw colored hair - Straw colored hair - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Flaxen hair color @@ -80739,15 +81976,15 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Light colored hair - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Towhead (hair color) - orcid.org/0000-0001-5889-4463 - Flaxen hair color + Sandy hair color + ORCID:0000-0001-5889-4463 @@ -80811,12 +82048,6 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The White patch human_phenotype - - Patch of white hair - - - - Circumscribed depigmentation of the hair of the head or the eyelashes. HPO:probinson @@ -80829,6 +82060,12 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The + + Patch of white hair + + + + @@ -80848,12 +82085,6 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Male pattern baldness - - Frontal balding - - - - Absence of hair in the anterior midline and/or parietal areas. pmid:19125436 @@ -80861,8 +82092,14 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The + Frontal balding + + + + + + ORCID:0000-0001-5889-4463 Male pattern baldness - orcid.org/0000-0001-5889-4463 @@ -80906,43 +82143,43 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C1850535 human_phenotype HP:0200115 - Baldness Missing scalp hair + Baldness Pathologic hair loss from scalp Scalp hair loss Absence of scalp hair - orcid.org/0000-0001-5889-4463 - Baldness + ORCID:0000-0001-5889-4463 + Missing scalp hair - Absence of scalp hair - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Baldness - orcid.org/0000-0001-5889-4463 - Missing scalp hair + ORCID:0000-0001-5889-4463 + Scalp hair loss - + - orcid.org/0000-0001-5889-4463 - Scalp hair loss + ORCID:0000-0001-5889-4463 + Absence of scalp hair - + Pathologic hair loss from scalp - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -81004,28 +82241,28 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Red head (hair color) - Ginger hair color - orcid.org/0000-0001-5889-4463 + Red hair - + - orcid.org/0000-0001-5889-4463 Red hair color + ORCID:0000-0001-5889-4463 - Red head (hair color) - orcid.org/0000-0001-5889-4463 + Ginger hair color + ORCID:0000-0001-5889-4463 - + - Red hair + Red head (hair color) + ORCID:0000-0001-5889-4463 @@ -81095,24 +82332,25 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Reduced tensile strength of hair - orcid.org/0000-0001-5889-4463 - Reduced tensile strength of hair + ORCID:0000-0001-5889-4463 + Easily breakable hair - orcid.org/0000-0001-5889-4463 - Fragile hair + ORCID:0000-0001-5889-4463 + Reduced tensile strength of hair - Brittle hair + ORCID:0000-0001-5889-4463 + Fractured hair - + DDD:cmoss @@ -81121,15 +82359,14 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5889-4463 - Fractured hair + Brittle hair - + - orcid.org/0000-0001-5889-4463 - Easily breakable hair + ORCID:0000-0001-5889-4463 + Fragile hair @@ -81172,15 +82409,15 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Inability to speak - Muteness - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Inability to speak - Inability to speak - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Muteness @@ -81299,21 +82536,21 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The human_phenotype - Drooling + Dribbling - Dribbling + HPO:sdoelken + Sialorrhea - - HPO:sdoelken - Sialorrhea + Drooling + @@ -81388,19 +82625,19 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Limb incoordination + Incoordination - Incoordination + Incoordination of limb movements - Incoordination of limb movements + Limb incoordination @@ -81517,13 +82754,13 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Headaches + Headache - Headache + Headaches @@ -81546,8 +82783,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Unsteady walk - orcid.org/0000-0001-5208-3432 Unsteady walk + ORCID:0000-0001-5208-3432 @@ -81588,10 +82825,10 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Dizzy spell - Dizzy spell + An abnormal sensation of spinning while the body is actually stationary. + HPO:probinson - - + Dizziness @@ -81600,10 +82837,10 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - An abnormal sensation of spinning while the body is actually stationary. - HPO:probinson + Dizzy spell - + + @@ -81625,12 +82862,6 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Rest tremor Parkinsonian tremor - - Resting tremor - - - - A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. HPO:probinson @@ -81638,6 +82869,12 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The + + Resting tremor + + + + Tremor at rest @@ -81657,6 +82894,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The SNOMEDCT_US:89369001 UMLS:C0002902 human_phenotype + Fyler:4332 @@ -81674,18 +82912,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The human_phenotype Hydrancephaly - - orcid.org/0000-0001-5208-3432 - Hydrancephaly - - - A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. HPO:probinson + + ORCID:0000-0001-5208-3432 + Hydrancephaly + + + @@ -81711,8 +82949,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-5208-3432 Mini stroke + ORCID:0000-0001-5208-3432 @@ -81736,23 +82974,23 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Sleepy - Excessive daytime sleepiness. - HPO:probinson + Drowsiness - + + + ORCID:0000-0001-5208-3432 Sleepy - orcid.org/0000-0001-5208-3432 - Drowsiness + Excessive daytime sleepiness. + HPO:probinson - - + @@ -81787,7 +83025,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. - HPO:probinson + HPO:probinson Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. @@ -81846,8 +83084,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Progressive degeneration of movement - http://orcid.org/0000-0001-5208-3432 Progressive degeneration of movement + ORCID:0000-0001-5208-3432 @@ -82017,7 +83255,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Caudate degeneration - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -82378,13 +83616,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Memory problems - An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. - HPO:probinson - - - - - Memory impairment + Forgetfulness @@ -82396,19 +83628,25 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Forgetfulness + An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. + HPO:probinson + + + + + Poor memory - Memory loss + Memory impairment - Poor memory + Memory loss @@ -82433,6 +83671,12 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C0311394 human_phenotype + + HPO:probinson + Reduced ability to walk (ambulate). + + + Difficulty walking @@ -82445,12 +83689,6 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - - HPO:probinson - Reduced ability to walk (ambulate). - - - @@ -82467,18 +83705,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Writer's cramp human_phenotype - - A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. - HPO:probinson - - - Writer's cramp + + A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. + HPO:probinson + + + @@ -82552,20 +83790,14 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Difficulty sleeping - orcid.org/0000-0001-5208-3432 - Difficulty sleeping + Trouble sleeping - An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. - HPO:curators - - - - - Trouble sleeping + Difficulty sleeping + ORCID:0000-0001-5208-3432 @@ -82576,6 +83808,12 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The + + An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. + HPO:curators + + + @@ -82612,8 +83850,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Shuffled walk - orcid.org/0000-0001-5208-3432 Shuffled walk + ORCID:0000-0001-5208-3432 @@ -82655,7 +83893,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Abnormal shape of brainstem - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -82706,24 +83944,24 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Underdeveloped brainstem - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped brainstem - - Small brainstem - - - - HPO:probinson Underdevelopment of the brainstem. + + Small brainstem + + + + @@ -82865,7 +84103,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Fever induced seizures - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -82937,26 +84175,26 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Decreased muscle movement - Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. - HPO:probinson + Decreased spontaneous movements - + + - Decreased spontaneous movement + ORCID:0000-0001-6908-9849 + Decreased muscle movement - Decreased spontaneous movements + Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. + HPO:probinson - - + - orcid.org/0000-0001-6908-9849 - Decreased muscle movement + Decreased spontaneous movement @@ -82999,10 +84237,10 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The human_phenotype - DDD:hvfirth - Loss of developmental skills, as manifested by loss of developmental milestones. + Mental deterioration in childhood - + + Loss of developmental milestones @@ -83011,10 +84249,10 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Mental deterioration in childhood + DDD:hvfirth + Loss of developmental skills, as manifested by loss of developmental milestones. - - + @@ -83064,19 +84302,19 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The tremors in hands - tremors in hands + Tremor of hands - Tremor of hands + Hand tremor - Hand tremor + tremors in hands @@ -83115,9 +84353,9 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - orcid.org/0000-0001-6908-9849 - Muscle twitch https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm + ORCID:0000-0001-6908-9849 + Muscle twitch @@ -83142,13 +84380,13 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. - Losing words + Difficulty finding words - Difficulty finding words + Losing words @@ -83176,7 +84414,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Brain inflammation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -83373,7 +84611,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Overactive lower leg reflex - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -83395,8 +84633,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). - HPO:probinson A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). + HPO:probinson @@ -83458,23 +84696,23 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. + PMID:23907585 No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. PMID:22715346 - PMID:23907585 - Strokelike episodes + Stroke-like episodes + - Stroke-like episodes + Strokelike episodes - @@ -83573,18 +84811,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Uncoordinated limb movement - A type of dysmetria involving the limbs. - HPO:probinson - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Uncoordinated limb movement + + A type of dysmetria involving the limbs. + HPO:probinson + + + @@ -83600,6 +84838,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The SNOMEDCT_US:234142008 UMLS:C0917804 human_phenotype + Fyler:2201 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. @@ -83686,12 +84925,13 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The SNOMEDCT_US:67531005 UMLS:C0080178 human_phenotype + Fyler:4157 Split spine - Split spine http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Split spine @@ -83725,9 +84965,9 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - Degeneration of white matter of brain https://en.wikipedia.org/wiki/leukodystrophy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Degeneration of white matter of brain @@ -83747,9 +84987,9 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. - HPO:probinson + HPO:probinson Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. - PMID:12423490 + PMID:12423490 @@ -83790,14 +85030,14 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Abnormal shape of midbrain - orcid.org/0000-0001-5208-3432 - Abnormal shape of midbrain + Abnormality of the midbrain - Abnormality of the midbrain + Abnormal shape of midbrain + ORCID:0000-0001-5208-3432 @@ -83846,18 +85086,18 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C1836038 human_phenotype - - Poor head control - - - - Difficulty to maintain correct position of the head while standing or sitting. HPO:probinson + + Poor head control + + + + @@ -83888,9 +85128,9 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Loss of articulate speech - orcid.org/0000-0001-5208-3432 http://dictionary.reference.com/browse/anarthria Loss of articulate speech + ORCID:0000-0001-5208-3432 @@ -83919,9 +85159,16 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The UMLS:C0917814 human_phenotype Broca's aphasia - Expressive aphasia Loss of expressive speech + Expressive aphasia + + Broca's aphasia + https://en.wikipedia.org/wiki/aphasia + ORCID:0000-0001-5208-3432 + + + HPO:probinson Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. @@ -83929,23 +85176,16 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Loss of expressive speech - https://en.wikipedia.org/wiki/aphasia - orcid.org/0000-0001-5208-3432 Expressive aphasia - - - - https://en.wikipedia.org/wiki/aphasia - Broca's aphasia - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -84052,8 +85292,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Difficulty making arithmetical calculations + ORCID:0000-0001-5208-3432 Difficulty making arithmetical calculations - orcid.org/0000-0001-5208-3432 @@ -84137,7 +85377,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Paralysis of all four limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -84196,7 +85436,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Increase in astrocyte number - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -84221,7 +85461,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Progressive brain disease - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Progressive brain disease @@ -84263,7 +85503,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Abnormal shape of motor neuron - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -84463,19 +85703,19 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - - http://orcid.org/0000-0001-5208-3432 - Weakness of outermost muscles - - - - HPO:probinson Reduced strength of the musculature of the distal extremities. + + ORCID:0000-0001-5208-3432 + Weakness of outermost muscles + + + + @@ -84554,9 +85794,9 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The - http://orcid.org/0000-0001-5208-3432 - Rigid dysarthria http://medical-dictionary.thefreedictionary.com/spastic+dysarthria + Rigid dysarthria + ORCID:0000-0001-5208-3432 @@ -84577,17 +85817,17 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Problems speaking - Problems speaking - http://orcid.org/0000-0001-5208-3432 + Poor speech - + - Poor speech + ORCID:0000-0001-5208-3432 + Problems speaking - + Difficulty speaking @@ -84668,19 +85908,19 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The human_phenotype Communication delay - - http://orcid.org/0000-0001-5208-3432 - Communication delay - - - - A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. HPO:probinson + + Communication delay + ORCID:0000-0001-5208-3432 + + + + @@ -84699,19 +85939,20 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Spina bifida cystica UMLS:C0025312 human_phenotype + Fyler:4309 - - HPO:probinson - Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. - - - HPO:sdoelken Spina bifida cystica + + HPO:probinson + Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. + + + @@ -84727,7 +85968,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. - PMID:12700289 + PMID:12700289 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. @@ -84872,8 +86113,8 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The + ORCID:0000-0001-5208-3432 Muscle spasms - orcid.org/0000-0001-5208-3432 @@ -84899,17 +86140,17 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). - Acute blood cancer - orcid.org/0000-0001-5208-3432 + NCIT:C9300 + A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). - - + - A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). - NCIT:C9300 + Acute blood cancer + ORCID:0000-0001-5208-3432 - + + @@ -85004,7 +86245,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Increased stiffness of facial muscles - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased stiffness of facial muscles @@ -85012,7 +86253,7 @@ any may comprise pain, weakness, sensory loss, incontinence, and impotence. The Increased tone of facial muscles - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -85178,40 +86419,40 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h human_phenotype - Decreased vibratory sense + Impaired vibratory sensation - Impaired vibratory sensation + Diminished vibratory sense - Decreased vibration sense + Impaired vibratory sense - Impaired vibratory sense + Decreased vibratory sense - A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. - HPO:probinson + Decreased vibration sense - + + - Diminished vibratory sense + A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. + HPO:probinson - - + @@ -85269,18 +86510,18 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h human_phenotype Leukoaraiosis - - An abnormality of the cerebral white matter. - HPO:probinson - - - Leukoaraiosis pmid:3800716 + + An abnormality of the cerebral white matter. + HPO:probinson + + + Cortical white matter abnormalities seen on MRI HPO:skoehler @@ -85556,6 +86797,12 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h UMLS:C1863051 human_phenotype + + Late-onset form of familial Alzheimer disease + + + + Alzheimer disease @@ -85568,12 +86815,6 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h - - Late-onset form of familial Alzheimer disease - - - - @@ -85654,14 +86895,14 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h Waddling walk - Waddling walk - orcid.org/0000-0001-5208-3432 + 'Waddling' gait - 'Waddling' gait + Waddling walk + ORCID:0000-0001-5208-3432 @@ -86125,18 +87366,18 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h UMLS:C0560046 human_phenotype - - Inability to walk - - - - HPO:probinson Incapability to ambulate. + + Inability to walk + + + + @@ -86383,16 +87624,23 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h - High, rounded eyebrows + Broad, arched eyebrows - Broad, arched eyebrows + HPO:skoehler + High arched eyebrows - + + + + Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. + pmid:19125427 + + Thick, flared eyebrows @@ -86401,10 +87649,10 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h - Bowed and upward slanting eyebrows + Arched eyebrows - + Highly arched eyebrow @@ -86413,26 +87661,19 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h - Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. - pmid:19125427 - - - - - HPO:skoehler - High arched eyebrows + High-arched eyebrows - + - High-arched eyebrows + Bowed and upward slanting eyebrows - + - Arched eyebrows + High, rounded eyebrows @@ -86577,32 +87818,33 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h accessory mamillas Supernumerary nipples accessory mamilla + Fyler:4234 Accessory nipples Increased nipple number - Accessory nipples + HPO:probinson + Presence of more than two nipples. - - + - Increased nipple number - orcid.org/0000-0001-5208-3432 + Accessory nipple + - HPO:probinson - Presence of more than two nipples. + Accessory nipples - + + - Accessory nipple + ORCID:0000-0001-5208-3432 + Increased nipple number - @@ -86690,18 +87932,18 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h human_phenotype - - Low-set nipples - - - - HPO:probinson Placement of the nipples at a lower than normal location. + + Low-set nipples + + + + @@ -86776,6 +88018,12 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h human_phenotype + + Gut malrotation + HPO:skoehler + + + Intestinal malrotation MEDDRA:10064024 @@ -86789,12 +88037,6 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h - - Gut malrotation - HPO:skoehler - - - @@ -86867,18 +88109,18 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h human_phenotype - - A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. - HPO:probinson - - - Oesophageal achalasia MEDDRA:10030136 + + A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. + HPO:probinson + + + @@ -86896,11 +88138,10 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h human_phenotype - Frequent vomiting - HPO:skoehler + Episodic vomiting - + HPO:curators @@ -86909,10 +88150,11 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h - Episodic vomiting + Frequent vomiting + HPO:skoehler - + @@ -87026,20 +88268,21 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h SNOMEDCT_US:95435007 UMLS:C0040588 human_phenotype + Fyler:4202 - - An abnormal connection (fistula) between the esophagus and the trachea. - HPO:probinson - - - Tracheo-oesophageal fistula MEDDRA:10044310 + + An abnormal connection (fistula) between the esophagus and the trachea. + HPO:probinson + + + @@ -87151,18 +88394,18 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h - Decreased strength of the Muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Delayed gastric emptying + ORCID:0000-0001-5208-3432 + + Decreased strength of the Muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. + HPO:probinson + + + @@ -87346,18 +88589,18 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h UMLS:C0267373 human_phenotype - - Bleeding from the intestines. - DDD:akelly - - - Intestinal bleeding + + Bleeding from the intestines. + DDD:akelly + + + @@ -87632,12 +88875,6 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h Voracious appetite human_phenotype - - Voracious appetite - - - - Increased appetite @@ -87650,6 +88887,12 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h + + Voracious appetite + + + + @@ -87777,19 +89020,19 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h human_phenotype Underdeveloped pancreas - - HPO:probinson - Hypoplasia of the pancreas. - - - Underdeveloped pancreas - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:probinson + Hypoplasia of the pancreas. + + + @@ -87808,9 +89051,15 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h Gastrointestinal atony + + Ileus + MEDDRA:10021328 + + + Gastrointestinal atony - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -87820,12 +89069,6 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h - - Ileus - MEDDRA:10021328 - - - @@ -87863,8 +89106,8 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h Abnormality of blood vessels + ORCID:0000-0001-5208-3432 Abnormality of blood vessels - orcid.org/0000-0001-5208-3432 @@ -88043,6 +89286,7 @@ of the neck and head so that the head presents slight movements, sometimes like Telangiectasia affecting thegastrointestinal tract. UMLS:C1619711 human_phenotype + Small, enlarged blood vessels near skin HPO:probinson @@ -88050,6 +89294,13 @@ of the neck and head so that the head presents slight movements, sometimes like + + ORCID:0000-0002-6548-5200 + Small, enlarged blood vessels near skin + + + + @@ -88081,7 +89332,7 @@ of the neck and head so that the head presents slight movements, sometimes like - + 2008-02-20T11:32:00Z HP:0002605 SNOMEDCT_US:87248009 @@ -88116,19 +89367,19 @@ of the neck and head so that the head presents slight movements, sometimes like human_phenotype Loss of bowel control - - Loss of bowel control - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Involuntary fecal soiling in adults and children who have usually already been toilet trained. + + ORCID:0000-0001-5208-3432 + Loss of bowel control + + + + @@ -88147,19 +89398,19 @@ of the neck and head so that the head presents slight movements, sometimes like Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. Celiac sprue - - HPO:probinson - pmid:23681421 - Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. - - - Celiac disease + + Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. + pmid:23681421 + HPO:probinson + + + @@ -88366,16 +89617,23 @@ of the neck and head so that the head presents slight movements, sometimes like human_phenotype Aneurysmal dilatation Aneurysm is considered a severe form of dilatation. + Fyler:2399 - Aneurysms - HPO:skoehler + ORCID:0000-0001-5208-3432 + Aneurysmal dilatation + + + + + Aneurysmal disease - + - Aneurysm + Aneurysms + HPO:skoehler @@ -88387,16 +89645,10 @@ of the neck and head so that the head presents slight movements, sometimes like - Aneurysmal disease + Aneurysm - - - - Aneurysmal dilatation - orcid.org/0000-0001-5208-3432 - - + @@ -88460,6 +89712,13 @@ of the neck and head so that the head presents slight movements, sometimes like Plaque build-up in arteries Atherosclerotic cardiovascular disease + + ORCID:0000-0001-5208-3432 + Atherosclerotic cardiovascular disease + http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel + + + A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. HPO:probinson @@ -88467,19 +89726,12 @@ of the neck and head so that the head presents slight movements, sometimes like - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Plaque build-up in arteries - - orcid.org/0000-0001-5208-3432 - Atherosclerotic cardiovascular disease - http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel - - - @@ -88489,6 +89741,7 @@ of the neck and head so that the head presents slight movements, sometimes like obsolete Dissecting aortic dilatation HP:0002622 true + HP:0002647 @@ -88530,6 +89783,7 @@ of the neck and head so that the head presents slight movements, sometimes like UMLS:C0265886 human_phenotype Overriding aortic valve + Fyler:1432 An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. @@ -88573,8 +89827,8 @@ of the neck and head so that the head presents slight movements, sometimes like Venous abnormality - orcid.org/0000-0001-5208-3432 Abnormal vein + ORCID:0000-0001-5208-3432 @@ -88604,18 +89858,18 @@ of the neck and head so that the head presents slight movements, sometimes like Blood clot in a deep vein - Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. - HPO:probinson - - - - - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Blood clot in a deep vein + + Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. + HPO:probinson + + + @@ -88773,7 +90027,7 @@ of the neck and head so that the head presents slight movements, sometimes like - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Angiitis @@ -88829,7 +90083,7 @@ of the neck and head so that the head presents slight movements, sometimes like Hardened artery wall - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Hardened artery wall @@ -88858,8 +90112,8 @@ of the neck and head so that the head presents slight movements, sometimes like Atheromatosis - PMID:7648691 In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. The nature and derivations of the lipid that constitutes the core are discussed in the section on the extracellular matrix at the end of this report. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. + PMID:7648691 @@ -88925,13 +90179,13 @@ of the neck and head so that the head presents slight movements, sometimes like Brain ischemia - orcid.org/0000-0001-5208-3432 Brain ischemia + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cerebrovascular ischemia @@ -89012,7 +90266,7 @@ of the neck and head so that the head presents slight movements, sometimes like Peripheral blood clot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -89047,6 +90301,12 @@ of the neck and head so that the head presents slight movements, sometimes like UMLS:C0852283 human_phenotype + + HPO:probinson + Respiratory difficulty as newborn. + + + Newborn respiratory distress @@ -89054,7 +90314,7 @@ of the neck and head so that the head presents slight movements, sometimes like - Infantile respiratory distress + Neonatal respiratory distress @@ -89066,17 +90326,11 @@ of the neck and head so that the head presents slight movements, sometimes like - Neonatal respiratory distress + Infantile respiratory distress - - HPO:probinson - Respiratory difficulty as newborn. - - - @@ -89113,7 +90367,7 @@ of the neck and head so that the head presents slight movements, sometimes like Abnormal shape of pelvic girdle bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal shape of pelvic girdle bone @@ -89146,22 +90400,22 @@ of the neck and head so that the head presents slight movements, sometimes like - orcid.org/0000-0001-5889-4463 - Intrasutural bones + ORCID:0000-0001-5889-4463 + Extra bones within cranial sutures + - Intra sutural bones - orcid.org/0000-0001-5889-4463 + Islands of bone within cranial sutures + ORCID:0000-0001-5889-4463 - Extra bones within cranial sutures - orcid.org/0000-0001-5889-4463 + Intrasutural bones + ORCID:0000-0001-5889-4463 - @@ -89171,8 +90425,8 @@ of the neck and head so that the head presents slight movements, sometimes like - Islands of bone within cranial sutures - orcid.org/0000-0001-5889-4463 + Intra sutural bones + ORCID:0000-0001-5889-4463 @@ -89239,10 +90493,16 @@ of the neck and head so that the head presents slight movements, sometimes like Abnormality of cranial bone morphology - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + Abnormality of skull bone morphology + + + DDD:awilkie HPO:probinson @@ -89251,37 +90511,31 @@ of the neck and head so that the head presents slight movements, sometimes like - Abnormality of the shape of skull bones - orcid.org/0000-0001-5889-4463 + Abnormality of the shape of cranium + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0002-9353-5498 Abnormally shaped skull + ORCID:0000-0002-9353-5498 - orcid.org/0000-0001-5889-4463 Abnormality of the shape of calvarium + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of skull bone morphology - - - - - Abnormality of the shape of cranium - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of the shape of skull bones - + @@ -89329,24 +90583,33 @@ of the neck and head so that the head presents slight movements, sometimes like human_phenotype Curved spine Curvature of spine + Abnormal curving of the spine + Fyler:4160 - HPO:probinson - The presence of an abnormal lateral curvature of the spine. + ORCID:0000-0002-6548-5200 + Abnormal curving of the spine - + + - Curved spine - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Curvature of spine - orcid.org/0000-0001-5208-3432 - Curvature of spine + HPO:probinson + The presence of an abnormal lateral curvature of the spine. + + + + + ORCID:0000-0001-5208-3432 + Curved spine @@ -89405,18 +90668,18 @@ of the neck and head so that the head presents slight movements, sometimes like Abnormal skeletal development - A general term describing features characterized by abnormal development of bones and connective tissues. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal skeletal development + + A general term describing features characterized by abnormal development of bones and connective tissues. + HPO:probinson + + + @@ -89533,7 +90796,7 @@ of the neck and head so that the head presents slight movements, sometimes like Abnormal development of end part of bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal development of end part of bone @@ -89599,19 +90862,13 @@ of the neck and head so that the head presents slight movements, sometimes like Frequent broken bones - Increased tendency to fractures - - - - - - Abnormal susceptibility to fractures + Increased susceptibility to fractures - Increased susceptibility to fractures + Increased bone fragility @@ -89629,13 +90886,19 @@ of the neck and head so that the head presents slight movements, sometimes like - Increased bone fragility + Bone fragility - Bone fragility + Increased tendency to fractures + + + + + + Abnormal susceptibility to fractures @@ -89655,18 +90918,18 @@ of the neck and head so that the head presents slight movements, sometimes like UMLS:C1837602 human_phenotype - - Painless fractures due to injury - - - - An increased tendency to fractures following trauma, with fractures occurring without pain. HPO:curators + + Painless fractures due to injury + + + + @@ -89718,7 +90981,7 @@ of the neck and head so that the head presents slight movements, sometimes like Delayed maturation of end part of long bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Delayed maturation of end part of long bone @@ -89776,18 +91039,18 @@ of the neck and head so that the head presents slight movements, sometimes like - - An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). - HPO:probinson - - - Cancer + + An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). + HPO:probinson + + + @@ -89871,16 +91134,16 @@ of the neck and head so that the head presents slight movements, sometimes like Chromaffin tumors - HPO:probinson - Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. + Chromaffin tumors + ORCID:0000-0001-5208-3432 - + - Chromaffin tumors - orcid.org/0000-0001-5208-3432 + HPO:probinson + Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. - + @@ -90175,36 +91438,36 @@ of the neck and head so that the head presents slight movements, sometimes like - Trilobar skull configuration when viewed from the front or behind. - pmid:19125436 + ORCID:0000-0001-5889-4463 + Trilobar skull shape - + - orcid.org/0000-0001-5889-4463 - Cloverleaf cranium shape + Trilobar cranium shape + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Cloverleaf skull shape - orcid.org/0000-0001-5889-4463 - Trilobar skull shape + ORCID:0000-0001-5889-4463 + Cloverleaf cranium shape + - orcid.org/0000-0001-5889-4463 - Trilobar cranium shape + Trilobar skull configuration when viewed from the front or behind. + pmid:19125436 - + @@ -90251,10 +91514,18 @@ of the neck and head so that the head presents slight movements, sometimes like - Stenosis of foramen magnum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Little foramen magnum - + + + + + ORCID:0000-0001-5889-4463 + Narrow foramen magnum + + + An abnormal narrowing of the foramen magnum. @@ -90263,24 +91534,16 @@ of the neck and head so that the head presents slight movements, sometimes like - orcid.org/0000-0001-5889-4463 - Hypoplasia of foramen magnum + ORCID:0000-0001-5889-4463 + Stenosis of foramen magnum - Narrow foramen magnum - orcid.org/0000-0001-5889-4463 - - - - - - orcid.org/0000-0001-5889-4463 - Little foramen magnum + Hypoplasia of foramen magnum + ORCID:0000-0001-5889-4463 - - + @@ -90324,45 +91587,45 @@ of the neck and head so that the head presents slight movements, sometimes like Unequal skull shape - orcid.org/0000-0001-5889-4463 - Uneven skull shape + ORCID:0000-0001-5889-4463 + Abnormality of skull shape - Asymmetry of skull - orcid.org/0000-0001-5889-4463 - - - - - + ORCID:0000-0001-5889-4463 Malformation of skull shape - orcid.org/0000-0001-5889-4463 - Skull asymmetry + ORCID:0000-0001-5889-4463 + Uneven skull shape - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Unequal skull shape - orcid.org/0000-0001-5889-4463 - Abnormality of skull shape + ORCID:0000-0001-5889-4463 + Asymmetry of skull - + + + + Skull asymmetry + + + @@ -90404,6 +91667,12 @@ of the neck and head so that the head presents slight movements, sometimes like Abnormality of the hypophysial fossa + + Abnormality of the hypophysial fossa + ORCID:0000-0001-5889-4463 + + + Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. HPO:probinson @@ -90411,32 +91680,26 @@ of the neck and head so that the head presents slight movements, sometimes like - orcid.org/0000-0001-5889-4463 - Abnormality of the hypophysial fossa + Abnormality of the pituitary fossa + ORCID:0000-0001-5889-4463 - - Anomaly of the sella turcica - orcid.org/0000-0001-5889-4463 - - - Anomaly of the pituitary fossa - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Anomaly of the hypophysial fossa - orcid.org/0000-0001-5889-4463 + Anomaly of the sella turcica + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Abnormality of the pituitary fossa + Anomaly of the hypophysial fossa + ORCID:0000-0001-5889-4463 @@ -90466,62 +91729,62 @@ of the neck and head so that the head presents slight movements, sometimes like - Omega shaped pituitary fossa - orcid.org/0000-0001-5889-4463 - - - - - J-shaped sella - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hour glass shaped pituitary fossa - A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. - HPO:pnrobinson + ORCID:0000-0001-5889-4463 + Omega shaped pituitary fossa - + + ORCID:0000-0001-5889-4463 J-shaped pituitary fossa - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Omega shaped hypophysial fossa - Omega shaped sella turcica - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hour glass shaped hypophysial fossa - orcid.org/0000-0001-5889-4463 - J-shaped hypophysial fossa + ORCID:0000-0001-5889-4463 + Hour glass shaped sella turcica - + - orcid.org/0000-0001-5889-4463 - Hour glass shaped sella turcica + A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. + HPO:pnrobinson - + - Hour glass shaped pituitary fossa - orcid.org/0000-0001-5889-4463 + J-shaped sella + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hour glass shaped hypophysial fossa + J-shaped hypophysial fossa + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 + Omega shaped sella turcica @@ -90566,50 +91829,50 @@ of the neck and head so that the head presents slight movements, sometimes like Deformity of pituitary fossa - Malformation of pituitary fossa - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormal shape of pituitary fossa - Malformation of hypophysial fossa - orcid.org/0000-0001-5889-4463 + Abnormal shape of sella turcica + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deformity of hypophysial fossa + Deformity of pituitary fossa + ORCID:0000-0001-5889-4463 - Abnormal shape of sella turcica - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of hypophysial fossa - Abnormal shape of pituitary fossa - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of hypophysial fossa - Malformation of sella turcica - orcid.org/0000-0001-5889-4463 + Abnormal shape of hypophysial fossa + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormal shape of hypophysial fossa + Malformation of pituitary fossa + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deformity of pituitary fossa + ORCID:0000-0001-5889-4463 + Malformation of sella turcica @@ -90654,48 +91917,48 @@ of the neck and head so that the head presents slight movements, sometimes like Broad cranium - orcid.org/0000-0001-5889-4463 - Broad cranium + Wide skull + ORCID:0000-0001-5889-4463 + - Increased width of skull - orcid.org/0000-0001-5889-4463 + Broad skull - Increased width of cranium - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Wide cranium - Wide cranium - orcid.org/0000-0001-5889-4463 + Increased width of cranium + ORCID:0000-0001-5889-4463 - Wide skull - orcid.org/0000-0001-5889-4463 + HPO:probinson + Increased width of the skull. - - + - Broad skull + Broad cranium + ORCID:0000-0001-5889-4463 - - HPO:probinson - Increased width of the skull. + Increased width of skull + ORCID:0000-0001-5889-4463 - + + @@ -90738,41 +92001,41 @@ of the neck and head so that the head presents slight movements, sometimes like Abnormality of cranium - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of cranium - Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. - HPO:probinson + ORCID:0000-0001-5208-3432 + Abnormality of the skullcap - + + - Abnormality of the skull cap - orcid.org/0000-0001-5889-4463 + Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. + HPO:probinson - - + - Abnormality of cranial vault - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of calvarium - orcid.org/0000-0001-5208-3432 - Abnormality of the skullcap + ORCID:0000-0001-5889-4463 + Abnormality of the skull cap - orcid.org/0000-0001-5889-4463 - Abnormality of calvarium + ORCID:0000-0001-5889-4463 + Abnormality of cranial vault @@ -90827,47 +92090,47 @@ of the neck and head so that the head presents slight movements, sometimes like Increased thickness of cranium - orcid.org/0000-0001-5889-4463 - Increased thickness of cranial vault + HPO:curators + The presence of an abnormally thick calvaria. - + - orcid.org/0000-0001-5889-4463 - Thickened skull cap + ORCID:0000-0001-5889-4463 + Increased thickness of calvarium - - orcid.org/0000-0001-5889-4463 - Increased thickness of cranium + Thickened skull cap + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Increased thickness of calvarium + ORCID:0000-0001-5889-4463 + Increased thickness of cranial vault - orcid.org/0000-0001-5889-4463 - Increased thickness of calvaria + ORCID:0000-0001-5889-4463 + Increased thickness of skull cap + - HPO:curators - The presence of an abnormally thick calvaria. + ORCID:0000-0001-5889-4463 + Increased thickness of cranium - + - Increased thickness of skull cap - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased thickness of calvaria - @@ -90926,23 +92189,23 @@ of the neck and head so that the head presents slight movements, sometimes like Abnormality of sinus frontalis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. - orcid.org/0000-0001-5889-4463 - - - - + ORCID:0000-0001-5889-4463 Abnormality of the forehead sinus - orcid.org/0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. + + + @@ -90996,29 +92259,29 @@ of the neck and head so that the head presents slight movements, sometimes like - Aplasia of frontal sinus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing frontal sinus - + - Aplasia sinus frontalis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Aplasia of frontal sinus - - orcid.org/0000-0001-5889-4463 - Missing frontal sinus - - - Aplasia of frontal sinus. HPO:probinson + + ORCID:0000-0001-5889-4463 + Aplasia sinus frontalis + + + @@ -91059,8 +92322,8 @@ of the neck and head so that the head presents slight movements, sometimes like Missing paranasal sinuses + ORCID:0000-0001-5889-4463 Absence of paranasal sinuses - orcid.org/0000-0001-5889-4463 @@ -91071,25 +92334,25 @@ of the neck and head so that the head presents slight movements, sometimes like + ORCID:0000-0001-5889-4463 Missing sinuses - orcid.org/0000-0001-5889-4463 - Aplasia of paranasal sinuses - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 Missing paranasal sinuses + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + Aplasia of paranasal sinuses + + + @@ -91136,31 +92399,37 @@ of the neck and head so that the head presents slight movements, sometimes like - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Large hypophysial fossa - orcid.org/0000-0001-5889-4463 - Hyperplasia of hypophysial fossa + Hyperplasia of pituitary fossa + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Big sella turcica + ORCID:0000-0001-5889-4463 + Hyperplasia of hypophysial fossa - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hyperplasia of sella turcica + + Large pituitary fossa + ORCID:0000-0001-5889-4463 + + + + An abnormal enlargement of the sella turcica. HPO:probinson @@ -91168,17 +92437,11 @@ of the neck and head so that the head presents slight movements, sometimes like - Large pituitary fossa - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Big sella turcica - - - - orcid.org/0000-0001-5889-4463 - Hyperplasia of pituitary fossa - - + @@ -91206,18 +92469,6 @@ basilar kyphosis: < 125 degrees Flattening of the skull base - - orcid.org/0000-0001-5889-4463 - Increased basal angle of skull base - - - - - A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. - HPO:probinson - - - Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: @@ -91226,20 +92477,32 @@ line joining the anterior border of the foramen magnum with the centre of the pi normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Obtuse basal angle of skull base + ORCID:0000-0001-5889-4463 + + + + + A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 Flattening of the skull base - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Obtuse basal angle of skull base + ORCID:0000-0001-5889-4463 + Increased basal angle of skull base @@ -91301,77 +92564,77 @@ basilar kyphosis: < 125 degrees Decreased size of facial skeleton - orcid.org/0000-0001-5889-4463 - Underdevelopment of facial bones + ORCID:0000-0001-5889-4463 + Flattening of facial bones - + - Decreased size of facial bones - orcid.org/0000-0001-5889-4463 + Small facial skeleton + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Underdevelopment of facial skeleton + ORCID:0000-0001-5889-4463 + Hypotrophic facial bones - - + - orcid.org/0000-0001-5889-4463 Hypotrophic facial skeleton + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Flattening of facial skeleton + ORCID:0000-0001-5889-4463 + Underdevelopment of facial skeleton - + - orcid.org/0000-0001-5889-4463 - Decreased size of facial skeleton + Small facial bones + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Hypotrophic facial bones + ORCID:0000-0001-5889-4463 + Decreased size of facial bones - + + - Hypoplasia of facial skeleton - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased size of facial skeleton - + + - Small facial bones - orcid.org/0000-0001-5889-4463 + Underdevelopment of facial bones + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Flattening of facial bones + ORCID:0000-0001-5889-4463 + Flattening of facial skeleton - Small facial skeleton - orcid.org/0000-0001-5889-4463 + Hypoplasia of facial skeleton + ORCID:0000-0001-5889-4463 - @@ -91410,8 +92673,14 @@ basilar kyphosis: < 125 degrees Abnormality of cranial base - orcid.org/0000-0001-5889-4463 + Abnormality of the skull base + + + + + Abnormality of cranial base + ORCID:0000-0001-5889-4463 @@ -91421,12 +92690,6 @@ basilar kyphosis: < 125 degrees - - Abnormality of the skull base - - - - @@ -91478,49 +92741,49 @@ basilar kyphosis: < 125 degrees Dense bone of skull base - orcid.org/0000-0001-5889-4463 - HyperCalcification of skull base + HyperMineralization of skull base + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - HyperOssification of skull base + ORCID:0000-0001-5889-4463 + Sclerosis of cranial base - HyperMineralization of skull base - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Dense bone of skull base - + - orcid.org/0000-0001-5889-4463 - Dense bone of skull base + HyperOssification of skull base + ORCID:0000-0001-5889-4463 - - HPO:probinson - Increased bone density of the skull base without significant changes in bony contour. + ORCID:0000-0001-5889-4463 + HyperOstosis of skull base - + - Sclerosis of cranial base - orcid.org/0000-0001-5889-4463 + HPO:probinson + Increased bone density of the skull base without significant changes in bony contour. - + - HyperOstosis of skull base - orcid.org/0000-0001-5889-4463 + HyperCalcification of skull base + ORCID:0000-0001-5889-4463 - + + @@ -91570,8 +92833,8 @@ basilar kyphosis: < 125 degrees Abnormality of the parietal bone of skull + ORCID:0000-0001-5889-4463 Abnormality of the parietal bone of skull - orcid.org/0000-0001-5889-4463 @@ -91602,24 +92865,17 @@ basilar kyphosis: < 125 degrees Holes in parietal bones - orcid.org/0000-0001-5889-4463 - Persistent foramina of the parietal bones - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Holes in parietal bones - Openings in parietal bones - orcid.org/0000-0001-5889-4463 + Persistent foramina of the parietal bones + ORCID:0000-0001-5889-4463 - - + HPO:probinson @@ -91627,6 +92883,13 @@ basilar kyphosis: < 125 degrees + + Openings in parietal bones + ORCID:0000-0001-5889-4463 + + + + @@ -91713,45 +92976,45 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5889-4463 - Dilation of foramen magnum + An abnormal increase in the size of the foramen magnum. + HPO:curators + + + + + Wide foramen magnum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased diameter of foramen magnum + ORCID:0000-0001-5889-4463 + Increased circumference of foramen magnum - Wide foramen magnum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Dilation of foramen magnum - orcid.org/0000-0001-5889-4463 Big foramen magnum + ORCID:0000-0001-5889-4463 - An abnormal increase in the size of the foramen magnum. - HPO:curators - - - - - Increased circumference of foramen magnum - orcid.org/0000-0001-5889-4463 + Increased diameter of foramen magnum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Hyperplasia of foramen magnum + ORCID:0000-0001-5889-4463 @@ -91817,77 +93080,77 @@ basilar kyphosis: < 125 degrees Abnormality of bone calcification of calvarium - orcid.org/0000-0001-5889-4463 - Abnormality of ossification of cranium + ORCID:0000-0001-5889-4463 + Abnormality of bone calcification of calvarium - + - orcid.org/0000-0001-5889-4463 - Abnormality of bone formation of calvarium + Abnormality of bone calcification of skull + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of ossification of calvarium + Abnormality of bone formation of calvarium + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Abnormality of bone mineralization of cranium + Abnormality of skull bone formation + ORCID:0000-0001-5889-4463 - + + + ORCID:0000-0001-5889-4463 Abnormality of bone calcification of cranium - orcid.org/0000-0001-5889-4463 - Abnormality of bone mineralization of skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of bone mineralization of cranium - Abnormality of skull bone formation - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of ossification of calvarium - - + - orcid.org/0000-0001-5889-4463 - Abnormality of bone calcification of calvarium + ORCID:0000-0001-5889-4463 + Abnormality of bone mineralization of calvarium - orcid.org/0000-0001-5889-4463 - Abnormality of bone mineralization of calvarium + An abnormality of the process of ossification of the skull. + HPO:probinson - + - orcid.org/0000-0001-5889-4463 - Abnormality of bone formation of cranium + ORCID:0000-0001-5889-4463 + Abnormality of ossification of cranium - - + - An abnormality of the process of ossification of the skull. - HPO:probinson + Abnormality of bone mineralization of skull + ORCID:0000-0001-5889-4463 - + - Abnormality of bone calcification of skull - orcid.org/0000-0001-5889-4463 + Abnormality of bone formation of cranium + ORCID:0000-0001-5889-4463 + @@ -91917,42 +93180,42 @@ basilar kyphosis: < 125 degrees High narrow palate - HPO:curators - The presence of a high and narrow palate. + ORCID:0000-0001-5889-4463 + High vaulted palate - + + ORCID:0000-0001-5208-3432 Narrow, high-arched roof of mouth - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - Gothic palate + High, narrow palate + - orcid.org/0000-0001-5208-3432 - Narrow, highly arched roof of mouth + Gothic palate + ORCID:0000-0001-5889-4463 - - High, narrow palate + Narrow, highly arched roof of mouth + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - High vaulted palate + HPO:curators + The presence of a high and narrow palate. - + @@ -92008,40 +93271,40 @@ basilar kyphosis: < 125 degrees Telangiectasia of the roof of the mouth - orcid.org/0000-0001-5889-4463 - Palatal angioectasia + HPO:curators + The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. - + + ORCID:0000-0001-5889-4463 Palatal spider veins - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Palatal telangiectasia + Palatal angioectasia + ORCID:0000-0001-5889-4463 - HPO:curators - The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. - - - - - orcid.org/0000-0001-5889-4463 Spider veins of the roof of the mouth + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Palatal telangiectasia + + + + + ORCID:0000-0001-5889-4463 Telangiectasia of the roof of the mouth - orcid.org/0000-0001-5889-4463 @@ -92063,16 +93326,9 @@ basilar kyphosis: < 125 degrees Prominent medial palatal suture - Prominent medial palatal suture - orcid.org/0000-0001-5889-4463 - - - - - Prominent central ridge on roof of the mouth - orcid.org/0000-0001-5889-4463 + Prominent central palatal ridge + ORCID:0000-0001-5889-4463 - @@ -92082,8 +93338,15 @@ basilar kyphosis: < 125 degrees - Prominent central palatal ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Prominent central ridge on roof of the mouth + + + + + + ORCID:0000-0001-5889-4463 + Prominent medial palatal suture @@ -92107,30 +93370,30 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5889-4463 - Commissural labial pits + A depression located at an oral commissure. + HPO:sdoelken + pmid:19125428 - + Pits at the corners of the lips - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - A depression located at an oral commissure. - HPO:sdoelken - pmid:19125428 + Lip pits at corners of the mouth + ORCID:0000-0001-5889-4463 - + + - Lip pits at corners of the mouth - orcid.org/0000-0001-5889-4463 + Commissural labial pits + ORCID:0000-0001-5889-4463 - @@ -92157,65 +93420,65 @@ basilar kyphosis: < 125 degrees Deep central lingual groove - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Deep central tongue furrow - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deep median lingual groove - orcid.org/0000-0001-5889-4463 - Deep median tongue furrow + Deep central lingual furrow + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Exaggerated median lingual furrow + ORCID:0000-0001-5889-4463 + Deep median tongue furrow - Deep median tongue groove - orcid.org/0000-0001-5889-4463 + Deep central tongue groove + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Deep central tongue groove + Deep central tongue furrow + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Deep median lingual groove + Exaggerated median lingual furrow + ORCID:0000-0001-5889-4463 - HPO:probinson - Increased depth of the median tongue furrow. + Deep median lingual furrow + ORCID:0000-0001-5889-4463 - + - Deep central lingual furrow - orcid.org/0000-0001-5889-4463 + Deep median tongue groove + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deep median lingual furrow + HPO:probinson + Increased depth of the median tongue furrow. - + @@ -92238,13 +93501,19 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5889-4463 + Downturned corners of mouth + + + + + + ORCID:0000-0001-5889-4463 Downturned oral commisures - Downturned corners of mouth + Downturned corners of the mouth @@ -92262,12 +93531,6 @@ basilar kyphosis: < 125 degrees - - Downturned corners of the mouth - - - - @@ -92307,6 +93570,12 @@ basilar kyphosis: < 125 degrees UMLS:C4021753 human_phenotype + + Abnormality of the immune system + + + + Immunological abnormality @@ -92319,12 +93588,6 @@ basilar kyphosis: < 125 degrees - - Abnormality of the immune system - - - - @@ -92462,43 +93725,43 @@ basilar kyphosis: < 125 degrees human_phenotype - HPO:probinson - Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. + Bacterial infections, recurrent - + + - Prone to bacterial infection + HPO:probinson + Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. - - + - Bacterial infections, recurrent + Increased susceptibility to bacterial infections - Frequent bacterial infections + Recurrent bacterial infections - Recurrent bacterial infections + Prone to bacterial infection - + - Recurrent major bacterial infections + Frequent bacterial infections - Increased susceptibility to bacterial infections + Recurrent major bacterial infections @@ -92527,16 +93790,17 @@ basilar kyphosis: < 125 degrees infections, recurrent - Increased frequency of infection + Frequent, severe infections - Frequent infections + HPO:probinson + Increased susceptibility to infections. + HPO:skoehler - - + HPO:skoehler @@ -92546,26 +93810,25 @@ basilar kyphosis: < 125 degrees - Susceptibility to infection + Recurrent infections - HPO:probinson - Increased susceptibility to infections. - HPO:skoehler + Frequent infections - + + - Frequent, severe infections + Increased frequency of infection - Recurrent infections + Susceptibility to infection @@ -92676,17 +93939,17 @@ basilar kyphosis: < 125 degrees Decreased immune function - orcid.org/0000-0001-5208-3432 - Decreased immune function + PMID:20042227 + Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. - - + - Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. - PMID:20042227 + ORCID:0000-0001-5208-3432 + Decreased immune function - + + @@ -92721,8 +93984,8 @@ basilar kyphosis: < 125 degrees An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. - An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. GO:0045728 + An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. @@ -92788,18 +94051,18 @@ basilar kyphosis: < 125 degrees UMLS:C2673462 human_phenotype - - HPO:skoehler - Staphylococcus aureus infections, recurrent - - - HPO:probinson Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. + + HPO:skoehler + Staphylococcus aureus infections, recurrent + + + @@ -92844,7 +94107,7 @@ basilar kyphosis: < 125 degrees HPO:probinson Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. - PMID: 23281438 + PMID:23281438 @@ -92992,10 +94255,10 @@ basilar kyphosis: < 125 degrees human_phenotype - Abnormal lymph node histology + A lymph node abnormality. + HPO:probinson - - + Abnormality of the lymph nodes @@ -93004,10 +94267,10 @@ basilar kyphosis: < 125 degrees - A lymph node abnormality. - HPO:probinson + Abnormal lymph node histology - + + @@ -93046,13 +94309,13 @@ basilar kyphosis: < 125 degrees Increased thickness of skull base - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased thickness of bone of skull base @@ -93105,34 +94368,34 @@ basilar kyphosis: < 125 degrees Decreased pneumatization of frontal sinus - Decreased volume of frontal sinuses - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 - Decreased pneumatization of frontal sinus + HPO:probinson + Underdevelopment of frontal sinus. - + - orcid.org/0000-0001-5889-4463 Hypotrophic frontal sinus + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Small frontal sinuses - orcid.org/0000-0001-5889-4463 - HPO:probinson - Underdevelopment of frontal sinus. + ORCID:0000-0001-5889-4463 + Decreased volume of frontal sinuses - + + + + Decreased pneumatization of frontal sinus + ORCID:0000-0001-5889-4463 + + @@ -93244,19 +94507,19 @@ basilar kyphosis: < 125 degrees human_phenotype Right and left cleft lip and palate - - Cleft lip and cleft palate affecting both sides of the face. - HPO:probinson - - - Right and left cleft lip and palate - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + Cleft lip and cleft palate affecting both sides of the face. + HPO:probinson + + + @@ -93287,57 +94550,57 @@ basilar kyphosis: < 125 degrees - Oral leucoplakia - orcid.org/0000-0001-5889-4463 + Oral leukokeratosis + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Oral idiopathic leukoplakia + Oral leukoplasia + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Oral leukoplasia + ORCID:0000-0001-5889-4463 + Oral idiopathic white patch - Oral white plaque - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Oral white patch + - HPO:SKOEHLER - leukokeratosis + Oral white plaque + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Oral leukokeratosis + Oral idiopathic keratosis + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Oral white patch + Oral idiopathic leukoplakia + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Oral idiopathic white patch + HPO:SKOEHLER + leukokeratosis - Oral idiopathic keratosis - orcid.org/0000-0001-5889-4463 + Oral leucoplakia + ORCID:0000-0001-5889-4463 @@ -93424,18 +94687,18 @@ basilar kyphosis: < 125 degrees human_phenotype Softening of the bones - - HPO:curators - Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. - - - Softening of the bones + + HPO:curators + Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. + + + @@ -93488,12 +94751,6 @@ basilar kyphosis: < 125 degrees UMLS:C0541764 human_phenotype - - Delayed bone maturation - - - - Delayed skeletal development @@ -93506,6 +94763,12 @@ basilar kyphosis: < 125 degrees + + Delayed bone maturation + + + + @@ -93678,19 +94941,19 @@ basilar kyphosis: < 125 degrees human_phenotype Bone infection - - orcid.org/0000-0001-5208-3432 - Bone infection - - - - An infection of bone. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bone infection + + + + @@ -93748,6 +95011,12 @@ basilar kyphosis: < 125 degrees + + Spontaneous fracture + + + + A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. HPO:curators @@ -93760,12 +95029,6 @@ basilar kyphosis: < 125 degrees - - Spontaneous fracture - - - - @@ -93813,25 +95076,25 @@ basilar kyphosis: < 125 degrees Frequent fractures - Increased fractures + Increased fracture rate - Multiple spontaneous fractures + Multiple fractures - Increased fracture rate + Varying degree of multiple fractures - Recurrent fractures + Multiple spontaneous fractures @@ -93843,13 +95106,13 @@ basilar kyphosis: < 125 degrees - Varying degree of multiple fractures + Increased fractures - Multiple fractures + Recurrent fractures @@ -93896,10 +95159,11 @@ basilar kyphosis: < 125 degrees Increased joint mobility - HPO:curators - Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. + ORCID:0000-0001-5208-3432 + Increased joint mobility - + + HPO:skoehler @@ -93908,11 +95172,10 @@ basilar kyphosis: < 125 degrees - Increased joint mobility - orcid.org/0000-0001-5208-3432 + HPO:curators + Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. - - + @@ -93976,8 +95239,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-5208-3432 Abnormal shape of cartilage - orcid.org/0000-0001-5208-3432 @@ -94082,7 +95345,7 @@ basilar kyphosis: < 125 degrees Narrowing of windpipe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -94093,7 +95356,7 @@ basilar kyphosis: < 125 degrees - Abnormality of the trachea + Abnormal trachea morphology @@ -94115,7 +95378,7 @@ basilar kyphosis: < 125 degrees - An anomaly of the trachea. + A structural anomaly of the trachea. HP:0002778 MSH:D014133 SNOMEDCT_US:47125007 @@ -94123,9 +95386,10 @@ basilar kyphosis: < 125 degrees UMLS:C0040580 UMLS:C4025678 human_phenotype + Abnormality of the trachea - An anomaly of the trachea. + A structural anomaly of the trachea. HPO:probinson @@ -94185,7 +95449,7 @@ basilar kyphosis: < 125 degrees - + HP:0002781 Increased resistance to the passage of air in the upper airway. UMLS:C0740852 @@ -94330,18 +95594,18 @@ basilar kyphosis: < 125 degrees Upper respiratory tract infections, recurrent human_phenotype - - HPO:skoehler - Upper respiratory tract infections, recurrent - - - An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). HPO:probinson + + HPO:skoehler + Upper respiratory tract infections, recurrent + + + @@ -94386,18 +95650,18 @@ basilar kyphosis: < 125 degrees Very rapid breathing. human_phenotype - - Increased respiratory rate or depth of breathing - - - - HPO:probinson Very rapid breathing. + + Increased respiratory rate or depth of breathing + + + + @@ -94412,8 +95676,8 @@ basilar kyphosis: < 125 degrees Impaired breathing in newborn + ORCID:0000-0001-5208-3432 Impaired breathing in newborn - orcid.org/0000-0001-5208-3432 @@ -94467,6 +95731,13 @@ basilar kyphosis: < 125 degrees Respiratory depression Under breathing + + ORCID:0000-0001-6908-9849 + Slow breathing + + + + A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). HPO:probinson @@ -94474,15 +95745,8 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-6908-9849 Under breathing - - - - - - Slow breathing - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -94527,19 +95791,13 @@ basilar kyphosis: < 125 degrees Unusual breathing patterns - Abnormal respiratory patterns - - - - - - Unusual breathing patterns + Abnormal pattern of respiration - Abnormal pattern of respiration + Abnormal respiratory patterns @@ -94550,6 +95808,12 @@ basilar kyphosis: < 125 degrees + + Unusual breathing patterns + + + + @@ -94585,12 +95849,13 @@ basilar kyphosis: < 125 degrees human_phenotype Abnormal respiration Respiratory problem + Fyler:4200 - Respiratory problem + Abnormal respiration + ORCID:0000-0001-5208-3432 - - + Functional respiratory abnormality @@ -94599,10 +95864,10 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 - Abnormal respiration + Respiratory problem - + + @@ -94644,18 +95909,18 @@ basilar kyphosis: < 125 degrees UMLS:C0221204 human_phenotype - - HPO:sdoelken - Increased bone resorption - - - HPO:probinson Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. + + HPO:sdoelken + Increased bone resorption + + + @@ -94671,18 +95936,18 @@ basilar kyphosis: < 125 degrees congenital contractures human_phenotype - - HPO:probinson - One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. - - - HPO:skoehler congenital contractures + + HPO:probinson + One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. + + + @@ -94783,6 +96048,12 @@ basilar kyphosis: < 125 degrees Hunched back + + Exaggerated anterior convexity of the thoracic vertebral column. + HPO:probinson + + + Round back @@ -94791,17 +96062,11 @@ basilar kyphosis: < 125 degrees Hunched back - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - - Exaggerated anterior convexity of the thoracic vertebral column. - HPO:probinson - - - @@ -94839,15 +96104,15 @@ basilar kyphosis: < 125 degrees Dumbbell shaped wide portion of long bone + ORCID:0000-0001-5208-3432 Dumbbell shaped wide portion of long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-6908-9849 Dumbbell shaped metaphysis - orcid.org/0000-0001-6908-9849 @@ -94935,14 +96200,7 @@ basilar kyphosis: < 125 degrees Abnormal shape of limb bone - Arm and/or leg bone differences - - - - - - Abnormal shape of limb bone - orcid.org/0000-0001-5208-3432 + Limb abnormality @@ -94954,7 +96212,14 @@ basilar kyphosis: < 125 degrees - Limb abnormality + ORCID:0000-0001-5208-3432 + Abnormal shape of limb bone + + + + + + Arm and/or leg bone differences @@ -94997,18 +96262,18 @@ basilar kyphosis: < 125 degrees Abnormality of the leg - - An abnormality of the leg. - HPO:probinson - - - Abnormality of the lower limb + + An abnormality of the leg. + HPO:probinson + + + Lower limb deformities @@ -95050,18 +96315,18 @@ basilar kyphosis: < 125 degrees human_phenotype - - Abnormality of the knee - - - - An abnormality of the knee joint or surrounding structures. HPO:probinson + + Abnormality of the knee + + + + @@ -95077,39 +96342,39 @@ basilar kyphosis: < 125 degrees human_phenotype An abnormally increased extension of the knee joint, so that the knee can bend backwards. Back knee - Knee hyperextension Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. + Knee hyperextension - Genu recurvatum - MEDDRA:10018194 + An abnormally increased extension of the knee joint, so that the knee can bend backwards. + pmid:9580896 + HPO:probinson - + - Back knee - http://orcid.org/0000-0001-6908-9849 https://en.wikipedia.org/wiki/genu_recurvatum + ORCID:0000-0001-6908-9849 + Knee hyperextension - HPO:probinson - An abnormally increased extension of the knee joint, so that the knee can bend backwards. - pmid:9580896 - - - - - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 https://en.wikipedia.org/wiki/genu_recurvatum - Knee hyperextension + Back knee + + Genu recurvatum + MEDDRA:10018194 + + + @@ -95216,14 +96481,14 @@ basilar kyphosis: < 125 degrees Charcot arthropathy + ORCID:0000-0001-6908-9849 Charcot joint - orcid.org/0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 Charcot arthropathy + ORCID:0000-0001-6908-9849 @@ -95298,18 +96563,18 @@ basilar kyphosis: < 125 degrees Abnormality of the thighbone - Any anomaly of the structure of the femur. - HPO:probinson - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the thighbone + + Any anomaly of the structure of the femur. + HPO:probinson + + + @@ -95327,18 +96592,18 @@ basilar kyphosis: < 125 degrees - HPO:probinson - The presence of a tail-like skin appendage located adjacent to the sacrum. - - - - + ORCID:0000-0001-6908-9849 Human tail - orcid.org/0000-0001-6908-9849 + + HPO:probinson + The presence of a tail-like skin appendage located adjacent to the sacrum. + + + @@ -95354,9 +96619,9 @@ basilar kyphosis: < 125 degrees Halberd-shaped pelvis bone - HPO:probinson + HPO:probinson An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). - PMID:19232556 + PMID:19232556 @@ -95407,13 +96672,13 @@ basilar kyphosis: < 125 degrees - Hip dislocation + Dislocated hips - Dislocated hips + Hip dislocation @@ -95458,16 +96723,11 @@ basilar kyphosis: < 125 degrees Joint pain + ORCID:0000-0002-6548-5200 - - HPO:probinson - Joint pain. - - - HPO:skoehler Joint pains @@ -95475,6 +96735,12 @@ basilar kyphosis: < 125 degrees + + HPO:probinson + Joint pain. + + + @@ -95509,7 +96775,7 @@ basilar kyphosis: < 125 degrees Long tailbone - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Long tailbone @@ -95613,8 +96879,8 @@ basilar kyphosis: < 125 degrees Flared metaphysis of thigh bone + ORCID:0000-0001-5208-3432 Flared metaphysis of thigh bone - orcid.org/0000-0001-5208-3432 @@ -95642,8 +96908,8 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-6908-9849 Pulmonary aspiration + ORCID:0000-0001-6908-9849 @@ -95685,12 +96951,6 @@ basilar kyphosis: < 125 degrees Ectopia vesicae Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately. - - orcid.org/0000-0001-6908-9849 - Ectopia vesicae - - - Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. HPO:probinson @@ -95698,6 +96958,12 @@ basilar kyphosis: < 125 degrees + + Ectopia vesicae + ORCID:0000-0001-6908-9849 + + + @@ -95718,6 +96984,7 @@ basilar kyphosis: < 125 degrees An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. HPO:probinson + ISBN:0199747725, 9780199747726 @@ -95796,19 +97063,19 @@ basilar kyphosis: < 125 degrees human_phenotype Inflammation of the lymph nodes - - Inflammation of the lymph nodes - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Inflammation of a lymph node. + + ORCID:0000-0001-5208-3432 + Inflammation of the lymph nodes + + + + @@ -95826,18 +97093,18 @@ basilar kyphosis: < 125 degrees UMLS:C1844384 human_phenotype - - HPO:probinson - Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection. - - - Recurrent fungal infections + + HPO:probinson + Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection. + + + @@ -95903,8 +97170,8 @@ basilar kyphosis: < 125 degrees - Abnormal T cells HPO:skoehler + Abnormal T cells @@ -96160,12 +97427,6 @@ basilar kyphosis: < 125 degrees human_phenotype - - HPO:probinson - The legs angle inward, such that the knees are close together and the ankles far apart. - - - Knock knees @@ -96178,6 +97439,12 @@ basilar kyphosis: < 125 degrees + + HPO:probinson + The legs angle inward, such that the knees are close together and the ankles far apart. + + + @@ -96209,11 +97476,6 @@ basilar kyphosis: < 125 degrees HP:0002858 HP:0006754 MSH:D008579 - Meligioma - Mengioma - Mengiomia - Menigiom - Menigioma The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. UMLS:C0025286 human_phenotype @@ -96300,16 +97562,16 @@ basilar kyphosis: < 125 degrees Squamous cell cancer - HPO:probinson - The presence of squamous cell carcinoma of the skin. + ORCID:0000-0001-6908-9849 + Squamous cell cancer - + - Squamous cell cancer - orcid.org/0000-0001-6908-9849 + HPO:probinson + The presence of squamous cell carcinoma of the skin. - + @@ -96353,18 +97615,18 @@ basilar kyphosis: < 125 degrees human_phenotype Skin cancer (melanoma) - - Skin cancer (melanoma) - - - - HPO:probinson The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). + + Skin cancer (melanoma) + + + + @@ -96510,7 +97772,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Medullary thyroid cancer @@ -96797,20 +98059,20 @@ basilar kyphosis: < 125 degrees Nocturnal under breathing - orcid.org/0000-0001-6908-9849 Nocturnal under breathing + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 - Nocturnal hypopnea + ORCID:0000-0001-6908-9849 + Nocturnal slow breathing - Nocturnal slow breathing - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Nocturnal hypopnea @@ -96832,18 +98094,18 @@ basilar kyphosis: < 125 degrees UMLS:C1145670 human_phenotype - - A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. - HPO:probinson - - - Respiratory failure + + A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. + HPO:probinson + + + @@ -96940,8 +98202,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-6908-9849 Rapid breathing - orcid.org/0000-0001-6908-9849 @@ -97053,8 +98315,8 @@ basilar kyphosis: < 125 degrees HPO:probinson - A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. PMID:17268589 + A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. @@ -97261,18 +98523,18 @@ basilar kyphosis: < 125 degrees UMLS:C0032000 human_phenotype - - A benign epithelial tumor derived from intrinsic cells of the adenohypophysis. - DDD:spark - - - Pituitary adenoma ICD-O:M8272/0 + + A benign epithelial tumor derived from intrinsic cells of the adenohypophysis. + DDD:spark + + + @@ -97328,12 +98590,6 @@ basilar kyphosis: < 125 degrees increased risk of pancreatic cancer Pancreatic tumor - - increased risk of pancreatic cancer - - - - Pancreatic cancer @@ -97348,11 +98604,17 @@ basilar kyphosis: < 125 degrees Pancreatic tumor - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + increased risk of pancreatic cancer + + + + Cancer of the pancreas @@ -97469,14 +98731,14 @@ basilar kyphosis: < 125 degrees - Liver cancer + Liver tumor + ORCID:0000-0001-5208-3432 - Liver tumor - orcid.org/0000-0001-5208-3432 + Liver cancer @@ -97597,19 +98859,19 @@ basilar kyphosis: < 125 degrees human_phenotype Low blood potassium levels - - orcid.org/0000-0001-6908-9849 - Low blood potassium levels - - - - An abnormally decreased potassium concentration in the blood. HPO:probinson + + ORCID:0000-0001-6908-9849 + Low blood potassium levels + + + + @@ -97658,18 +98920,18 @@ basilar kyphosis: < 125 degrees Low blood calcium levels - An abnormally decreased calcium concentration in the blood. - HPO:curators - - - - - orcid.org/0000-0001-6908-9849 Low blood calcium levels + ORCID:0000-0001-6908-9849 + + An abnormally decreased calcium concentration in the blood. + HPO:curators + + + @@ -97717,18 +98979,18 @@ basilar kyphosis: < 125 degrees Low blood sodium levels - An abnormally decreased sodium concentration in the blood. - HPO:probinson - - - - + ORCID:0000-0001-6908-9849 Low blood sodium levels - orcid.org/0000-0001-6908-9849 + + An abnormally decreased sodium concentration in the blood. + HPO:probinson + + + @@ -97781,7 +99043,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High blood bilirubin levels @@ -97835,8 +99097,8 @@ basilar kyphosis: < 125 degrees High blood phosphate levels + ORCID:0000-0001-5208-3432 High blood phosphate levels - orcid.org/0000-0001-5208-3432 @@ -97947,7 +99209,7 @@ basilar kyphosis: < 125 degrees - + Abnormal liver enzymes Abnormal liver function Abnormal liver function tests @@ -98248,19 +99510,19 @@ basilar kyphosis: < 125 degrees human_phenotype Low blood magnesium levels - - orcid.org/0000-0001-6908-9849 - Low blood magnesium levels - - - - An abnormally decreased magnesium concentration in the blood. HPO:probinson + + Low blood magnesium levels + ORCID:0000-0001-6908-9849 + + + + @@ -98308,7 +99570,7 @@ basilar kyphosis: < 125 degrees High blood magnesium levels - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -98620,18 +99882,18 @@ basilar kyphosis: < 125 degrees Abnormal thyroid function - An abnormal functionality of the thyroid gland. - HPO:probinson - - - - - Abnormal thyroid function HPO:skoehler + Abnormal thyroid function + + An abnormal functionality of the thyroid gland. + HPO:probinson + + + @@ -98683,7 +99945,7 @@ basilar kyphosis: < 125 degrees High urine histidine levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -99180,8 +100442,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-6908-9849 Rounded neck - orcid.org/0000-0001-6908-9849 @@ -99234,18 +100496,18 @@ basilar kyphosis: < 125 degrees human_phenotype - - Spinal fusion - - - - A developmental defect leading to the union of two adjacent vertebrae. HPO:probinson + + Spinal fusion + + + + @@ -99288,14 +100550,14 @@ basilar kyphosis: < 125 degrees Cervical spine fusion - orcid.org/0000-0001-6908-9849 Cervical spine fusion + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 Fused neck + ORCID:0000-0001-6908-9849 @@ -99341,8 +100603,8 @@ basilar kyphosis: < 125 degrees Compression fracture - orcid.org/0000-0001-6908-9849 Compression fracture + ORCID:0000-0001-6908-9849 @@ -99367,7 +100629,7 @@ basilar kyphosis: < 125 degrees A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. HPO:probinson pmid:937513 - PMID: 10908370 + PMID: 10908370 @@ -99386,6 +100648,12 @@ basilar kyphosis: < 125 degrees Unregulated immune response Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. + + Immune dysregulation + + + + Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. PMID:26233425 @@ -99393,14 +100661,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-6908-9849 Unregulated immune response - orcid.org/0000-0001-6908-9849 - - - - - - Immune dysregulation @@ -99467,13 +100729,13 @@ basilar kyphosis: < 125 degrees Autoimmune condition - Autoimmune disorder + HPO:probinson + The occurrence of an immune reaction against the organism's own cells or tissues. - - + - Autoimmunity + Autoimmune disorder @@ -99485,10 +100747,10 @@ basilar kyphosis: < 125 degrees - HPO:probinson - The occurrence of an immune reaction against the organism's own cells or tissues. + Autoimmunity - + + @@ -99572,7 +100834,7 @@ basilar kyphosis: < 125 degrees Outward turned elbows - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -99770,10 +101032,10 @@ basilar kyphosis: < 125 degrees - Radioulnar synostosis - MEDDRA:10037798 + An abnormal osseous union (fusion) between the radius and the ulna. + HPO:probinson - + Fused forearm bones @@ -99782,10 +101044,10 @@ basilar kyphosis: < 125 degrees - An abnormal osseous union (fusion) between the radius and the ulna. - HPO:probinson + Radioulnar synostosis + MEDDRA:10037798 - + @@ -99824,19 +101086,19 @@ basilar kyphosis: < 125 degrees peter Absent/underdeveloped central nervous system tissue - - Absent/underdeveloped central nervous system tissue - orcid.org/0000-0001-5208-3432 - - - - Absence or underdevelopment of tissue in the central nervous system. HPO:probinson + + Absent/underdeveloped central nervous system tissue + ORCID:0000-0001-5208-3432 + + + + @@ -99878,6 +101140,12 @@ basilar kyphosis: < 125 degrees Bow-leggedness Bow legs + + Bowed lower limbs + + + + Bowed legs @@ -99890,12 +101158,6 @@ basilar kyphosis: < 125 degrees - - Bowed lower limbs - - - - @@ -99937,13 +101199,13 @@ basilar kyphosis: < 125 degrees - Bowed femura + Bowed femurs HPO:skoehler - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bowed thighbone @@ -99956,7 +101218,7 @@ basilar kyphosis: < 125 degrees - Bowed femurs + Bowed femura HPO:skoehler @@ -100055,14 +101317,14 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-5208-3432 Bowed shinbone - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bowed shankbone @@ -100106,18 +101368,18 @@ basilar kyphosis: < 125 degrees human_phenotype - - HPO:probinson - The presence of abnormally small extremities. - - - Micromelia MEDDRA:10027546 + + HPO:probinson + The presence of abnormally small extremities. + + + @@ -100272,18 +101534,18 @@ basilar kyphosis: < 125 degrees - - Elbow contractures - - - - A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. HPO:probinson + + Elbow contractures + + + + Contractures of elbows @@ -100336,8 +101598,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-5208-3432 Absent calf bone - http://orcid.org/0000-0001-5208-3432 @@ -100384,19 +101646,19 @@ basilar kyphosis: < 125 degrees Abnormality of the calf bone - - Abnormality of the calf bone - http://orcid.org/0000-0001-5208-3432 - - - - An anomaly of the calf bone (fibula), one of the two bones of the calf. HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormality of the calf bone + + + + @@ -100434,21 +101696,21 @@ basilar kyphosis: < 125 degrees Abnormality of the shinbone - Abnormality of the tibia (shinbone). - HPO:curators - - - - + ORCID:0000-0001-6908-9849 Abnormality of the shankbone - orcid.org/0000-0001-6908-9849 + + Abnormality of the tibia (shinbone). + HPO:curators + + + Abnormality of the shinbone - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -100472,13 +101734,13 @@ basilar kyphosis: < 125 degrees human_phenotype - Limited elbow mobility + Limited elbow movement - Limited elbow movement + Restricted elbow motion @@ -100490,7 +101752,7 @@ basilar kyphosis: < 125 degrees - Restricted elbow motion + Limited elbow mobility @@ -100576,7 +101838,7 @@ basilar kyphosis: < 125 degrees Dislocated kneecap - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -100857,8 +102119,8 @@ basilar kyphosis: < 125 degrees Bulging end part of bone + ORCID:0000-0001-5208-3432 Bulging end part of bone - orcid.org/0000-0001-5208-3432 @@ -100913,16 +102175,10 @@ basilar kyphosis: < 125 degrees UMLS:C1850135 human_phenotype marked metaphyseal flaring of long bones + Metaphyses flared HP:0000945 Flared wide portion of long bone - - http://orcid.org/0000-0001-5208-3432 - Flared wide portion of long bone - - - - HPO:probinson The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. @@ -100930,6 +102186,13 @@ basilar kyphosis: < 125 degrees + + Flared wide portion of long bone + ORCID:0000-0001-5208-3432 + + + + @@ -100969,18 +102232,18 @@ basilar kyphosis: < 125 degrees Broad wide portion of long bone - Abnormal widening of the metaphyseal regions of long bones. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Broad wide portion of long bone - http://orcid.org/0000-0001-5208-3432 + + Abnormal widening of the metaphyseal regions of long bones. + HPO:probinson + + + @@ -101018,6 +102281,12 @@ basilar kyphosis: < 125 degrees human_phenotype + + Abnormalities of the wrists + + + + Abnormality of the wrist @@ -101030,12 +102299,6 @@ basilar kyphosis: < 125 degrees - - Abnormalities of the wrists - - - - @@ -101128,8 +102391,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-6908-9849 Underdeveloped ulna - orcid.org/0000-0001-6908-9849 @@ -101209,7 +102472,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular wide portion of a long bone @@ -101274,13 +102537,13 @@ basilar kyphosis: < 125 degrees - Long bone shortening + Short long bone - Short long bone + Long bone shortening @@ -101484,7 +102747,7 @@ basilar kyphosis: < 125 degrees Increased bone density in shaft of long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in shaft of long bone @@ -101532,18 +102795,18 @@ basilar kyphosis: < 125 degrees Prominent joints - - HPO:probinson - Increase in size of one or more joints. - - - Enlarged joints + + HPO:probinson + Increase in size of one or more joints. + + + @@ -101587,8 +102850,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-5208-3432 Short calf bone - http://orcid.org/0000-0001-5208-3432 @@ -101689,19 +102952,19 @@ basilar kyphosis: < 125 degrees human_phenotype - Elbow dislocations + Elbow dislocation - Dislocations of the elbows + Elbow dislocations - Elbow dislocation + Dislocations of the elbows @@ -101748,18 +103011,18 @@ basilar kyphosis: < 125 degrees human_phenotype - - An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. - HPO:probinson - - - Abnormality of the shoulder + + An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. + HPO:probinson + + + @@ -101837,19 +103100,19 @@ basilar kyphosis: < 125 degrees Abnormal kneecap - - Abnormal kneecap - orcid.org/0000-0001-5208-3432 - - - - Abnormality of the patella (knee cap). HPO:probinson + + Abnormal kneecap + ORCID:0000-0001-5208-3432 + + + + @@ -101966,19 +103229,19 @@ basilar kyphosis: < 125 degrees human_phenotype Enlarged wide portion of a long bone - - orcid.org/0000-0001-5889-4463 - Enlarged wide portion of a long bone - - - - Abnormal increase in size of one or more metaphyses. HPO:probinson + + Enlarged wide portion of a long bone + ORCID:0000-0001-5889-4463 + + + + @@ -102134,15 +103397,15 @@ basilar kyphosis: < 125 degrees Underdeveloped kneecap - Small kneecap - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Underdeveloped kneecap - Underdeveloped kneecap - orcid.org/0000-0001-6908-9849 + Small kneecap + ORCID:0000-0001-6908-9849 @@ -102190,9 +103453,9 @@ basilar kyphosis: < 125 degrees - pmid:12362035 HPO:probinson An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. + pmid:12362035 @@ -102262,18 +103525,18 @@ basilar kyphosis: < 125 degrees Flat end part of bone - Abnormal flatness (decreased height) of epiphyses. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Flat end part of bone - orcid.org/0000-0001-5208-3432 + + Abnormal flatness (decreased height) of epiphyses. + HPO:probinson + + + @@ -102323,13 +103586,6 @@ basilar kyphosis: < 125 degrees High blood calcium levels Increased calcium in blood - - orcid.org/0000-0001-5208-3432 - Increased calcium in blood - - - - An abnormally increased calcium concentration in the blood. HPO:curators @@ -102337,8 +103593,15 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-5208-3432 + Increased calcium in blood + + + + + + ORCID:0000-0001-6908-9849 High blood calcium levels - orcid.org/0000-0001-6908-9849 @@ -102391,6 +103654,12 @@ basilar kyphosis: < 125 degrees Low albumin Low blood albumin + + HPO:probinson + Reduction in the concentration of albumin in the blood. + + + Low albumin @@ -102403,12 +103672,6 @@ basilar kyphosis: < 125 degrees - - HPO:probinson - Reduction in the concentration of albumin in the blood. - - - @@ -102456,16 +103719,16 @@ basilar kyphosis: < 125 degrees High blood glucose - High blood sugar - orcid.org/0000-0001-6908-9849 + High blood glucose + ORCID:0000-0001-6908-9849 - - High blood glucose - orcid.org/0000-0001-6908-9849 + High blood sugar + ORCID:0000-0001-6908-9849 + @@ -102747,18 +104010,18 @@ basilar kyphosis: < 125 degrees human_phenotype Hyperkaliuresis - - An increased concentration of potassium(1+) in the urine. - HPO:probinson - - - Increased urinary potassium + + An increased concentration of potassium(1+) in the urine. + HPO:probinson + + + @@ -102806,18 +104069,18 @@ basilar kyphosis: < 125 degrees UMLS:C0265563 human_phenotype - - Dislocated radial heads - HPO:skoehler - - - A dislocation of the head of the radius from its socket in the elbow joint. HPO:curators + + Dislocated radial heads + HPO:skoehler + + + @@ -102899,13 +104162,7 @@ basilar kyphosis: < 125 degrees Long calf bone - http://orcid.org/0000-0001-5208-3432 - - - - - - Long fibula + ORCID:0000-0001-5208-3432 @@ -102916,6 +104173,12 @@ basilar kyphosis: < 125 degrees + + Long fibula + + + + @@ -102930,8 +104193,8 @@ basilar kyphosis: < 125 degrees Small hands and feet. - Small hands and feet. pmid:22286749 + Small hands and feet. HPO:probinson @@ -103044,25 +104307,25 @@ basilar kyphosis: < 125 degrees Small innermost thighbone end part - HPO:probinson - Underdevelopment of the proximal epiphysis of the femur. - - - - - orcid.org/0000-0001-5208-3432 Small innermost thighbone end part + ORCID:0000-0001-5208-3432 Underdevelopment of the innermost thighbone end part - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:probinson + Underdevelopment of the proximal epiphysis of the femur. + + + @@ -103099,12 +104362,6 @@ basilar kyphosis: < 125 degrees UMLS:C3553368 human_phenotype - - HPO:probinson - Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. - - - Restricted hip extension @@ -103117,6 +104374,12 @@ basilar kyphosis: < 125 degrees + + HPO:probinson + Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. + + + @@ -103136,7 +104399,7 @@ basilar kyphosis: < 125 degrees Infected joint - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -103189,7 +104452,7 @@ basilar kyphosis: < 125 degrees - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short thighbone @@ -103229,6 +104492,13 @@ basilar kyphosis: < 125 degrees human_phenotype Overgrowth of calf bone + + Overgrowth of calf bone + ORCID:0000-0001-5208-3432 + + + + HPO:probinson Relatively increased growth of the fibula compared to that of the tibia. @@ -103236,13 +104506,6 @@ basilar kyphosis: < 125 degrees - - Overgrowth of calf bone - http://orcid.org/0000-0001-5208-3432 - - - - @@ -103296,13 +104559,7 @@ basilar kyphosis: < 125 degrees - HPO:probinson - Reduced diameter of a long bone. - - - - - Long bones slender + Slender long bone @@ -103314,11 +104571,17 @@ basilar kyphosis: < 125 degrees - Slender long bone + Long bones slender + + HPO:probinson + Reduced diameter of a long bone. + + + @@ -103395,18 +104658,18 @@ basilar kyphosis: < 125 degrees UMLS:C1851418 human_phenotype - - Protuberances at ends of long bones - - - - HPO:probinson The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. + + Protuberances at ends of long bones + + + + @@ -103422,8 +104685,8 @@ basilar kyphosis: < 125 degrees Subperiosteal erosions - Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. PMID:24849102 + Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. @@ -103519,13 +104782,6 @@ basilar kyphosis: < 125 degrees human_phenotype High urine glycine levels - - orcid.org/0000-0001-5208-3432 - High urine glycine levels - - - - An increased concentration of glycine in the urine. HPO:gcarletti @@ -103534,6 +104790,13 @@ basilar kyphosis: < 125 degrees + + ORCID:0000-0001-5208-3432 + High urine glycine levels + + + + @@ -103582,19 +104845,19 @@ basilar kyphosis: < 125 degrees human_phenotype High urine phosphate levels - - An increased excretion of phosphates in the urine. - HPO:curators - - - High urine phosphate levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + An increased excretion of phosphates in the urine. + HPO:curators + + + @@ -103644,10 +104907,10 @@ basilar kyphosis: < 125 degrees Urine issues - An abnormality of the composition of urine or the levels of its components. - HPO:probinson + Urine issues - + + Pee issues @@ -103656,10 +104919,10 @@ basilar kyphosis: < 125 degrees - Urine issues + An abnormality of the composition of urine or the levels of its components. + HPO:probinson - - + @@ -103754,18 +105017,18 @@ basilar kyphosis: < 125 degrees UMLS:C4025653 human_phenotype - - Abnormality of serum amino acid levels - - - - HPO:curators The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. + + Abnormality of serum amino acid levels + + + + @@ -103813,8 +105076,8 @@ basilar kyphosis: < 125 degrees Low blood chloride levels + ORCID:0000-0001-5208-3432 Low blood chloride levels - orcid.org/0000-0001-5208-3432 @@ -103856,15 +105119,15 @@ basilar kyphosis: < 125 degrees Abnormal rhythm of the heart. - EKG abnormality + Abnormal EKG - + - Abnormal EKG + EKG abnormality - + @@ -103891,12 +105154,6 @@ basilar kyphosis: < 125 degrees UMLS:C0476369 human_phenotype - - Abnormal echocardiography - - - - An abnormality detectable by sonography of the heart (echocardiography). HPO:probinson @@ -103909,6 +105166,12 @@ basilar kyphosis: < 125 degrees + + Abnormal echocardiography + + + + @@ -104033,16 +105296,16 @@ basilar kyphosis: < 125 degrees - Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. - DDD:spark + HPO:skoehler + Hypercortisolism - + - Hypercortisolism - HPO:skoehler + DDD:spark + Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. - + @@ -104125,18 +105388,18 @@ basilar kyphosis: < 125 degrees UMLS:C1969879 human_phenotype - - Limb contractures - - - - A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. HPO:probinson + + Limb contractures + + + + @@ -104192,34 +105455,34 @@ basilar kyphosis: < 125 degrees High cholesterol - Increased total cholesterol + Elevated serum cholesterol - High cholesterol + An increased concentration of cholesterol in the blood. + HPO:gcarletti - - + - Elevated total cholesterol + Increased total cholesterol - An increased concentration of cholesterol in the blood. - HPO:gcarletti + Elevated total cholesterol - + + - Elevated serum cholesterol + High cholesterol - + @@ -104318,7 +105581,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Low urine calcium levels @@ -104482,8 +105745,8 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 High urine cystine levels + ORCID:0000-0001-5208-3432 @@ -104673,18 +105936,18 @@ basilar kyphosis: < 125 degrees human_phenotype Increased BUN - - An increased amount of nitrogen in the form of urea in the blood. - HPO:gcarletti - - - Increased blood urea nitrogen + + An increased amount of nitrogen in the form of urea in the blood. + HPO:gcarletti + + + @@ -104700,8 +105963,8 @@ basilar kyphosis: < 125 degrees A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. - A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. PMID:23726535 + A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. @@ -104772,20 +106035,20 @@ basilar kyphosis: < 125 degrees Hyperbetalipoproteinemia - Increased plasma LDL levels + Increased circulating LDL level + ORCID:0000-0001-5208-3432 - + - Increased LDL cholesterol + Increased plasma LDL levels - + - orcid.org/0000-0001-5208-3432 - Increased circulating LDL level + Increased LDL cholesterol @@ -104950,18 +106213,18 @@ basilar kyphosis: < 125 degrees Decreased circulating cholesterol level - An decreased concentration of cholesterol in the blood. - HPO:gcarletti - - - - + ORCID:0000-0001-5208-3432 Decreased circulating cholesterol level - orcid.org/0000-0001-5208-3432 + + An decreased concentration of cholesterol in the blood. + HPO:gcarletti + + + @@ -104978,13 +106241,13 @@ basilar kyphosis: < 125 degrees human_phenotype - Acid phosphatase elevated + Elevated serum acid phosphatase - Elevated serum acid phosphatase + Acid phosphatase elevated @@ -105035,8 +106298,8 @@ basilar kyphosis: < 125 degrees High urine uric acid level + ORCID:0000-0001-5208-3432 High urine uric acid level - orcid.org/0000-0001-5208-3432 @@ -105112,8 +106375,8 @@ basilar kyphosis: < 125 degrees Increased serum calcitriol - orcid.org/0000-0001-5208-3432 Increased serum calcitriol + ORCID:0000-0001-5208-3432 @@ -105166,7 +106429,7 @@ basilar kyphosis: < 125 degrees High urine cystathionine levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -105224,14 +106487,14 @@ basilar kyphosis: < 125 degrees High blood corticotropin levels - orcid.org/0000-0001-5208-3432 - High blood corticotropin levels + Increased circulating ACTH level - Increased circulating ACTH level + ORCID:0000-0001-5208-3432 + High blood corticotropin levels @@ -105285,12 +106548,6 @@ basilar kyphosis: < 125 degrees human_phenotype Hyperphosphatasemia - - Increased alkaline phosphatase - - - - Abnormally increased serum levels of alkaline phosphatase activity. HPO:probinson @@ -105298,35 +106555,41 @@ basilar kyphosis: < 125 degrees - Greatly elevated alkaline phosphatase + Elevated alkaline phosphatase - HPO:probinson - Hyperphosphatasia + High serum alkaline phosphatase + - Increased serum alkaline phosphatase + Greatly elevated alkaline phosphatase - Elevated alkaline phosphatase + Increased alkaline phosphatase - High serum alkaline phosphatase + Increased serum alkaline phosphatase + + HPO:probinson + Hyperphosphatasia + + + @@ -105366,8 +106629,8 @@ basilar kyphosis: < 125 degrees High urine oxalate levels - orcid.org/0000-0001-5208-3432 High urine oxalate levels + ORCID:0000-0001-5208-3432 @@ -105468,8 +106731,8 @@ basilar kyphosis: < 125 degrees Low blood sugar when fasting + ORCID:0000-0001-5208-3432 Low blood sugar when fasting - http://orcid.org/0000-0001-5208-3432 @@ -105519,18 +106782,18 @@ basilar kyphosis: < 125 degrees UMLS:C1848702 human_phenotype - - An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. - HPO:probinson - - - Elevated urinary delta-aminolevulinic acid + + An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. + HPO:probinson + + + @@ -105702,19 +106965,19 @@ basilar kyphosis: < 125 degrees human_phenotype High urine carnosine levels - - High urine carnosine levels - orcid.org/0000-0001-5208-3432 - - - - An increased concentration of carnosine in the urine. HPO:probinson + + ORCID:0000-0001-5208-3432 + High urine carnosine levels + + + + @@ -105764,7 +107027,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the hipbone socket @@ -105814,25 +107077,25 @@ basilar kyphosis: < 125 degrees - HPO:probinson An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. + HPO:probinson - Abnormality of the pubis + Abnormality of the pubic bones - Abnormality of the pubic bones + Abnormality of the pubic bone - Abnormality of the pubic bone + Abnormality of the pubis @@ -105873,8 +107136,8 @@ basilar kyphosis: < 125 degrees Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. - Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. HPO:probinson + Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. @@ -106191,8 +107454,8 @@ basilar kyphosis: < 125 degrees The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. - HPO:probinson The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. + HPO:probinson @@ -106239,15 +107502,15 @@ basilar kyphosis: < 125 degrees - HPO:curators - Invaginated nipples + Inverted nipples + - Inverted nipples + HPO:curators + Invaginated nipples - @@ -106286,18 +107549,18 @@ basilar kyphosis: < 125 degrees Underdevelopment of the breast. human_phenotype - - HPO:probinson - Underdevelopment of the breast. - - - Underdeveloped breasts + + HPO:probinson + Underdevelopment of the breast. + + + @@ -106341,55 +107604,55 @@ basilar kyphosis: < 125 degrees Increased length of nose - orcid.org/0000-0001-5889-4463 - Increased length of nose + Increased nasal height + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased height of nose - Increased nasal length - orcid.org/0000-0001-5889-4463 + Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. + pmid:19152422 - - + - Increased nasal height - orcid.org/0000-0001-5889-4463 + Increased nasal length + ORCID:0000-0001-5889-4463 - Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. - pmid:19152422 + ORCID:0000-0001-5889-4463 + Nasal elongation - + + - Elongated nose - orcid.org/0000-0001-5889-4463 + Long nose - orcid.org/0000-0001-5889-4463 - Nasal elongation + ORCID:0000-0001-5889-4463 + Increased length of nose - Long nose + ORCID:0000-0001-5889-4463 + Elongated nose @@ -106435,12 +107698,6 @@ basilar kyphosis: < 125 degrees Cleft nostril Cleft nasal alae - - orcid.org/0000-0001-5889-4463 - Cleft nasal alae - - - HPO:probinson The presence of a notch in the margin of the ala nasi. @@ -106449,12 +107706,18 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5889-4463 Cleft nostril + ORCID:0000-0001-5889-4463 + + Cleft nasal alae + ORCID:0000-0001-5889-4463 + + + @@ -106476,11 +107739,10 @@ basilar kyphosis: < 125 degrees Hayfever - Nasal allergies - orcid.org/0000-0001-5889-4463 + Hay fever - + It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. @@ -106495,10 +107757,11 @@ basilar kyphosis: < 125 degrees - Hay fever + ORCID:0000-0001-5889-4463 + Nasal allergies - + @@ -106537,28 +107800,28 @@ basilar kyphosis: < 125 degrees Decreased length of bridge of nose - orcid.org/0000-0001-5889-4463 - Short bridge of nose + ORCID:0000-0001-5889-4463 + Decreased length of nasal bridge - Decreased length of nasal bridge - orcid.org/0000-0001-5889-4463 + Short nasal bridge - Decreased length of bridge of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Short bridge of nose - Short nasal bridge + ORCID:0000-0001-5889-4463 + Decreased length of bridge of nose @@ -106614,27 +107877,27 @@ basilar kyphosis: < 125 degrees - Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. - HPO:probinson - pmid:19152422 + Small nose - + + - orcid.org/0000-0001-5889-4463 - Decreased length of nose + Short nose - Small nose + Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. + HPO:probinson + pmid:19152422 - - + - Short nose + Decreased length of nose + ORCID:0000-0001-5889-4463 @@ -106695,8 +107958,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-5208-3432 Muscle tissue disease - orcid.org/0000-0001-5208-3432 @@ -106857,13 +108120,6 @@ basilar kyphosis: < 125 degrees human_phenotype Muscle degeneration - - Muscle degeneration - orcid.org/0000-0001-5208-3432 - - - - Muscle wasting @@ -106876,6 +108132,13 @@ basilar kyphosis: < 125 degrees + + Muscle degeneration + ORCID:0000-0001-5208-3432 + + + + @@ -107379,6 +108642,13 @@ basilar kyphosis: < 125 degrees human_phenotype High urine orotic acid levels + + ORCID:0000-0001-5208-3432 + High urine orotic acid levels + + + + HPO:skoehler Orotic aciduria @@ -107391,13 +108661,6 @@ basilar kyphosis: < 125 degrees - - orcid.org/0000-0001-5208-3432 - High urine orotic acid levels - - - - @@ -107637,18 +108900,18 @@ basilar kyphosis: < 125 degrees High blood sodium levels - An abnormally increased sodium concentration in the blood. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High blood sodium levels + + An abnormally increased sodium concentration in the blood. + HPO:probinson + + + @@ -107703,8 +108966,8 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 Increased tyrosine in blood + ORCID:0000-0001-5208-3432 @@ -107778,6 +109041,12 @@ basilar kyphosis: < 125 degrees human_phenotype Hypoalphalipoproteinemia + + Decreased circulating high-density lipoprotein cholesterol + + + + Decreased HDL cholesterol @@ -107790,12 +109059,6 @@ basilar kyphosis: < 125 degrees - - Decreased circulating high-density lipoprotein cholesterol - - - - Low HDL-cholesterol @@ -107850,18 +109113,18 @@ basilar kyphosis: < 125 degrees UMLS:C1142132 human_phenotype - - A decreased concentration of carnitine in the blood. - HPO:gcarletti - - - Decreased plasma carnitine + + A decreased concentration of carnitine in the blood. + HPO:gcarletti + + + Carnitine deficiency @@ -107925,7 +109188,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased methionine in blood @@ -107998,85 +109261,85 @@ basilar kyphosis: < 125 degrees (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) - Elevated serum creatine kinase + Increased CPK - Increased serum CK + Increased creatine kinase - High serum creatine kinase + Elevated creatine kinase - Elevated serum CPK + Elevated serum creatine kinase - Elevated creatine kinase + Increased serum creatine phosphokinase - Increased CPK + Elevated serum creatine phosphokinase - Elevated blood creatine phosphokinase + Increased serum creatine kinase - Increased serum creatine kinase + Increased creatine phosphokinase - Elevated serum creatine phosphokinase + Increased serum CK - Increased creatine phosphokinase + Elevated blood creatine phosphokinase - Increased serum creatine phosphokinase + An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. + HPO:probinson - - + - Increased creatine kinase + High serum creatine kinase - An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. - HPO:probinson + Elevated circulating creatine phosphokinase - + + - Elevated circulating creatine phosphokinase + Elevated serum CPK @@ -108189,19 +109452,19 @@ basilar kyphosis: < 125 degrees human_phenotype High urine phosphoethanolamine levels - - High urine phosphoethanolamine levels - http://orcid.org/0000-0001-5208-3432 - - - - An increased concentration of phosphoethanolamine in the urine. HPO:probinson + + ORCID:0000-0001-5208-3432 + High urine phosphoethanolamine levels + + + + @@ -108686,31 +109949,31 @@ basilar kyphosis: < 125 degrees High blood creatinine level - High blood creatinine level + An increased amount of creatinine in the blood. + HPO:gcarletti - - + - Increased serum creatinine + Elevated creatinine - An increased amount of creatinine in the blood. - HPO:gcarletti + Increased creatinine - + + - Elevated creatinine + High blood creatinine level - Increased creatinine + Increased serum creatinine @@ -108762,19 +110025,19 @@ basilar kyphosis: < 125 degrees human_phenotype High blood hydroxyproline levels - - High blood hydroxyproline levels - orcid.org/0000-0001-5208-3432 - - - - An increased concentration of hydroxyproline in the blood. HPO:gcarletti + + ORCID:0000-0001-5208-3432 + High blood hydroxyproline levels + + + + @@ -108888,18 +110151,18 @@ basilar kyphosis: < 125 degrees human_phenotype High blood bilirubin levels in neonate - - High blood bilirubin levels in neonate - orcid.org/0000-0001-5208-3432 - - - A type of hyperbilirubinemia with neonatal onset. HPO:probinson + + High blood bilirubin levels in neonate + ORCID:0000-0001-5208-3432 + + + @@ -108997,7 +110260,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High urine arginine levels @@ -109063,13 +110326,7 @@ basilar kyphosis: < 125 degrees - Abdominal bloating - - - - - - Belly bloating + Abdominal swelling @@ -109087,7 +110344,13 @@ basilar kyphosis: < 125 degrees - Abdominal swelling + Belly bloating + + + + + + Abdominal bloating @@ -109169,18 +110432,18 @@ basilar kyphosis: < 125 degrees UMLS:C4021735 human_phenotype - - An abnormality of the hip bone. - HPO:probinson - - - Abnormality of the hip bone + + An abnormality of the hip bone. + HPO:probinson + + + Abnormality of the hips @@ -109310,17 +110573,17 @@ basilar kyphosis: < 125 degrees - Narrow pelvis bone + Narrow pelvis + HPO:skoehler - + - HPO:skoehler - Narrow pelvis + Narrow pelvis bone - + @@ -109337,18 +110600,18 @@ basilar kyphosis: < 125 degrees human_phenotype Pelvic exostoses - - Pelvic exostoses - HPO:skoehler - - - A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. HPO:probinson + + Pelvic exostoses + HPO:skoehler + + + @@ -109417,18 +110680,18 @@ basilar kyphosis: < 125 degrees human_phenotype Square pelvis - - An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. - HPO:probinson - - - Square pelvis bone + + An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. + HPO:probinson + + + HPO:skoehler Square pelvis @@ -109529,13 +110792,13 @@ basilar kyphosis: < 125 degrees - High ferritin level + Elevated serum ferritin - Elevated serum ferritin + High ferritin level @@ -109640,8 +110903,8 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 High blood cystathionine levels + ORCID:0000-0001-5208-3432 @@ -109753,13 +111016,8 @@ basilar kyphosis: < 125 degrees Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. UMLS:C1837802 human_phenotype + Reduced circulating leptin level - - Decreased serum leptin - - - - A decreased concentration of leptin in the blood. HPO:probinson @@ -109767,6 +111025,12 @@ basilar kyphosis: < 125 degrees + + Decreased serum leptin + + + + @@ -109824,13 +111088,6 @@ basilar kyphosis: < 125 degrees human_phenotype High urine threonine levels - - High urine threonine levels - orcid.org/0000-0001-5208-3432 - - - - An increased concentration of threonine in the urine. HPO:probinson @@ -109839,6 +111096,13 @@ basilar kyphosis: < 125 degrees + + High urine threonine levels + ORCID:0000-0001-5208-3432 + + + + @@ -109896,8 +111160,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-5208-3432 High blood lysine levels - orcid.org/0000-0001-5208-3432 @@ -110173,8 +111437,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-6908-9849 Prominent swayback - http://orcid.org/0000-0001-6908-9849 @@ -110342,18 +111606,18 @@ basilar kyphosis: < 125 degrees Small odontoid peg - - orcid.org/0000-0001-5208-3432 - Small odontoid peg - - - Developmental hypoplasia of the dens of the axis. HPO:probinson + + ORCID:0000-0001-5208-3432 + Small odontoid peg + + + @@ -110493,18 +111757,18 @@ basilar kyphosis: < 125 degrees - - Abnormal cervical spine - - - - Cervical vertebral anomalies HPO:skoehler + + Abnormal cervical spine + + + + @@ -110754,26 +112018,27 @@ basilar kyphosis: < 125 degrees HPO:skoehler Myalgias + - - layperson synonym - orcid.org/0000-0002-0736-9199 - Muscle ache - - - HPO:probinson Pain in muscle. + + ORCID:0000-0002-0736-9199 + Muscle ache + + + + Muscle pain - layperson term - orcid.org/0000-0002-0736-9199 + ORCID:0000-0002-0736-9199 + @@ -111282,10 +112547,12 @@ basilar kyphosis: < 125 degrees human_phenotype - Increased serum alanine + An increased concentration of alanine in the blood. + HPO:gcarletti + pmid:16902722 + pmid:4696900 - - + Increased blood alanine @@ -111294,12 +112561,10 @@ basilar kyphosis: < 125 degrees - An increased concentration of alanine in the blood. - HPO:gcarletti - pmid:16902722 - pmid:4696900 + Increased serum alanine - + + @@ -111508,8 +112773,8 @@ basilar kyphosis: < 125 degrees + ORCID:0000-0001-5208-3432 High blood threonine levels - orcid.org/0000-0001-5208-3432 @@ -111564,18 +112829,18 @@ basilar kyphosis: < 125 degrees human_phenotype Hyperaminoaciduria - - An increased concentration of an amino acid in the urine. - HPO:SKOEHLER - - - Abnormal urinary amino-acid findings + + An increased concentration of an amino acid in the urine. + HPO:SKOEHLER + + + @@ -111591,8 +112856,8 @@ basilar kyphosis: < 125 degrees Decreased thymic hormone - PMID:7058086 A reduction in the level of thymic horomone. + PMID:7058086 @@ -111690,18 +112955,18 @@ basilar kyphosis: < 125 degrees UMLS:C1848958 human_phenotype - - Decreased concentration of sulfate in the urine. - HPO:probinson - - - Decreased urinary sulfate + + Decreased concentration of sulfate in the urine. + HPO:probinson + + + @@ -111749,6 +113014,13 @@ basilar kyphosis: < 125 degrees human_phenotype High urine tryptophan levels + + High urine tryptophan levels + ORCID:0000-0001-5208-3432 + + + + An increased concentration of tryptophan in the urine. HPO:gcarletti @@ -111756,13 +113028,6 @@ basilar kyphosis: < 125 degrees - - High urine tryptophan levels - orcid.org/0000-0001-5208-3432 - - - - @@ -111808,18 +113073,18 @@ basilar kyphosis: < 125 degrees human_phenotype Increased circulating very-low-density lipoprotein cholesterol - - An increase in the amount of very-low-density lipoprotein cholesterol in the blood. - HPO:gcarletti - - - Increased plasma VLDL cholesterol + + An increase in the amount of very-low-density lipoprotein cholesterol in the blood. + HPO:gcarletti + + + @@ -111837,6 +113102,7 @@ basilar kyphosis: < 125 degrees Situs inversus viscerum UMLS:C0037221 human_phenotype + Fyler:3816 A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen. @@ -111863,7 +113129,7 @@ basilar kyphosis: < 125 degrees Hip joint pain - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -111889,7 +113155,7 @@ basilar kyphosis: < 125 degrees Abnormal neck or head of thigh bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -111928,19 +113194,19 @@ basilar kyphosis: < 125 degrees human_phenotype Abnormal neck of thigh bone - - orcid.org/0000-0001-5208-3432 - Abnormal neck of thigh bone - - - - An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormal neck of thigh bone + + + + @@ -111975,19 +113241,19 @@ basilar kyphosis: < 125 degrees human_phenotype Abnormal head of thigh bone - - An abnormality of the femoral head. - HPO:probinson - - - Abnormal head of thigh bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + An abnormality of the femoral head. + HPO:probinson + + + @@ -112029,18 +113295,18 @@ basilar kyphosis: < 125 degrees Flat end part of innermost thighbone - An abnormal flattening of the proximal epiphysis of the femur. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Flat end part of innermost thighbone + ORCID:0000-0001-5208-3432 + + An abnormal flattening of the proximal epiphysis of the femur. + HPO:probinson + + + @@ -112077,19 +113343,19 @@ basilar kyphosis: < 125 degrees human_phenotype Enlarged end part of innermost thighbone - - Enlarged end part of innermost thighbone - orcid.org/0000-0001-5208-3432 - - - - An abnormal enlargement of the proximal epiphysis of the femur. HPO:probinson + + Enlarged end part of innermost thighbone + ORCID:0000-0001-5208-3432 + + + + @@ -112158,18 +113424,18 @@ basilar kyphosis: < 125 degrees 'steppage' gait - An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High stepping + + An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. + HPO:probinson + + + @@ -112359,19 +113625,19 @@ basilar kyphosis: < 125 degrees human_phenotype Tired easily - - HPO:probinson - Increased susceptibility to fatigue. - - - Tired easily - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:probinson + Increased susceptibility to fatigue. + + + @@ -112667,10 +113933,10 @@ basilar kyphosis: < 125 degrees Tingling - Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. - HPO:probinson + Tingling - + + Pins and needles feeling @@ -112679,10 +113945,10 @@ basilar kyphosis: < 125 degrees - Tingling + Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. + HPO:probinson - - + @@ -112859,8 +114125,8 @@ basilar kyphosis: < 125 degrees An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. - An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. HPO:probinson + An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. @@ -113051,10 +114317,10 @@ basilar kyphosis: < 125 degrees - An abnormality related to a defect of vertebral separation during development. HPO:probinson pmid:23801490 pmid:23653580 + An abnormality related to a defect of vertebral separation during development. @@ -113982,21 +115248,22 @@ basilar kyphosis: < 125 degrees UMLS:C4020840 Vertebral anomalies human_phenotype + Fyler:4108 Abnormality of the vertebrae Abnormal vertebrae - - An abnormality of one or more of the vertebrae. - HPO:probinson - - - HPO:skoehler Multiple vertebral anomalies + + An abnormality of one or more of the vertebrae. + HPO:probinson + + + @@ -114074,14 +115341,14 @@ basilar kyphosis: < 125 degrees Inability to move - Paralysis + Inability to move + ORCID:0000-0001-5208-3432 - Inability to move - orcid.org/0000-0001-5208-3432 + Paralysis @@ -114536,18 +115803,18 @@ basilar kyphosis: < 125 degrees UMLS:C1846797 human_phenotype - - HPO:skoehler - Short stature, severe disproportionate - - - A kind of short stature in which different regions of the body are shortened to differing extents. HPO:probinson + + HPO:skoehler + Short stature, severe disproportionate + + + @@ -114567,18 +115834,18 @@ basilar kyphosis: < 125 degrees human_phenotype short stature, mild - - A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. - DDD:hfirth - - - HPO:skoehler short stature, mild + + A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. + DDD:hfirth + + + @@ -114652,17 +115919,11 @@ basilar kyphosis: < 125 degrees human_phenotype - Proportionate dwarfism + Dwarfism - - A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. - HPO:probinson - - - HPO:skoehler Short stature, severe @@ -114671,13 +115932,19 @@ basilar kyphosis: < 125 degrees - Severe short stature + A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. + HPO:probinson + + + + + Proportionate dwarfism - Dwarfism + Severe short stature @@ -114766,12 +116033,6 @@ basilar kyphosis: < 125 degrees UMLS:C1846435 human_phenotype - - Disproportionate short-trunked dwarfism - - - - Short-trunked dwarfism @@ -114784,6 +116045,12 @@ basilar kyphosis: < 125 degrees + + Disproportionate short-trunked dwarfism + + + + Disproportionate short-trunked short stature @@ -114898,8 +116165,8 @@ basilar kyphosis: < 125 degrees High urine prostaglandin levels - orcid.org/0000-0001-5208-3432 High urine prostaglandin levels + ORCID:0000-0001-5208-3432 @@ -115241,8 +116508,8 @@ basilar kyphosis: < 125 degrees Low blood uric acid levels - orcid.org/0000-0001-5208-3432 Low blood uric acid levels + ORCID:0000-0001-5208-3432 @@ -115603,18 +116870,18 @@ basilar kyphosis: < 125 degrees UMLS:C0239067 human_phenotype - - HPO:probinson - Reduced ability to climb stairs. - - - Difficulty walking up stairs + + HPO:probinson + Reduced ability to climb stairs. + + + @@ -115974,8 +117241,8 @@ basilar kyphosis: < 125 degrees - PMID:10524488 An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. + PMID:10524488 @@ -116196,18 +117463,18 @@ basilar kyphosis: < 125 degrees human_phenotype High bili total - - High bili total - - - - HPO:probinson Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. + + High bili total + + + + @@ -116301,18 +117568,18 @@ basilar kyphosis: < 125 degrees UMLS:C2752013 human_phenotype - - HPO:curators - Prenatal onset - - - A phenotypic abnormality that is present at birth. HPO:probinson + + HPO:curators + Prenatal onset + + + @@ -116397,18 +117664,18 @@ basilar kyphosis: < 125 degrees human_phenotype Gradual onset - - Gradual, very slow onset of disease manifestations. - HPO:probinson - - - Gradual onset + + Gradual, very slow onset of disease manifestations. + HPO:probinson + + + @@ -116448,12 +117715,6 @@ basilar kyphosis: < 125 degrees UMLS:C1848924 human_phenotype - - HPO:probinson - Onset of signs or symptoms of disease between 28 days to one year of life. - - - Onset in infancy @@ -116472,6 +117733,12 @@ basilar kyphosis: < 125 degrees + + HPO:probinson + Onset of signs or symptoms of disease between 28 days to one year of life. + + + @@ -116714,7 +117981,7 @@ basilar kyphosis: < 125 degrees High urine trimethylamine levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -116791,18 +118058,18 @@ basilar kyphosis: < 125 degrees UMLS:C1855106 human_phenotype - - HPO:probinson - Onset of signs or symptoms of disease within the first 28 days of life. - - - Neonatal onset + + HPO:probinson + Onset of signs or symptoms of disease within the first 28 days of life. + + + @@ -116840,6 +118107,13 @@ basilar kyphosis: < 125 degrees human_phenotype Absent muscles since birth + + Absent muscles since birth + ORCID:0000-0001-5208-3432 + + + + Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. HPO:probinson @@ -116847,13 +118121,6 @@ basilar kyphosis: < 125 degrees - - orcid.org/0000-0001-5208-3432 - Absent muscles since birth - - - - @@ -116902,17 +118169,17 @@ basilar kyphosis: < 125 degrees - Loss of fat tissue below the skin in limbs - orcid.org/0000-0001-5208-3432 + Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. + HPO:probinson - - + - HPO:probinson - Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. + ORCID:0000-0001-5208-3432 + Loss of fat tissue below the skin in limbs - + + @@ -117064,7 +118331,7 @@ basilar kyphosis: < 125 degrees Hemoglobin in urine - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Hemoglobin in urine @@ -117273,19 +118540,19 @@ basilar kyphosis: < 125 degrees human_phenotype High urine lactic acid levels - - orcid.org/0000-0001-5208-3432 - High urine lactic acid levels - - - - An increased concentration of lactic acid in the urine. HPO:probinson + + ORCID:0000-0001-5208-3432 + High urine lactic acid levels + + + + @@ -117587,18 +118854,18 @@ basilar kyphosis: < 125 degrees - - A decreased concentration of methionine in the blood. - HPO:gcarletti - - - Decreased plasma methionine + + A decreased concentration of methionine in the blood. + HPO:gcarletti + + + @@ -117647,7 +118914,7 @@ basilar kyphosis: < 125 degrees Onset - + Adolescent is defined by WHO as a person between 10-19 years of age. Age of onset HP:0003588 @@ -117736,7 +119003,7 @@ basilar kyphosis: < 125 degrees Pace of progression - + HP:0003679 UMLS:C4025580 human_phenotype @@ -117900,10 +119167,10 @@ basilar kyphosis: < 125 degrees human_phenotype - HPO:sdoelken - Reduced strength and weakness of the muscles of the arms and legs. + Limb muscle weakness - + + Limb weakness @@ -117912,10 +119179,10 @@ basilar kyphosis: < 125 degrees - Limb muscle weakness + HPO:sdoelken + Reduced strength and weakness of the muscles of the arms and legs. - - + @@ -117943,7 +119210,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Winged shoulder blade @@ -117996,16 +119263,16 @@ basilar kyphosis: < 125 degrees Distal muscle degeneration - HPO:curators - Muscular atrophy affecting muscles in the distal portions of the extremities. + ORCID:0000-0001-5208-3432 + Distal muscle degeneration - + - Distal muscle degeneration - orcid.org/0000-0001-5208-3432 + HPO:curators + Muscular atrophy affecting muscles in the distal portions of the extremities. - + Distal muscle wasting @@ -118083,7 +119350,7 @@ basilar kyphosis: < 125 degrees Absent end part of the outermost bone of the pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the outermost bone of the pinkie finger @@ -118096,15 +119363,15 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 Absent end part of the outermost bone of the pinky finger + ORCID:0000-0001-5208-3432 Absent end part of the outermost bone of the little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -118206,11 +119473,10 @@ basilar kyphosis: < 125 degrees Generalized muscle degeneration - Generalized muscle degeneration - orcid.org/0000-0001-5208-3432 + Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. + HPO:probinson - - + Diffuse skeletal muscle wasting @@ -118219,10 +119485,11 @@ basilar kyphosis: < 125 degrees - Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. - HPO:probinson + ORCID:0000-0001-5208-3432 + Generalized muscle degeneration - + + Muscle atrophy, generalized @@ -118258,18 +119525,18 @@ basilar kyphosis: < 125 degrees human_phenotype Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. - - Proximal neurogenic muscle weakness - - - - A lack of strength of the proximal muscles. HPO:probinson + + Proximal neurogenic muscle weakness + + + + @@ -118326,13 +119593,13 @@ basilar kyphosis: < 125 degrees human_phenotype - Muscle cramps on exertion + Muscle cramps with exertion - Exercise-induced muscle cramps + Muscle cramps following exercise @@ -118344,25 +119611,25 @@ basilar kyphosis: < 125 degrees - Muscle cramps with exertion + Exercise-induced muscle cramps - Muscle cramps following exercise + Exercise-induced muscle cramping - Muscle cramps on exercise + Muscle cramps on exertion - Exercise-induced muscle cramping + Muscle cramps on exercise @@ -118407,18 +119674,18 @@ basilar kyphosis: < 125 degrees Muscle hypertrophy - HPO:curators - Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells). - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased skeletal muscle cells + + HPO:curators + Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells). + + + @@ -118513,7 +119780,7 @@ basilar kyphosis: < 125 degrees Minimal fat below the skin - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -118577,7 +119844,7 @@ basilar kyphosis: < 125 degrees Generalized increase in muscle cell size - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -118628,18 +119895,18 @@ basilar kyphosis: < 125 degrees Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). human_phenotype - - Neck flexion weakness - - - - HPO:curators Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). + + Neck flexion weakness + + + + @@ -118676,18 +119943,18 @@ basilar kyphosis: < 125 degrees UMLS:C1847766 human_phenotype - - Shoulder girdle muscle wasting - - - - Amyotrophy affecting the muscles of the shoulder girdle. HPO:curators + + Shoulder girdle muscle wasting + + + + Shoulder-girdle muscle atrophy @@ -118829,7 +120096,7 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased thigh size @@ -118916,31 +120183,31 @@ basilar kyphosis: < 125 degrees human_phenotype - Muscle pain with exercise + HPO:probinson + The occurrence of an unusually high amount of muscle pain following exercise. - - + - Muscle pain on exercise + Muscle pain, exercise-induced - Muscle pain, exercise-induced + Exercise-induced muscle pain - HPO:probinson - The occurrence of an unusually high amount of muscle pain following exercise. + Muscle pain with exercise - + + - Exercise-induced muscle pain + Muscle pain on exercise @@ -119265,8 +120532,8 @@ basilar kyphosis: < 125 degrees HP:0001002 - orcid.org/0000-0001-5208-3432 Reduced fat tissue below the skin + ORCID:0000-0001-5208-3432 @@ -119306,19 +120573,19 @@ basilar kyphosis: < 125 degrees human_phenotype Underdeveloped lymphatic vessels - - orcid.org/0000-0001-5208-3432 - Underdeveloped lymphatic vessels - - - - Congenital underdevelopment of lymph vessels. HPO:probinson + + ORCID:0000-0001-5208-3432 + Underdeveloped lymphatic vessels + + + + @@ -119333,7 +120600,7 @@ basilar kyphosis: < 125 degrees Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. - HPO:probinson + HPO:probinson Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. @@ -119376,18 +120643,18 @@ basilar kyphosis: < 125 degrees UMLS:C0266393 human_phenotype - - A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. - HPO:probinson - - - Double uterus + + A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. + HPO:probinson + + + @@ -119425,19 +120692,19 @@ basilar kyphosis: < 125 degrees human_phenotype Teeth grinding - - Teeth grinding - orcid.org/0000-0002-0736-9199 - - - - Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. HPO:sdoelken + + ORCID:0000-0002-0736-9199 + Teeth grinding + + + + @@ -119462,19 +120729,19 @@ basilar kyphosis: < 125 degrees human_phenotype Mole - - Mole - orcid.org/0000-0001-6908-9849 - - - - A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. HPO:probinson + + ORCID:0000-0001-6908-9849 + Mole + + + + @@ -119564,50 +120831,50 @@ basilar kyphosis: < 125 degrees False pulp stones - Pulp stones + Pulp denticles + ORCID:0000-0001-5889-4463 - - HPO:ibailleulforestier - Multiple punctate calcifications in the dental pulp. + ORCID:0000-0001-5889-4463 + True denticles - + - orcid.org/0000-0001-5889-4463 False denticles + ORCID:0000-0001-5889-4463 - Pulp denticles - orcid.org/0000-0001-5889-4463 + HPO:ibailleulforestier + Multiple punctate calcifications in the dental pulp. - + - Pulp calcifications - orcid.org/0000-0001-5889-4463 + Pulp stones + - True denticles - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pulp calcifications - + - orcid.org/0000-0001-5889-4463 - False pulp stones + True pulp stones + ORCID:0000-0001-5889-4463 - True pulp stones - orcid.org/0000-0001-5889-4463 + False pulp stones + ORCID:0000-0001-5889-4463 @@ -119639,12 +120906,6 @@ basilar kyphosis: < 125 degrees UMLS:C2316810 human_phenotype - - End-stage renal failure - HPO:skoehler - - - HPO:skoehler Renal failure, endstage @@ -119652,6 +120913,12 @@ basilar kyphosis: < 125 degrees + + A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. + HPO:probinson + + + Stage 5 chronic kidney disease @@ -119659,10 +120926,10 @@ basilar kyphosis: < 125 degrees - A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. - HPO:probinson + End-stage renal failure + HPO:skoehler - + @@ -119682,8 +120949,8 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5889-4463 Flattened and twisted hair + ORCID:0000-0001-5889-4463 @@ -119735,8 +121002,14 @@ basilar kyphosis: < 125 degrees Decreased size of mandibular ramus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased height of mandibular ramus + + + + Decreased size of mandibular ramus + ORCID:0000-0001-5889-4463 @@ -119746,12 +121019,6 @@ basilar kyphosis: < 125 degrees - - Decreased height of mandibular ramus - orcid.org/0000-0001-5889-4463 - - - @@ -119767,14 +121034,14 @@ basilar kyphosis: < 125 degrees Deep antegonial notch of mandible - Large antegonial notch of mandible - orcid.org/0000-0001-5889-4463 + Deep antegonial notch of mandible + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deep antegonial notch of mandible + Large antegonial notch of mandible + ORCID:0000-0001-5889-4463 @@ -119810,26 +121077,26 @@ basilar kyphosis: < 125 degrees - Excessive salivation + Mouth watering - - Excessive production of saliva. - HPO:probinson - - - Oversalivation - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Mouth watering + HPO:probinson + Excessive production of saliva. + + + + + Excessive salivation @@ -119992,8 +121259,8 @@ basilar kyphosis: < 125 degrees - orcid.org/0000-0001-5208-3432 Short middle bones (feet) + ORCID:0000-0001-5208-3432 @@ -120075,18 +121342,18 @@ basilar kyphosis: < 125 degrees Wasting of limb-girdle muscle - HPO:curators - Muscular atrophy affecting the muscles of the limb girdle. - - - - + ORCID:0000-0001-5208-3432 Wasting of limb-girdle muscle - orcid.org/0000-0001-5208-3432 + + HPO:curators + Muscular atrophy affecting the muscles of the limb girdle. + + + @@ -120280,18 +121547,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0410916 human_phenotype - - Neonatal lethal - - - - Death within the first 28 days of life. HPO:probinson + + Neonatal lethal + + + + @@ -120385,18 +121652,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0595939 human_phenotype - - Death of the fetus in utero after at least 20 weeks of gestation. - HPO:probinson - - - Fetal death + + Death of the fetus in utero after at least 20 weeks of gestation. + HPO:probinson + + + Stillbirth @@ -120564,18 +121831,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0037005 human_phenotype - - Shoulder dislocation - - - - A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. HPO:curators + + Shoulder dislocation + + + + @@ -120613,7 +121880,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Partial shoulder dislocation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -120651,8 +121918,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Calcification of the soft-tissue around the shoulders + ORCID:0000-0001-5208-3432 Calcification of the soft-tissue around the shoulders - orcid.org/0000-0001-5208-3432 @@ -120711,8 +121978,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality involving the epiphyses of the upper limbs + ORCID:0000-0001-5208-3432 Abnormal shape of end part of upper limb long bones - orcid.org/0000-0001-5208-3432 @@ -120735,7 +122002,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Delayed maturation fo the end part of the upper limb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -120791,8 +122058,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Fragmented end part of upper limb bones + ORCID:0000-0001-5208-3432 Fragmented end part of upper limb bones - orcid.org/0000-0001-5208-3432 @@ -120842,8 +122109,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular end part of upper limb bones + ORCID:0000-0001-5208-3432 Irregular end part of upper limb bones - orcid.org/0000-0001-5208-3432 @@ -120892,8 +122159,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Round end part of upper limb bones + ORCID:0000-0001-5208-3432 Round end part of upper limb bones - orcid.org/0000-0001-5208-3432 @@ -120943,7 +122210,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small end part of upper limb bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of upper limb bones @@ -120994,8 +122261,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broad growth plates of upper limbs - orcid.org/0000-0001-5208-3432 Broad growth plates of upper limbs + ORCID:0000-0001-5208-3432 @@ -121015,8 +122282,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cupped wide portion of the upper limb bone + ORCID:0000-0001-5208-3432 Cupped wide portion of the upper limb bone - orcid.org/0000-0001-5208-3432 @@ -121057,19 +122324,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. Flared wide portion of the upper limb bone - - Flared wide portion of the upper limb bone - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. + + Flared wide portion of the upper limb bone + ORCID:0000-0001-5208-3432 + + + + @@ -121117,7 +122384,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular wide portion of upper limb bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -121172,8 +122439,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased bone density in wide portion of the upper limb bones - orcid.org/0000-0001-5208-3432 Increased bone density in wide portion of the upper limb bones + ORCID:0000-0001-5208-3432 @@ -121193,8 +122460,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Spurred wide portion of upper limb bone - orcid.org/0000-0001-5208-3432 Spurred wide portion of upper limb bone + ORCID:0000-0001-5208-3432 @@ -121246,7 +122513,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broad wide portion of upper limb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad wide portion of upper limb bone @@ -121337,19 +122604,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Increased bone density in central part of long bone of upper limbs - - An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. - HPO:probinson - - - Increased bone density in central part of long bone of upper limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. + HPO:probinson + + + @@ -121396,7 +122663,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide shaft of long bone of the upper limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad shaft of long bone of the upper limbs @@ -121404,7 +122671,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide shaft of long bone of the upper limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -121427,8 +122694,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Absent long bone in upper arm - orcid.org/0000-0001-5208-3432 @@ -121453,8 +122720,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Angulated long bone in upper arm + ORCID:0000-0001-5208-3432 Angulated long bone in upper arm - orcid.org/0000-0001-5208-3432 @@ -121494,18 +122761,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Notched long bone in upper arm - Clefting affecting the humerus. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Notched long bone in upper arm + ORCID:0000-0001-5208-3432 + + Clefting affecting the humerus. + HPO:curators + + + @@ -121544,19 +122811,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bowed long bone in upper arm - - orcid.org/0000-0001-5208-3432 - Bowed long bone in upper arm - - - - A bending or abnormal curvature of the humerus. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bowed long bone in upper arm + + + + @@ -121643,7 +122910,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Crumpled long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Crumpled long bone in upper arm @@ -121683,7 +122950,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Deformed long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Deformed long bone in upper arm @@ -121813,8 +123080,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w False joint (long bone in upper arm) + ORCID:0000-0001-5208-3432 False joint (long bone in upper arm) - orcid.org/0000-0001-5208-3432 @@ -121879,7 +123146,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased bone density in long bone of upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -121919,19 +123186,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Slender long bone of upper arm - - orcid.org/0000-0001-5208-3432 - Slender long bone of upper arm - - - - HPO:probinson Reduction in diameter of the humerus. + + ORCID:0000-0001-5208-3432 + Slender long bone of upper arm + + + + @@ -121966,8 +123233,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Tapered long bone of upper arm + ORCID:0000-0001-5208-3432 Tapered long bone of upper arm - orcid.org/0000-0001-5208-3432 @@ -122007,7 +123274,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Triangular long bone of upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -122060,8 +123327,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide long bone of upper arm + ORCID:0000-0001-5208-3432 Wide long bone of upper arm - orcid.org/0000-0001-5208-3432 @@ -122101,7 +123368,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal head of long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -122141,7 +123408,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Flattended head of long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -122253,7 +123520,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of end part of the long bone of the upper arm @@ -122306,19 +123573,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Absent maturation of end part of long bone in upper arm - - orcid.org/0000-0001-5208-3432 - Absent maturation of end part of long bone in upper arm - - - - HPO:probinson Lack of formation of bone in the epiphysis of the humerus. + + Absent maturation of end part of long bone in upper arm + ORCID:0000-0001-5208-3432 + + + + @@ -122367,7 +123634,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Accelerated maturation of end part of long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Accelerated maturation of end part of long bone in upper arm @@ -122426,19 +123693,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Delayed maturation of the end part of the long bone in upper arm - - Delayed maturation of the end part of the long bone in upper arm - http://orcid.org/0000-0001-5208-3432 - - - - A delay in the process of formation and maturation of the humeral epiphysis. HPO:probinson + + ORCID:0000-0001-5208-3432 + Delayed maturation of the end part of the long bone in upper arm + + + + @@ -122474,8 +123741,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Flattened end part of long bone in upper arm + ORCID:0000-0001-5208-3432 Flattened end part of long bone in upper arm - orcid.org/0000-0001-5208-3432 @@ -122515,7 +123782,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular end part of long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of long bone in upper arm @@ -122568,8 +123835,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular maturation of the end part of the long bone in upper arm - http://orcid.org/0000-0001-5208-3432 Irregular maturation of the end part of the long bone in upper arm + ORCID:0000-0001-5208-3432 @@ -122609,8 +123876,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Large end part of long bone in upper arm - orcid.org/0000-0001-5208-3432 Large end part of long bone in upper arm + ORCID:0000-0001-5208-3432 @@ -122650,8 +123917,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Round end part of long bone in upper arm + ORCID:0000-0001-5208-3432 Round end part of long bone in upper arm - orcid.org/0000-0001-5208-3432 @@ -122692,7 +123959,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small end part of long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -122810,19 +124077,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Wide end part of long bone in upper arm - - Wide end part of long bone in upper arm - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Increased width of the humeral epiphysis. + + Wide end part of long bone in upper arm + ORCID:0000-0001-5208-3432 + + + + @@ -122869,8 +124136,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide end part of upper limb bones + ORCID:0000-0001-5208-3432 Wide end part of upper limb bones - orcid.org/0000-0001-5208-3432 @@ -122921,7 +124188,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of arm long bone growth plate - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -122974,7 +124241,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide long bone of arm growth plate - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide long bone of arm growth plate @@ -123021,7 +124288,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the wide portion of the long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the wide portion of the long bone in upper arm @@ -123040,8 +124307,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Metaphyseal corner fracture A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure. - Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. Bucket handle fracture + Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. PMID:20544318 @@ -123099,7 +124366,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Enlarged wide portion of long bone of upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -123150,8 +124417,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Flared wide portion of long bone of upper arm - orcid.org/0000-0001-5208-3432 @@ -123204,8 +124471,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular wide portion of long bone in upper arm - orcid.org/0000-0001-5208-3432 Irregular wide portion of long bone in upper arm + ORCID:0000-0001-5208-3432 @@ -123256,7 +124523,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular bone maturation of the wide portion of the long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -123322,8 +124589,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Pointed wide portion of long bone of upper arm + ORCID:0000-0001-5208-3432 Pointed wide portion of long bone of upper arm - orcid.org/0000-0001-5208-3432 @@ -123343,15 +124610,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Stiffening of wide portion of long bone of upper arm - orcid.org/0000-0001-5208-3432 - Stiffening of wide portion of long bone of upper arm + Hardening of wide portion of long bone of upper arm + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Hardening of wide portion of long bone of upper arm + Stiffening of wide portion of long bone of upper arm + ORCID:0000-0001-5208-3432 @@ -123402,7 +124669,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Sloping metaphysis of long bone of upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Sloping metaphysis of long bone of upper arm @@ -123422,7 +124689,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Laterally sloping metaphysis of long bone of upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Laterally sloping metaphysis of long bone of upper arm @@ -123442,8 +124709,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Spurred metaphysis of long bone of upper arm + ORCID:0000-0001-5208-3432 Spurred metaphysis of long bone of upper arm - orcid.org/0000-0001-5208-3432 @@ -123482,7 +124749,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Square metaphysis of long bone of upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Square metaphysis of long bone of upper arm @@ -123502,8 +124769,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Speckled calcification in metaphysis of long bone of upper arm - orcid.org/0000-0001-5208-3432 Speckled calcification in metaphysis of long bone of upper arm + ORCID:0000-0001-5208-3432 @@ -123550,8 +124817,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Abnormality of shaft of long bone in upper arm - orcid.org/0000-0001-5208-3432 @@ -123699,8 +124966,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased bone density in shaft of long bone in upper arm + ORCID:0000-0001-5208-3432 Increased bone density in shaft of long bone in upper arm - orcid.org/0000-0001-5208-3432 @@ -123739,7 +125006,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Slender shaft of long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Slender shaft of long bone in upper arm @@ -123782,13 +125049,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide shaft of long bone in upper arm Broad shaft of long bone in upper arm - - orcid.org/0000-0001-5208-3432 - Wide shaft of long bone in upper arm - - - - HPO:probinson Increased width of the humeral diaphysis. @@ -123797,7 +125057,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broad shaft of long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Wide shaft of long bone in upper arm @@ -123817,7 +125084,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bone fusion involving the elbow - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bone fusion involving the elbow @@ -124038,7 +125305,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of end part of the elbow bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of end part of the elbow bone @@ -124089,19 +125356,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Delayed maturation of the end part of the elbow bone - - orcid.org/0000-0001-5208-3432 - Delayed maturation of the end part of the elbow bone - - - - A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. HPO:probinson + + Delayed maturation of the end part of the elbow bone + ORCID:0000-0001-5208-3432 + + + + @@ -124148,7 +125415,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular end part of the elbow bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -124188,7 +125455,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal wide portion of elbow bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal wide portion of elbow bone @@ -124237,8 +125504,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Irregular wide portion of elbow bone + ORCID:0000-0001-5208-3432 @@ -124357,18 +125624,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. - - A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. - HPO:probinson - - - Bone-in-a-bone appearance of forearm + + HPO:probinson + A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. + + + @@ -124404,18 +125671,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4025481 human_phenotype - - Bowed forearm bones - - - - A bending or abnormal curvature affecting either the radius, the ulna, or both. HPO:probinson + + Bowed forearm bones + + + + @@ -124649,8 +125916,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased bone density of forearm bones - orcid.org/0000-0001-5208-3432 Increased bone density of forearm bones + ORCID:0000-0001-5208-3432 @@ -124740,18 +126007,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Broad forearm bones - - - - Abnormally wide bone of the skeleton of forearm. HPO:probinson + + Broad forearm bones + + + + @@ -125057,18 +126324,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - - HPO:probinson - Missing ulna bone associated with congenital failure of development. - - - Absent ulnae HPO:skoehler + + HPO:probinson + Missing ulna bone associated with congenital failure of development. + + + @@ -125445,12 +126712,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype An injury of the wrist with displacement of any of the eight carpal bones. - - Dislocated wrist - - - - Dislocation of wrist MEDDRA:10013184 @@ -125469,6 +126730,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Dislocated wrist + + + + @@ -126126,8 +127393,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broadening of the distal radius - The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. HPO:probinson + The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. @@ -126167,8 +127434,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregularity of the normally smooth surface of the metaphysis of the radius. - Irregularity of the normally smooth surface of the metaphysis of the radius. HPO:probinson + Irregularity of the normally smooth surface of the metaphysis of the radius. @@ -127067,18 +128334,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Accelerated maturation of hand bones - HPO:probinson - Ossification of hand bones at an earlier age than normal. - - - - + ORCID:0000-0001-5208-3432 Accelerated maturation of hand bones - http://orcid.org/0000-0001-5208-3432 + + HPO:probinson + Ossification of hand bones at an earlier age than normal. + + + @@ -127125,18 +128392,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4021686 human_phenotype - - Delayed maturation of the hand bones - - - - HPO:probinson Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. + + Delayed maturation of the hand bones + + + + @@ -127243,8 +128510,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Increased bone density in hand bone - orcid.org/0000-0001-5208-3432 @@ -127298,18 +128565,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Radial dysplasia - - http://orcid.org/0000-0001-6908-9849 - Radial dysplasia - - - HPO:probinson Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. + + ORCID:0000-0001-6908-9849 + Radial dysplasia + + + @@ -127492,11 +128759,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Finger overgrowth - HPO:sdoelken + Macrodactyly + MEDDRA:10025386 - - + Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. @@ -127505,10 +128771,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Macrodactyly - MEDDRA:10025386 + Finger overgrowth + HPO:sdoelken - + + @@ -127544,18 +128811,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4021683 human_phenotype - - Abnormality of index finger - - - - An anomaly of the second finger, also known as the index finger. HPO:probinson + + Abnormality of index finger + + + + @@ -127591,8 +128858,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Central nasal groove - orcid.org/0000-0001-5889-4463 @@ -127638,48 +128905,48 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Central nasal defect - orcid.org/0000-0001-5889-4463 - Central cleft of nose + ORCID:0000-0001-5889-4463 + Central defect of nose - - + - Midline nasal defect - orcid.org/0000-0001-5889-4463 + Midline cleft of nose + ORCID:0000-0001-5889-4463 - + + - Midline defect of the nose + ORCID:0000-0001-5889-4463 + Central cleft of nose - + - orcid.org/0000-0001-5889-4463 - Central defect of nose + HPO:sdoelken + This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. - + - orcid.org/0000-0001-5889-4463 - Midline cleft of nose + ORCID:0000-0001-5889-4463 + Midline nasal defect - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Central nasal defect - HPO:sdoelken - This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. + Midline defect of the nose - + + @@ -127711,7 +128978,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Dimpled tip of nose @@ -127890,8 +129157,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal middle finger bone of the middle finger + ORCID:0000-0001-6908-9849 Abnormal middle finger bone of the middle finger - orcid.org/0000-0001-6908-9849 @@ -127965,8 +129232,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Short outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 @@ -128186,19 +129453,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Fused ring finger bones - - Fused ring finger bones - http://orcid.org/0000-0001-5208-3432 - - - - Fusion of two or more bones of the 4th finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Fused ring finger bones + + + + @@ -128280,27 +129547,27 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the pinky finger - Abnormality of the pinkie finger - orcid.org/0000-0001-5208-3432 + An abnormality affecting one or both 5th fingers. + HPO:sdoelken - - + - Abnormality of the little finger + Abnormality of the pinkie finger + ORCID:0000-0001-5208-3432 - An abnormality affecting one or both 5th fingers. - HPO:sdoelken + ORCID:0000-0001-5208-3432 + Abnormality of the pinky finger - + + - orcid.org/0000-0001-5208-3432 - Abnormality of the pinky finger + Abnormality of the little finger @@ -128363,22 +129630,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 - Curvature of pinkie finger + Curvature of pinky finger + ORCID:0000-0001-5208-3432 - Curvature of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Curvature of little finger - orcid.org/0000-0001-5208-3432 - Curvature of little finger + Curvature of pinkie finger + ORCID:0000-0001-5208-3432 @@ -128421,32 +129688,32 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the pinkie finger bone + Abnormality of the phalanges of the 5th (little) finger. + HPO:sdoelken + + + + + ORCID:0000-0001-5208-3432 Abnormality of the pinky finger bone - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Abnormality of the little finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the pinkie finger bone - - Abnormality of the phalanges of the 5th (little) finger. - HPO:sdoelken - - - @@ -128487,13 +129754,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Curved little finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved pinky finger bone @@ -128507,7 +129774,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Curved pinkie finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -128597,31 +129864,31 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Fused pinkie finger bones - orcid.org/0000-0001-5208-3432 - Fused little finger bones + ORCID:0000-0001-5208-3432 + Fused pinkie finger bones - Fused pinkie finger bones - orcid.org/0000-0001-5208-3432 + Fusion of two or more bones of the 5th finger. + HPO:curators - - + - Fused pinky finger bones - orcid.org/0000-0001-5208-3432 + Fused little finger bones + ORCID:0000-0001-5208-3432 - Fusion of two or more bones of the 5th finger. - HPO:curators + ORCID:0000-0001-5208-3432 + Fused pinky finger bones - + + @@ -128659,22 +129926,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the middle bone of pinkie finger - orcid.org/0000-0001-5208-3432 - Abnormality of the middle bone of little finger + Abnormality of the middle bone of pinkie finger + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 - Abnormality of the middle bone of pinkie finger + ORCID:0000-0001-5208-3432 + Abnormality of the middle bone of pinky finger - orcid.org/0000-0001-5208-3432 - Abnormality of the middle bone of pinky finger + ORCID:0000-0001-5208-3432 + Abnormality of the middle bone of little finger @@ -128732,12 +129999,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short middle bone of the pinky finger Short middle bone of the little finger Hypoplastic middle phalanx of the 5th finger - Short middle bone of the pinkie finger Type A3 brachydactyly + Short middle bone of the pinkie finger - Short middle bone of the pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Short middle bone of the pinky finger @@ -128750,15 +130017,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Short middle bone of the pinky finger - orcid.org/0000-0001-5208-3432 + Short middle bone of the little finger + ORCID:0000-0001-5208-3432 - Short middle bone of the little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Short middle bone of the pinkie finger @@ -128814,30 +130081,30 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cone-shaped end part of the outermost pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. - HPO:curators + Cone-shaped end part of the outermost pinkie finger bone + ORCID:0000-0001-5208-3432 - + + + ORCID:0000-0001-5208-3432 Cone-shaped end part of the outermost little finger bone - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the outermost pinkie finger bone + A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. + HPO:curators - - + @@ -128891,8 +130158,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased bone density of end part of the outermost pinky finger bone - Increased bone density of end part of the outermost little finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the outermost pinkie finger bone @@ -128904,15 +130171,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Increased bone density of end part of the outermost pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the outermost little finger bone - orcid.org/0000-0001-5208-3432 - Increased bone density of end part of the outermost pinkie finger bone + Increased bone density of end part of the outermost pinky finger bone + ORCID:0000-0001-5208-3432 @@ -128966,31 +130233,31 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the end part of middle pinkie finger bone - orcid.org/0000-0001-5208-3432 - Abnormality of the end part of middle pinky finger bone + Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. + HPO:curators - - + - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of middle little finger bone - orcid.org/0000-0001-5208-3432 - Abnormality of the end part of middle pinkie finger bone + ORCID:0000-0001-5208-3432 + Abnormality of the end part of middle pinky finger bone - Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. - HPO:curators + ORCID:0000-0001-5208-3432 + Abnormality of the end part of middle pinkie finger bone - + + @@ -129030,6 +130297,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the outermost pinky finger bone Abnormality of the outermost pinkie finger bone + + ORCID:0000-0001-5208-3432 + Abnormality of the outermost pinkie finger bone + + + + Abnormality of the distal phalanx of the 5th (little) finger. HPO:curators @@ -129037,22 +130311,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Abnormality of the outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + Abnormality of the outermost little finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Abnormality of the outermost pinky finger bone - - - - - - orcid.org/0000-0001-5208-3432 - Abnormality of the outermost little finger bone + ORCID:0000-0001-5208-3432 @@ -129097,8 +130364,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Curved outermost little finger bone + ORCID:0000-0001-5208-3432 Curved outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + + + + + + Curved outermost pinky finger bone + ORCID:0000-0001-5208-3432 @@ -129110,15 +130384,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Curved outermost little finger bone - - - - - - orcid.org/0000-0001-5208-3432 - Curved outermost pinky finger bone + ORCID:0000-0001-5208-3432 @@ -129167,28 +130434,28 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 - Short outermost pinkie finger bone + HPO:sdoelken + Hypoplastic/small distal phalanx of the fifth finger. - - + - orcid.org/0000-0001-5208-3432 - Short outermost little finger bone + Short outermost pinky finger bone + ORCID:0000-0001-5208-3432 - HPO:sdoelken - Hypoplastic/small distal phalanx of the fifth finger. + Short outermost little finger bone + ORCID:0000-0001-5208-3432 - + + - orcid.org/0000-0001-5208-3432 - Short outermost pinky finger bone + ORCID:0000-0001-5208-3432 + Short outermost pinkie finger bone @@ -129232,30 +130499,30 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Partially dislocated innermost hinge joint of pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Partially dislocated innermost hinge joint of little finger + A partial dislocation of the proximal interphalangeal joint of the little finger. + HPO:sdoelken - - + - orcid.org/0000-0001-5208-3432 Partially dislocated innermost hinge joint of pinky finger + ORCID:0000-0001-5208-3432 - A partial dislocation of the proximal interphalangeal joint of the little finger. - HPO:sdoelken + Partially dislocated innermost hinge joint of little finger + ORCID:0000-0001-5208-3432 - + + @@ -129303,7 +130570,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Missing wrist bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -129315,8 +130582,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Absent wrist bone - orcid.org/0000-0001-5208-3432 @@ -129366,8 +130633,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Extra wrist bones - orcid.org/0000-0001-5208-3432 @@ -129423,18 +130690,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Accelerated wrist bone maturation - HPO:probinson - Ossification of carpal bones at an abnormally early age. - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Accelerated wrist bone maturation + + HPO:probinson + Ossification of carpal bones at an abnormally early age. + + + @@ -129451,7 +130718,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bone-in-a-bone appearance of wrist bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bone-in-a-bone appearance of wrist bones @@ -129478,7 +130745,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Comma-shaped wrist bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -129518,18 +130785,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular wrist bones - Carpal bones with irregular or fragmented margins. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular wrist bones + + Carpal bones with irregular or fragmented margins. + HPO:probinson + + + @@ -129566,19 +130833,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Large wrist bones - - Large wrist bones - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Increased size of carpal bones. + + Large wrist bones + ORCID:0000-0001-5208-3432 + + + + @@ -129640,15 +130907,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hardened spots within wrist bones + ORCID:0000-0001-5208-3432 Hardened spots within wrist bones - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Stiffened spots within wrist bones + ORCID:0000-0001-5208-3432 @@ -129710,8 +130977,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide wrist bones - orcid.org/0000-0001-5208-3432 Wide wrist bones + ORCID:0000-0001-5208-3432 @@ -130358,8 +131625,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Large unciform bone - orcid.org/0000-0001-6908-9849 Large unciform bone + ORCID:0000-0001-6908-9849 @@ -130399,8 +131666,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide unciform bone - orcid.org/0000-0001-6908-9849 Wide unciform bone + ORCID:0000-0001-6908-9849 @@ -130530,7 +131797,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Partial dislocation of small joints of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial dislocation of small joints of hand @@ -130583,16 +131850,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cupped metaphysis of hand bones - orcid.org/0000-0001-6908-9849 - Cupped metaphysis of hand bones + Cupped wide portion of hand bones + ORCID:0000-0001-5208-3432 + - orcid.org/0000-0001-5208-3432 - Cupped wide portion of hand bones + ORCID:0000-0001-6908-9849 + Cupped metaphysis of hand bones - @@ -130640,8 +131907,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Deficient maturation of hand bones + ORCID:0000-0001-5208-3432 Deficient maturation of hand bones - http://orcid.org/0000-0001-5208-3432 @@ -130742,8 +132009,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broken hand bones - http://orcid.org/0000-0001-5208-3432 Broken hand bones + ORCID:0000-0001-5208-3432 @@ -130846,27 +132113,27 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - HPO:probinson - Short palm. - pmid:19125433 + Short palm - + + - Short hands + HPO:skoehler + Short palms - Short palm + HPO:probinson + Short palm. + pmid:19125433 - - + - HPO:skoehler - Short palms + Short hands @@ -130915,7 +132182,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular maturation of hand bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular maturation of hand bones @@ -130955,8 +132222,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased bone density in hand bones + ORCID:0000-0001-5208-3432 Increased bone density in hand bones - orcid.org/0000-0001-5208-3432 @@ -130998,6 +132265,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1857632 human_phenotype + + HPO:skoehler + Narrow hands + + + For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. pmid:19125433 @@ -131010,12 +132283,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - HPO:skoehler - Narrow hands - - - @@ -131115,8 +132382,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Uneven increase in bone density in hand bones - orcid.org/0000-0001-5208-3432 Uneven increase in bone density in hand bones + ORCID:0000-0001-5208-3432 @@ -131288,10 +132555,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Partial knuckle dislocation - orcid.org/0000-0001-6908-9849 - Partial knuckle dislocation + ORCID:0000-0001-6908-9849 + Subluxation of metacarpophalangeal joints - @@ -131301,9 +132567,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Subluxation of metacarpophalangeal joints - orcid.org/0000-0001-6908-9849 + Partial knuckle dislocation + ORCID:0000-0001-6908-9849 + @@ -131349,7 +132616,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the mucous membrane layer of stomach @@ -131402,7 +132669,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of GI blood vessels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of GI blood vessels @@ -131488,18 +132755,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter - - HPO:probinson - The presence of any abnormality affecting the abdominal wall. - - - Abnormality of the abdominal wall + + HPO:probinson + The presence of any abnormality affecting the abdominal wall. + + + @@ -131538,19 +132805,20 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter Herniated abdominal wall + Fyler:4414 - HPO:probinson - The presence of a hernia in the abdominal wall. + ORCID:0000-0001-5208-3432 + Herniated abdominal wall - + - Herniated abdominal wall - orcid.org/0000-0001-5208-3432 + HPO:probinson + The presence of a hernia in the abdominal wall. - + @@ -131658,13 +132926,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Involuntary muscle contractions + Involuntary movements - Involuntary movements + Involuntary muscle contractions @@ -131749,8 +133017,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Thickening of the left ventricle wall with congenital onset. - PMID:154915 Thickening of the left ventricle wall with congenital onset. + PMID:154915 @@ -132247,19 +133515,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Small stature + Short stature - Decreased body height + Small stature - Short stature + Decreased body height @@ -132419,7 +133687,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter - Low body weight + Low weight @@ -132431,19 +133699,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Decreased weight + Weight less than 3rd percentile - Weight less than 3rd percentile + Decreased weight - Low weight + Low body weight @@ -132498,8 +133766,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Wasting syndrome - orcid.org/0000-0001-5208-3432 @@ -132553,14 +133821,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Abnormality of the anterior segment of the globe + Abnormal anterior segment morphology - + @@ -132584,6 +133852,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Abnormality of the anterior segment of the eye Abnormality of the anterior segment of the eyeball + Abnormality of the anterior segment of the globe An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). @@ -132686,11 +133955,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Increased calcification of skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Sclerosis of bones of skull - - + + + + ORCID:0000-0001-5889-4463 + Hyperossification of skull + + An increase in the magnitude or amount of ossification of the skull. @@ -132699,35 +133973,30 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Hyperostosis of skull + ORCID:0000-0001-5889-4463 + Increased calcification of skull - + + - orcid.org/0000-0001-5889-4463 - Hyperossification of skull + Hyperostosis of skull + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased Mineralization of skull - - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Sclerosis of skull - orcid.org/0000-0001-5889-4463 - Sclerosis of bones of skull + ORCID:0000-0001-5889-4463 + Increased Mineralization of skull - + + @@ -132788,42 +134057,42 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Decreased mineralization of skull - orcid.org/0000-0001-5889-4463 + Poorly ossified skull + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Decreased calcification of skull + ORCID:0000-0001-5889-4463 + Hypoossification of skull - - + - orcid.org/0000-0001-5889-4463 - Hypoossification of skull + Decreased mineralization of skull + ORCID:0000-0001-5889-4463 - + + - Ossification defect of skull - orcid.org/0000-0001-5889-4463 + A reduction in the magnitude or amount of ossification of the skull. + HPO:probinson - + - Poorly ossified skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased calcification of skull - + + - A reduction in the magnitude or amount of ossification of the skull. - HPO:probinson + Ossification defect of skull + ORCID:0000-0001-5889-4463 - + @@ -132942,18 +134211,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Skin atrophy - MEDDRA:10040799 - - - - - orcid.org/0000-0001-5208-3432 Skin degeneration + ORCID:0000-0001-5208-3432 + + Skin atrophy + MEDDRA:10040799 + + + HPO:probinson Partial or complete wasting (atrophy) of the skin. @@ -134212,7 +135481,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter - Abnormality of temperature regulation + Poor temperature regulation @@ -134223,18 +135492,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Poor temperature regulation - - - - An abnormality of temperature homeostasis. HPO:probinson + + Abnormality of temperature regulation + + + + @@ -134296,19 +135565,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter - Lowered consciousness + Reduced consciousness/confusion - Disturbances of consciousness + Lowered consciousness - Reduced consciousness/confusion + Disturbances of consciousness @@ -134411,7 +135680,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Nervous system cancer - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -134465,18 +135734,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). - Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). - http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms - - - - + ORCID:0000-0001-5208-3432 Blood tumor - orcid.org/0000-0001-5208-3432 + + Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). + http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms + + + @@ -134632,6 +135901,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0003499 human_phenotype peter + Fyler:1430 A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. @@ -134733,19 +136003,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Underdeveloped left heart - - Underdeveloped left heart - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. + + Underdeveloped left heart + ORCID:0000-0001-5208-3432 + + + + @@ -134763,6 +136033,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter Persistent truncus arteriosus type I + Fyler:0510 + Fyler:510 DDD:dbrown @@ -134931,18 +136203,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter - - A colon of abnormally small caliber. - pmid:3484569 - - - HPO:skoehler Microcolon on contrast enema + + A colon of abnormally small caliber. + pmid:3484569 + + + @@ -135098,19 +136370,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased appetite - No appetite + Decreased appetite - + - Poor appetite + No appetite - + - Decreased appetite + Poor appetite @@ -135155,18 +136427,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Abnormal displacement or malposition of the anus. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Abnormal anus position + ORCID:0000-0001-5208-3432 + + Abnormal displacement or malposition of the anus. + HPO:probinson + + + @@ -135330,18 +136602,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter - - HPO:probinson - Obstruction of the intestine due to abnormally thick meconium. - - - HPO:skoehler Meconium ileus on ultrasonography + + HPO:probinson + Obstruction of the intestine due to abnormally thick meconium. + + + @@ -135394,18 +136666,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter - - An abnormality of the nipple. - HPO:probinson - - - Abnormality of the nipple + + An abnormality of the nipple. + HPO:probinson + + + @@ -135468,15 +136740,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Spontaneous, recurrent nosebleed - orcid.org/0000-0001-5889-4463 - Recurring nosebleed + ORCID:0000-0001-5208-3432 + Spontaneous, recurrent nosebleed - orcid.org/0000-0001-5208-3432 - Spontaneous, recurrent nosebleed + Recurring nosebleed + ORCID:0000-0001-5889-4463 @@ -135538,7 +136810,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Abnormality of the sense of smell + HPO:skoehler + Abnormal sense of smell @@ -135550,8 +136823,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:skoehler - Abnormal sense of smell + Abnormality of the sense of smell @@ -135623,37 +136895,37 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Deviated septum of nose + Deviated nasal septum - Deviated nasal septum + ORCID:0000-0001-5889-4463 + Crooked septum of nose - HPO:probinson - Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. + Deviated septum of nose + ORCID:0000-0001-5889-4463 - + + Crooked nasal septum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Crooked septum of nose - orcid.org/0000-0001-5889-4463 + HPO:probinson + Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. - - + @@ -135695,8 +136967,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of lung artery + ORCID:0000-0001-5208-3432 Abnormality of lung artery - orcid.org/0000-0001-5208-3432 @@ -135743,21 +137015,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0238397 human_phenotype peter + Fyler:1622 Narrowing of lung artery - An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Narrowing of lung artery + + An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. + HPO:probinson + + + @@ -135776,8 +137049,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Premature plaque build-up in arteries + ORCID:0000-0001-5208-3432 Premature plaque build-up in arteries - orcid.org/0000-0001-5208-3432 @@ -135883,18 +137156,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Blood clot in artery - HPO:probinson - The formation of a blood clot inside an artery. - - - - + ORCID:0000-0001-6908-9849 Blood clot in artery - orcid.org/0000-0001-6908-9849 + + HPO:probinson + The formation of a blood clot inside an artery. + + + @@ -135936,18 +137209,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased width of the skull - A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). - HPO:curators - - - - - orcid.org/0000-0001-5889-4463 Decreased width of the skull + ORCID:0000-0001-5889-4463 + + A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). + HPO:curators + + + @@ -136003,18 +137276,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Frontal flattening - - A forehead with abnormal flatness. - HPO:probinson - - - Flat forehead + + A forehead with abnormal flatness. + HPO:probinson + + + Flattened forehead @@ -136023,7 +137296,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Frontal flattening - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -136069,34 +137342,34 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Malformation of the cheeks - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Anomaly of the cheeks + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + Abnormality of the cheeks - + Deformity of the cheeks - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Abnormality of the cheek + Anomaly of the cheeks - + - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - Abnormality of the cheeks + Abnormality of the cheek @@ -136121,29 +137394,29 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Elf-like facial features + + HPO:probinson + This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. + + + Elf-like facial features - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Elf-like facial appearance - orcid.org/0000-0001-5889-4463 - HPO:probinson - This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. - - - - - orcid.org/0000-0001-5889-4463 Leprechaun facies + ORCID:0000-0001-5889-4463 @@ -136209,8 +137482,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. - PMID:24161035 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. + PMID:24161035 @@ -136335,56 +137608,56 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Overgrowth of skull bones - orcid.org/0000-0001-5889-4463 - Hypertrophy of cranial bones + ORCID:0000-0001-5889-4463 + Enlargement of skull bones + - orcid.org/0000-0001-5889-4463 - Overgrowth of skull bones + Excessive growth of skull bones + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Thick skull bones + Overgrowth of skull bones + ORCID:0000-0001-5889-4463 - Excessive growth of the bones of cranium, i.e., of the skull. - HPO:probinson + ORCID:0000-0001-5889-4463 + Hyperostosis of cranial bones - + - Hyperostosis of cranial bones - orcid.org/0000-0001-5889-4463 + Increased ossification of cranial bones + ORCID:0000-0001-5889-4463 - Excessive growth of skull bones - orcid.org/0000-0001-5889-4463 + Thick skull bones + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased ossification of cranial bones + ORCID:0000-0001-5889-4463 + Hypertrophy of cranial bones - + - orcid.org/0000-0001-5889-4463 - Enlargement of skull bones + Excessive growth of the bones of cranium, i.e., of the skull. + HPO:probinson - - + @@ -136437,65 +137710,65 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Thick internal surface of the frontal bone - Hypertrophy of the internal surface of the frontal bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Overgrowth of the inner surface of the frontal bone - + - orcid.org/0000-0001-5889-4463 - Increased ossification of the internal surface of the frontal bone + Hypertrophy of the internal surface of the frontal bone + ORCID:0000-0001-5889-4463 - Bony overgrowth of the internal (endosteal) surface of the frontal bone. - HPO:probinson + ORCID:0000-0001-5889-4463 + Thick internal surface of the frontal bone - + + ORCID:0000-0001-5889-4463 Thick inner surface of the frontal bone - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Enlargement of the inner surface of the frontal bone + ORCID:0000-0001-5889-4463 + Excessive growth of inner surface of the frontal bone - + - orcid.org/0000-0001-5889-4463 - Excessive growth of inner surface of the frontal bone + ORCID:0000-0001-5889-4463 + Hyperostosis of the internal surface of the frontal bone - Overgrowth of the inside of the frontal bone - orcid.org/0000-0001-5889-4463 + Enlargement of the inner surface of the frontal bone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Thick internal surface of the frontal bone + ORCID:0000-0001-5889-4463 + Overgrowth of the inside of the frontal bone - orcid.org/0000-0001-5889-4463 - Hyperostosis of the internal surface of the frontal bone + Increased ossification of the internal surface of the frontal bone + ORCID:0000-0001-5889-4463 - + - Overgrowth of the inner surface of the frontal bone - orcid.org/0000-0001-5889-4463 + Bony overgrowth of the internal (endosteal) surface of the frontal bone. + HPO:probinson - + @@ -136518,16 +137791,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Crouzon syndrome - A characteristic appearance resulting from defective ossification of craniofacial bones. - HPO:probinson + ORCID:0000-0001-5889-4463 + Crouzon syndrome - + - Crouzon syndrome - orcid.org/0000-0001-5889-4463 + A characteristic appearance resulting from defective ossification of craniofacial bones. + HPO:probinson - + @@ -136573,22 +137846,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Coronal suture craniosynostosis - HPO:probinson - Premature closure of the coronal suture of skull. + Coronal suture synostosis + ORCID:0000-0001-5889-4463 - + - Coronal suture synostosis - orcid.org/0000-0001-5889-4463 + HPO:probinson + Premature closure of the coronal suture of skull. - + @@ -136631,8 +137904,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 Sagittal suture synostosis + ORCID:0000-0001-5889-4463 @@ -136684,16 +137957,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - A kind of craniosynostosis affecting the lambdoidal suture. - HPO:probinson + Lambdoid suture synostosis + ORCID:0000-0001-5889-4463 - + - Lambdoid suture synostosis - orcid.org/0000-0001-5889-4463 + A kind of craniosynostosis affecting the lambdoidal suture. + HPO:probinson - + @@ -136763,9 +138036,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Ovalocytosis - https://en.wikipedia.org/wiki/hereditary_elliptocytosis - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Ovalocytosis + https://en.wikipedia.org/wiki/hereditary_elliptocytosis @@ -136887,17 +138160,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Preauricular skin groove - Preauricular skin groove - orcid.org/0000-0001-5889-4463 - - - - - - orcid.org/0000-0001-5889-4463 - Skin groove behind the ear + ORCID:0000-0001-5889-4463 + Preauricular skin sulcus - @@ -136907,14 +138172,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Preauricular skin sulcus + Skin groove behind the ear + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 + Preauricular skin groove + + Skin sulcus behind the ear - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -136935,30 +138208,30 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Postauricular fibroepithelial polyp - orcid.org/0000-0001-5889-4463 + A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 Postauricular fibroepithelial polyp Skin tag behind the ear - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Postauricular acrochordon - orcid.org/0000-0001-5889-4463 - - A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). - HPO:probinson - - - @@ -137153,8 +138426,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 Pit behind the ear + ORCID:0000-0001-5889-4463 @@ -137166,8 +138439,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Postauricular earpits - orcid.org/0000-0001-5889-4463 @@ -137215,7 +138488,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Pit in front of the ear - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -137299,7 +138572,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent cutis congenita of vertex - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent cutis congenita of vertex @@ -137337,63 +138610,63 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased ossification of lower jaw - orcid.org/0000-0001-5889-4463 Excessive growth of mandibular bone + ORCID:0000-0001-5889-4463 - Hyperostosis of lower jaw - orcid.org/0000-0001-5889-4463 + HPO:probinson + Hyperostosis (bony overgrowth) of the mandible. + + + + + Increased ossification of mandibular bone + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thick lower jaw bone - orcid.org/0000-0001-5889-4463 - Increased ossification of lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased ossification of mandible - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Overgrowth of mandibular bone Hyperostosis of mandibular bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - HPO:probinson - Hyperostosis (bony overgrowth) of the mandible. - - - - - orcid.org/0000-0001-5889-4463 - Increased ossification of mandibular bone + ORCID:0000-0001-5889-4463 + Hyperostosis of lower jaw + ORCID:0000-0001-5889-4463 Thick mandibular bone - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased ossification of mandible + ORCID:0000-0001-5889-4463 + Increased ossification of lower jaw @@ -137422,7 +138695,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Front fontanelle stays open @@ -137442,16 +138715,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent cutis congenita over parietal area - A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. - HPO:curators + ORCID:0000-0001-5208-3432 + Absent cutis congenita over parietal area - + - Absent cutis congenita over parietal area - orcid.org/0000-0001-5208-3432 + A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. + HPO:curators - + @@ -137534,9 +138807,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Progressively abnormally enlarging skull Progressively abnormally enlarging cranium + + Progressively abnormally enlarging cranium + ORCID:0000-0001-5889-4463 + + + + Progressively abnormally enlarging skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -137547,13 +138827,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - orcid.org/0000-0001-5889-4463 - Progressively abnormally enlarging cranium - - - - @@ -137593,18 +138866,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1849075 human_phenotype - - Relatively large head - - - - A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. HPO:curators + + Relatively large head + + + + @@ -137643,16 +138916,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Malformation of craniofacial shape Abnormality of craniofacial shape - - orcid.org/0000-0001-5889-4463 - Malformation of craniofacial shape - - - - Abnormality of craniofacial shape - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -137664,8 +138930,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of craniofacial shape + + + + + Uneven craniofacial structures + ORCID:0000-0001-5889-4463 @@ -137687,30 +138960,30 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cranium stopped growing - HPO:orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - HPO:orcid.org/0000-0001-5889-4463 Head stopped growing + ORCID:0000-0001-5889-4463 - - Skull stopped growing - HPO:orcid.org/0000-0001-5889-4463 - - - - HPO:probinson Stagnation of head growth seen as flattening of the head circumference curve. + + ORCID:0000-0001-5889-4463 + Skull stopped growing + + + + @@ -137754,123 +139027,123 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Big cranium present at birth Congenital macrocephaly Big head present at birth - Big skull present since birth Big cranium present since birth - Congenital large cranium + Big skull present since birth Large cranium present since birth + Congenital large cranium Large head present since birth Big head present since birth - Large skull present since birth - http://orcid.org/0000-0001-5889-4463 + HPO:probinson + The presence of an abnormally large skull with onset at birth. - - + - Big head present since birth - http://orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Large skull present at birth - + - Large head present since birth - http://orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Big cranium present at birth - - + - http://orcid.org/0000-0001-5889-4463 - Big head present at birth + Large head present at birth + ORCID:0000-0001-5889-4463 - Congenital large head - http://orcid.org/0000-0001-5889-4463 + + Congenital macrocephaly - - + - Big cranium present since birth - http://orcid.org/0000-0001-5889-4463 + Congenital large cranium + ORCID:0000-0001-5889-4463 - Big cranium present at birth - http://orcid.org/0000-0001-5889-4463 + Big skull present since birth + ORCID:0000-0001-5889-4463 + - Large skull present at birth - http://orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Congenital large skull - - HPO:probinson - The presence of an abnormally large skull with onset at birth. + Big skull present at birth + ORCID:0000-0001-5889-4463 - + + + ORCID:0000-0001-5889-4463 Large cranium present since birth - http://orcid.org/0000-0001-5889-4463 - Big skull present at birth - http://orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Congenital large head - + - Congenital macrocephaly - + ORCID:0000-0001-5889-4463 + Big head present since birth - + + - Large cranium present at birth - http://orcid.org/0000-0001-5889-4463 + Large head present since birth + ORCID:0000-0001-5889-4463 - + + - http://orcid.org/0000-0001-5889-4463 - Congenital large skull + Big head present at birth + ORCID:0000-0001-5889-4463 - + + - http://orcid.org/0000-0001-5889-4463 - Large head present at birth + ORCID:0000-0001-5889-4463 + Large skull present since birth - + - Congenital large cranium - http://orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Big cranium present since birth - Big skull present since birth - http://orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Large cranium present at birth - @@ -137919,57 +139192,57 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Overgrowth of skullcap - Thick calvarial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Excessive growth of calvarial bones - orcid.org/0000-0001-5889-4463 - Increased ossification of calvarial bones - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Overgrowth of skullcap - Overgrowth of calvarial bones - orcid.org/0000-0001-5889-4463 + Hypertrophy of calvarial bones + ORCID:0000-0001-5889-4463 - Excessive growth of calvarial bones - orcid.org/0000-0001-5889-4463 + Increased ossification of calvarial bones + ORCID:0000-0001-5889-4463 + + + + + Thick calvarial bones + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hyperostosis of calvarial bones + Excessive growth of the calvaria. + HPO:probinson - + + ORCID:0000-0001-5889-4463 Enlargement of calvarial bones - orcid.org/0000-0001-5889-4463 - Excessive growth of the calvaria. - HPO:probinson + ORCID:0000-0001-5889-4463 + Hyperostosis of calvarial bones - + - orcid.org/0000-0001-5889-4463 - Hypertrophy of calvarial bones + ORCID:0000-0001-5889-4463 + Overgrowth of calvarial bones @@ -138085,55 +139358,55 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hypertrophy of craniofacial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Hyperostosis of craniofacial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased ossification of craniofacial bones Excessive growth of craniofacial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Thick craniofacial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hyperostosis of craniofacial bones - - + - Enlargement of craniofacial bones - orcid.org/0000-0001-5889-4463 + Overgrowth of craniofacial bones + ORCID:0000-0001-5889-4463 - Increased ossification of craniofacial bones - orcid.org/0000-0001-5889-4463 + Excessive growth of the craniofacial bones. + HPO:probinson - + - Overgrowth of craniofacial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Thick craniofacial bones - Excessive growth of the craniofacial bones. - HPO:probinson + ORCID:0000-0001-5889-4463 + Enlargement of craniofacial bones - + + @@ -138202,7 +139475,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Chronic nasal inflammation due to narrow nasal airway - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Chronic nasal inflammation due to narrow nasal airway @@ -138224,25 +139497,25 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bilateral obstruction of the rear opening of the nasal cavity + Bilateral absence (atresia) of the posterior nasal aperture (choana). + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 Bilateral blockage of the rear opening of the nasal cavity - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Bilateral obstruction of the rear opening of the nasal cavity - - Bilateral absence (atresia) of the posterior nasal aperture (choana). - HPO:probinson - - - @@ -138323,39 +139596,39 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Long eyebrows UMLS:C3280131 human_phenotype - Elongated eyebrow Increased transverse length of eyebrow + Elongated eyebrow Increased horizontal length of eyebrow - orcid.org/0000-0001-5889-4463 - Increased horizontal length of eyebrow + Long eyebrows - HPO:probinson - Increased length of the hairs of the eyebrows. - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Elongated eyebrow + HPO:probinson + Increased length of the hairs of the eyebrows. + + + + + ORCID:0000-0001-5889-4463 Increased transverse length of eyebrow - orcid.org/0000-0001-5889-4463 - Long eyebrows + Increased horizontal length of eyebrow + ORCID:0000-0001-5889-4463 @@ -138374,19 +139647,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Reduced hair growth in temporal region - - Reduced hair growth in temporal region - orcid.org/0000-0001-5208-3432 - - - - HPO:curators Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). + + ORCID:0000-0001-5208-3432 + Reduced hair growth in temporal region + + + + @@ -138522,7 +139795,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Pointed hairline at front of head - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Pointed hairline at front of head @@ -138544,17 +139817,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cicatricial alopecia - Hair loss on scalp from scarring condition - orcid.org/0000-0001-5889-4463 + Cicatricial alopecia + ORCID:0000-0001-5889-4463 - - + - Cicatricial alopecia - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hair loss on scalp from scarring condition - + + @@ -138693,53 +139966,53 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Dense spinal bone - Compact spinal bone - orcid.org/0000-0001-5889-4463 + Ivory spinal bone + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Ivory spinal bone + Increased density of spinal bone + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 Dense spinal bone - orcid.org/0000-0001-5889-4463 Concrete spinal bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Eburnation of spinal bone + ORCID:0000-0001-5889-4463 - HPO:curators - Increased bone density affecting the bones of the spine (vertebral column). + ORCID:0000-0001-5889-4463 + Sclerosis of spinal bone - + - orcid.org/0000-0001-5889-4463 - Increased density of spinal bone + HPO:curators + Increased bone density affecting the bones of the spine (vertebral column). - - + - orcid.org/0000-0001-5889-4463 - Sclerosis of spinal bone + ORCID:0000-0001-5889-4463 + Compact spinal bone @@ -139213,8 +140486,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small sacrum + ORCID:0000-0001-5208-3432 Small sacrum - orcid.org/0000-0001-5208-3432 @@ -139496,12 +140769,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1860202 human_phenotype - - A lack of ossification of the vertebral bodies. - HPO:probinson - - - HPO:skoehler @@ -139537,6 +140804,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + A lack of ossification of the vertebral bodies. + HPO:probinson + + + @@ -140025,8 +141298,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Inability to touch chin to chest - orcid.org/0000-0001-5889-4463 Inability to touch chin to chest + ORCID:0000-0001-5889-4463 @@ -140066,19 +141339,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Round mid-back - - HPO:probinson - Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. - - - Round mid-back - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + + HPO:probinson + Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. + + + @@ -140169,8 +141442,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Limited neck movement + ORCID:0000-0001-6908-9849 Limited neck movement - orcid.org/0000-0001-6908-9849 @@ -140194,29 +141467,29 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Elevated amniotic fluid alpha fetal protein + Elevated amniotic fluid alpha fetal protein https://en.wikipedia.org/wiki/alpha-fetoprotein - orcid.org/0000-0001-5208-3432 - Elevated amniotic fluid alpha-fetoglobulin + ORCID:0000-0001-5208-3432 - An elevation of alpha-feto protein measured in the amniotic fluid. - HPO:curators + Elevated amniotic fluid alpha-1-fetoprotein + https://en.wikipedia.org/wiki/alpha-fetoprotein + ORCID:0000-0001-5208-3432 - + - orcid.org/0000-0001-5208-3432 - https://en.wikipedia.org/wiki/alpha-fetoprotein - Elevated amniotic fluid alpha fetal protein + An elevation of alpha-feto protein measured in the amniotic fluid. + HPO:curators - + - Elevated amniotic fluid alpha-1-fetoprotein - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 https://en.wikipedia.org/wiki/alpha-fetoprotein + Elevated amniotic fluid alpha-fetoglobulin @@ -140262,43 +141535,43 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hypotrophic nasal bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Small nasal bone + ORCID:0000-0001-5889-4463 - Deficiency of nasal bone - orcid.org/0000-0001-5889-4463 + HPO:probinson + Underdevelopment of the nasal bone. - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of nasal bone - Decreased size of nasal bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deficiency of nasal bone - HPO:probinson - Underdevelopment of the nasal bone. + Decreased size of nasal bone + ORCID:0000-0001-5889-4463 - + + @@ -140353,50 +141626,50 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdevelopment of facial muscles - Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). + ORCID:0000-0001-5889-4463 + Deficiency of facial musculature + + + + + HPO:probinson + Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). - Atrophy of facial musculature - orcid.org/0000-0001-5889-4463 + Small facial muscles + ORCID:0000-0001-5889-4463 - + + - Hypotrophic facial musculature - orcid.org/0000-0001-5889-4463 + Atrophy of facial musculature + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of facial muscles - Small facial muscles - orcid.org/0000-0001-5889-4463 - - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased size of facial muscles - Deficiency of facial musculature - orcid.org/0000-0001-5889-4463 + Hypotrophic facial musculature + ORCID:0000-0001-5889-4463 - - + @@ -140435,13 +141708,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HPO:skoehler Weakness of forehead muscle - - orcid.org/0000-0001-5889-4463 - Weakness of forehead muscle - - - - true @@ -140454,6 +141720,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Weakness of forehead muscle + ORCID:0000-0001-5889-4463 + + + + @@ -140487,18 +141760,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1862474 human_phenotype - - Decreased facial expression - - - - A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. HPO:probinson + + Decreased facial expression + + + + @@ -140545,7 +141818,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Large ankle bones - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Large ankle bones @@ -140569,7 +141842,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Foot crease @@ -140639,19 +141912,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Short 3rd long bone of foot - - http://orcid.org/0000-0001-5208-3432 - Short 3rd long bone of foot - - - - HPO:probinson Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. + + Short 3rd long bone of foot + ORCID:0000-0001-5208-3432 + + + + @@ -140687,7 +141960,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal shape of ankle bones - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -140737,8 +142010,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Short 4th long bone of foot - http://orcid.org/0000-0001-5208-3432 @@ -140852,12 +142125,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w partial or complete syndactyly 2nd-3rd toes Webbed 2nd and 3rd toes - - HPO:sdoelken - Syndactyly with fusion of toes two and three. - - - HPO:skoehler Toe syndactyly, 2-3 @@ -140865,8 +142132,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + HPO:sdoelken + Syndactyly with fusion of toes two and three. + + + + + ORCID:0000-0001-5208-3432 Webbed 2nd and 3rd toes - orcid.org/0000-0001-5208-3432 @@ -140921,7 +142194,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Webbed 4th-5th toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -141039,18 +142312,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short 5th long bone of foot - HPO:probinson - Short (hypoplastic) fifth metatarsal bone. - - - - - http://orcid.org/0000-0001-5208-3432 Short 5th long bone of foot + ORCID:0000-0001-5208-3432 + + HPO:probinson + Short (hypoplastic) fifth metatarsal bone. + + + @@ -141089,18 +142362,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0238210 human_phenotype - - Abnormal rotation of the kidneys - - - - An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. HPO:probinson + + Abnormal rotation of the kidneys + + + + @@ -141117,24 +142390,24 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Reversible kidney failure - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Reversible kidney failure - - Acute renal failure with resolution of manifestations. - HPO:probinson - - - Reversible renal failure + + Acute renal failure with resolution of manifestations. + HPO:probinson + + + @@ -141230,18 +142503,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Calcium kidney stone - HPO:probinson - The presence of calcium-containing calculi (stones) in the kidneys. - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Calcium kidney stone + + HPO:probinson + The presence of calcium-containing calculi (stones) in the kidneys. + + + @@ -141488,6 +142761,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w SNOMEDCT_US:66657009 UMLS:C0030591 human_phenotype + Episodes of ventricular tachycardia + HP:0005141 + Episodes of ventricular tachycardia that have a sudden onset and ending. @@ -141599,6 +142875,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w SNOMEDCT_US:25569003 UMLS:C0042514 human_phenotype + Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease. + Fyler:7160 A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). @@ -141706,20 +142984,28 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0004951 UMLS:C4082954 human_phenotype + Underdeveloped right heart chamber Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. Small right heart chamber - Underdeveloped right heart chamber + Fyler:1821 Heart right ventricle hypoplasia - orcid.org/0000-0001-5208-3432 + Small right heart chamber + ORCID:0000-0001-6908-9849 + + + + + Heart right ventricle hypoplasia + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-6908-9849 - Small right heart chamber + Underdeveloped right heart chamber + ORCID:0000-0001-6908-9849 @@ -141730,13 +143016,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - orcid.org/0000-0001-6908-9849 - Underdeveloped right heart chamber - - - - @@ -141763,7 +143042,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Episodic rapid heart beat @@ -141808,25 +143087,25 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Sparse scalp hair at front of head - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thin scalp hair at front of head - Decreased number of head hairs per unit area on the anterior region of the scalp. - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 Sparse scalp hair at front of head + ORCID:0000-0001-5889-4463 + + Decreased number of head hairs per unit area on the anterior region of the scalp. + HPO:probinson + + + @@ -141885,35 +143164,35 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0004780 UMLS:C4025295 human_phenotype - Hairy elbow syndrome Hairy elbow + Hairy elbow syndrome Hypertrichosis cubiti - orcid.org/0000-0001-6908-9849 - Hairy elbow syndrome + Hypertrichosis cubiti + ORCID:0000-0001-6908-9849 - - Excessive, increased hair growth located in the elbow region. - HPO:probinson + ORCID:0000-0001-6908-9849 + Hairy elbow - + + - orcid.org/0000-0001-6908-9849 - Hypertrichosis cubiti + Hairy elbow syndrome + ORCID:0000-0001-6908-9849 + - orcid.org/0000-0001-6908-9849 - Hairy elbow + Excessive, increased hair growth located in the elbow region. + HPO:probinson - - + @@ -141953,18 +143232,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Reduced/lack of hair on scalp - HPO:curators - Reduced or lacking hair growth of the scalp. - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Reduced/lack of hair on scalp + + HPO:curators + Reduced or lacking hair growth of the scalp. + + + @@ -142141,23 +143420,23 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Milk intolerance - Lactose intolerance + An inability to digest lactose. + HPO:probinson - - + Milk intolerance - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - An inability to digest lactose. - HPO:probinson + Lactose intolerance - + + @@ -142194,19 +143473,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Underdeveloped small intestine - - orcid.org/0000-0001-6908-9849 - Underdeveloped small intestine - - - - HPO:probinson Underdevelopment of the small intestine. + + Underdeveloped small intestine + ORCID:0000-0001-6908-9849 + + + + @@ -142250,11 +143529,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w SNOMEDCT_US:30811009 UMLS:C0151970 human_phenotype - Oesophagus ulceration Esophagus ulcer + Oesophagus ulceration - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Oesophagus ulceration @@ -142266,7 +143545,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Esophagus ulcer @@ -142391,7 +143670,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Obstruction in digestive tract - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -142442,22 +143721,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - HPO:probinson - Recurrent infection of the gastrointestinal tract. - - - - - Gastrointestinal infections + Recurrent gastrointestinal infections - + - Recurrent gastrointestinal infections + HPO:probinson + Recurrent infection of the gastrointestinal tract. - - + Recurrent infection of the gastrointestinal tract @@ -142472,6 +143745,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Gastrointestinal infections + + + + @@ -142738,8 +144017,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Paroxysmal nocturnal haemoglobinuria - orcid.org/0000-0001-5208-3432 Paroxysmal nocturnal haemoglobinuria + ORCID:0000-0001-5208-3432 @@ -142781,7 +144060,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. - NCIT:C7463 + NCIT:C7463 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. @@ -143125,18 +144404,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. AML - - AML - - - - The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. PMID:24904835 + + AML + + + + @@ -143216,7 +144495,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Recurrent deep vein blood clot - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Recurrent deep vein blood clot @@ -143648,8 +144927,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-6908-9849 Muscle weakness between ribs - orcid.org/0000-0001-6908-9849 @@ -143677,7 +144956,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Intermittent overbreathing @@ -143711,15 +144990,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Episodic slow breathing + ORCID:0000-0001-6908-9849 Episodic under breathing - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Episodic slow breathing - orcid.org/0000-0001-6908-9849 @@ -143739,8 +145018,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Episodic difficulty breathing - orcid.org/0000-0001-6908-9849 Episodic difficulty breathing + ORCID:0000-0001-6908-9849 @@ -143829,19 +145108,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w increased pulmonary artery pressure Elevated lung artery pressure - - An abnormally elevated blood pressure in the circulation of the pulmonary artery. - HPO:probinson - - - increased pulmonary artery pressure - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + An abnormally elevated blood pressure in the circulation of the pulmonary artery. + HPO:probinson + + + @@ -143959,12 +145238,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Exercise-induced lactic acidosis - - Exercise-induced lactic acidosis - http://orcid.org/0000-0001-6908-9849 - - - A form of lactic acidemia that occurs following exercise or exertion. HPO:probinson @@ -143972,6 +145245,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + ORCID:0000-0001-6908-9849 + Exercise-induced lactic acidosis + + + @@ -144166,7 +145445,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Recurrent low blood sugar in infant - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Recurrent low blood sugar in infant @@ -144212,18 +145491,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Impaired galactose metabolism - - Impaired galactose metabolism - HPO:skoehler - - - An impairment of galactose metabolism. HPO:probinson + + Impaired galactose metabolism + HPO:skoehler + + + @@ -144540,7 +145819,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the lung blood vessels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the lung blood vessels @@ -144562,19 +145841,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Hardened artery wall in small cerebral arteries - - orcid.org/0000-0001-5208-3432 - Hardened artery wall in small cerebral arteries - - - - Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. HPO:probinson + + Hardened artery wall in small cerebral arteries + ORCID:0000-0001-5208-3432 + + + + @@ -144583,6 +145862,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Ascending aortic dissection + A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. HP:0004933 UMLS:C1836653 @@ -144705,7 +145985,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Blood clot in vein - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -144746,8 +146026,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Twisted cerebral arteries - http://orcid.org/0000-0001-6908-9849 Twisted cerebral arteries + ORCID:0000-0001-6908-9849 @@ -144863,6 +146143,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. Aortic dilatation HP:0001724 + Fyler:2301 + Fyler:2708 @@ -144880,14 +146162,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Accelerated plaque build-up in arteries - Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. Accelerated Atherosclerosis. (n.d.) Segen's Medical Dictionary. (2011). + Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. - orcid.org/0000-0001-5208-3432 Accelerated plaque build-up in arteries + ORCID:0000-0001-5208-3432 @@ -144942,23 +146224,23 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0751003 UMLS:C1290398 human_phenotype - Brain aneurysm Cerebral aneurysm Aneurysm is considered a severe form of dilatation. + Brain aneurysm - - http://orcid.org/0000-0001-6908-9849 - Brain aneurysm - - - - HPO:probinson The presence of a localized dilatation or ballooning of a cerebral artery. + + ORCID:0000-0001-6908-9849 + Brain aneurysm + + + + @@ -144998,8 +146280,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An abnormal connection between an artery and vein. - https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567 An abnormal connection between an artery and vein. + https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567 @@ -145018,18 +146300,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Twisted blood vessels - PMID:22433458 - Abnormal twisting of arteries or veins. - - - - - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Twisted blood vessels + + Abnormal twisting of arteries or veins. + PMID:22433458 + + + @@ -145069,8 +146351,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-6908-9849 Peripheral artery disease - http://orcid.org/0000-0001-6908-9849 @@ -145090,8 +146372,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. - A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. PMID:27122941 + A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. @@ -145135,14 +146417,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Generalized twisted arteries - Arterial tortuosity, general - HPO:skoehler + Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. + HPO:probinson - + + ORCID:0000-0001-6908-9849 Generalized twisted arteries - http://orcid.org/0000-0001-6908-9849 @@ -145154,10 +146436,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. - HPO:probinson + Arterial tortuosity, general + HPO:skoehler - + @@ -145193,6 +146475,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter An abnormal localized widening (dilatation) of the descending thoracic aorta. + Fyler:2754 Dilatation of the descending thoracic aorta HP:0004954 @@ -145241,14 +146524,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-6908-9849 Missing pulmonary artery - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-5208-3432 Absent lung artery - orcid.org/0000-0001-5208-3432 @@ -145409,8 +146692,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Recurrent hemorrhagic stroke + ORCID:0000-0001-6908-9849 Recurrent hemorrhagic stroke - orcid.org/0000-0001-6908-9849 @@ -145439,18 +146722,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Narrowing of peripheral lung artery - HPO:probinson - Stenosis of a peripheral branch of the pulmonary artery. - - - - + ORCID:0000-0001-5208-3432 Narrowing of peripheral lung artery - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Stenosis of a peripheral branch of the pulmonary artery. + + + @@ -145466,8 +146749,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Ascending aortic dilation Aneurysm of the ascending tubular aorta Dilatation of ascending aorta + Fyler:2701 HP:0005128 Aneurysm is considered a severe form of dilatation. + Fyler:2310 Ascending aortic aneurysm Ascending aorta dilation An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. @@ -145507,10 +146792,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Underdeveloped lung artery Underdeveloped pulmonary artery + Fyler:2966 - orcid.org/0000-0001-5208-3432 Underdeveloped lung artery + ORCID:0000-0001-5208-3432 @@ -145523,7 +146809,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped pulmonary artery - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -145541,8 +146827,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. - PMID:18451345 An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. + PMID:18451345 @@ -145603,8 +146889,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Erlenmeyer flask shaped thighbone + ORCID:0000-0001-6908-9849 Erlenmeyer flask shaped thighbone - orcid.org/0000-0001-6908-9849 @@ -145714,18 +147000,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased bone density in wide portion of long bone - Abnormally increased density of metaphyseal bone. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Increased bone density in wide portion of long bone + ORCID:0000-0001-5208-3432 + + Abnormally increased density of metaphyseal bone. + HPO:probinson + + + @@ -145878,7 +147164,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Slender long bones with narrow shaft - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -145995,15 +147281,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped end part of innermost thighbone + ORCID:0000-0001-5208-3432 + Absent/small end part of innermost thighbone - Absent/small end part of innermost thighbone - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped end part of innermost thighbone + ORCID:0000-0001-5208-3432 @@ -146071,7 +147357,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bowing of thighbone at birth, straightening with time - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -146109,19 +147395,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Dumbbell-shaped long bone in upper arm - - orcid.org/0000-0001-5208-3432 - Dumbbell-shaped long bone in upper arm - - - - HPO:probinson The humerus is shortened and displays flaring (widening) of the metaphyses. + + ORCID:0000-0001-5208-3432 + Dumbbell-shaped long bone in upper arm + + + + @@ -146254,8 +147540,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Dislocated elbows on both sides + ORCID:0000-0001-5208-3432 Dislocated elbows on both sides - orcid.org/0000-0001-5208-3432 @@ -146306,14 +147592,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide innermost wide portion of shankbone bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide innermost wide portion of shankbone bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide innermost wide portion of shinbone bone @@ -146376,19 +147662,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Short toe bones - - Short toe bones - orcid.org/0000-0001-5208-3432 - - - - Developmental hypoplasia (shortening) of all phalanges of the foot. HPO:probinson + + Short toe bones + ORCID:0000-0001-5208-3432 + + + + @@ -146509,19 +147795,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Irregular end part of innermost thighbone - - Irregular end part of innermost thighbone - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Irregular surface of the normally relatively smooth capital femoral epiphysis. + + ORCID:0000-0001-5208-3432 + Irregular end part of innermost thighbone + + + + @@ -146619,7 +147905,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Fusion of wrist bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -146676,7 +147962,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0005059 UMLS:C4025256 human_phenotype + Joint pain/Joint inflammation + + Joint pain/Joint inflammation + + + + @@ -146729,8 +148022,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Fragmented, irregular end part of bone - orcid.org/0000-0001-5208-3432 Fragmented, irregular end part of bone + ORCID:0000-0001-5208-3432 @@ -146749,7 +148042,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cone-shaped end part of long bone fused within their wide portion of wide bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of long bone fused within their wide portion of wide bone @@ -146796,8 +148089,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - http://orcid.org/0000-0001-5208-3432 Overgrowth of innermost part of calf bone + ORCID:0000-0001-5208-3432 @@ -146881,7 +148174,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased wrist mobility - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased wrist mobility @@ -147073,7 +148366,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Streak increase in bone density in wide portion of wide bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Streak increase in bone density in wide portion of wide bone @@ -147197,12 +148490,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter - - A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). - HPO:probinson - - - Hearing loss, high-frequency @@ -147210,13 +148497,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - High frequency hearing loss + Progressive high frequency hearing loss - Progressive high frequency hearing loss + A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). + HPO:probinson + + + + + High frequency hearing loss @@ -147306,12 +148599,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter - - true - - - - HPO:probinson Ossification affecting the external ear cartilage. @@ -147320,6 +148607,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + true + + + + @@ -147361,40 +148654,40 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased size of nasal septum - Hypoplasia of septum of nose - orcid.org/0000-0001-5889-4463 + Small septum of nose + ORCID:0000-0001-5889-4463 + - Small nasal septum - orcid.org/0000-0001-5889-4463 + HPO:curators + Underdevelopment of the nasal septum. - - + - Decreased size of septum of nose - orcid.org/0000-0001-5889-4463 + Hypoplasia of septum of nose + ORCID:0000-0001-5889-4463 - - HPO:curators - Underdevelopment of the nasal septum. + ORCID:0000-0001-5889-4463 + Small nasal septum - + + - orcid.org/0000-0001-5889-4463 - Small septum of nose + Decreased size of septum of nose + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased size of nasal septum @@ -147435,33 +148728,34 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter Abnormal of shape of nose + Fyler:4870 Abnormal of morphology of nose Abnormal of nasal shape Abnormal nose morphology - orcid.org/0000-0001-5208-3432 Abnormal nose morphology + ORCID:0000-0001-5208-3432 Abnormal of shape of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormal of nasal shape - orcid.org/0000-0001-5889-4463 Abnormal of morphology of nose + ORCID:0000-0001-5889-4463 @@ -147750,6 +149044,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1851119 human_phenotype peter + Fyler:2706 An abnormal localized widening (dilatation) of the aortic arch. Dilatation of the aortic arch @@ -147782,18 +149077,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter - - A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. - HPO:probinson - - - HPO:skoehler arrhythmias, Supraventricular + + A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. + HPO:probinson + + + @@ -147885,19 +149180,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of cardiac atrium morphology Abnormality of heart atrium - - orcid.org/0000-0001-5208-3432 - Abnormality of heart atrium - - - - Any structural abnormality of a cardiac atrium. HPO:probinson + + Abnormality of heart atrium + ORCID:0000-0001-5208-3432 + + + + @@ -147979,8 +149274,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Compression of the heart caused by rigid, thickened, or fused pericardial membranes. - Compression of the heart caused by rigid, thickened, or fused pericardial membranes. PMID:14966039 + Compression of the heart caused by rigid, thickened, or fused pericardial membranes. @@ -147997,6 +149292,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w SNOMEDCT_US:253522006 UMLS:C0344893 human_phenotype + Fyler:2333 + Fyler:1827 Dilated heart right ventricle @@ -148098,19 +149395,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Episodes of ventricular tachycardia - + obsolete Episodes of ventricular tachycardia HP:0005141 - UMLS:C1832602 - human_phenotype - Abnormal condition in which the ventricles of the heart beat abnormally fast. + true + HP:0004751 - - PMID:14196126 - Abnormal condition in which the ventricles of the heart beat abnormally fast. - - - @@ -148145,9 +149434,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. - The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. PMID:21349577 http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4 + The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. @@ -148188,8 +149477,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal narrowing of the coronary artery. + ORCID:0000-0001-5208-3432 Narrowing of coronary artery - orcid.org/0000-0001-5208-3432 @@ -148345,9 +149634,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Oncocytic cardiomyopathy + PMID:28050600 PMID:21585276 A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. - PMID:28050600 @@ -148397,6 +149686,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0005156 UMLS:C1970625 human_phenotype + Fyler:3040 Left atrium hypoplasia Underdeveloped, small left heart atrium Underdeveloped left heart atrium @@ -148442,6 +149732,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. UMLS:C0036400 human_phenotype + Fyler:0900 + Fyler:900 HPO:probinson @@ -148471,9 +149763,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Impaired left ventricular function + Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the left ventricule is loses its ability to relax completely and cannot fill with blood during rest. http://www.heart.org/HEARTORG/Conditions/HeartFailure/AboutHeartFailure/Types-of-Heart-Failure_UCM_306323_Article.jsp#.WmeKyJM-dL4 PMID:10956313 - Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the left ventricule is loses its ability to relax completely and cannot fill with blood during rest. @@ -148511,8 +149803,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A congenital malformation of the pulmonary valve characterized by leaflet deformation. - PMID:7704986 A congenital malformation of the pulmonary valve characterized by leaflet deformation. + PMID:7704986 @@ -148659,8 +149951,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A congenital malformation of the aortic valve characterized by leaflet deformation. - A congenital malformation of the aortic valve characterized by leaflet deformation. PMID:21349746 + A congenital malformation of the aortic valve characterized by leaflet deformation. @@ -148679,19 +149971,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Premature hardening of arteries - - Premature hardening of arteries - orcid.org/0000-0001-5208-3432 - - - - Arteriosclerosis occuring at an age that is younger than usual. HPO:probinson + + Premature hardening of arteries + ORCID:0000-0001-5208-3432 + + + + @@ -148742,10 +150034,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Tricuspid insufficiency UMLS:C0040961 human_phenotype + Fyler:1161 Tricuspid valve regurgitation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Tricuspid valve regurgitation @@ -148771,16 +150064,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. - Premature coronary artery disease + Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. + PMID:28070240 - - + - PMID:28070240 - Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. + Premature coronary artery disease - + + @@ -148816,6 +150109,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. UMLS:C0344987 human_phenotype + Fyler:1601 HPO:probinson @@ -148837,8 +150131,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An abnormal dilatation of lymph vessels in the pericardium. - PMID:18391124 An abnormal dilatation of lymph vessels in the pericardium. + PMID:18391124 @@ -148875,9 +150169,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. + PMID:7713107 PMID:24173273 A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. - PMID:7713107 @@ -148954,8 +150248,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Dislocated knee since birth + ORCID:0000-0001-5208-3432 Dislocated knee since birth - http://orcid.org/0000-0001-5208-3432 @@ -148987,19 +150281,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Flattened head of long bone of foot - - http://orcid.org/0000-0001-5208-3432 - Flattened head of long bone of foot - - - - Abnormally flat shape of the heads of the metatarsal bones. HPO:probinson + + ORCID:0000-0001-5208-3432 + Flattened head of long bone of foot + + + + @@ -149067,8 +150361,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Stiff hinge joints - http://orcid.org/0000-0001-5208-3432 Stiff hinge joints + ORCID:0000-0001-5208-3432 @@ -149277,18 +150571,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased stomach size - HPO:probinson - Hypertrophy of the stomach. - - - - + ORCID:0000-0001-5208-3432 Increased stomach size - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Hypertrophy of the stomach. + + + @@ -149385,8 +150679,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped colon - orcid.org/0000-0001-5208-3432 Underdeveloped colon + ORCID:0000-0001-5208-3432 @@ -149530,21 +150824,21 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bowel obstruction - Intestinal blockage - orcid.org/0000-0001-5208-3432 + Bowel obstruction + ORCID:0000-0001-5208-3432 - Intestinal obstruction + ORCID:0000-0001-5208-3432 + Intestinal blockage - Bowel obstruction - orcid.org/0000-0001-5208-3432 + Intestinal obstruction @@ -149873,18 +151167,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1868071 human_phenotype - - HPO:probinson - Presence of multiple adenomatous polyps in the colon. - - - Adenomatous polyposis coli MEDDRA:10056981 + + HPO:probinson + Presence of multiple adenomatous polyps in the colon. + + + @@ -150201,7 +151495,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - + HP:0005237 The presence of degenerative changes of the liver. UMLS:C4025230 @@ -150428,8 +151722,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Underdeveloped instestine + ORCID:0000-0001-5208-3432 @@ -150614,15 +151908,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small chest on one side - Underdeveloped chest on one side - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small chest on one side - orcid.org/0000-0001-5208-3432 - Small chest on one side + ORCID:0000-0001-5208-3432 + Underdeveloped chest on one side @@ -150747,13 +152041,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - Small thorax + Small chest - Small chest + Small thorax @@ -150793,15 +152087,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small/absent pec muscle - Small/absent pec muscle - orcid.org/0000-0001-5208-3432 + Underdeveloped/absent pec muscle + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Underdeveloped/absent pec muscle + ORCID:0000-0001-5208-3432 + Small/absent pec muscle @@ -150874,8 +152168,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bleeding within a joint - Bleeding within a joint - orcid.org/0000-0001-5208-3432 + Hemarthrosis @@ -150887,7 +152180,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Hemarthrosis + ORCID:0000-0001-5208-3432 + Bleeding within a joint @@ -150976,6 +152270,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Stomach inflammation + + Stomach inflammation + ORCID:0000-0001-5208-3432 + + + + Gastritis MEDDRA:10017853 @@ -150988,13 +152289,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - orcid.org/0000-0001-5208-3432 - Stomach inflammation - - - - @@ -151034,18 +152328,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter - - An abnormality of the gallbladder. - HPO:probinson - - - Abnormality of the gallbladder + + An abnormality of the gallbladder. + HPO:probinson + + + @@ -151195,65 +152489,65 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Prominent laugh lines Deep nasolabial groove Deep nasolabial crease - Deep laugh lines Prominent smile lines + Deep laugh lines - orcid.org/0000-0001-5889-4463 - Deep laugh lines + ORCID:0000-0001-5889-4463 + Prominent nasolabial groove - - orcid.org/0000-0001-5889-4463 - Deep nasolabial crease + Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). + pmid:19125428 - + - orcid.org/0000-0001-5889-4463 Prominent smile lines + ORCID:0000-0001-5889-4463 - Deep nasolabial fold - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Prominent laugh lines + - orcid.org/0000-0001-5889-4463 - Prominent nasolabial groove + Deep laugh lines + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deep smile lines - Prominent laugh lines - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deep nasolabial crease - - Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). - pmid:19125428 + ORCID:0000-0001-5889-4463 + Deep nasolabial groove - + - orcid.org/0000-0001-5889-4463 - Deep nasolabial groove + Deep nasolabial fold + ORCID:0000-0001-5889-4463 @@ -151298,17 +152592,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Absent nasal septal cartilage + Absent nasal septum - - true - - - - HPO:probinson Lack of the cartilage of the nasal septum. @@ -151316,21 +152604,27 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Absent nasal septum + true + + + + + + Absent nasal septal cartilage Failure of development of nasal septal cartilage - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Ageneis of nasal septal cartilage - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -151376,79 +152670,79 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hyperplasia of tip of nose Prominent tip of nose Hypertrophy of nasal tip - Pronounced nasal tip Pronounced tip of nose + Pronounced nasal tip Large nasal tip - Pronounced nasal tip - orcid.org/0000-0001-5889-4463 + Pronounced tip of nose + ORCID:0000-0001-5889-4463 - Hypertrophy of nasal tip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hyperplasia of tip of nose - orcid.org/0000-0001-5889-4463 - Bulbous tip of nose + ORCID:0000-0001-5889-4463 + Hyperplasia of nasal tip - - + - Large tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypertrophy of tip of nose - - + - Large nasal tip - orcid.org/0000-0001-5889-4463 + Prominent nasal tip - Pronounced tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Bulbous tip of nose - + - Prominent tip of nose - orcid.org/0000-0001-5889-4463 + Large tip of nose + ORCID:0000-0001-5889-4463 - Hyperplasia of tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Large nasal tip - + + - Prominent nasal tip + ORCID:0000-0001-5889-4463 + Prominent tip of nose - Hypertrophy of tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pronounced nasal tip - + + - orcid.org/0000-0001-5889-4463 - Hyperplasia of nasal tip + Hypertrophy of nasal tip + ORCID:0000-0001-5889-4463 @@ -151497,7 +152791,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cartilaginous nasal ossification - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -151547,78 +152841,78 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased size of tip of nose - Deficient nasal tip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small tip of nose - + - Hypoplasia of tip of nose - orcid.org/0000-0001-5889-4463 + Deficient nasal tip + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Underdevelopment of nasal tip + Decreased size of tip of nose + ORCID:0000-0001-5889-4463 - Hypotrophic nasal tip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypoplasia of tip of nose - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Aplasia of nasal tip - orcid.org/0000-0001-5889-4463 - Decreased size of tip of nose + ORCID:0000-0001-5889-4463 + Hypotrophic nasal tip + + + + + ORCID:0000-0001-5889-4463 + Underdevelopment of nasal tip - orcid.org/0000-0001-5889-4463 - Underdevelopment of tip of nose + Decreased size of nasal tip + ORCID:0000-0001-5889-4463 - Decreased size of nasal tip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Small nasal tip - orcid.org/0000-0001-5889-4463 Hypotrophic tip of nose + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Small tip of nose - - - - @@ -151672,71 +152966,77 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C3550546 UMLS:C4280495 human_phenotype + Concave nasal bridge Low nasal root Depressed bridge of nose Retruded bridge of nose Retruded nasal bridge - Concave nasal bridge Flat bridge of nose Concave bridge of nose - Low nasal root - HPO:skoehler + Depressed bridge of nose + ORCID:0000-0001-5889-4463 - Concave nasal bridge - orcid.org/0000-0001-5889-4463 + Depressed nasal bridge - + - orcid.org/0000-0001-5889-4463 - Depressed bridge of nose + ORCID:0000-0001-5889-4463 + Retruded bridge of nose - - Depressed nasal bridge + Flat, nasal bridge - Depressed nasal root/bridge - HPO:skoehler + HPO:skoehler + Low nasal root - + + - Low nasal bridge + Flat bridge of nose + ORCID:0000-0001-5889-4463 - Flattened nasal bridge + Retruded nasal bridge + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 Concave bridge of nose + ORCID:0000-0001-5889-4463 - Retruded nasal bridge - orcid.org/0000-0001-5889-4463 + Low nasal bridge + + + + + Flattened nasal bridge + + @@ -151746,29 +153046,23 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Flat bridge of nose - orcid.org/0000-0001-5889-4463 + Concave nasal bridge + ORCID:0000-0001-5889-4463 - + - Flat, nasal bridge + Flat nasal bridge - Retruded bridge of nose - orcid.org/0000-0001-5889-4463 - - - - - Flat nasal bridge + Depressed nasal root/bridge + HPO:skoehler - - + @@ -151811,49 +153105,49 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small nasal bridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypotrophic bridge of nose - orcid.org/0000-0001-5889-4463 - Small nasal bridge + Hypotrophic nasal bridge + ORCID:0000-0001-5889-4463 - - + - Decreased size of bridge of nose - orcid.org/0000-0001-5889-4463 + Hypoplastic bridge of nose + ORCID:0000-0001-5889-4463 - Decreased size of nasal bridge - orcid.org/0000-0001-5889-4463 + Small nasal bridge + ORCID:0000-0001-5889-4463 - Small bridge of nose - orcid.org/0000-0001-5889-4463 + Decreased size of nasal bridge + ORCID:0000-0001-5889-4463 - Hypoplastic bridge of nose - orcid.org/0000-0001-5889-4463 + Small bridge of nose + ORCID:0000-0001-5889-4463 + - Hypotrophic nasal bridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased size of bridge of nose - + @@ -151894,42 +153188,42 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent bridge of nose + ORCID:0000-0001-5889-4463 Absent bridge of nose - orcid.org/0000-0001-5889-4463 - Missing nasal bridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Agenesis of nasal bridge - - Missing bridge of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing nasal bridge - Agenesis of bridge of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing bridge of nose + - orcid.org/0000-0001-5889-4463 - Agenesis of nasal bridge + Absent nasal bridge + - Absent nasal bridge + ORCID:0000-0001-5889-4463 + Agenesis of bridge of nose - @@ -151975,16 +153269,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Malformation of the nares + Abnormality of the nostrils - + + - Anomaly of the nares - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the nostrils - + + Abnormality of the nostril. @@ -151993,29 +153288,28 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Malformation of the nostrils - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anomaly of the nares - - + - Deformity of the nares - orcid.org/0000-0001-5889-4463 + Malformation of the nostrils + ORCID:0000-0001-5889-4463 + - Abnormality of the nostrils + ORCID:0000-0001-5889-4463 + Malformation of the nares - - + - orcid.org/0000-0001-5889-4463 - Deformity of the nostrils + ORCID:0000-0001-5889-4463 + Deformity of the nares - @@ -152056,22 +153350,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Deformity of the nasolabial region - Malformation of the nasolabial region - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the nasolabial region - orcid.org/0000-0001-5889-4463 - Anomaly of the nasolabial region + ORCID:0000-0001-5889-4463 + Malformation of the nasolabial region - + - orcid.org/0000-0001-5889-4463 - Deformity of the nasolabial region + ORCID:0000-0001-5889-4463 + Anomaly of the nasolabial region - + @@ -152114,40 +153408,40 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Aplasia of internal carotid artery - Aplasia of internal carotid artery - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small internal carotid artery - + - orcid.org/0000-0001-5889-4463 - Decreased size of internal carotid artery + ORCID:0000-0001-5889-4463 + Aplasia of internal carotid artery - + - orcid.org/0000-0001-5889-4463 - Deficiency of internal carotid artery + true - + + Hypotrophic internal carotid artery - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - true + ORCID:0000-0001-5889-4463 + Deficiency of internal carotid artery - - + - Small internal carotid artery - orcid.org/0000-0001-5889-4463 + Decreased size of internal carotid artery + ORCID:0000-0001-5889-4463 @@ -152337,8 +153631,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. PMID:18847480 + A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. @@ -152437,7 +153731,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped lung veins - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped lung veins @@ -152481,8 +153775,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Blood clot in cerebral vein - orcid.org/0000-0001-6908-9849 Blood clot in cerebral vein + ORCID:0000-0001-6908-9849 @@ -152629,8 +153923,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent lung vessels - orcid.org/0000-0001-5208-3432 Absent lung vessels + ORCID:0000-0001-5208-3432 @@ -152792,8 +154086,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Lack of facial fat below the skin + ORCID:0000-0001-5889-4463 Lack of facial fat below the skin - orcid.org/0000-0001-5889-4463 @@ -152815,8 +154109,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Treacher collins syndrome + ORCID:0000-0001-5889-4463 Treacher collins syndrome - orcid.org/0000-0001-5889-4463 @@ -152867,45 +154161,45 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Prominent septum of nose - orcid.org/0000-0001-5889-4463 - Low hanging nasal septum + ORCID:0000-0001-5889-4463 + Visible nasal septum Low hanging septum of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Prominent septum of nose - orcid.org/0000-0001-5889-4463 + Prominent nasal septum - orcid.org/0000-0001-5889-4463 - Visible nasal septum + Low hanging nasal septum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Visible septum of nose + Prominent septum of nose + ORCID:0000-0001-5889-4463 - + - Prominent nasal septum + Visible septum of nose + ORCID:0000-0001-5889-4463 - + @@ -152935,63 +154229,63 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Facial hemihyperplasia + Facial hemihypertophy + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Hypertrophy of half of face + Friedreich's disease + ORCID:0000-0001-5889-4463 - - + - Overgrowth of half of face - orcid.org/0000-0001-5889-4463 + HPO:probinson + Unilateral overgrowth of facial tissues, including muscles, bones and skin. - - + - Hemifacial enlargement - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Overgrowth of half of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increase in size of half of face - Facial hemihypertophy - orcid.org/0000-0001-5889-4463 + Enlargement of half of face + ORCID:0000-0001-5889-4463 + - Enlargement of half of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypertrophy of half of face - Friedreich's disease - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Facial hemihyperplasia - HPO:probinson - Unilateral overgrowth of facial tissues, including muscles, bones and skin. + Hemifacial enlargement + ORCID:0000-0001-5889-4463 - + + @@ -153007,18 +154301,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4025215 human_phenotype - - An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. - DDD:cwright - - - Disturbance of facial expression + + An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. + DDD:cwright + + + @@ -153074,18 +154368,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Small philtrum - - orcid.org/0000-0001-5889-4463 - Small philtrum - - - HPO:probinson Underdevelopment of the philtrum. + + Small philtrum + ORCID:0000-0001-5889-4463 + + + @@ -153145,7 +154439,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Unchanging facial expression - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Unchanging facial expression @@ -153215,15 +154509,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Somnolent facial expression - orcid.org/0000-0001-5889-4463 - Somnolent facial expression + Sleepy facial expression + - Sleepy facial expression + Somnolent facial expression + ORCID:0000-0001-5889-4463 - @@ -153271,8 +154565,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Darkening of the forehead + ORCID:0000-0001-5889-4463 Darkening of the forehead - orcid.org/0000-0001-5889-4463 @@ -153300,10 +154594,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Decreased density/number and/or decreased diameter of lateral eyebrow hairs. - HPO:probinson + HPO:skoehler + Laterally sparse eyebrows - + HPO:skoehler @@ -153312,10 +154606,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:skoehler - Laterally sparse eyebrows + Decreased density/number and/or decreased diameter of lateral eyebrow hairs. + HPO:probinson - + @@ -153408,18 +154702,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped bladder - HPO:probinson - Underdevelopment of the urinary bladder. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped bladder + + HPO:probinson + Underdevelopment of the urinary bladder. + + + @@ -153623,18 +154917,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS). - - PMID:18755723 - A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. - - - Severe T-cell immunodeficiency + + A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. + PMID:18755723 + + + @@ -153768,18 +155062,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent thymus - Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Absent thymus - orcid.org/0000-0001-5208-3432 + + Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. + HPO:probinson + + + @@ -153915,8 +155209,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A reduced level of the complement component Factor H in circulation. - A reduced level of the complement component Factor H in circulation. https://emedicine.medscape.com/article/135478-overview + A reduced level of the complement component Factor H in circulation. @@ -153964,18 +155258,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Abnormality of B cell physiology - - - - An abnormality of the physiological functioning of B cells. HPO:probinson + + Abnormality of B cell physiology + + + + @@ -154011,8 +155305,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0005375 - http://www.dictionary.com/browse/cellular-immunodeficiency An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. + http://www.dictionary.com/browse/cellular-immunodeficiency @@ -154119,8 +155413,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of - ISBN:0781735140 GOC:mgi_curators + ISBN:0781735140 @@ -154176,8 +155470,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. - An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. https://en.wikipedia.org/wiki/Alternative_complement_pathway + An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. @@ -154340,15 +155634,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decrease in T cell number - An abnormally low count of T cells. - HPO:probinson - - - - - T lymphocytopenia - HPO:skoehler + Low T cell count + @@ -154358,11 +155646,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Low T cell count + HPO:skoehler + T lymphocytopenia - + + An abnormally low count of T cells. + HPO:probinson + + + @@ -154426,18 +155720,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1835686 human_phenotype - - HPO:probinson - Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. - - - Recurrent bacterial skin infections + + HPO:probinson + Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. + + + @@ -154791,8 +156085,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. - orcid.org/0000-0001-7941-2961 Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. + ORCID:0000-0001-7941-2961 @@ -154881,10 +156175,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. - T-cell dysfunction + ORCID:0000-0001-7941-2961 + Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. - - + Impaired T cell function @@ -154893,10 +156187,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. - orcid.org/0000-0001-7941-2961 + T-cell dysfunction - + + @@ -154963,31 +156257,31 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased projection of zygomaticomaxillary bone complex - Hypoplasia of zygomaticomaxillary complex - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deficiency of zygomaticomaxillary bone complex - orcid.org/0000-0001-5889-4463 - Underdevelopment of zygomaticomaxillary bone complex + ORCID:0000-0001-5889-4463 + Hypoplasia of zygomaticomaxillary complex + ORCID:0000-0001-5889-4463 Decreased projection of zygomaticomaxillary bone complex - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Decreased size of zygomaticomaxillary bone complex + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypoplasia of malar bone complex @@ -154999,8 +156293,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Deficiency of zygomaticomaxillary bone complex - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of zygomaticomaxillary bone complex @@ -155136,8 +156430,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Steep mandibular plane angle + ORCID:0000-0001-5889-4463 + High mandibular plane angle + + + + + ORCID:0000-0001-5889-4463 Steep mandibular plane angle - orcid.org/0000-0001-5889-4463 @@ -155147,12 +156447,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - High mandibular plane angle - orcid.org/0000-0001-5889-4463 - - - @@ -155331,15 +156625,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4025194 human_phenotype Agenesis of ethmoid sinuses - Missing ethmoid sinuses Failure of development of ethmoid sinuses + Missing ethmoid sinuses - - HPO:probinson - Lack (aplasia) of the ethmoidal sinus. - - - true @@ -155347,20 +156635,26 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 Missing ethmoid sinuses + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of ethmoid sinuses + HPO:probinson + Lack (aplasia) of the ethmoidal sinus. - + - orcid.org/0000-0001-5889-4463 Agenesis of ethmoid sinuses + ORCID:0000-0001-5889-4463 + + + + + Failure of development of ethmoid sinuses + ORCID:0000-0001-5889-4463 @@ -155419,41 +156713,41 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Early closure of the bregma sutures - Early closure of the cranial sutures - orcid.org/0000-0001-5889-4463 + Premature closure of the cranial sutures + ORCID:0000-0001-5889-4463 Early closure of the bregma sutures - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Premature closure of the cranial sutures + Premature closure of the bregma sutures + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Premature closure of the bregma sutures + DDD:awilkie + HPO:probinson + Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. - + Early closure of the fontanelles - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - DDD:awilkie - HPO:probinson - Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. + Early closure of the cranial sutures + ORCID:0000-0001-5889-4463 - + @@ -155626,115 +156920,115 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Enlargement of facial skeleton + Overgrowth of facial skeleton + ORCID:0000-0001-5889-4463 - + - Hypertrophy of facial skeleton - orcid.org/0000-0001-5889-4463 + Excessive growth of facial skeleton + ORCID:0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 + Enlargement of facial skeleton + - Hypertrophy of the facial bones - orcid.org/0000-0001-5889-4463 + Increased ossification of facial skeleton + ORCID:0000-0001-5889-4463 - + - Enlargment of the facial bones - orcid.org/0000-0001-5889-4463 + Hypertrophy of the facial bones + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Excessive growth of facial bones + ORCID:0000-0001-5889-4463 + Increased ossification of facial bones - - + - Hyperostosis of facial bones - orcid.org/0000-0001-5889-4463 + Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. + HPO:probinson - + - Overgrowth of the facial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Enlargment of the facial bones - Enlargement of facial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hyperostosis of facial skeleton - - + - Increased ossification of facial bones - orcid.org/0000-0001-5889-4463 + Hypertrophy of facial bones + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Increase in size of the facial bones + Hyperostosis of facial bones + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Excessive growth of facial skeleton + Enlargement of facial bones + ORCID:0000-0001-5889-4463 - + - Hyperostosis of facial skeleton - orcid.org/0000-0001-5889-4463 + Hypertrophy of facial skeleton + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Increased ossification of facial skeleton + Overgrowth of the facial bones + ORCID:0000-0001-5889-4463 - + + + ORCID:0000-0001-5889-4463 Overgrowth of facial bones - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Overgrowth of facial skeleton + ORCID:0000-0001-5889-4463 + Excessive growth of facial bones - Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 - Hypertrophy of facial bones + Increase in size of the facial bones + ORCID:0000-0001-5889-4463 - + + @@ -155781,47 +157075,47 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Thin bone of forehead - orcid.org/0000-0001-5889-4463 - Small bone of forehead + Decreased size of bone of forehead + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased size of bone of forehead + Thin bone of forehead + ORCID:0000-0001-5889-4463 - + - Hypotrophic frontal bone - orcid.org/0000-0001-5889-4463 + HPO:probinson + Underdevelopment of the frontal bone. - + + ORCID:0000-0001-5889-4463 Hypotrophic frontal bones - orcid.org/0000-0001-5889-4463 - Thin bone of forehead - orcid.org/0000-0001-5889-4463 + Small bone of forehead + ORCID:0000-0001-5889-4463 - + - HPO:probinson - Underdevelopment of the frontal bone. + ORCID:0000-0001-5889-4463 + Hypotrophic frontal bone - + Underdevelopment of bone of forehead - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -155870,28 +157164,21 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Flat posterior cranium - Flat back of the skull - orcid.org/0000-0001-5889-4463 - - - - - - orcid.org/0000-0001-5889-4463 Flat back of the head + ORCID:0000-0001-5889-4463 Flat posterior head - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -155902,6 +157189,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Flat back of the skull + ORCID:0000-0001-5889-4463 + + + + @@ -156047,7 +157341,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Soft skullcap - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -156182,35 +157476,35 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased volume of frontal sinus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased size of frontal sinus - orcid.org/0000-0001-5889-4463 - Hypertrophy of frontal sinus + ORCID:0000-0001-5889-4463 + Large frontal sinus - + - orcid.org/0000-0001-5889-4463 - Increased volume of frontal sinus + Hyperplasia of frontal sinus + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Large frontal sinus + Hypertrophy of frontal sinus + ORCID:0000-0001-5889-4463 - + - Hyperplasia of frontal sinus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased volume of frontal sinus + @@ -156283,8 +157577,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A deviation in any aspect of the alternative complement pathway. - The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. PMID:16424154 + The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. @@ -156294,14 +157588,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Abnormality of the epiglottis + Abnormal epiglottis morphology - + @@ -156322,6 +157616,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4025190 human_phenotype peter + Abnormality of the epiglottis An abnormality of the epiglottis. @@ -156382,11 +157677,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Development of small head that was not present at birth - orcid.org/0000-0001-5889-4463 - Development of small head that was not present at birth + Acquired microcephaly + ORCID:0000-0001-5889-4463 - - + HPO:probinson @@ -156395,10 +157689,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:orcid.org/0000-0001-5889-4463 - Acquired microcephaly + ORCID:0000-0001-5889-4463 + Development of small head that was not present at birth - + + @@ -156444,50 +157739,50 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Small soft spot - orcid.org/0000-0001-5889-4463 + A fontanelle that is small for age. + HPO:probinson + pmid:12825844 - - + - orcid.org/0000-0001-5889-4463 Little fontanelle + ORCID:0000-0001-5889-4463 - Little cranial sutures - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small bregma sutures - - + + ORCID:0000-0001-5889-4463 Microfontanelle - orcid.org/0000-0001-5889-4463 - A fontanelle that is small for age. - HPO:probinson - pmid:12825844 + ORCID:0000-0001-5889-4463 + Small cranial sutures - + + - orcid.org/0000-0001-5889-4463 - Small cranial sutures + ORCID:0000-0001-5889-4463 + Little cranial sutures - orcid.org/0000-0001-5889-4463 - Small bregma sutures + Small soft spot + ORCID:0000-0001-5889-4463 - + + @@ -156532,33 +157827,33 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:probinson - Vertical bony ridge positioned in the midline of the forehead. - pmid:19125436 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Prominent frontal suture - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Prominent frontal ridge + + HPO:probinson + Vertical bony ridge positioned in the midline of the forehead. + pmid:19125436 + + + Prominent metopic suture - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Ridging of frontal suture + ORCID:0000-0001-5889-4463 @@ -156695,18 +157990,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0023473 human_phenotype - - A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. - HPO:probinson - - - chronic myeloid leukemia DOID:8552 + + A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. + HPO:probinson + + + @@ -156800,8 +158095,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Transient decrease in blood erythrocyte number - orcid.org/0000-0001-5208-3432 Transient decrease in blood erythrocyte number + ORCID:0000-0001-5208-3432 @@ -157127,12 +158422,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1855710 human_phenotype - - Bone marrow failure - - - - A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. DDD:wouwehand @@ -157140,6 +158429,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Bone marrow failure + + + + @@ -157196,16 +158491,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Transient leukemia of Down syndrome - PMID:22966823 - A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. + TMD - + + - TMD + PMID:22966823 + A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. - - + @@ -157265,12 +158560,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1833182 human_phenotype - - Small platelet size - - - - Average platelet volume below the lower limit of the normal reference interval. DDD:wouwehand @@ -157278,7 +158567,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Small platelets size + Small platelet size @@ -157289,6 +158578,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Small platelets size + + + + @@ -157303,8 +158598,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. - A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. ISBN:9780721600406 + A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. @@ -157486,16 +158781,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Low blood neutrophil level since birth - A form of neutropenia with congenital onset. - HPO:probinson + ORCID:0000-0001-5208-3432 + Low blood neutrophil level since birth - + - orcid.org/0000-0001-5208-3432 - Low blood neutrophil level since birth + A form of neutropenia with congenital onset. + HPO:probinson - + @@ -157609,50 +158904,50 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Deformity of the zygomatic arch - Abnormality of the malar arch - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of the malar arch - + - orcid.org/0000-0001-5889-4463 - Malformation of the malar arch + An abnormality of the zygomatic arch, also known as the cheek bone. + HPO:probinson - + - Deformity of the malar arch - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anomaly of the malar arch - orcid.org/0000-0001-5889-4463 - Deformity of the zygomatic arch + ORCID:0000-0001-5889-4463 + Abnormality of the malar arch - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Malformation of the zygomatic arch - An abnormality of the zygomatic arch, also known as the cheek bone. - HPO:probinson + ORCID:0000-0001-5889-4463 + Deformity of the zygomatic arch - + - orcid.org/0000-0001-5889-4463 Anomaly of the zygomatic arch + ORCID:0000-0001-5889-4463 - Anomaly of the malar arch - orcid.org/0000-0001-5889-4463 + Deformity of the malar arch + ORCID:0000-0001-5889-4463 @@ -157676,17 +158971,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. - http://orcid.org/0000-0001-5208-3432 - Chronic blood cancer + NCIT:C3483 + A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. - - + - A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. - NCIT:C3483 + Chronic blood cancer + ORCID:0000-0001-5208-3432 - + + @@ -157799,7 +159094,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Multiple kidney cysts @@ -158164,7 +159459,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Spotty increased pigmentation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -158184,7 +159479,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased pigmentation in sun-exposed areas - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased pigmentation in sun-exposed areas @@ -158244,8 +159539,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Spotty decreased pigmentation + ORCID:0000-0001-5208-3432 @@ -158401,13 +159696,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Giant pigmented mole - - Giant pigmented mole - orcid.org/0000-0001-6908-9849 - - - - HPO:probinson The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. @@ -158415,6 +159703,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Giant pigmented mole + ORCID:0000-0001-6908-9849 + + + + @@ -158507,14 +159802,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Abnormality of the tracheobronchial system + Abnormal tracheobronchial morphology - + @@ -158536,6 +159831,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4021631 human_phenotype peter + Fyler:4232 @@ -158656,15 +159952,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped thighbone + ORCID:0000-0001-5208-3432 Absent/small thighbone - http://orcid.org/0000-0001-5208-3432 - - - - - - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped thighbone @@ -158675,6 +159964,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + ORCID:0000-0001-5208-3432 + Absent/underdeveloped thighbone + + + + @@ -158819,18 +160115,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased mobility of hinge joints - HPO:curators - The ability of the interphalangeal joints to move beyond their normal range of motion. - - - - - orcid.org/0000-0001-5208-3432 Increased mobility of hinge joints + ORCID:0000-0001-5208-3432 + + HPO:curators + The ability of the interphalangeal joints to move beyond their normal range of motion. + + + @@ -158900,7 +160196,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - Widened long bones + Broad long bones @@ -158912,16 +160208,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:probinson - Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. + Widened long bones - + + - Broad long bones + HPO:probinson + Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. - - + @@ -158975,8 +160271,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Absent bone maturation of skullcap - orcid.org/0000-0001-5889-4463 @@ -159096,17 +160392,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - Absent forearms - HPO:skoehler + Absent forearm - + - Absent forearm + Absent forearms + HPO:skoehler - + @@ -159217,12 +160513,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdevelopment (hypoplasia) of the third toe. human_phenotype - - Short third toe - - - - HPO:probinson Underdevelopment (hypoplasia) of the third toe. @@ -159235,6 +160525,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Short third toe + + + + @@ -159493,8 +160789,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Salmonella bone infection - Osteomyelitis caused by infection with the bacteria, salmonella. PMID:26668420 + Osteomyelitis caused by infection with the bacteria, salmonella. @@ -159652,8 +160948,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. - A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. PMID:25349664 + A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. @@ -159673,9 +160969,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Juvenile idiopathic arthritis - orcid.org/0000-0001-5208-3432 https://en.wikipedia.org/wiki/subtalar_joint Juvenile idiopathic arthritis + ORCID:0000-0001-5208-3432 @@ -159695,19 +160991,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Fusion of foot joint - orcid.org/0000-0001-5208-3432 - Fusion of the subtalar joint + ORCID:0000-0001-5208-3432 + Fusion of foot joint https://en.wikipedia.org/wiki/subtalar_joint - + + + ORCID:0000-0001-5208-3432 + Fusion of the subtalar joint https://en.wikipedia.org/wiki/subtalar_joint - orcid.org/0000-0001-5208-3432 - Fusion of foot joint - - + @@ -159765,12 +161061,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Uneven increase in bone density - - HPO:curators - Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. - - - HPO:curators Patchy increase of bone mineral density @@ -159778,12 +161068,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Uneven increase in bone density - http://orcid.org/0000-0001-5208-3432 + + HPO:curators + Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. + + + @@ -159818,8 +161114,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Deformed head of long bone in upper arm - orcid.org/0000-0001-5208-3432 Deformed head of long bone in upper arm + ORCID:0000-0001-5208-3432 @@ -159874,7 +161170,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Partial fusion of innermost row of wrist bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial fusion of innermost row of wrist bones @@ -159964,7 +161260,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Webbed skin of 2nd-3rd toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -160014,8 +161310,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Flattened end part of knee bone - orcid.org/0000-0001-5208-3432 Flattened end part of knee bone + ORCID:0000-0001-5208-3432 @@ -160054,19 +161350,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Shortened long bones of hand - - http://orcid.org/0000-0001-5208-3432 - Shortened long bones of hand - - - - Abnormal reduction in length of all metacarpal bones. HPO:probinson + + Shortened long bones of hand + ORCID:0000-0001-5208-3432 + + + + @@ -160082,8 +161378,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Double jointed thumb - orcid.org/0000-0001-6908-9849 Double jointed thumb + ORCID:0000-0001-6908-9849 @@ -160140,8 +161436,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short thumbs with bulbous tips - orcid.org/0000-0001-5208-3432 Short thumbs with bulbous tips + ORCID:0000-0001-5208-3432 @@ -160248,20 +161544,20 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short skankbone - HPO:probinson - Underdevelopment (reduced size) of the tibia. - - - - - orcid.org/0000-0001-5208-3432 Short skankbone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + HPO:probinson + Underdevelopment (reduced size) of the tibia. + + + + + ORCID:0000-0001-5208-3432 Short shinbone @@ -160514,8 +161810,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Speckled calcifications in bone end parts in neonates - orcid.org/0000-0001-5208-3432 @@ -160559,8 +161855,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small and flat posterior skull bones - orcid.org/0000-0001-5889-4463 Small and flat posterior skull bones + ORCID:0000-0001-5889-4463 @@ -160571,8 +161867,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Small and flat posterior fossa of skull - orcid.org/0000-0001-5889-4463 @@ -160619,15 +161915,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Disproportionate shortening of the shankbone - orcid.org/0000-0001-5208-3432 - Disproportionate shortening of the shankbone + ORCID:0000-0001-5208-3432 + Disproportionate shortening of the shinbone - orcid.org/0000-0001-5208-3432 - Disproportionate shortening of the shinbone + ORCID:0000-0001-5208-3432 + Disproportionate shortening of the shankbone @@ -160646,8 +161942,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Webbed 1st-2nd toes + ORCID:0000-0001-5208-3432 Webbed 1st-2nd toes - orcid.org/0000-0001-5208-3432 @@ -160669,14 +161965,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Webbed second, third and fourth toes - orcid.org/0000-0001-5208-3432 Webbed second, third and fourth toes + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Webbed 2nd, 3rd and 4th toes @@ -160727,7 +162023,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Curvature of outermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curvature of outermost bone of pinky finger @@ -160740,15 +162036,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Curvature of outermost bone of pinkie finger + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curvature of outermost bone of little finger - orcid.org/0000-0001-5208-3432 @@ -160794,8 +162090,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped shankbone - Absent/underdeveloped shinbone - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped shankbone + ORCID:0000-0001-5208-3432 @@ -160807,22 +162103,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 - Absent/small shankbone + Absent/small shinbone + ORCID:0000-0001-5208-3432 - Absent/small shinbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped shinbone - Absent/underdeveloped shankbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small shankbone @@ -161053,19 +162349,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Increased bone density in skeletal bones - - http://orcid.org/0000-0001-5208-3432 - Increased bone density in skeletal bones - - - - An abnormal increase of bone mineral density with generalized involvement of the skeleton. HPO:probinson + + Increased bone density in skeletal bones + ORCID:0000-0001-5208-3432 + + + + @@ -161107,37 +162403,37 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short condylar head of mandible - orcid.org/0000-0001-5889-4463 - Short condylar process of mandible + Decreased length of condylar process of mandible + ORCID:0000-0001-5889-4463 - Short condylar head of mandible - orcid.org/0000-0001-5889-4463 + true - + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Short condylar neck of mandible - true + Short condylar process of mandible + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Decreased length of condylar process of mandible + Short condylar head of mandible + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased height of condylar process of mandible @@ -161241,18 +162537,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 - Short long bone of upper arm + Short upper arms - - HPO:probinson - Underdevelopment of the humerus. - - - Short humerus @@ -161260,11 +162549,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Short upper arms + ORCID:0000-0001-6908-9849 + Short long bone of upper arm + + HPO:probinson + Underdevelopment of the humerus. + + + @@ -161286,7 +162582,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Shortening of all outermost bone of the toes @@ -161377,7 +162673,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent outermost digital bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -161420,18 +162716,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - - HPO:probinson - The presence of more than 12 rib pairs. - - - Extra ribs + + HPO:probinson + The presence of more than 12 rib pairs. + + + @@ -161505,7 +162801,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short middle bone of finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -161559,19 +162855,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Curvature of 2nd toe - - Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). - HPO:probinson - - - Curvature of 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). + HPO:probinson + + + @@ -161820,8 +163116,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Rounded middle bone of finger - orcid.org/0000-0001-5208-3432 @@ -161860,19 +163156,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Notched outermost bone of thumb - - Cleft (split into two parts) distal phalanx of thumb. - HPO:probinson - - - Notched outermost bone of thumb - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Cleft (split into two parts) distal phalanx of thumb. + HPO:probinson + + + @@ -161952,31 +163248,31 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - HPO:curators - The presence of bone fractures in the prenatal period that are diagnosed at birth or before. + Multiple fractures present at birth - + + - Multiple fractures, present at birth + Numerous multiple fractures that are present at birth - Numerous multiple fractures present at birth + Multiple fractures, present at birth - Numerous multiple fractures that are present at birth + HPO:curators + The presence of bone fractures in the prenatal period that are diagnosed at birth or before. - - + - Multiple fractures present at birth + Numerous multiple fractures present at birth @@ -162112,7 +163408,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Fused 4th-5th long bones of hand - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused 4th-5th long bones of hand @@ -162132,9 +163428,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. - HPO:probinson - An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. pmid:20661403 + An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. + HPO:probinson @@ -162200,16 +163496,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Polysyndactyly of big toe - Combined syndactyly and polydactyly of the great toe. - HPO:probinson + ORCID:0000-0001-5208-3432 + Polysyndactyly of big toe - + - Polysyndactyly of big toe - orcid.org/0000-0001-5208-3432 + Combined syndactyly and polydactyly of the great toe. + HPO:probinson - + @@ -162326,8 +163622,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Fused long bone of hand with innermost finger bone - http://orcid.org/0000-0001-5208-3432 Fused long bone of hand with innermost finger bone + ORCID:0000-0001-5208-3432 @@ -162416,6 +163712,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4025115 human_phenotype + + A lack of bone mineralization of one or more body of cervical vertebra. + HPO:probinson + + + HPO:skoehler @@ -162461,12 +163763,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - A lack of bone mineralization of one or more body of cervical vertebra. - HPO:probinson - - - @@ -162536,40 +163832,40 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hyperostosis of the internal surface of the cranial bones - Overgrowth of the inner surface of the skull bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased ossification of the internal surface of the cranial bones - - + - Thick internal surface of the cranial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Enlargement of the inner surface of the skull bones + - Hyperostosis of the internal surface of the cranial bone - orcid.org/0000-0001-5889-4463 + Hypertrophy of the internal surface of the cranial bones + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Increased ossification of the internal surface of the cranial bones + ORCID:0000-0001-5889-4463 + Hyperostosis of the internal surface of the cranial bone - + - orcid.org/0000-0001-5889-4463 - Thick inner surface of the skull bones + ORCID:0000-0001-5889-4463 + Overgrowth of the inside of the skull + ORCID:0000-0001-5889-4463 Excessive growth of inner surface of the skull bones - orcid.org/0000-0001-5889-4463 @@ -162581,30 +163877,30 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Hypertrophy of the internal surface of the cranial bones + ORCID:0000-0001-5889-4463 + Thick internal surface of the cranial bones - orcid.org/0000-0001-5889-4463 - Enlargement of the inner surface of the skull bones + ORCID:0000-0001-5889-4463 + Thick inner surface of the skull bones Hyperostosis of the internal surface of the cranial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Overgrowth of the inside of the skull - orcid.org/0000-0001-5889-4463 + Overgrowth of the inner surface of the skull bones + ORCID:0000-0001-5889-4463 - + @@ -162642,7 +163938,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Fusion of innermost shinbone and calf bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fusion of innermost shinbone and calf bone @@ -162662,19 +163958,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Double 1st long bones of hand - - Double 1st long bones of hand - http://orcid.org/0000-0001-5208-3432 - - - - Duplication of the metacarpal I bones. HPO:curators + + Double 1st long bones of hand + ORCID:0000-0001-5208-3432 + + + + @@ -162845,8 +164141,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal neck curve - orcid.org/0000-0001-6908-9849 Abnormal neck curve + ORCID:0000-0001-6908-9849 @@ -162980,7 +164276,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of end part of long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of end part of long bone of hand @@ -163028,8 +164324,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1836192 human_phenotype peter - Absent/underdeveloped long bones of hand Absent/small long bones of hand + Absent/underdeveloped long bones of hand Aplasia or Hypoplasia affecting the metacarpal bones. @@ -163038,15 +164334,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Absent/small long bones of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped long bones of hand - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped long bones of hand + Absent/small long bones of hand + ORCID:0000-0001-5208-3432 @@ -163090,19 +164386,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Abnormal shape of long bones of hand - - orcid.org/0000-0001-5208-3432 - Abnormal shape of long bones of hand - - - - HPO:curators Irregularly shaped metacarpal bones of varying degree. + + Abnormal shape of long bones of hand + ORCID:0000-0001-5208-3432 + + + + @@ -163142,7 +164438,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Extra long bones of hand - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -163196,8 +164492,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the finger bones + ORCID:0000-0001-5208-3432 Abnormality of the finger bones - http://orcid.org/0000-0001-5208-3432 @@ -163248,18 +164544,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the end part of the hand bones - Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the hand bones + + Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). + HPO:curators + + + @@ -163267,9 +164563,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Abnormal ossification of hand bones - 2008-03-27T02:23:00Z HP:0005921 - peter true HP:0010660 @@ -163311,19 +164605,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Abnormal shape of hand - - Abnormal shape of hand - orcid.org/0000-0001-5208-3432 - - - - Any structural anomaly of the hand. HPO:probinson + + Abnormal shape of hand + ORCID:0000-0001-5208-3432 + + + + @@ -163371,8 +164665,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the wide portion of the hand bone - orcid.org/0000-0001-5208-3432 Abnormality of the wide portion of the hand bone + ORCID:0000-0001-5208-3432 @@ -163426,7 +164720,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the end part of the hand bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -163484,7 +164778,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormalities of shaft of long bone of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormalities of shaft of long bone of the hand @@ -163546,13 +164840,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped hand bones Absent/small hand bones - - Absent/small hand bones - http://orcid.org/0000-0001-5208-3432 - - - - Absence (due to failure to form) or underdevelopment of the bones of the hand. HPO:probinson @@ -163560,8 +164847,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - http://orcid.org/0000-0001-5208-3432 Absent/underdeveloped hand bones + ORCID:0000-0001-5208-3432 + + + + + + Absent/small hand bones + ORCID:0000-0001-5208-3432 @@ -163607,8 +164901,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bone fusion involving the calf bones + ORCID:0000-0001-5208-3432 Bone fusion involving the calf bones - orcid.org/0000-0001-5208-3432 @@ -163654,7 +164948,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bone fusion involving the shinbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bone fusion involving the shinbone @@ -163700,19 +164994,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the epiphyses Abnormal shape of end part of bone - - orcid.org/0000-0001-5208-3432 - Abnormal shape of end part of bone - - - - An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. HPO:probinson + + Abnormal shape of end part of bone + ORCID:0000-0001-5208-3432 + + + + @@ -163743,7 +165037,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Imperfect vocal cord adduction - + HP:0005934 UMLS:C4025101 human_phenotype @@ -163841,7 +165135,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Breathing cessation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Breathing cessation @@ -163862,6 +165156,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4021610 human_phenotype Absent lungs + Fyler:4206 Bilateral lack of development of the lungs. @@ -163943,6 +165238,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Decreased sensitivity to hypoxaemia + + Decreased sensitivity to hypoxemia + + + + HPO:probinson Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. @@ -163951,16 +165252,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased sensitivity to hypoxaemia - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - - Decreased sensitivity to hypoxemia - - - - @@ -164050,8 +165345,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased lung function + ORCID:0000-0001-6908-9849 Decreased lung function - http://orcid.org/0000-0001-6908-9849 @@ -164127,20 +165422,20 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Breathing difficulty - Breathing difficulty + Difficult to breathe - Abnormal breathing - http://orcid.org/0000-0001-6908-9849 + Breathing difficulty - Difficult to breathe + ORCID:0000-0001-6908-9849 + Abnormal breathing @@ -164231,19 +165526,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Low blood arginine levels - - orcid.org/0000-0001-5208-3432 - Low blood arginine levels - - - - A decreased concentration of arginine in the blood. HPO:gcarletti + + Low blood arginine levels + ORCID:0000-0001-5208-3432 + + + + @@ -164261,7 +165556,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Intermittent abnormally low body temperature - http://orcid.org/0000-0001-6908-9849 + Episodes of reduced body termperature. + HPO:probinson + + + + + ORCID:0000-0001-6908-9849 Intermittent abnormally low body temperature @@ -164273,12 +165574,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Episodes of reduced body termperature. - HPO:probinson - - - @@ -164307,18 +165602,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C3279038 human_phenotype - - Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. - HPO:curators - - - Temperature instability + + Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. + HPO:curators + + + Body temperature instability HPO:skoehler @@ -164436,6 +165731,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Type 2 diabetes NIDDM + + Type 2 diabetes + + + + Type II diabetes @@ -164449,8 +165750,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:skoehler NIDDM + HPO:skoehler @@ -164461,12 +165762,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Type 2 diabetes - - - - @@ -164565,8 +165860,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Restricted neck movement + ORCID:0000-0001-5889-4463 Limited neck mobility - orcid.org/0000-0001-5889-4463 @@ -164677,26 +165972,26 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Excess neck skin - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Redundant skin folds of neck + Excess skin over the neck + ORCID:0000-0001-5889-4463 - Redundant skin over the neck + Redundant skin folds of neck - orcid.org/0000-0001-5889-4463 - Excess skin over the neck + Redundant skin over the neck @@ -164758,14 +166053,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Limited neck flexibility + ORCID:0000-0001-5889-4463 Limited cervical flexion - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Limited neck flexibility + ORCID:0000-0001-5889-4463 @@ -164844,7 +166139,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Loss of fat around neck - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -164872,8 +166167,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Restricted neck mobility due to contractures - orcid.org/0000-0001-5889-4463 @@ -164953,6 +166248,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w SNOMEDCT_US:20018005 UMLS:C0041956 human_phenotype + Fyler:4492 HPO:probinson @@ -164975,7 +166271,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Degeneration of small hand muscles - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -164995,8 +166291,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short digits on one side - http://orcid.org/0000-0001-5208-3432 Short digits on one side + ORCID:0000-0001-5208-3432 @@ -165042,8 +166338,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide digital bones - http://orcid.org/0000-0001-5208-3432 Wide digital bones + ORCID:0000-0001-5208-3432 @@ -165077,7 +166373,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short, cube shaped long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -165096,8 +166392,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broad shaft of long bone of hand - orcid.org/0000-0001-5208-3432 Broad shaft of long bone of hand + ORCID:0000-0001-5208-3432 @@ -165136,7 +166432,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormally shaped wrist bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormally shaped wrist bones @@ -165188,7 +166484,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Delayed bone maturation of end part of digital bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Delayed bone maturation of end part of digital bone @@ -165214,8 +166510,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased space in hinge joint + ORCID:0000-0001-5208-3432 Decreased space in hinge joint - http://orcid.org/0000-0001-5208-3432 @@ -165254,8 +166550,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Rounded end part of bone + ORCID:0000-0001-5208-3432 Rounded end part of bone - orcid.org/0000-0001-5208-3432 @@ -165303,8 +166599,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Cupping of wide portion of long bone of hand + ORCID:0000-0001-5208-3432 @@ -165355,8 +166651,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cone-shaped end part of digital bones 2 to 5 + ORCID:0000-0001-5208-3432 Cone-shaped end part of digital bones 2 to 5 - orcid.org/0000-0001-5208-3432 @@ -165395,7 +166691,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Long 2nd long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Long 2nd long bone of hand @@ -165437,7 +166733,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Y-shaped long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -165462,7 +166758,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short pointed digital bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short pointed digital bones @@ -165503,18 +166799,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide outermost end of long bone - Abnormal increase in width of the distal region of the metacarpal bones. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide outermost end of long bone + + Abnormal increase in width of the distal region of the metacarpal bones. + HPO:curators + + + @@ -165576,19 +166872,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Cone-shaped end part of long bone - - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of long bone - - - - A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. HPO:curators + + ORCID:0000-0001-5208-3432 + Cone-shaped end part of long bone + + + + @@ -165604,7 +166900,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Tombstone-shaped innermost digital bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -165624,8 +166920,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Limited movement of hinge joints + ORCID:0000-0001-5208-3432 Limited movement of hinge joints - orcid.org/0000-0001-5208-3432 @@ -165728,7 +167024,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Severe delay in maturation of wrist bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Severe delay in maturation of wrist bone @@ -165801,8 +167097,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Webbed 1-5 fingers + ORCID:0000-0001-5208-3432 Webbed 1-5 fingers - http://orcid.org/0000-0001-5208-3432 @@ -165823,7 +167119,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Excessive sweating of hands - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -165843,7 +167139,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Incorrect alignment of wrist bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Incorrect alignment of wrist bone @@ -165902,8 +167198,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased mobility in finger joint + ORCID:0000-0001-5208-3432 Increased mobility in finger joint - orcid.org/0000-0001-5208-3432 @@ -165922,7 +167218,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide tips of outermost digital bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide tips of outermost digital bone @@ -165968,19 +167264,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Webbed 3rd-4th fingers - - HPO:sdoelken - Syndactyly with fusion of fingers three and four. - - - Webbed 3rd-4th fingers - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Syndactyly with fusion of fingers three and four. + + + @@ -166097,18 +167393,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small dilated blood vessels in fingerpads - HPO:curators - Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. - - - - + ORCID:0000-0001-5208-3432 Small dilated blood vessels in fingerpads - http://orcid.org/0000-0001-5208-3432 + + HPO:curators + Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. + + + @@ -166143,19 +167439,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Tapered long bones of hand - - Tapered long bones of hand - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Metacarpal that becomes thinner toward the distal end. + + ORCID:0000-0001-5208-3432 + Tapered long bones of hand + + + + @@ -166195,7 +167491,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Shortened middle finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Shortened middle finger bones @@ -166254,7 +167550,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Multiple palm lines - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Multiple palm lines @@ -166283,18 +167579,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Shortening of all outermost bones of the fingers - HPO:probinson - Hypoplasia of all of the distal phalanx of finger. - - - - - orcid.org/0000-0001-5208-3432 Shortening of all outermost bones of the fingers + ORCID:0000-0001-5208-3432 + + HPO:probinson + Hypoplasia of all of the distal phalanx of finger. + + + @@ -166313,12 +167609,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HPO:sdoelken - Pointed proximal metacarpals + Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. - + - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Pointed innermost long bone of hand @@ -166326,9 +167622,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HPO:sdoelken - Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. + Pointed proximal metacarpals - + @@ -166385,7 +167681,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Long innermost finger bone @@ -166413,7 +167709,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Drumstick shaped digital bones @@ -166454,19 +167750,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Enlarged end part of long bone of hand - - Abnormally large size of the metaphyseal epiphyses. - HPO:curators - - - Enlarged end part of long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Abnormally large size of the metaphyseal epiphyses. + HPO:curators + + + @@ -166482,14 +167778,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased finger movement - Decreased finger movement - http://orcid.org/0000-0001-5208-3432 + Decreased finger mobility - Decreased finger mobility + ORCID:0000-0001-5208-3432 + Decreased finger movement @@ -166521,19 +167817,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Premature fusion of end part of digital bone - - orcid.org/0000-0001-5208-3432 - Premature fusion of end part of digital bone - - - - Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. HPO:probinson + + ORCID:0000-0001-5208-3432 + Premature fusion of end part of digital bone + + + + @@ -166561,19 +167857,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Shortening of all innermost bones of the fingers - - orcid.org/0000-0001-5208-3432 - Shortening of all innermost bones of the fingers - - - - Congenital hypoplasia of proximal phalanx of finger of all fingers. HPO:probinson + + ORCID:0000-0001-5208-3432 + Shortening of all innermost bones of the fingers + + + + @@ -166589,7 +167885,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Y-shaped central long bones of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Y-shaped central long bones of hand @@ -166636,8 +167932,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broad end part of long bone of hand - orcid.org/0000-0001-5208-3432 Broad end part of long bone of hand + ORCID:0000-0001-5208-3432 @@ -166733,19 +168029,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Fused innermost hinge joints - - HPO:sdoelken - The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. - - - Fused innermost hinge joints - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. + + + @@ -166761,7 +168057,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Disharmonious wrist bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -166806,7 +168102,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Long finger bone @@ -166857,8 +168153,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - http://orcid.org/0000-0001-5208-3432 Curved thumb deviated towards palm + ORCID:0000-0001-5208-3432 @@ -166898,8 +168194,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Prominent life line + ORCID:0000-0001-5208-3432 Prominent life line - http://orcid.org/0000-0001-5208-3432 @@ -166984,7 +168280,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular long bones of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular long bones of hand @@ -167010,8 +168306,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short long bone of hand with rounded innermost ends + ORCID:0000-0001-5208-3432 Short long bone of hand with rounded innermost ends - orcid.org/0000-0001-5208-3432 @@ -167031,7 +168327,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Soft tissue swelling of hinge joints - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -167121,8 +168417,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cylindrical shaped long bones of hand + ORCID:0000-0001-5208-3432 Cylindrical shaped long bones of hand - orcid.org/0000-0001-5208-3432 @@ -167161,8 +168457,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Prominent innermost hinge joints - orcid.org/0000-0001-5208-3432 Prominent innermost hinge joints + ORCID:0000-0001-5208-3432 @@ -167200,19 +168496,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Chess-pawn shaped outermost bone - - Chess-pawn shaped outermost bone - orcid.org/0000-0001-5208-3432 - - - - A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. HPO:probinson + + ORCID:0000-0001-5208-3432 + Chess-pawn shaped outermost bone + + + + @@ -167228,7 +168524,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Flattened, squared-off end part of tubular bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Flattened, squared-off end part of tubular bones @@ -167271,7 +168567,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Thickening of connective tissue of innermost finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -167352,8 +168648,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Extra bone on end of second long bone of hand - http://orcid.org/0000-0001-5208-3432 Extra bone on end of second long bone of hand + ORCID:0000-0001-5208-3432 @@ -167392,7 +168688,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Crowded wrist bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Crowded wrist bones @@ -167437,15 +168733,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Shallow palm line - - Shallow palmar creases - HPO:skoehler - - - Shallow palm line - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -167456,6 +168746,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + HPO:skoehler + Shallow palmar creases + + + @@ -167490,8 +168786,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Enlarged innermost hinge joint + ORCID:0000-0001-5208-3432 Enlarged innermost hinge joint - orcid.org/0000-0001-5208-3432 @@ -167569,7 +168865,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Deep palm line @@ -167616,18 +168912,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Tapered finger bone - HPO:probinson - Phalanges of the fingers becoming thinner toward the distal end. - - - - - orcid.org/0000-0001-5208-3432 Tapered finger bone + ORCID:0000-0001-5208-3432 + + HPO:probinson + Phalanges of the fingers becoming thinner toward the distal end. + + + @@ -167642,19 +168938,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Thimble-shaped middle bones of hand - - orcid.org/0000-0001-5208-3432 - Thimble-shaped middle bones of hand - - - - HPO:probinson The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. + + ORCID:0000-0001-5208-3432 + Thimble-shaped middle bones of hand + + + + @@ -167669,7 +168965,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Widened outermost bone of limb - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Widened outermost bone of limb @@ -167709,8 +169005,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased mobility of outermost hinge joint + ORCID:0000-0001-5208-3432 Increased mobility of outermost hinge joint - orcid.org/0000-0001-5208-3432 @@ -167763,8 +169059,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased range of movement range in hinge joints + ORCID:0000-0001-5208-3432 Decreased range of movement range in hinge joints - orcid.org/0000-0001-5208-3432 @@ -167784,18 +169080,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular finger bones - Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. - HPO:probinson - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Irregular finger bones + + Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. + HPO:probinson + + + @@ -167881,8 +169177,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Partial-complete absence of 5th digital bone + ORCID:0000-0001-5208-3432 Partial-complete absence of 5th digital bone - orcid.org/0000-0001-5208-3432 @@ -167917,8 +169213,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Thin innermost bone with broad end part of the hand bone + ORCID:0000-0001-5208-3432 Thin innermost bone with broad end part of the hand bone - orcid.org/0000-0001-5208-3432 @@ -167959,7 +169255,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Limited mobility of innermost hinge joint - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -168125,19 +169421,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Slender long bones of hand - - Decreased width of the metacarpal bones (that is, reduced diameter). - HPO:probinson - - - Slender long bones of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Decreased width of the metacarpal bones (that is, reduced diameter). + HPO:probinson + + + @@ -168172,8 +169468,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Prominent hinge joints - orcid.org/0000-0001-5208-3432 Prominent hinge joints + ORCID:0000-0001-5208-3432 @@ -168194,7 +169490,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Shortening of all the middle bones of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Shortening of all the middle bones of the toes @@ -168255,7 +169551,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Enlarged hinge joints - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -168283,18 +169579,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Limited movement of the wrist - - - - An abnormal limitation of the mobility of the wrist. HPO:probinson + + Limited movement of the wrist + + + + @@ -168354,7 +169650,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Swelling of innermost hinge joints - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -168495,8 +169791,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal ankle bone maturation + ORCID:0000-0001-5208-3432 Abnormal ankle bone maturation - http://orcid.org/0000-0001-5208-3432 @@ -168581,27 +169877,34 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small pinky finger Absent/underdeveloped pinky finger Absent/underdeveloped little finger - Absent/underdeveloped pinkie finger Absent/small little finger + Absent/underdeveloped pinkie finger Absent/small pinkie finger + ORCID:0000-0001-5208-3432 Absent/underdeveloped pinkie finger - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/small pinky finger + ORCID:0000-0001-5208-3432 + Absent/underdeveloped little finger - Absent/underdeveloped little finger - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped pinky finger + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Absent/small pinkie finger @@ -168613,26 +169916,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Absent/small pinkie finger - orcid.org/0000-0001-5208-3432 + Absent/small pinky finger + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small little finger - - Absent/underdeveloped pinky finger - orcid.org/0000-0001-5208-3432 - - - - @@ -168687,7 +169983,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the index finger bone @@ -168732,8 +170028,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small index finger - Absent/small index finger - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped index finger @@ -168745,8 +170041,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Absent/underdeveloped index finger - http://orcid.org/0000-0001-5208-3432 + Absent/small index finger + ORCID:0000-0001-5208-3432 @@ -168790,25 +170086,25 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small fingers - orcid.org/0000-0001-5208-3432 + HPO:curators + Small/hypoplastic or absent/aplastic fingers. + + + + + ORCID:0000-0001-5208-3432 Absent/underdeveloped fingers - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small fingers - - HPO:curators - Small/hypoplastic or absent/aplastic fingers. - - - @@ -168844,18 +170140,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0566694 human_phenotype - - HPO:probinson - Reduced size of the placenta. - - - Small placenta + + HPO:probinson + Reduced size of the placenta. + + + @@ -168892,18 +170188,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0566693 human_phenotype - - Large placenta - - - - HPO:probinson Increased size of the placenta. + + Large placenta + + + + @@ -168964,7 +170260,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Underdeveloped spleen @@ -169163,8 +170459,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Abnormal pancreas location - orcid.org/0000-0001-5208-3432 @@ -169250,8 +170546,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Chronic pancreas inflammation + ORCID:0000-0001-5208-3432 Chronic pancreas inflammation - orcid.org/0000-0001-5208-3432 @@ -169303,20 +170599,20 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Generalized dysplasia of tooth enamel - A generalized form of developmental hypoplasia of the dental enamel. - HPO:ibailleulforestier + Generalized dysplasia of tooth enamel + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Generalized dysplasia of tooth enamel + A generalized form of developmental hypoplasia of the dental enamel. + HPO:ibailleulforestier - + + ORCID:0000-0001-5889-4463 Generalized hypoplasia of tooth enamel - orcid.org/0000-0001-5889-4463 @@ -169337,15 +170633,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Failure of eruption of multiple teeth - Multiple unerupted teeth + Failure of eruption of multiple teeth + ORCID:0000-0001-5889-4463 - - Failure of eruption of multiple teeth - orcid.org/0000-0001-5889-4463 + Multiple unerupted teeth + @@ -169356,7 +170652,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Multiple non-erupting teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -169406,41 +170702,41 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Mottled tooth enamel - White spot lesions of tooth enamel - orcid.org/0000-0001-5889-4463 + A decreased amount of enamel mineralization. + HPO:probinson - + - orcid.org/0000-0001-5889-4463 - Increased porosity of tooth enamel + ORCID:0000-0001-5889-4463 + White spot lesions of tooth enamel - + - orcid.org/0000-0001-5889-4463 - Mottled tooth enamel + ORCID:0000-0001-5889-4463 + Poorly mineralized tooth enamel + - Poorly mineralized tooth enamel - orcid.org/0000-0001-5889-4463 + Fluorosis of tooth enamel + ORCID:0000-0001-5889-4463 - - + - A decreased amount of enamel mineralization. - HPO:probinson + ORCID:0000-0001-5889-4463 + Increased porosity of tooth enamel - + - Fluorosis of tooth enamel - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Mottled tooth enamel - + @@ -169458,20 +170754,20 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Yellow-brown discolored teeth - Yellow-brown tooth shade - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Yellow-brown discolored teeth + - Yellow-brown discoloration of the teeth + Yellow-brown tooth shade + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Yellow-brown discolored teeth + Yellow-brown discoloration of the teeth @@ -169500,35 +170796,35 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Advanced dental eruption - HPO:ibailleulforestier - Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Premature dental eruption - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Early dental eruption - orcid.org/0000-0001-5889-4463 - Early eruption of teeth + Advanced dental eruption + ORCID:0000-0001-5889-4463 - - Premature dental eruption - orcid.org/0000-0001-5889-4463 + HPO:ibailleulforestier + Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. + pmid:19125428 - + - orcid.org/0000-0001-5889-4463 - Advanced dental eruption + Early eruption of teeth + ORCID:0000-0001-5889-4463 + @@ -169571,10 +170867,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Failure of development of central incisor - Missing central incisors + Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. + HPO:ibailleulforestier - - + Absent central incisors @@ -169583,22 +170879,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Absent central incisor + ORCID:0000-0001-5889-4463 + Failure of development of central incisor - - Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. - HPO:ibailleulforestier + Absent central incisor - + + - Failure of development of central incisor - orcid.org/0000-0001-5889-4463 + Missing central incisors - + + @@ -169619,36 +170915,36 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of color of front teeth - orcid.org/0000-0001-5889-4463 - Abnormality of color of lateral incisor + Discolored front teeth + ORCID:0000-0001-5889-4463 + - Abnormality of shade of lateral incisor - orcid.org/0000-0001-5889-4463 + Abnormality of color of lateral incisor + ORCID:0000-0001-5889-4463 - HPO:ibailleulforestier - The presence of discolored lateral incisors. + Abnormality of color of front teeth + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Discolored front teeth + ORCID:0000-0001-5889-4463 + Abnormality of shade of lateral incisor - - Abnormality of color of front teeth - orcid.org/0000-0001-5889-4463 + HPO:ibailleulforestier + The presence of discolored lateral incisors. - - + @@ -169667,29 +170963,29 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Very late eruption of permanent teeth - orcid.org/0000-0001-5889-4463 - Very late eruption of permanent teeth + ORCID:0000-0001-5889-4463 + Very late eruption of adult teeth Severe delay of eruption of permanent teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Severe delay of eruption of adult teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Very late eruption of adult teeth + ORCID:0000-0001-5889-4463 + Very late eruption of permanent teeth @@ -169721,31 +171017,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Disorder of dental eruption - Disorder of dental eruption - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 Abnormality of tooth eruption + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Disturbance of tooth eruption - orcid.org/0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Disturbance of dental eruption - - - An abnormality of tooth eruption. HPO:ibailleulforestier @@ -169753,20 +171037,32 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Anomaly of tooth eruption - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Disorder of dental eruption + + + + + ORCID:0000-0001-5889-4463 + Disturbance of dental eruption + + + + + Disorder of tooth eruption + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Anomaly of dental eruption - orcid.org/0000-0001-5889-4463 - Disorder of tooth eruption + ORCID:0000-0001-5889-4463 + Anomaly of tooth eruption @@ -169809,15 +171105,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absence of maxillary central incisor Missing maxillary central incisor - - orcid.org/0000-0001-5889-4463 - Failure of development of maxillary central incisor - - - Missing upper central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -169830,16 +171120,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absence of maxillary central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Missing maxillary central incisor - orcid.org/0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + Failure of development of maxillary central incisor + + + @@ -169894,42 +171190,42 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hypoplasia of tooth enamel - Thin dental enamel + Developmental hypoplasia of the dental enamel. + HPO:ibailleulforestier + pmid:18499550 - - + - Dysplasia of tooth enamel - orcid.org/0000-0001-5889-4463 + Defective enamel matrix + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Defective enamel matrix + Thin dental enamel + - orcid.org/0000-0001-5889-4463 Thin tooth enamel + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypoplasia of tooth enamel - orcid.org/0000-0001-5889-4463 - Developmental hypoplasia of the dental enamel. - HPO:ibailleulforestier - pmid:18499550 + Dysplasia of tooth enamel + ORCID:0000-0001-5889-4463 - + @@ -169974,23 +171270,23 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Dagger shaped pulp stones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Dagger shaped pulp stones - - orcid.org/0000-0001-5889-4463 - Dagger shaped pulp denticles - - - Dagger-shaped calcifications in the dental pulp. HPO:ibailleulforestier + + Dagger shaped pulp denticles + ORCID:0000-0001-5889-4463 + + + @@ -170011,33 +171307,33 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Gap between front teeth - orcid.org/0000-0001-5889-4463 - Widely spaced front teeth + ORCID:0000-0001-5889-4463 + Gap between front teeth - orcid.org/0000-0001-5889-4463 Diastema between incisors + ORCID:0000-0001-5889-4463 - Diastema between front teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anterior diastema of teeth - + - orcid.org/0000-0001-5889-4463 - Anterior diastema of teeth + Diastema between front teeth + ORCID:0000-0001-5889-4463 - + - Gap between front teeth - orcid.org/0000-0001-5889-4463 + Widely spaced front teeth + ORCID:0000-0001-5889-4463 @@ -170089,72 +171385,72 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Shrinking of alveolar ridges - orcid.org/0000-0001-5889-4463 - Atrophy of alveolar margins + Flattening of gum ridges + ORCID:0000-0001-5889-4463 - + + - Shrinking of gum ridges - orcid.org/0000-0001-5889-4463 + Atrophy of alveolar processes of jaw + ORCID:0000-0001-5889-4463 - - Atrophy of alveolar processes of jaw - orcid.org/0000-0001-5889-4463 + Flattening of alveolar processes of jaw + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Shrinking of alveolar ridges + ORCID:0000-0001-5889-4463 + Shrinking of gum ridges + - Flattening of alveolar processes of jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Flattening of alveolar margin - orcid.org/0000-0001-5889-4463 - Resorption of alveolar margins + Flattening of alveolar ridges + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Flattening of alveolar margin + Resorption of alveolar ridges + ORCID:0000-0001-5889-4463 - + - Resorption of alveolar processes of jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Atrophy of alveolar margins - orcid.org/0000-0001-5889-4463 - Resorption of alveolar ridges + ORCID:0000-0001-5889-4463 + Shrinking of alveolar ridges - Flattening of alveolar ridges - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Resorption of alveolar margins - + - orcid.org/0000-0001-5889-4463 - Flattening of gum ridges + ORCID:0000-0001-5889-4463 + Resorption of alveolar processes of jaw - - + @@ -170175,43 +171471,43 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased tooth mass - orcid.org/0000-0001-5889-4463 - Decreased width of all teeth + A generalized form of microdontia. + HPO:ibailleulforestier - - + - orcid.org/0000-0001-5889-4463 - Hypotrophy of all teeth + Decreased size of all teeth + ORCID:0000-0001-5889-4463 + - A generalized form of microdontia. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Tooth mass insufficiency - + - orcid.org/0000-0001-5889-4463 - Decreased tooth mass + Decreased width of all teeth + ORCID:0000-0001-5889-4463 - Decreased size of all teeth - orcid.org/0000-0001-5889-4463 + Hypotrophy of all teeth + ORCID:0000-0001-5889-4463 - - Tooth mass insufficiency - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased tooth mass - + + @@ -170234,42 +171530,42 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Generalized spacing of primary teeth - Generalized spacing of primary teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Wide gaps between baby teeth + + ORCID:0000-0001-5889-4463 Widely spaced milk teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Wide gaps between primary teeth - orcid.org/0000-0001-5889-4463 - - HPO:ibailleulforestier - Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. - - - Widely spaced baby teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Wide gaps between baby teeth - orcid.org/0000-0001-5889-4463 + HPO:ibailleulforestier + Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. + + + + + ORCID:0000-0001-5889-4463 + Generalized spacing of primary teeth - @@ -170303,38 +171599,38 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Solitary median maxillary central incisor + ORCID:0000-0001-5889-4463 + Solitary median maxillary central incisor syndrome - + + ORCID:0000-0001-5889-4463 Solitary midline maxillary central incisor - orcid.org/0000-0001-5889-4463 - The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Single midline maxillary incisor - + - orcid.org/0000-0001-5889-4463 - Single midline maxillary incisor + ORCID:0000-0001-5889-4463 + Single midline upper front tooth - orcid.org/0000-0001-5889-4463 - Solitary median maxillary central incisor syndrome + The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor. + pmid:19125428 - + - orcid.org/0000-0001-5889-4463 - Single midline upper front tooth + ORCID:0000-0001-5889-4463 + Solitary median maxillary central incisor @@ -170356,6 +171652,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular dental spacing Variability of dental spacing + + ORCID:0000-0001-5889-4463 + Variability of spacing between teeth + + + + HPO:ibailleulforestier Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. @@ -170363,18 +171666,11 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Variability of dental spacing - orcid.org/0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Variability of spacing between teeth - - - - Irregularly spaced teeth @@ -170382,8 +171678,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 Irregular dental spacing + ORCID:0000-0001-5889-4463 @@ -170407,38 +171703,38 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Failure of eruption of multiple adult teeth - Failure of eruption of multiple permanent teeth - orcid.org/0000-0001-5889-4463 + Multiple non-erupting adult teeth + ORCID:0000-0001-5889-4463 - Multiple non-erupting permanent teeth - orcid.org/0000-0001-5889-4463 + Failure of eruption of multiple permanent teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of eruption of multiple adult teeth + ORCID:0000-0001-5889-4463 + Multiple unerupted adult teeth Multiple unerupted permanent teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Multiple unerupted adult teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Failure of eruption of multiple adult teeth - orcid.org/0000-0001-5889-4463 - Multiple non-erupting adult teeth + Multiple non-erupting permanent teeth + ORCID:0000-0001-5889-4463 @@ -170471,16 +171767,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Premature exfoliation of primary teeth - orcid.org/0000-0001-5889-4463 - - - - - Premature loss of baby teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Early loss of primary teeth - @@ -170490,28 +171779,35 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 Premature exfoliation of deciduous teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Early loss of baby teeth + Premature exfoliation of primary teeth + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 + Premature loss of baby teeth - orcid.org/0000-0001-5889-4463 - Early loss of primary teeth + Early loss of deciduous teeth + ORCID:0000-0001-5889-4463 - Early loss of deciduous teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Early loss of baby teeth + @@ -170532,32 +171828,32 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Impacted teeth due to mucopolysaccharidoses - orcid.org/0000-0001-5889-4463 - Unerupted dentition due to mucopolysaccharidoses + Impacted teeth due to mucopolysaccharidoses + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of dental eruption due to mucopolysaccharidoses + Failure of tooth eruption due to mucopolysaccharidoses + ORCID:0000-0001-5889-4463 - Failure of tooth eruption due to mucopolysaccharidoses - orcid.org/0000-0001-5889-4463 + Unerupted teeth due to mucopolysaccharidoses + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Impacted teeth due to mucopolysaccharidoses + Unerupted dentition due to mucopolysaccharidoses + ORCID:0000-0001-5889-4463 - Unerupted teeth due to mucopolysaccharidoses - orcid.org/0000-0001-5889-4463 + Failure of dental eruption due to mucopolysaccharidoses + ORCID:0000-0001-5889-4463 @@ -170594,14 +171890,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hypotrophic alveolar process of jaw - Underdevelopment of alveolar ridge - orcid.org/0000-0001-5889-4463 - - - - - Decreased size of alveolar ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of alveolar process of jaw @@ -170612,53 +171902,59 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Underdevelopment of alveolar process of jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small alveolar ridge - Hypotrophic alveolar process of jaw - orcid.org/0000-0001-5889-4463 + Small alveolar process of jaw + ORCID:0000-0001-5889-4463 - + - Deficiency of alveolar process of jaw - orcid.org/0000-0001-5889-4463 + Underdevelopment of alveolar ridge + ORCID:0000-0001-5889-4463 - + - Small alveolar process of jaw - orcid.org/0000-0001-5889-4463 + Deficiency of alveolar process of jaw + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Hypotrophic alveolar ridge + ORCID:0000-0001-5889-4463 + Hypotrophic alveolar process of jaw - Deficiency of alveolar ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypotrophic alveolar ridge Decreased size of alveolar process of jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Small alveolar ridge + Decreased size of alveolar ridge + ORCID:0000-0001-5889-4463 + + Deficiency of alveolar ridge + ORCID:0000-0001-5889-4463 + + + @@ -170676,29 +171972,29 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Turned upper front teeth - orcid.org/0000-0001-5889-4463 - Twisted upper front teeth + ORCID:0000-0001-5889-4463 + Turned upper front teeth Rotated upper central incisors - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Rotated upper front teeth + ORCID:0000-0001-5889-4463 - Turned upper front teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Twisted upper front teeth @@ -170719,7 +172015,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Extra upper front tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Extra upper front tooth @@ -170749,33 +172045,33 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Overlapped maxillary incisors - A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Crowded upper front teeth - + + - Crowded upper incisors + A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. + HPO:ibailleulforestier - - + - orcid.org/0000-0001-5889-4463 - Crowded upper front teeth + Overlapped upper front teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Overlapped maxillary incisors + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Overlapped upper front teeth + Crowded upper incisors @@ -170827,75 +172123,75 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdevelopment of milk teeth - Underdevelopment of primary teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small primary teeth - Decreased size of primary teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased size of deciduous teeth - Decreased size of baby teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of baby teeth - Developmental hypoplasia of the primary teeth. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Decreased size of milk teeth - + + - orcid.org/0000-0001-5889-4463 - Underdevelopment of baby teeth + ORCID:0000-0001-5889-4463 + Underdevelopment of milk teeth - orcid.org/0000-0001-5889-4463 - Small milk teeth + Decreased size of baby teeth + ORCID:0000-0001-5889-4463 - Underdevelopment of milk teeth - orcid.org/0000-0001-5889-4463 + Decreased size of primary teeth + ORCID:0000-0001-5889-4463 - - Decreased size of deciduous teeth - orcid.org/0000-0001-5889-4463 + Underdevelopment of primary teeth + ORCID:0000-0001-5889-4463 - Decreased size of milk teeth - orcid.org/0000-0001-5889-4463 + Developmental hypoplasia of the primary teeth. + HPO:ibailleulforestier - - + - orcid.org/0000-0001-5889-4463 - Small baby teeth + Small milk teeth + ORCID:0000-0001-5889-4463 - Small primary teeth - orcid.org/0000-0001-5889-4463 + Small baby teeth + ORCID:0000-0001-5889-4463 + @@ -170954,15 +172250,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Retained baby teeth - orcid.org/0000-0001-5889-4463 - Failure to exfoliate primary teeth - - - - - Failure to exfoliate deciduous teeth - orcid.org/0000-0001-5889-4463 + Retained baby teeth + ORCID:0000-0001-5889-4463 + @@ -170972,44 +172263,49 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Retained primary teeth - orcid.org/0000-0001-5889-4463 - Retained baby teeth + Delayed loss of baby teeth + ORCID:0000-0001-5889-4463 - Failure to lose baby teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Persistent deciduous dentition - + ORCID:0000-0001-5889-4463 Delayed loss of deciduous teeth - orcid.org/0000-0001-5889-4463 - Delayed loss of baby teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Failure to exfoliate deciduous teeth - - Persistent deciduous dentition - orcid.org/0000-0001-5889-4463 + Failure to exfoliate primary teeth + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + Failure to lose baby teeth + + + + @@ -171050,50 +172346,50 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped tooth roots - Underdeveloped dental roots + Short dental roots - HPO:probinson - Short dental root. - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Short tooth roots - orcid.org/0000-0001-5889-4463 - Decreased length of tooth roots + ORCID:0000-0001-5889-4463 + Underdeveloped tooth roots - + - Short dental roots + ORCID:0000-0001-5889-4463 + Decreased length of dental roots - Decreased length of dental roots - orcid.org/0000-0001-5889-4463 + HPO:probinson + Short dental root. + + + + + ORCID:0000-0001-5889-4463 + Decreased length of tooth roots - orcid.org/0000-0001-5889-4463 - Underdeveloped tooth roots + Underdeveloped dental roots - + @@ -171116,32 +172412,32 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 + HPO:ibailleulforestier + Premature tooth eruption of the permanent dentition. + + + + + ORCID:0000-0001-5889-4463 Early eruption of adult teeth - orcid.org/0000-0001-5889-4463 Early eruption of permanent teeth + ORCID:0000-0001-5889-4463 Premature eruption of adult teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - - HPO:ibailleulforestier - Premature tooth eruption of the permanent dentition. - - - @@ -171178,23 +172474,23 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Malformation of mandibular bicuspid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Malformation of lower premolar - An abnormality of themorphology of secondary premolar tooth. - HPO:ibailleulforestier + Malformation of mandibular bicuspid + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Malformation of mandibular bicuspid + An abnormality of themorphology of secondary premolar tooth. + HPO:ibailleulforestier - + @@ -171239,49 +172535,49 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Peg shaped lower front tooth - Peg shaped mandibular incisor - orcid.org/0000-0001-5889-4463 + Pointed mandibular incisor + ORCID:0000-0001-5889-4463 - Conoid mandibular incisor - orcid.org/0000-0001-5889-4463 + Lower front shark tooth + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Pointed mandibular incisor + ORCID:0000-0001-5889-4463 + Peg shaped lower front tooth + - An abnormal conical morphology of the primary or permanent mandibular incisors. - HPO:ibailleulforestier + Cone shaped lower front tooth + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Peg shaped lower front tooth + ORCID:0000-0001-5889-4463 + Peg shaped mandibular incisor - - Lower front shark tooth - orcid.org/0000-0001-5889-4463 + Conoid mandibular incisor + ORCID:0000-0001-5889-4463 - - Cone shaped lower front tooth - orcid.org/0000-0001-5889-4463 + An abnormal conical morphology of the primary or permanent mandibular incisors. + HPO:ibailleulforestier - - + @@ -171303,46 +172599,46 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Peg shaped upper lateral incisors - orcid.org/0000-0001-5889-4463 - Conical maxillary lateral incisors + HPO:ibailleulforestier + Peg-shaped upper lateral secondary incisor tooth. - + - Conoid upper lateral incisors - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Peg laterals + + + + + ORCID:0000-0001-5889-4463 + Cone shaped upper lateral incisors - orcid.org/0000-0001-5889-4463 Peg shaped upper lateral incisors + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Pointed upper lateral incisors + ORCID:0000-0001-5889-4463 + Conical maxillary lateral incisors - orcid.org/0000-0001-5889-4463 - Peg laterals - - - - - orcid.org/0000-0001-5889-4463 - Cone shaped upper lateral incisors + ORCID:0000-0001-5889-4463 + Pointed upper lateral incisors - HPO:ibailleulforestier - Peg-shaped upper lateral secondary incisor tooth. + ORCID:0000-0001-5889-4463 + Conoid upper lateral incisors - + @@ -171382,29 +172678,29 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of shape of baby molar - Abnormality of shape of primary molar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of shape of baby molar + - Abnormality of shape of baby molar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of deciduous molar morphology - - An abnormality of morphology of primary molar. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Abnormality of shape of primary molar - + - orcid.org/0000-0001-5889-4463 - Abnormality of deciduous molar morphology + An abnormality of morphology of primary molar. + HPO:ibailleulforestier - + @@ -171442,14 +172738,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Screwdriver shaped front teeth + ORCID:0000-0001-5889-4463 Screwdriver shaped front teeth - orcid.org/0000-0001-5889-4463 - - - - - - Screwdriver-shaped incisors @@ -171460,6 +172750,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Screwdriver-shaped incisors + + + + @@ -171503,27 +172799,28 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased size of primary tooth - Decreased width of baby teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Microdontia of deciduous teeth - - orcid.org/0000-0001-5889-4463 - Microdontia of deciduous teeth + Decreased width of baby teeth + ORCID:0000-0001-5889-4463 + - Decreased size of primary tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased width of milk teeth - + + + ORCID:0000-0001-5889-4463 Decreased width of deciduous teeth - orcid.org/0000-0001-5889-4463 @@ -171534,16 +172831,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Decreased width of primary tooth - orcid.org/0000-0001-5889-4463 + Decreased size of primary tooth + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Decreased width of milk teeth + Decreased width of primary tooth + ORCID:0000-0001-5889-4463 - @@ -171594,15 +172890,21 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Agenesis of permanent dentition + ORCID:0000-0001-5889-4463 + Agenesis of secondary dentition + + + + + ORCID:0000-0001-5889-4463 Failure of development of secondary teeth - orcid.org/0000-0001-5889-4463 - Agenesis of permanent dentition - orcid.org/0000-0001-5889-4463 + Missing teeth + @@ -171613,20 +172915,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Failure of development of permanent teeth - orcid.org/0000-0001-5889-4463 - - - - - - Missing teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Agenesis of secondary dentition + ORCID:0000-0001-5889-4463 + Agenesis of permanent dentition @@ -171651,32 +172947,32 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Reduced size of pulp chamber of tooth - Obliteration of the pulp chambers owing to mineralization of the dental pulp. - pmid:162890 + Small pulp chamber of tooth + ORCID:0000-0001-5889-4463 - + - Reduced size of pulp chamber of tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pulp canal obliteration - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Narrowing of pulp chamber of tooth - orcid.org/0000-0001-5889-4463 - Small pulp chamber of tooth + Obliteration of the pulp chambers owing to mineralization of the dental pulp. + pmid:162890 - + - Pulp canal obliteration - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Reduced size of pulp chamber of tooth @@ -171701,42 +172997,42 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Failure of eruption of adult teeth - HPO:ibailleulforestier - Lack of tooth eruption of the secondary dentition. + Unerupted permanent dentition + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Unerupted adult dentition + Unerupted permanent teeth + ORCID:0000-0001-5889-4463 + - Unerupted permanent dentition - orcid.org/0000-0001-5889-4463 + Unerupted adult dentition + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Unerupted adult teeth + Failure of eruption of adult teeth + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Unerupted permanent teeth + ORCID:0000-0001-5889-4463 + Unerupted adult teeth - Failure of eruption of adult teeth - orcid.org/0000-0001-5889-4463 + HPO:ibailleulforestier + Lack of tooth eruption of the secondary dentition. - + @@ -171760,49 +173056,49 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdevelopment of tooth germ - Hypotrophic tooth germ - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased size of tooth germ + ORCID:0000-0001-5889-4463 Decreased size of tooth bud - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Small tooth bud + Small tooth germ + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Underdevelopment of tooth bud + Underdevelopment of tooth germ + ORCID:0000-0001-5889-4463 - - Small tooth germ - orcid.org/0000-0001-5889-4463 + Small tooth bud + ORCID:0000-0001-5889-4463 + - Decreased size of tooth germ - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of tooth bud - + + - Underdevelopment of tooth germ - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypotrophic tooth germ - + Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. @@ -171851,42 +173147,42 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Missing lower central incisor - orcid.org/0000-0001-5889-4463 - Absence of mandibular central incisor + ORCID:0000-0001-5889-4463 + Failure of development of mandibular central incisor - + - orcid.org/0000-0001-5889-4463 - Missing mandibular central incisor + Absence of mandibular central incisor + ORCID:0000-0001-5889-4463 - Agenesis of lower secondary incisor or lower primary incisor. - HPO:ibailleulforestier + Missing lower central incisor + ORCID:0000-0001-5889-4463 - + + - Failure of development of mandibular central incisor - orcid.org/0000-0001-5889-4463 + Absence of lower central incisor + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Missing lower central incisor + ORCID:0000-0001-5889-4463 + Missing mandibular central incisor - - Absence of lower central incisor - orcid.org/0000-0001-5889-4463 + Agenesis of lower secondary incisor or lower primary incisor. + HPO:ibailleulforestier - - + @@ -171907,34 +173203,34 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Premature loss of adult teeth - orcid.org/0000-0001-5889-4463 - Early loss of secondary dentition + HPO:ibailleulforestier + Premature loss of the permanent teeth. - + - orcid.org/0000-0001-5889-4463 - Premature loss of adult teeth + Early loss of adult teeth + ORCID:0000-0001-5889-4463 - HPO:ibailleulforestier - Premature loss of the permanent teeth. + Premature loss of adult teeth + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Early loss of permanent teeth + Early loss of secondary dentition + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Early loss of adult teeth + ORCID:0000-0001-5889-4463 + Early loss of permanent teeth @@ -171954,8 +173250,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Shovel-shaped upper front teeth - orcid.org/0000-0001-5889-4463 Shovel-shaped upper front teeth + ORCID:0000-0001-5889-4463 @@ -172001,8 +173297,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular thighbone end part - orcid.org/0000-0001-5208-3432 Irregular thighbone end part + ORCID:0000-0001-5208-3432 @@ -172065,18 +173361,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1970497 human_phenotype - - An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. - HPO:probinson - - - Crumpled long bones + + An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. + HPO:probinson + + + @@ -172225,7 +173521,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad shaft of long bone @@ -172233,7 +173529,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide shaft of long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -172253,19 +173549,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Dumbbell-shaped thighbone - - http://orcid.org/0000-0001-5208-3432 - Dumbbell-shaped thighbone - - - - HPO:probinson The femur is shortened and displays flaring (widening) of the metaphyses. + + ORCID:0000-0001-5208-3432 + Dumbbell-shaped thighbone + + + + @@ -172372,18 +173668,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - - Flexion contractures at both knees - HPO:skoehler - - - A bent (flexed) knee joint that cannot be straightened actively or passively. HPO:probinson + + Flexion contractures at both knees + HPO:skoehler + + + @@ -172426,7 +173722,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small to absent calf bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small to absent calf bone @@ -172469,19 +173765,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. Club-shaped outermost end of thighbone - - Club-shaped outermost end of thighbone - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. + + Club-shaped outermost end of thighbone + ORCID:0000-0001-5208-3432 + + + + @@ -172527,13 +173823,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Short legs + Short lower limbs - Short lower limbs + Short legs @@ -172619,8 +173915,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Broad outermost wide portion of thighbone - orcid.org/0000-0001-5208-3432 @@ -172799,8 +174095,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Flat end part of outermost thighbone + ORCID:0000-0001-5208-3432 Flat end part of outermost thighbone - orcid.org/0000-0001-5208-3432 @@ -172856,7 +174152,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent knee end part - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent knee end part @@ -172896,8 +174192,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short outer part of limbs + ORCID:0000-0001-5208-3432 Short outer part of limbs - http://orcid.org/0000-0001-5208-3432 @@ -172919,17 +174215,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Club-shaped innermost end of thighbone - orcid.org/0000-0001-5208-3432 - Club-shaped innermost end of thighbone + An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. + HPO:probinson - - + - HPO:probinson - An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. + ORCID:0000-0001-5208-3432 + Club-shaped innermost end of thighbone - + + @@ -172967,18 +174263,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Irregular outermost thighbone end part - Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Irregular outermost thighbone end part - orcid.org/0000-0001-5208-3432 + + Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. + HPO:probinson + + + @@ -172993,8 +174289,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Tapering of outermost end of thighbone + ORCID:0000-0001-5208-3432 Tapering of outermost end of thighbone - http://orcid.org/0000-0001-5208-3432 @@ -173053,15 +174349,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broad wide portion of shinbone - Broad wide portion of shankbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Broad wide portion of shinbone - orcid.org/0000-0001-5208-3432 - Broad wide portion of shinbone + ORCID:0000-0001-5208-3432 + Broad wide portion of shankbone @@ -173142,7 +174438,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broad wide portion of thigh bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad wide portion of thigh bone @@ -173300,7 +174596,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide neck of thigh bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -173343,18 +174639,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An anomaly of the metaphysis of the proximal femur (close to the hip). - HPO:probinson - An anomaly of the metaphysis of the proximal femur (close to the hip). - - - - + ORCID:0000-0001-5208-3432 Abnormal wide portion of innermost thighbone - orcid.org/0000-0001-5208-3432 + + HPO:probinson + An anomaly of the metaphysis of the proximal femur (close to the hip). + + + @@ -173402,8 +174698,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Radial longitudinal deficiency - orcid.org/0000-0001-5208-3432 Radial longitudinal deficiency + ORCID:0000-0001-5208-3432 @@ -173465,15 +174761,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Shortening of the shinbone - Shortening of the shinbone - orcid.org/0000-0001-5208-3432 + Shortening of the shankbone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Shortening of the shankbone + Shortening of the shinbone + ORCID:0000-0001-5208-3432 @@ -173533,7 +174829,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Enlargement of the outermost thighbone end part - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -173597,7 +174893,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased density of shaft of long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased density of shaft of long bone @@ -173651,14 +174947,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped innermost upper end of calf bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small innermost upper end of calf bone - http://orcid.org/0000-0001-5208-3432 @@ -173704,19 +175000,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent kneecap - - Absent kneecap - orcid.org/0000-0001-6908-9849 - - - - Absence of the patella. HPO:probinson + + Absent kneecap + ORCID:0000-0001-6908-9849 + + + + @@ -173913,13 +175209,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Delayed bone maturation of the knee cap - - http://orcid.org/0000-0001-5208-3432 - Delayed bone maturation of the knee cap - - - - Formation of bone in the patella later than normal. HPO:probinson @@ -173927,6 +175216,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + ORCID:0000-0001-5208-3432 + Delayed bone maturation of the knee cap + + + + @@ -173970,15 +175266,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 - Irregular innermost shinbone end part + ORCID:0000-0001-5208-3432 + Irregular innermost shankbone end part - orcid.org/0000-0001-5208-3432 - Irregular innermost shankbone end part + Irregular innermost shinbone end part + ORCID:0000-0001-5208-3432 @@ -174077,8 +175373,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Slipped end part of innermost thighbone + ORCID:0000-0001-5208-3432 Slipped end part of innermost thighbone - orcid.org/0000-0001-5208-3432 @@ -174305,7 +175601,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Thin shaft of long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -174442,21 +175738,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of alveolar margin - orcid.org/0000-0001-5889-4463 - Abnormality of alveolar processes of jaw - - - - - orcid.org/0000-0001-5889-4463 - Abnormality of gum ridge + ORCID:0000-0001-5889-4463 + Abnormality of alveolar margin - - orcid.org/0000-0001-5889-4463 - Abnormality of alveolar margin + Abnormality of dentoalveolar ridges + ORCID:0000-0001-5889-4463 @@ -174467,11 +175756,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Abnormality of dentoalveolar ridges + Abnormality of gum ridge + ORCID:0000-0001-5889-4463 + + + ORCID:0000-0001-5889-4463 + Abnormality of alveolar processes of jaw + + + @@ -174510,8 +175806,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Endodontic abnormality + ORCID:0000-0001-5889-4463 Endodontic abnormality - orcid.org/0000-0001-5889-4463 @@ -174523,7 +175819,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of tooth pulp - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -174555,40 +175851,40 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Premature exfoliation of teeth - orcid.org/0000-0001-5889-4463 - Premature teeth loss + Loss of teeth - Loss of teeth + Premature tooth loss - HPO:ibailleulforestier - Premature loss of teeth not related to trauma or neglect. + Early tooth loss - + + - Premature tooth loss + Premature teeth loss - Early tooth loss + HPO:ibailleulforestier + Premature loss of teeth not related to trauma or neglect. - - + @@ -174629,13 +175925,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of baby teeth Abnormality of milk teeth - - orcid.org/0000-0001-5889-4463 - Abnormality of milk teeth - - - - Any abnormality of the primary tooth. HPO:ibailleulforestier @@ -174643,8 +175932,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 + Abnormality of milk teeth + + + + + + ORCID:0000-0001-5889-4463 Abnormality of baby teeth - orcid.org/0000-0001-5889-4463 @@ -174700,75 +175996,75 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Malformed teeth + Abnormality of shape of tooth + ORCID:0000-0001-5889-4463 - - Dental malformations - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of teeth - orcid.org/0000-0001-5889-4463 - Deformity of teeth + Abnormally shaped teeth - An abnormality of the morphology of the tooth. - HPO:ibailleulforestier - - - - - Abnormality of shape of tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Dental malformations + - orcid.org/0000-0001-5889-4463 - Malformation of teeth + Misshapen teeth + - Misshapened teeth + Abnormality of dental shape + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of dental shape + Malformation of teeth + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 Dental deformity + ORCID:0000-0001-5889-4463 - Abnormally shaped teeth + Malformed teeth - Misshapen teeth + Misshapened teeth + + An abnormality of the morphology of the tooth. + HPO:ibailleulforestier + + + @@ -174809,29 +176105,29 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal complement of teeth Abnormal tooth count - - HPO:ibailleulforestier - The presence of an altered number of of teeth. - - - Abnormal tooth count - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Abnormal number of teeth + ORCID:0000-0001-5889-4463 + Abnormal complement of teeth - - Abnormal complement of teeth - orcid.org/0000-0001-5889-4463 + HPO:ibailleulforestier + The presence of an altered number of of teeth. + + + + + Abnormal number of teeth + @@ -174879,8 +176175,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absence of front tooth - Missing front tooth - orcid.org/0000-0001-5889-4463 + Missing incisors @@ -174892,8 +176187,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Absence of front tooth - orcid.org/0000-0001-5889-4463 @@ -174905,16 +176200,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Failure of development of incisor + ORCID:0000-0001-5889-4463 + Missing front tooth - + + - Missing incisors + ORCID:0000-0001-5889-4463 + Failure of development of incisor - - + @@ -174954,18 +176250,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of tooth root - An abnormality of the dental root. - HPO:ibailleulforestier - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of tooth root + + An abnormality of the dental root. + HPO:ibailleulforestier + + + Abnormality of the dental root @@ -175032,18 +176328,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Bowed long bones - - - - A bending or abnormal curvature of a long bone. HPO:probinson + + Bowed long bones + + + + @@ -175060,7 +176356,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - + @@ -175082,6 +176378,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Bending of the arm + + Bowing of the arm + + + + A bending or abnormal curvature affecting a long bone of the arm. HPO:probinson @@ -175090,13 +176392,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bending of the arm - orcid.org/0000-0001-5208-3432 - - - - - - Bowing of the arm + ORCID:0000-0001-5208-3432 @@ -175139,19 +176435,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Abnormality of the wide portion of the femoral bone - - Abnormality of the wide portion of the femoral bone - orcid.org/0000-0001-5208-3432 - - - - An anomaly of the femoral metaphysis. HPO:probinson + + Abnormality of the wide portion of the femoral bone + ORCID:0000-0001-5208-3432 + + + + @@ -175199,8 +176495,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the wide portion of the lower-limb bone + ORCID:0000-0001-5208-3432 Abnormality of the wide portion of the lower-limb bone - orcid.org/0000-0001-5208-3432 @@ -175239,19 +176535,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4025038 human_phenotype peter - Abnormality of the wide portion of shinbone Abnormality of the wide portion of shankbone + Abnormality of the wide portion of shinbone - orcid.org/0000-0001-5208-3432 - Abnormality of the wide portion of shinbone + ORCID:0000-0001-5208-3432 + Abnormality of the wide portion of shankbone - orcid.org/0000-0001-5208-3432 - Abnormality of the wide portion of shankbone + Abnormality of the wide portion of shinbone + ORCID:0000-0001-5208-3432 @@ -175299,24 +176595,24 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small calf bone - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped calf bone + Absence or underdevelopment of the fibula. + HPO:curators - - + + ORCID:0000-0001-5208-3432 Absent/small calf bone - orcid.org/0000-0001-5208-3432 - Absence or underdevelopment of the fibula. - HPO:curators + Absent/underdeveloped calf bone + ORCID:0000-0001-5208-3432 - + + @@ -175363,15 +176659,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Absent/underdeveloped lower limb bones + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent/small lower limb bones + ORCID:0000-0001-5208-3432 @@ -175414,15 +176710,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small foot bones + ORCID:0000-0001-5208-3432 Absent/small foot bones - orcid.org/0000-0001-5208-3432 Absent/underdeveloped foot bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -175478,7 +176774,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small ulna - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -175527,15 +176823,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Absent/small bones of the upper limbs + ORCID:0000-0001-5208-3432 Absent/underdeveloped bones of the upper limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -175591,8 +176887,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small kneecap - orcid.org/0000-0001-5208-3432 Absent/small kneecap + ORCID:0000-0001-5208-3432 @@ -175604,8 +176900,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Absent/underdeveloped kneecap - orcid.org/0000-0001-5208-3432 @@ -175650,18 +176946,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of thighbone end part - An anomaly of a growth plate of a femur. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of thighbone end part + + An anomaly of a growth plate of a femur. + HPO:probinson + + + @@ -175711,8 +177007,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal shape of end part of lower limb end bone + ORCID:0000-0001-5208-3432 Abnormal shape of end part of lower limb end bone - orcid.org/0000-0001-5208-3432 @@ -175757,12 +177053,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small radius Absent/underdeveloped radius - - orcid.org/0000-0001-6908-9849 - Absent/small radius - - - A small/hypoplastic or absent/aplastic radius. HPO:probinson @@ -175770,8 +177060,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Absent/small radius + + + + Absent/underdeveloped radius + ORCID:0000-0001-6908-9849 @@ -175813,26 +177109,26 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped wrist bones Absent/small wrist bones - - Absence or underdevelopment of the carpal bones. - HPO:curators - - - Absent/underdeveloped wrist bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small wrist bones - http://orcid.org/0000-0001-5208-3432 + + Absence or underdevelopment of the carpal bones. + HPO:curators + + + @@ -175872,15 +177168,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small forearm bones - orcid.org/0000-0001-5208-3432 Absent/small forearm bones + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped forearm bones - orcid.org/0000-0001-5208-3432 @@ -175929,19 +177225,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Abnormality of shaft of long bone of the limbs - - A structural abnormality of a diaphysis of the arm or leg. - HPO:probinson - - - Abnormality of shaft of long bone of the limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + A structural abnormality of a diaphysis of the arm or leg. + HPO:probinson + + + @@ -175992,7 +177288,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal shape of end part of limb bones @@ -176037,24 +177333,24 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small long bone in upper arm - Absence (due to failure to form) or underdevelopment of the humerus. - HPO:probinson + Absent/underdeveloped long bone in upper arm + ORCID:0000-0001-5208-3432 - + + + ORCID:0000-0001-5208-3432 Absent/small long bone in upper arm - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped long bone in upper arm - orcid.org/0000-0001-5208-3432 + Absence (due to failure to form) or underdevelopment of the humerus. + HPO:probinson - - + @@ -176093,7 +177389,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of end part of shinbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of end part of shinbone @@ -176114,9 +177410,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Tracheal diverticulum - http://radiopaedia.org/articles/tracheal-diverticulum - http://orcid.org/0000-0001-5208-3432 Tracheal diverticulum + http://radiopaedia.org/articles/tracheal-diverticulum + ORCID:0000-0001-5208-3432 @@ -176273,14 +177569,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough. + Fyler:3002 Pulmonary venoocclusive disease + PMID:27009171 PMID:20456932 Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. HPO:probinson NIHR:ldaugherty - PMID:27009171 @@ -176356,7 +177653,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Repeated pneumothorax - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Repeated pneumothorax @@ -176368,7 +177665,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Tracheobronchial leiomyomatosis - + HP:0006524 UMLS:C3806786 human_phenotype @@ -176402,8 +177699,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Associated clinical manifestations often include fever, cough, and shortness of breath. - HPO:probinson A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma cells. + HPO:probinson @@ -176541,12 +177838,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype pulmonary infections, recurrent - - Recurrent pneumonia - - - - HPO:skoehler pulmonary infections, recurrent @@ -176566,6 +177857,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Recurrent pneumonia + + + + @@ -176647,12 +177944,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Recurrent pulmonary hemorrhage Recurrent bleeding into lungs - - Recurrent pulmonary hemorrhage - orcid.org/0000-0001-6908-9849 - - - A recurrent hemorrhage occurring within the lung. HPO:gcarletti @@ -176661,11 +177952,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Recurrent bleeding into lungs - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Recurrent pulmonary hemorrhage + ORCID:0000-0001-6908-9849 + + + @@ -176708,19 +178005,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Recurrent infections in bronchi and lungs - - orcid.org/0000-0001-5208-3432 - Recurrent infections in bronchi and lungs - - - - An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. HPO:probinson + + Recurrent infections in bronchi and lungs + ORCID:0000-0001-5208-3432 + + + + @@ -176755,7 +178052,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdevelopment of the bronical cartilage - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdevelopment of the bronical cartilage @@ -176831,6 +178128,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Pulmonary av malformation UMLS:C1857690 human_phenotype + Fyler:2210 @@ -176899,18 +178197,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0162557 human_phenotype - - HPO:curators - Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. - - - Acute liver failure + + HPO:curators + Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. + + + @@ -176992,8 +178290,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - + HP:0006559 Liver calcifications The presence of abnormal calcium deposition in the liver. @@ -177292,18 +178590,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Acute fatty liver - An acute form of hepatic steatosis. - HPO:probinson - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Acute fatty liver + + An acute form of hepatic steatosis. + HPO:probinson + + + @@ -177346,8 +178644,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Liver vascular malformations + ORCID:0000-0001-6908-9849 Liver vascular malformations - orcid.org/0000-0001-6908-9849 @@ -177393,19 +178691,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Prolonged yellowing of skin in newborn - - orcid.org/0000-0001-5889-4463 - Prolonged yellowing of skin in newborn - - - - HPO:skoehler Jaundice, neonatal + + Prolonged yellowing of skin in newborn + ORCID:0000-0001-5889-4463 + + + + HPO:probinson Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. @@ -177477,7 +178775,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Depletion of mitochondrial DNA in liver - + An abnormal reduction in the number of mitochondria in hepatocytes. HP:0006581 UMLS:C4025018 @@ -177562,8 +178860,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small abnormally formed shoulder blade + ORCID:0000-0001-5208-3432 Small abnormally formed shoulder blade - orcid.org/0000-0001-5208-3432 @@ -177640,7 +178938,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Straight collarbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -177759,19 +179057,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Fusion of shoulder blade to long bone in upper arm - - Fusion of shoulder blade to long bone in upper arm - http://orcid.org/0000-0001-5208-3432 - - - - Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. HPO:probinson + + Fusion of shoulder blade to long bone in upper arm + ORCID:0000-0001-5208-3432 + + + + @@ -177831,6 +179129,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Paralyzed diaphragm + + ORCID:0000-0001-6908-9849 + Paralyzed diaphragm + + + + HPO:probinson The presence of a paralyzed diaphragm. @@ -177844,13 +179149,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - orcid.org/0000-0001-6908-9849 - Paralyzed diaphragm - - - - @@ -178053,8 +179351,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Underdeveloped middle portion of the collarbone + ORCID:0000-0001-5208-3432 @@ -178106,13 +179404,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Widely spaced nipples + Widely-spaced nipples - Widely-spaced nipples + Widely spaced nipples @@ -178194,8 +179492,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - http://orcid.org/0000-0001-5208-3432 Absent rib calcification in utero + ORCID:0000-0001-5208-3432 @@ -178311,7 +179609,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent bone maturation in sternum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent bone maturation in sternum @@ -178339,14 +179637,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped outermost segments of shoulder blade - orcid.org/0000-0001-5208-3432 Small distal segments of the shoulder blade + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped outermost segments of shoulder blade @@ -178410,18 +179708,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased bone density in ribs - HPO:probinson - Osteosclerosis of ribs (increased density related to increased bone mass). - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in ribs + + HPO:probinson + Osteosclerosis of ribs (increased density related to increased bone mass). + + + @@ -178450,8 +179748,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Missing middle part of collarbone - orcid.org/0000-0001-5208-3432 Missing middle part of collarbone + ORCID:0000-0001-5208-3432 @@ -178704,8 +180002,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Thin collarbone - orcid.org/0000-0001-5208-3432 @@ -178800,8 +180098,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Thickening of the lateral border of the shoulder blade - orcid.org/0000-0001-5208-3432 Thickening of the lateral border of the shoulder blade + ORCID:0000-0001-5208-3432 @@ -178857,15 +180155,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small first rib - orcid.org/0000-0001-5208-3432 Underdeveloped first rib + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Small first rib + ORCID:0000-0001-5208-3432 @@ -178946,18 +180244,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Absence of the clavicles as a developmental defect. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Absent collarbone - orcid.org/0000-0001-5208-3432 + + Absence of the clavicles as a developmental defect. + HPO:probinson + + + @@ -179022,15 +180320,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped twelfth rib - orcid.org/0000-0001-5208-3432 - Small twelfth rib + ORCID:0000-0001-5208-3432 + Underdeveloped twelfth rib - Underdeveloped twelfth rib - orcid.org/0000-0001-5208-3432 + Small twelfth rib + ORCID:0000-0001-5208-3432 @@ -179170,28 +180468,28 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Extra heart beat - HPO:probinson - Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. + Skipped heartbeat - + + - Extra heart beat + Missed heartbeat - + - Skipped heartbeat + Extra heart beat - + - Missed heartbeat + HPO:probinson + Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. - - + @@ -179337,7 +180635,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Infective endocarditis - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Infective endocarditis @@ -179392,6 +180690,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0006690 UMLS:C1096561 human_phenotype + Fyler:1889 Calcified myocardium @@ -179554,6 +180853,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1389016 human_phenotype HP:0005298 + Fyler:0606 + Fyler:606 + Fyler:1100 Atrioventricular septal defect @@ -179685,15 +180987,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small lungs - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped lungs + ORCID:0000-0001-5208-3432 + Absent/small lungs - orcid.org/0000-0001-5208-3432 - Absent/small lungs + ORCID:0000-0001-5208-3432 + Absent/underdeveloped lungs @@ -179733,6 +181035,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0158623 human_phenotype peter + Fyler:3100 Any structural abnormality of the coronary arteries. @@ -179790,7 +181093,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Cystic liver disease - + 2008-03-29T03:37:00Z HP:0006706 MSH:C536330 @@ -179826,8 +181129,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - + 2008-03-29T03:41:00Z An abnormality of the hepatic vasculature. HP:0006707 @@ -179838,18 +181141,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of liver blood vessels - An abnormality of the hepatic vasculature. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Abnormality of liver blood vessels - orcid.org/0000-0001-5208-3432 + + An abnormality of the hepatic vasculature. + HPO:probinson + + + @@ -179891,15 +181194,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped nipples + ORCID:0000-0001-5208-3432 Absent/small nipples - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 Absent/underdeveloped nipples + ORCID:0000-0001-5208-3432 @@ -179943,25 +181246,25 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small collarbone - Absence or underdevelopment of the clavicles (collar bones). - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Absent/underdeveloped collarbone + ORCID:0000-0001-5208-3432 Absent/small collarbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absence or underdevelopment of the clavicles (collar bones). + HPO:curators + + + @@ -180000,15 +181303,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small outermost thorax bone - Absent/underdeveloped thorax bone - orcid.org/0000-0001-5208-3432 + Absent/small outermost thorax bone + ORCID:0000-0001-5208-3432 - Absent/small outermost thorax bone - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped thorax bone + ORCID:0000-0001-5208-3432 @@ -180054,14 +181357,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small ribs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent/underdeveloped ribs + ORCID:0000-0001-5208-3432 @@ -180104,15 +181407,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped shoulder blade - Absent/small shoulder blade - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped shoulder blade + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped shoulder blade + ORCID:0000-0001-5208-3432 + Absent/small shoulder blade @@ -180155,15 +181458,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small sternum - Absent/small sternum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped sternum - Absent/underdeveloped sternum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small sternum @@ -180224,7 +181527,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Non-cancerous GI tumors - orcid.org/0000-0001-9114-8737 + ORCID:0000-0001-9114-8737 Non-cancerous GI tumors @@ -180349,8 +181652,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. - Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. NCIT:C3183 + Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. @@ -180491,7 +181794,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w AMegL - + @@ -180534,8 +181837,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Kidney cortical adenoma - orcid.org/0000-0001-5208-3432 Kidney cortical adenoma + ORCID:0000-0001-5208-3432 @@ -180853,7 +182156,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Malignant gi tract tumors - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -180920,7 +182223,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Stomach tumor - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Stomach tumor @@ -181340,13 +182643,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Duodenal cancer - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - HPO:probinson A malignant epithelial tumor with a glandular organization that originates in the duodenum. + HPO:probinson @@ -181399,8 +182702,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Kidney angiomyolipoma - http://orcid.org/0000-0001-6908-9849 Kidney angiomyolipoma + ORCID:0000-0001-6908-9849 @@ -181514,18 +182817,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Kahler's disease - - Kahler's disease - http://orcid.org/0000-0001-6908-9849 - - - A malignant plasma cell tumor growing within soft tissue or within the skeleton. HPO:sdoelken + + ORCID:0000-0001-6908-9849 + Kahler's disease + + + @@ -181738,28 +183041,22 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Decreased pneumatization of paranasal sinus - orcid.org/0000-0001-5889-4463 - Small paranasal sinus - - - - - orcid.org/0000-0001-5889-4463 - Decreased pneumatization of paranasal sinus + ORCID:0000-0001-5889-4463 + Decreased volume of paranasal sinus - + - orcid.org/0000-0001-5889-4463 - Atelectasis of paranasal sinus + Hypotrophic paranasal sinus + ORCID:0000-0001-5889-4463 - Decreased growth of paranasal sinus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of paranasal sinus - + HPO:probinson @@ -181768,28 +183065,34 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Hypotrophic paranasal sinus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased pneumatization of paranasal sinus - + - Decreased volume of paranasal sinus - orcid.org/0000-0001-5889-4463 + Decreased growth of paranasal sinus + ORCID:0000-0001-5889-4463 - + Decreased size of paranasal sinus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Underdevelopment of paranasal sinus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Atelectasis of paranasal sinus - + + + + Small paranasal sinus + ORCID:0000-0001-5889-4463 + + @@ -182122,18 +183425,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C3280770 human_phenotype - - Cerebellar vermis aplasia or hypoplasia - HPO:skoehler - - - Absence or underdevelopment of the vermis of cerebellum. HPO:curators + + Cerebellar vermis aplasia or hypoplasia + HPO:skoehler + + + @@ -182153,16 +183456,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Type 1 lissencephaly - A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. - HPO:probinson + ORCID:0000-0001-6908-9849 + Classic lissencephaly - + - http://orcid.org/0000-0001-6908-9849 - Classic lissencephaly + A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. + HPO:probinson - + @@ -182242,7 +183545,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Degeneration of the spinal cord - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Degeneration of the spinal cord @@ -182312,13 +183615,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Congenital hypotonia - orcid.org/0000-0001-6908-9849 Congenital hypotonia + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Severe floppy baby syndrome in males @@ -182380,7 +183683,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent knee jerk reflex - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -182451,16 +183754,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped ventral pons - HPO:probinson - Underdevelopment of the ventral portion of the pons. + ORCID:0000-0001-6908-9849 + Underdeveloped ventral pons - + - Underdeveloped ventral pons - orcid.org/0000-0001-6908-9849 + HPO:probinson + Underdevelopment of the ventral portion of the pons. - + @@ -182700,21 +184003,21 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped cerebrum Small cerebrum - - HPO:probinson - Underdevelopment of the cerebrum. - - - Small cerebrum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + HPO:probinson + Underdevelopment of the cerebrum. + + + + + ORCID:0000-0001-5208-3432 Underdeveloped cerebrum @@ -182919,6 +184222,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Mental retardation, progressive + + + + Intellectual disability, progressive @@ -182931,12 +184240,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Mental retardation, progressive - - - - @@ -182992,13 +184295,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification. - Mental retardation, borderline + Intellectual disability, borderline - Intellectual disability, borderline + Mental retardation, borderline @@ -183298,7 +184601,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Frontal cortex degeneration - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -183652,18 +184955,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1854372 human_phenotype - - Decreased vibration sense in feet - - - - A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. HPO:probinson + + Decreased vibration sense in feet + + + + Impaired vibration sensation at ankles @@ -183983,8 +185286,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Unstable walking, worse in the dark + ORCID:0000-0001-5208-3432 Unstable walking, worse in the dark - orcid.org/0000-0001-5208-3432 @@ -184198,7 +185501,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Uncontrollable movement in upper arms - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -184683,40 +185986,40 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - Attention deficits + Attention deficit disorder - Childhood attention deficit/hyperactivity disorder + Attention deficit - Attention deficit disorder + Attention deficits - Attention deficit-hyperactivity disorder + Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. + HPO:curators - - + - Attention deficit + Attention deficit-hyperactivity disorder - Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. - HPO:curators + Childhood attention deficit/hyperactivity disorder - + + @@ -184976,7 +186279,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped olfactory tract - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -185070,8 +186373,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Partial or complete wasting (loss) of dentate nucleus. - Partial or complete wasting (loss) of dentate nucleus. HPO:probinson + Partial or complete wasting (loss) of dentate nucleus. @@ -185165,18 +186468,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Generalized cerebral degeneration/underdevelopment - Generalized atrophy or hypoplasia of the cerebrum. - HPO:sdoelken - - - - - orcid.org/0000-0001-5208-3432 Generalized cerebral degeneration/underdevelopment + ORCID:0000-0001-5208-3432 + + Generalized atrophy or hypoplasia of the cerebrum. + HPO:sdoelken + + + @@ -185191,8 +186494,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent inferior half of the cerebellar vermis + ORCID:0000-0001-5208-3432 Absent inferior half of the cerebellar vermis - orcid.org/0000-0001-5208-3432 @@ -185449,17 +186752,17 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Overactive knee reflex - Brisk knee jerk + ORCID:0000-0001-6908-9849 + Overactive knee reflex - + - Overactive knee reflex - orcid.org/0000-0001-6908-9849 + Brisk knee jerk - + @@ -185481,7 +186784,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Involuntary jerking movements HP:0007087 - human_phenotype true HP:0001336 @@ -185559,7 +186861,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped optic tract - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -186438,13 +187740,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Passing out - Passing out + Loss of consciousness - Loss of consciousness + Passing out @@ -186485,8 +187787,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Congenital bilateral facial palsy - Congenital bilateral facial weakness - orcid.org/0000-0001-5889-4463 + Congenital bilateral facial palsy + ORCID:0000-0001-5889-4463 @@ -186497,8 +187799,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Congenital bilateral facial palsy + ORCID:0000-0001-5889-4463 + Congenital bilateral facial weakness @@ -186641,19 +187943,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Plaque build-up in cerebral artery - - orcid.org/0000-0001-5208-3432 - Plaque build-up in cerebral artery - - - - Atherosclerosis (HP:0002621) of a cerebral artery. HPO:probinson + + Plaque build-up in cerebral artery + ORCID:0000-0001-5208-3432 + + + + @@ -186775,8 +188077,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5889-4463 Facial paresis - orcid.org/0000-0001-5889-4463 @@ -186971,8 +188273,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. - HPO:jbaets Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. + HPO:jbaets @@ -187376,8 +188678,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Spinal muscle degeneration - Spinal muscle wasting - orcid.org/0000-0001-5208-3432 + Spinal muscle degeneration + ORCID:0000-0001-5208-3432 @@ -187389,8 +188691,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Spinal muscle degeneration - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Spinal muscle wasting @@ -187437,7 +188739,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Atypical petit mal seizures @@ -187551,19 +188853,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Facial palsy caused by excessive growth of facial bones - Facial palsy caused by enlargement of cranial bones - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 - Facial palsy caused by overgrowth of cranial bones + Facial palsy secondary to hypertrophy of cranial bones + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Facial palsy caused by excessive growth of facial bones @@ -187575,8 +188871,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Facial palsy secondary to hypertrophy of cranial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Facial palsy caused by enlargement of cranial bones + + + + + ORCID:0000-0001-5889-4463 + Facial palsy caused by overgrowth of cranial bones @@ -187867,7 +189169,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Short stepped shuffling walk - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short stepped shuffling walk @@ -187909,7 +189211,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Involuntary writhing movements HP:0007316 - human_phenotype true HP:0002305 @@ -188002,18 +189303,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Impaired pain sensation - - - - HPO:probinson Reduced ability to perceive painful stimuli. + + Impaired pain sensation + + + + @@ -188121,8 +189422,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Underdeveloped frontal lobe - orcid.org/0000-0001-5208-3432 @@ -188259,29 +189560,29 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - Muscle weakness in lower limbs + HPO:skoehler + Leg weakness - + - Lower limb muscle weakness + Lower limb weakness - Lower limb weakness + HPO:curators + Weakness of the muscles of the legs. - - + - HPO:skoehler - Leg weakness + Muscle weakness in lower limbs - + Lower extremity weakness @@ -188290,10 +189591,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:curators - Weakness of the muscles of the legs. + Lower limb muscle weakness - + + @@ -188543,7 +189844,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Lou gehrig's disease - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Lou gehrig's disease @@ -188638,15 +189939,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small cerebellum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped cerebellum + ORCID:0000-0001-5208-3432 Absent/small cerebellum - orcid.org/0000-0001-5208-3432 @@ -188732,15 +190033,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small brainstem + ORCID:0000-0001-5208-3432 Absent/small brainstem - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent/underdeveloped brainstem + ORCID:0000-0001-5208-3432 @@ -188818,15 +190119,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small cerebrum - Absent/underdeveloped cerebrum - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Absent/small cerebrum - Absent/small cerebrum - orcid.org/0000-0001-6908-9849 + Absent/underdeveloped cerebrum + ORCID:0000-0001-6908-9849 @@ -189130,8 +190431,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wasting involving the motor neuron. - orcid.org/0000-0001-5208-3432 Motor neuron degeneration + ORCID:0000-0001-5208-3432 @@ -189334,19 +190635,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter GI tract tumor - - orcid.org/0000-0001-5208-3432 - GI tract tumor - - - - A tumor (abnormal growth of tissue) of the gastrointestinal tract. HPO:probinson + + GI tract tumor + ORCID:0000-0001-5208-3432 + + + + Gastrointestinal tract tumor @@ -189404,18 +190705,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype peter - - A tumor (abnormal growth of tissue) of the genitourinary system. - HPO:probinson - - - Genitourinary tract tumors + + A tumor (abnormal growth of tissue) of the genitourinary system. + HPO:probinson + + + @@ -189522,23 +190823,23 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Solitary scalp defect - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - A developmental defect resulting in the congenital absence of skin on the scalp. - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 Focal absence of scalp tissue + ORCID:0000-0001-5889-4463 + + A developmental defect resulting in the congenital absence of skin on the scalp. + HPO:probinson + + + @@ -189581,7 +190882,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped sweat glands - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -189654,13 +190955,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - Prominent superficial vasculature + Prominent superficial blood vessels - Prominent superficial blood vessels + Prominent superficial vasculature @@ -189707,7 +191008,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Sun sensitivity occuring early in life - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -189822,8 +191123,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. + ORCID:0000-0003-0986-4123 Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. - UManchester:psergouniotis @@ -189873,7 +191174,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Thick skin of soles - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Thick skin of soles @@ -189943,14 +191244,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Pigmentation of eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Dark eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Brown eyelids @@ -189958,7 +191259,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Pigmentation of eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -189977,8 +191278,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Excessive skin wrinkling on back of hands and fingers + ORCID:0000-0001-5208-3432 Excessive skin wrinkling on back of hands and fingers - orcid.org/0000-0001-5208-3432 @@ -190032,19 +191333,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Excessive sweating of palms and soles - - http://orcid.org/0000-0001-5208-3432 - Excessive sweating of palms and soles - - - - An abnormally increased perspiration on palms and soles. HPO:probinson + + ORCID:0000-0001-5208-3432 + Excessive sweating of palms and soles + + + + @@ -190104,7 +191405,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Port-wine stain on forehead - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Port-wine stain on forehead @@ -190130,7 +191431,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wrinkled skin of hands and feet in newborn - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wrinkled skin of hands and feet in newborn @@ -190239,18 +191540,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C3554587 human_phenotype - - HPO:curators - Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. - - - HPO:skoehler Telangiectasia on the cheeks + + HPO:curators + Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. + + + @@ -190266,15 +191567,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hyperelastic face skin - orcid.org/0000-0001-5208-3432 - Hyperelastic face skin + Stretchable face skin + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Stretchable face skin + Hyperelastic face skin + ORCID:0000-0001-5208-3432 @@ -190324,35 +191625,35 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Spider veins of the oral mucosa - Angioectasia of the oral mucosa - orcid.org/0000-0001-5889-4463 + Spider veins of the oral mucosa + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Spider veins of the oral mucosa + ORCID:0000-0001-5889-4463 + Angioectasia of the oral mucosa - - HPO:probinson - Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. + Angioectasia of the oral mucous membrane + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Telangiectasia of the oral mucous membrane - orcid.org/0000-0001-5889-4463 - Angioectasia of the oral mucous membrane + HPO:probinson + Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. - + @@ -190662,7 +191963,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial absent skin pigmentation @@ -190905,8 +192206,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Generalized inability to sweat + ORCID:0000-0001-5208-3432 Generalized inability to sweat - orcid.org/0000-0001-5208-3432 @@ -190994,18 +192295,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C2017869 human_phenotype - - HPO:probinson - Reduced number or density of facial hair. - - - Sparse facial hair + + HPO:probinson + Reduced number or density of facial hair. + + + @@ -191173,8 +192474,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Abnormal fingerprints - orcid.org/0000-0001-5208-3432 @@ -191297,19 +192598,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Absent fat below the skin - - Absent fat below the skin - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Lack of subcutaneous adipose tissue. + + Absent fat below the skin + ORCID:0000-0001-5208-3432 + + + + @@ -191499,8 +192800,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-7941-2961 Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. - orcid.org/0000-0001-7941-2961 @@ -191541,12 +192842,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4021574 human_phenotype - - Decreased sweat pores - - - - HPO:probinson The presence of fewer than normal sweat glands. @@ -191559,6 +192854,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + Decreased sweat pores + + + + @@ -191647,7 +192948,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Missing skin on limbs since birth - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -191843,18 +193144,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Extra skin on fingers - HPO:probinson - Loose and sagging skin of the fingers. - - - - + ORCID:0000-0001-5208-3432 Extra skin on fingers - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Loose and sagging skin of the fingers. + + + @@ -191901,19 +193202,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype - Increased wrinkles of palms and soles + HPO:probinson + Loose, wrinkled skin of hands and feet. - - + - Wrinkled skin of hands and feet + Increased wrinkles of palms and soles - Excessive wrinkled skin of palms and soles + Wrinkled skin of hands and feet @@ -191925,10 +193226,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:probinson - Loose, wrinkled skin of hands and feet. + Excessive wrinkled skin of palms and soles - + + @@ -191974,8 +193275,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Lack of fatty tissue below the skin - http://orcid.org/0000-0001-5208-3432 Lack of fatty tissue below the skin + ORCID:0000-0001-5208-3432 @@ -192183,8 +193484,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Severe sun sensitivity + ORCID:0000-0001-5208-3432 Severe sun sensitivity - orcid.org/0000-0001-5208-3432 @@ -192288,12 +193589,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4024848 human_phenotype - - HPO:probinson - Lack of skin pigmentation (coloring) of the anterior chest. - - - HPO:skoehler @@ -192329,6 +193624,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + HPO:probinson + Lack of skin pigmentation (coloring) of the anterior chest. + + + @@ -192363,8 +193664,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased thickness of skin epidermis - orcid.org/0000-0001-5208-3432 Increased thickness of skin epidermis + ORCID:0000-0001-5208-3432 @@ -192467,7 +193768,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Lack of sweating or excessive sweating - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -192486,8 +193787,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal fat tissue distribution below the skin - orcid.org/0000-0001-5208-3432 Abnormal fat tissue distribution below the skin + ORCID:0000-0001-5208-3432 @@ -192631,8 +193932,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Seborrheic dermatitis that is not localized to any one particular region. + ORCID:0000-0001-5208-3432 Generalized seborrheic eczema - orcid.org/0000-0001-5208-3432 @@ -192683,10 +193984,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4280439 human_phenotype Late onset baby eczema + A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. + + PMID:23984225 + PMID:27904186 + A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. + + + Late onset baby eczema - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -192706,7 +194015,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Bronze skin - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bronze skin @@ -192921,8 +194230,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Excess skin in infancy - orcid.org/0000-0001-5208-3432 Excess skin in infancy + ORCID:0000-0001-5208-3432 @@ -192939,7 +194248,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w The presence of multiple subcutaneous lipoma that cause pain. UMLS:C4024838 human_phenotype + Painful noncancerous fat tissue tumor under the skin + + ORCID:0000-0002-6548-5200 + Painful noncancerous fat tissue tumor under the skin + + + + HPO:probinson The presence of multiple subcutaneous lipoma that cause pain. @@ -193196,38 +194513,38 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area. - orcid.org/0000-0001-6908-9849 - Angel's kiss + HPO:sdoelken + Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. - - + - orcid.org/0000-0001-5208-3432 - Port-wine stain on neck + Stork bite + ORCID:0000-0001-6908-9849 - HPO:sdoelken - Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. + ORCID:0000-0001-6908-9849 + Angel's kiss - + + - orcid.org/0000-0001-6908-9849 - Stork bite + ORCID:0000-0001-6908-9849 + Salmon patch - + - Salmon patch - orcid.org/0000-0001-6908-9849 + Port-wine stain on neck + ORCID:0000-0001-5208-3432 - + @@ -193278,18 +194595,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). - - Skin calcification - - - - Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). HPO:probinson + + Skin calcification + + + + @@ -193370,7 +194687,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormal pigmentation in sun-exposed skin - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal pigmentation in sun-exposed skin @@ -193475,76 +194792,76 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdevelopment of condylar head of mandible + ORCID:0000-0001-5889-4463 Absence of the condylar process of mandible - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of the condylar neck of mandible + Failure of development of the condylar process of mandible + ORCID:0000-0001-5889-4463 - Agenesis of condylar process of mandible - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Agenesis of condylar head of mandible - orcid.org/0000-0001-5889-4463 - Underdevelopment of condylar head of mandible + ORCID:0000-0001-5889-4463 + Absence of the condylar neck of mandible - Underdevelopment of condylar neck of mandible - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Agenesis of condylar process of mandible - + - Failure of development of condylar head of mandible - orcid.org/0000-0001-5889-4463 + Agenesis of condylar neck of mandible + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Agenesis of condylar head of mandible + Underdevelopment of condylar neck of mandible + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Failure of development of condylar neck of mandible + ORCID:0000-0001-5889-4463 + Failure of development of condylar head of mandible - orcid.org/0000-0001-5889-4463 Underdevelopment of condylar process of mandible + ORCID:0000-0001-5889-4463 Absence of the condylar head of mandible - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of the condylar process of mandible + Underdevelopment of condylar head of mandible + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Agenesis of condylar neck of mandible + Failure of development of condylar neck of mandible + ORCID:0000-0001-5889-4463 - + @@ -193598,77 +194915,77 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hypotrophic mandibular condyle - orcid.org/0000-0001-5889-4463 - Small condylar head of mandible + Hypoplasia of condylar process of mandible + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Decreased size of condylar process of mandible + Small mandibular condyle + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hypoplasia of condylar process of mandible + ORCID:0000-0001-5889-4463 + Decreased size of mandibular condyle - orcid.org/0000-0001-5889-4463 Hypoplasia of condylar neck of mandible + ORCID:0000-0001-5889-4463 - Small condylar neck of mandible - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypoplasia of subcondylar region of mandible - orcid.org/0000-0001-5889-4463 - Decreased size of mandibular condyle + Decreased size of condylar process of mandible + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Small mandibular condyle + ORCID:0000-0001-5889-4463 + Hypotrophic mandibular condyle - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypoplasia of mandibular condyle - Hypoplasia of condylar head of mandible - orcid.org/0000-0001-5889-4463 + Small condylar neck of mandible + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Hypotrophic mandibular condyle + Hypoplasia of condylar head of mandible + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 Hypotrophic condylar process of mandible - orcid.org/0000-0001-5889-4463 + + Small condylar head of mandible + ORCID:0000-0001-5889-4463 + + + @@ -193716,30 +195033,24 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormally small eyeball on both sides - orcid.org/0000-0001-5889-4463 - Decreased size of globes of eyes - - - - - orcid.org/0000-0001-5889-4463 - Abnormally small eyeball on both sides + Bilateral nanophthalmos + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 Decreased size of eyeballs + ORCID:0000-0001-5889-4463 - Bilateral nanophthalmos - orcid.org/0000-0001-5889-4463 + Abnormally small eyeball on both sides + ORCID:0000-0001-5889-4463 - + + A developmental anomaly characterized by abnormal smallness of both eyes. @@ -193747,6 +195058,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + ORCID:0000-0001-5889-4463 + Decreased size of globes of eyes + + + @@ -193782,20 +195099,20 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Color blindness - - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - Color blindness - - - - A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. DDD:ncarter + + ORCID:0000-0001-5889-4463 + Color blindness + ORCID:0000-0001-5208-3432 + + + + @@ -193829,27 +195146,27 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Night blindness since birth - Night blindness since birth - orcid.org/0000-0001-5208-3432 + HPO:skoehler + Night blindness, congenital stationary - - + - A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. - HPO:probinson + ORCID:0000-0001-5208-3432 + Night blindness since birth - + + HPO:skoehler - Night blindness, congenital stationary, complete + Night blindness, stationary HPO:skoehler - Night blindness, congenital stationary + Night blindness, congenital stationary, complete @@ -193860,10 +195177,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - HPO:skoehler - Night blindness, stationary + A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. + HPO:probinson - + @@ -193925,29 +195242,29 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Absent lower eyelashes + ORCID:0000-0001-5889-4463 + Agenesis of lower eyelashes - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Aplasia of lower eyelashes - orcid.org/0000-0001-5889-4463 Failure of development of lower eyelashes + ORCID:0000-0001-5889-4463 - Agenesis of lower eyelashes - orcid.org/0000-0001-5889-4463 + Absent lower eyelashes - + + @@ -194061,7 +195378,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Lower eyelid folded out - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Lower eyelid folded out @@ -194069,7 +195386,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Lower eyelid turned out - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -194137,7 +195454,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent tear gland @@ -194183,6 +195500,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Decreased retinal pigmentation with dispersion HP:0007659 true + HP:0007703 @@ -194312,8 +195630,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. - UManchester:psergouniotis Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. + ORCID:0000-0003-0986-4123 @@ -194430,19 +195748,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped iris - - orcid.org/0000-0001-5208-3432 - Underdeveloped iris - - - - Congenital underdevelopment of the iris. HPO:probinson + + Underdeveloped iris + ORCID:0000-0001-5208-3432 + + + + @@ -194507,7 +195825,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Narrowing of the tear duct - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Narrowing of the tear duct @@ -194664,19 +195982,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Dropping of one upper eyelid - - orcid.org/0000-0001-5208-3432 - Dropping of one upper eyelid - - - - A unilateral form of ptosis. HPO:probinson + + Dropping of one upper eyelid + ORCID:0000-0001-5208-3432 + + + + @@ -194794,11 +196112,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdevelopment of lower eyelid + ORCID:0000-0001-5889-4463 Hypotrophic lower eyelid - orcid.org/0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + Short lower eyelid + + + + HPO:probinson Underdevelopment of the lower eyelid. @@ -194806,33 +196131,26 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 - Decreased size of lower eyelid + ORCID:0000-0001-5889-4463 + Underdevelopment of lower eyelid - Short lower eyelid - orcid.org/0000-0001-5889-4463 + Decreased size of lower eyelid + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 Small lower eyelid + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Underdevelopment of lower eyelid - - - - @@ -195083,6 +196401,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Choroidal dystrophy HP:0007712 true + HP:0001135 @@ -195307,8 +196626,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0008017 - Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. HPO:probinson + Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. @@ -195480,18 +196799,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped tear gland - HPO:probinson - Underdevelopment of the lacrimal gland. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped tear gland + + HPO:probinson + Underdevelopment of the lacrimal gland. + + + @@ -195539,18 +196858,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Enlarged tear gland - Abnormally big lacrimal glands. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Enlarged tear gland - orcid.org/0000-0001-5208-3432 + + Abnormally big lacrimal glands. + HPO:probinson + + + @@ -195582,18 +196901,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Retinal pigmented bone spicules - - HPO:probinson - Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). - - - HPO:skoehler Retinal 'bone corpuscle' pigmentation + + HPO:probinson + Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). + + + @@ -195614,7 +196933,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Mildly reduced visual acuity HP:0007739 - human_phenotype true @@ -195810,7 +197128,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Visual impairment since birth - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -195858,18 +197176,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1856661 human_phenotype - - Cloudy corneas - HPO:skoehler - - - DDD:gblack Reduced transparency of the stroma of cornea. + + Cloudy corneas + HPO:skoehler + + + @@ -196092,8 +197410,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped retina - orcid.org/0000-0001-5208-3432 Underdeveloped retina + ORCID:0000-0001-5208-3432 @@ -196138,16 +197456,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 Impairment of visual pursuit - - - - - Abnormality of visual tracking - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 @@ -196157,6 +197468,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Abnormality of visual tracking + + + @@ -196249,12 +197567,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Hypotrichosis of lower eyelashes Scanty lower eyelashes - - orcid.org/0000-0001-5889-4463 - Hypotrichosis of lower eyelashes - - - Sparse lower eyelashes @@ -196268,12 +197580,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5889-4463 Thin lower eyelashes + ORCID:0000-0001-5889-4463 + + Hypotrichosis of lower eyelashes + ORCID:0000-0001-5889-4463 + + + @@ -196392,7 +197710,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Lacunar retinal depigmentation HP:0007786 - human_phenotype true @@ -196433,18 +197750,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C0858617 human_phenotype - - HPO:skoehler - Posterior subcapsular cataracts - - - A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. HPO:probinson + + HPO:skoehler + Posterior subcapsular cataracts + + + @@ -196569,7 +197886,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased front to back length of eyeball - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased front to back length of eyeball @@ -196799,6 +198116,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Focal hypopigmentation of the retinal pigment epithelium Retinal pigment epithelium irregularity + + RPE mottling + + + + HPO:probinson Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. @@ -196811,12 +198134,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - RPE mottling - - - - @@ -196927,18 +198244,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Atretic lacrimal punctum - - Atretic lacrimal puncta - - - - Congenital absence or closure of the opening of the lacrimal punctum. HPO:probinson + + Atretic lacrimal puncta + + + + @@ -196969,8 +198286,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Complete ophthalmoplegia - Paralysis of both the extrinsic and intrinsic ocular muscles. HPO:probinson + Paralysis of both the extrinsic and intrinsic ocular muscles. @@ -197003,11 +198320,10 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Diffuse retinal cone degeneration - + obsolete Diffuse retinal cone degeneration HP:0007829 - UMLS:C4024791 - human_phenotype + true + HP:0000546 @@ -197023,18 +198339,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4024790 human_phenotype - - HPO:probinson - Inability to see well at night or in poor light with onset in adulthood. - - - Adult-onset night blindness + + HPO:probinson + Inability to see well at night or in poor light with onset in adulthood. + + + @@ -197099,8 +198415,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Pigmentation of the outer white part of the eyeball - orcid.org/0000-0001-5208-3432 Pigmentation of the outer white part of the eyeball + ORCID:0000-0001-5208-3432 @@ -197193,14 +198509,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w S-shaped opening between the eyelids + ORCID:0000-0001-5889-4463 S-shaped eyes - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 S-shaped opening between the eyelids @@ -197232,19 +198548,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Progressive drooping of upper eyelid - - Progressive drooping of upper eyelid - orcid.org/0000-0001-5208-3432 - - - - A progressive form of ptosis. HPO:probinson + + Progressive drooping of upper eyelid + ORCID:0000-0001-5208-3432 + + + + @@ -197282,12 +198598,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Ciliary trichomegaly of upper eyelashes Increased length of upper eyelashes - - Long upper eyelashes - - - - HPO:probinson Increased length of the upper eyelashes. @@ -197296,7 +198606,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Increased length of upper eyelashes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + + + + + Long upper eyelashes @@ -197600,7 +198916,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Peripheral retinopathy HP:0007869 - human_phenotype true @@ -197687,8 +199002,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Almond shaped eyes - orcid.org/0000-0001-5889-4463 + Almond-shaped opening between the eyelids + ORCID:0000-0001-5889-4463 @@ -197700,8 +199015,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Almond-shaped opening between the eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Almond shaped eyes @@ -197730,8 +199045,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Blindness present at birth - orcid.org/0000-0001-5208-3432 @@ -197857,8 +199172,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 Missing eye muscles + ORCID:0000-0001-6908-9849 @@ -197917,25 +199232,25 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4021564 Underdevelopment of the lacrimal puncta. human_phenotype - Hypoplasia of the lacrimal puncta + Hypoplasia of the lacrimal puncta - - HPO:probinson - Underdevelopment of the lacrimal puncta. - - - Hypoplastic lacrimal puncta + + HPO:probinson + Underdevelopment of the lacrimal puncta. + + + Hypoplasia of the lacrimal puncta - + @@ -197996,7 +199311,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0001487 - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). @@ -198073,7 +199388,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped tear duct - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -198138,6 +199453,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others. + + Vitreous haemorrhage + + + + Bleeding within the vitreous compartment of the eye. DDD:akelly @@ -198145,12 +199466,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Vitreous haemorrhage - - - - @@ -198206,8 +199521,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of iris blood vessels + ORCID:0000-0001-5208-3432 Abnormality of iris blood vessels - orcid.org/0000-0001-5208-3432 @@ -198225,14 +199540,38 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w SNOMEDCT_US:112222000 UMLS:C0234708 human_phenotype + Elevated intraocular pressure + Raised intraocular pressure + Raised IOP + Elevated IOP + An increase in the intraocular pressure which is determined by the balance of aqueous humour inflow and outflow, and that is 2 standard deviations above the population mean. + Increased IOP High eye pressure + + Raised IOP + + + + High eye pressure + + Elevated IOP + + + + + + Increased IOP + + + + @@ -198262,7 +199601,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Congenital drooping of both upper eyelids - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Congenital drooping of both upper eyelids @@ -198343,6 +199682,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Congenital chorioretinal dystrophy HP:0007920 true + HP:0001135 @@ -198423,8 +199763,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - http://orcid.org/0000-0001-5208-3432 Slow decrease in sharpness of vision + ORCID:0000-0001-5208-3432 @@ -198470,7 +199810,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent tear duct @@ -198553,16 +199893,16 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Wide lateral eyebrow - HPO:probinson - Regional increase in the width (height) of the lateral eyebrow. + ORCID:0000-0001-5889-4463 + Wide lateral eyebrow - + - Wide lateral eyebrow - orcid.org/0000-0001-5889-4463 + HPO:probinson + Regional increase in the width (height) of the lateral eyebrow. - + @@ -198618,9 +199958,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. - HPO:fprobst - A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. PMID:28114409 + A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. + HPO:fprobst @@ -198743,6 +200083,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Choroidal degeneration HP:0007945 true + HP:0200065 @@ -198768,7 +200109,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Unequal size of opening between the eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -198788,9 +200129,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. - A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. - UManchester:psergouniotis PMID:28981474 + A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. + ORCID:0000-0003-0986-4123 @@ -198851,6 +200192,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Bilateral choroid coloboma HP:0007956 true + HP:0000567 @@ -198933,8 +200275,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). + ORCID:0000-0003-0986-4123 A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). - UManchester:psergouniotis @@ -199011,8 +200353,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-6908-9849 Persistent fetal vasculature + ORCID:0000-0001-6908-9849 @@ -199039,7 +200381,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Congenital drooping upper eyelid - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -199226,6 +200568,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Concentric narrowing of visual field HP:0007981 true + HP:0001133 @@ -199284,8 +200627,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Blocked retinal artery + ORCID:0000-0001-5889-4463 Blocked retinal artery - orcid.org/0000-0001-5889-4463 @@ -199426,18 +200769,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Underdeveloped iris stroma - - Underdeveloped iris stroma - orcid.org/0000-0001-6908-9849 - - - HPO:probinson Underdevelopment of the stroma of iris. + + Underdeveloped iris stroma + ORCID:0000-0001-6908-9849 + + + @@ -199486,7 +200829,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Malformed tear ducts - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -199510,15 +200853,21 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Kalnienk vision - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 Kalnienk vision - http://orcid.org/0000-0001-5208-3432 + HPO:probinson + Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. + + + + Loss of peripheral vision + ORCID:0000-0001-5208-3432 @@ -199529,12 +200878,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - HPO:probinson - Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. - - - @@ -199753,14 +201096,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Triple row of eyelashes - Three rows of eyelashes + ORCID:0000-0001-5889-4463 + Triple row of eyelashes - orcid.org/0000-0001-5889-4463 - Triple row of eyelashes + Three rows of eyelashes @@ -199801,8 +201144,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Nearsightedness since birth + ORCID:0000-0001-5208-3432 Nearsightedness since birth - orcid.org/0000-0001-5208-3432 @@ -199857,6 +201200,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Superior subluxated lens + + Superior subluxated lens + ORCID:0000-0001-6908-9849 + + + HPO:probinson Partial dislocation of the lens in a superior direction. @@ -199864,12 +201213,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - orcid.org/0000-0001-6908-9849 - Superior subluxated lens - - - @@ -199958,8 +201301,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Retinal vaculitis - orcid.org/0000-0001-5889-4463 Retinal vaculitis + ORCID:0000-0001-5889-4463 @@ -200063,9 +201406,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype + PMID:9734800 Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). - pmid:9734800 - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -200130,8 +201473,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped lacrimal glands + ORCID:0000-0001-5208-3432 Absent/underdeveloped tear glands - orcid.org/0000-0001-5208-3432 @@ -200143,8 +201486,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Absent/underdeveloped lacrimal glands + ORCID:0000-0001-5208-3432 @@ -200277,19 +201620,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter Abnormality of retina blood vessels - - Abnormality of retina blood vessels - orcid.org/0000-0001-5208-3432 - - - - An arterial or venous retinal vascular anomaly. HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormality of retina blood vessels + + + + @@ -200327,7 +201670,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of eye blood vessels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of eye blood vessels @@ -200457,37 +201800,37 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w An anomaly of the space between the medial and lateral canthi of the two open eyelids. Malformation of the palpebral fissures - - An anomaly of the space between the medial and lateral canthi of the two open eyelids. - HPO:probinson - - - - - Abnormality of the palpebral fissures - - - - Deformity of the palpebral fissures - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Malformation of the palpebral fissures - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + Abnormality of the palpebral fissures + + + + + + ORCID:0000-0001-5889-4463 Abnormality of the opening between the eyelids + + An anomaly of the space between the medial and lateral canthi of the two open eyelids. + HPO:probinson + + + @@ -200495,9 +201838,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w obsolete Abnormality of the retinal pigment epithelium - 2008-04-02T01:32:00Z HP:0008051 - peter true HP:0007703 @@ -200518,18 +201859,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Retinal folds A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. - - HPO:probinson - A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. - - - HPO:skoehler Retinal folds + + HPO:probinson + A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. + + + @@ -200569,6 +201910,13 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small iris Absent/underdeveloped iris + + ORCID:0000-0001-5208-3432 + Absent/underdeveloped iris + + + + Absence or underdevelopment of the iris. HPO:probinson @@ -200576,19 +201924,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small iris - - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped iris - - - - @@ -200686,8 +202027,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - orcid.org/0000-0001-5208-3432 Absent/underdeveloped uvea + ORCID:0000-0001-5208-3432 @@ -200728,7 +202069,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped eye - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped eye @@ -200736,7 +202077,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small eye - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -200778,9 +202119,9 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small fundus - Absent/small fundus - orcid.org/0000-0001-5208-3432 https://en.wikipedia.org/wiki/febrile_seizure + Absent/small fundus + ORCID:0000-0001-5208-3432 @@ -200822,15 +202163,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small optic nerve - Absent/underdeveloped optic nerve - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small optic nerve - orcid.org/0000-0001-5208-3432 - Absent/small optic nerve + Absent/underdeveloped optic nerve + ORCID:0000-0001-5208-3432 @@ -200872,7 +202213,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped macula - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped macula @@ -200915,18 +202256,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/underdeveloped fovea - Congenital absence or underdevelopment of the fovea centralis. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped fovea + + Congenital absence or underdevelopment of the fovea centralis. + HPO:probinson + + + @@ -200965,15 +202306,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small retina - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped retina + ORCID:0000-0001-5208-3432 + Absent/small retina - orcid.org/0000-0001-5208-3432 - Absent/small retina + Absent/underdeveloped retina + ORCID:0000-0001-5208-3432 @@ -201065,15 +202406,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + ORCID:0000-0001-5208-3432 Absent/underdeveloped lens - orcid.org/0000-0001-5208-3432 Absent/small lens - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -201151,15 +202492,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent/small skin - orcid.org/0000-0001-5208-3432 Absent/underdeveloped skin + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent/small skin + ORCID:0000-0001-5208-3432 @@ -201191,35 +202532,35 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w peter - Blisters + Abnormal blistering of the skin - HPO:probinson - The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. + HPO:skoehler + Skin blisters - + + - Blistering, generalized + Blisters - Abnormal blistering of the skin + HPO:probinson + The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. - - + - HPO:skoehler - Skin blisters + Blistering, generalized - + @@ -201238,15 +202579,15 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormally loose or stretchable skin - orcid.org/0000-0001-5208-3432 Abnormally loose or hyperelastic skin + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormally loose or stretchable skin - orcid.org/0000-0001-5208-3432 @@ -201308,12 +202649,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Skin cancer - - Skin cancer (non-melanoma) - - - - Tumor of the skin @@ -201328,15 +202663,21 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - Skin tumors + Dermatological tumors + HPO:sdoelken - - Dermatological tumors - HPO:sdoelken + Skin cancer (non-melanoma) + + + + + + Skin tumors + @@ -201395,18 +202736,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Sparse hair - - - - HPO:probinson Reduced density of hairs. + + Sparse hair + + + + @@ -201460,18 +202801,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C4024734 human_phenotype - - An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. - pmid:19038077 - - - Low maternal serum estriol + + An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. + pmid:19038077 + + + @@ -201597,18 +202938,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Absent 5th long bone of foot - A developmental abnormality characterized by the absence of the fifth metatarsal bone. - HPO:probinson - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent 5th long bone of foot + + A developmental abnormality characterized by the absence of the fifth metatarsal bone. + HPO:probinson + + + @@ -201706,8 +203047,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdeveloped 2nd-5th middle toe bones - http://orcid.org/0000-0001-5208-3432 Underdeveloped 2nd-5th middle toe bones + ORCID:0000-0001-5208-3432 @@ -201796,8 +203137,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Abnormality of the 5th long bone of foot + ORCID:0000-0001-5208-3432 Abnormality of the 5th long bone of foot - http://orcid.org/0000-0001-5208-3432 @@ -201856,12 +203197,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Underdevelopment (hypoplasia) of the fourth toe. human_phenotype - - HPO:probinson - Underdevelopment (hypoplasia) of the fourth toe. - - - Short 4th toe @@ -201874,6 +203209,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w + + HPO:probinson + Underdevelopment (hypoplasia) of the fourth toe. + + + @@ -201890,6 +203231,12 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Widely spaced toes human_phenotype + + Widely spaced toes + + + + An overall widening of the spaces between the digits. HPO:probinson @@ -201897,12 +203244,6 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w - - Widely spaced toes - - - - @@ -202034,19 +203375,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Delayed ankle bone maturation - - Delayed ankle bone maturation - http://orcid.org/0000-0001-5208-3432 - - - - Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HPO:probinson + + Delayed ankle bone maturation + ORCID:0000-0001-5208-3432 + + + + @@ -202114,8 +203455,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Accelerated ankle bone maturation + ORCID:0000-0001-5208-3432 Accelerated ankle bone maturation - http://orcid.org/0000-0001-5208-3432 @@ -202155,8 +203496,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Broad distal big toe - orcid.org/0000-0001-5208-3432 Broad distal big toe + ORCID:0000-0001-5208-3432 @@ -202283,8 +203624,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Curvature of 3rd toe - orcid.org/0000-0001-5208-3432 Curvature of 3rd toe + ORCID:0000-0001-5208-3432 @@ -202380,8 +203721,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Deformed ankle bones - orcid.org/0000-0001-5208-3432 Deformed ankle bones + ORCID:0000-0001-5208-3432 @@ -202628,19 +203969,19 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w human_phenotype Irregular ankle bone maturation - - http://orcid.org/0000-0001-5208-3432 - Irregular ankle bone maturation - - - - Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HPO:probinson + + ORCID:0000-0001-5208-3432 + Irregular ankle bone maturation + + + + @@ -202750,7 +204091,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Delayed heel bone maturation - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Delayed heel bone maturation @@ -202962,7 +204303,14 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0008160 UMLS:C4024725 human_phenotype + An increase in the level of 3-hydroxydicarboxylic acid in the urine. + + ORCID:0000-0001-5208-3432 + An increase in the level of 3-hydroxydicarboxylic acid in the urine. + + + @@ -203341,8 +204689,8 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Small adrenal cortex - orcid.org/0000-0001-5208-3432 Small adrenal cortex + ORCID:0000-0001-5208-3432 @@ -203384,7 +204732,7 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Early onset of puberty in males - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -203811,18 +205159,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Enlarged parathyroid glands - HPO:probinson - Hyperplasia of the parathyroid gland. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged parathyroid glands + + HPO:probinson + Hyperplasia of the parathyroid gland. + + + @@ -203851,26 +205199,26 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w HP:0001587 - Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. - HPO:probinson + Premature ovarian failure - + + - orcid.org/0000-0001-5208-3432 - Early menopause + Premature menopause - Premature ovarian failure + Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. + HPO:probinson - - + - Premature menopause + Early menopause + ORCID:0000-0001-5208-3432 @@ -204068,18 +205416,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w UMLS:C1621895 human_phenotype - - DDD:spark - Enlargement of the adrenal gland. - - - Enlarged adrenal glands + + DDD:spark + Enlargement of the adrenal gland. + + + @@ -204288,18 +205636,18 @@ MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative w Elevated FSH level Elevated follicle stimulating hormone - - Elevated FSH level - - - - An elevated concentration of follicle-stimulating hormone in the blood. HPO:probinson + + Elevated FSH level + + + + @@ -204424,16 +205772,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small adrenal medulla - Developmental hypoplasia of the adrenal medulla. - HPO:probinson + ORCID:0000-0001-5208-3432 + Small adrenal medulla - + - Small adrenal medulla - orcid.org/0000-0001-5208-3432 + Developmental hypoplasia of the adrenal medulla. + HPO:probinson - + @@ -204595,19 +205943,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Large thyroid - - Large thyroid - orcid.org/0000-0001-6908-9849 - - - - HPO:probinson Hyperplasia of the thyroid gland. + + Large thyroid + ORCID:0000-0001-6908-9849 + + + + @@ -204977,7 +206325,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cerebellar cortex degeneration @@ -205050,8 +206398,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy High blood insulin levels while fasting - orcid.org/0000-0001-5208-3432 High blood insulin levels while fasting + ORCID:0000-0001-5208-3432 @@ -205102,8 +206450,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy A partial reduction in level of the complement component Factor H in circulation. - A partial reduction in level of the complement component Factor H in circulation. https://emedicine.medscape.com/article/135478-overview + A partial reduction in level of the complement component Factor H in circulation. @@ -205143,7 +206491,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy HP:0008293 UMLS:C1837273 human_phenotype + An increase in the level of long-chain dicarboxylic acid in the urine. + + ORCID:0000-0001-5208-3432 + An increase in the level of long-chain dicarboxylic acid in the urine. + + + @@ -205328,7 +206683,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy HP:0008309 UMLS:C1860081 human_phenotype + An increase in the level of medium chain dicarboxylic acid in the urine. + + ORCID:0000-0001-5208-3432 + An increase in the level of medium chain dicarboxylic acid in the urine. + + + @@ -205527,7 +206889,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Decreased factor x activity @@ -205611,8 +206973,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Reduced vitamin b6 levels - orcid.org/0000-0001-6908-9849 Reduced vitamin b6 levels + ORCID:0000-0001-6908-9849 @@ -205659,12 +207021,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA). Decreased von willebrand factor activity - - orcid.org/0000-0001-6908-9849 - Decreased von willebrand factor activity - - - Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. HPO:probinson @@ -205672,6 +207028,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Decreased von willebrand factor activity + ORCID:0000-0001-6908-9849 + + + @@ -205690,33 +207052,33 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased creatine kinase after exercise - orcid.org/0000-0001-6908-9849 - Elevated creatine phosphokinase after exercise - https://en.wikipedia.org/wiki/creatine_kinase + Increased creatine phosphokinase after exercise + ORCID:0000-0001-6908-9849 - Increased creatine phosphokinase after exercise - orcid.org/0000-0001-6908-9849 + Increased phospho-creatine kinase after exercise + ORCID:0000-0001-6908-9849 - Increased phospho-creatine kinase after exercise - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + https://en.wikipedia.org/wiki/creatine_kinase + Elevated creatine phosphokinase after exercise Elevated phospho-creatine kinase after exercise + ORCID:0000-0001-6908-9849 https://en.wikipedia.org/wiki/creatine_kinase - orcid.org/0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Increased creatine kinase after exercise @@ -205767,21 +207129,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy HP:0008338 UMLS:C4024699 human_phenotype - Partial functional factor d deficiency A partial reduction in level of the complement component Factor D in circulation. + Partial functional factor d deficiency Partial functional adipsin deficiency - orcid.org/0000-0001-6908-9849 - Partial functional adipsin deficiency + ORCID:0000-0001-6908-9849 https://en.wikipedia.org/wiki/Factor_D + Partial functional adipsin deficiency - https://en.wikipedia.org/wiki/factor_d - orcid.org/0000-0001-6908-9849 Partial functional factor d deficiency + ORCID:0000-0001-6908-9849 + https://en.wikipedia.org/wiki/factor_d @@ -205916,25 +207278,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped iris dilator muscle + ORCID:0000-0001-6908-9849 Hypoplasia of the pupil dilator muscle - orcid.org/0000-0001-6908-9849 - HPO:probinson - Underdevelopment of the dilatator pupillae. + ORCID:0000-0001-6908-9849 + Underdeveloped pupil dilator muscle - + - orcid.org/0000-0001-6908-9849 - Underdeveloped pupil dilator muscle + HPO:probinson + Underdevelopment of the dilatator pupillae. - + - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Underdeveloped iris dilator muscle @@ -205954,14 +207316,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased sickling of erythrocytes + ORCID:0000-0001-6908-9849 Increased sickling of red cells - orcid.org/0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 Increased sickling of erythrocytes + ORCID:0000-0001-6908-9849 @@ -206021,16 +207383,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Impaired thrombocytes adhesion - An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. - HPO:probinson + ORCID:0000-0001-6908-9849 + Impaired thrombocytes adhesion - + - orcid.org/0000-0001-6908-9849 - Impaired thrombocytes adhesion + An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. + HPO:probinson - + @@ -206072,6 +207434,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy obsolete Combined hyperlipidemia HP:0008356 true + HP:0003077 @@ -206138,7 +207501,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Prolinemia - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Prolinemia @@ -206222,16 +207585,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small big toe Absent/underdeveloped big toe - - orcid.org/0000-0001-6908-9849 - Absent/small big toe - - - - Absent/underdeveloped big toe - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -206242,6 +207598,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-6908-9849 + Absent/small big toe + + + + @@ -206283,15 +207646,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small ankle bone - orcid.org/0000-0001-6908-9849 - Absent/small ankle bone - - - - - - orcid.org/0000-0001-6908-9849 Absent/underdeveloped ankle bone + ORCID:0000-0001-6908-9849 @@ -206302,6 +207658,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Absent/small ankle bone + ORCID:0000-0001-6908-9849 + + + + @@ -206339,7 +207702,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal heel bone - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Abnormal heel bone @@ -206388,18 +207751,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal large bone of ankle - An abnormality of the talus. - HPO:probinson - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Abnormal large bone of ankle + + An abnormality of the talus. + HPO:probinson + + + @@ -206438,8 +207801,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Contractures of the foot joints - orcid.org/0000-0001-6908-9849 Contractures of the foot joints + ORCID:0000-0001-6908-9849 @@ -206505,7 +207868,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused ankle bones @@ -206561,13 +207924,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Hardening of ankle bones Abnormal maturation of ankle bones - - orcid.org/0000-0001-6908-9849 - Hardening of ankle bones - - - - An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HPO:probinson @@ -206575,12 +207931,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal maturation of ankle bones + + Hardening of ankle bones + ORCID:0000-0001-6908-9849 + + + + @@ -206631,7 +207994,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal maturation of long bone of foot - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -206712,8 +208075,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Breathy speech - orcid.org/0000-0001-6908-9849 Breathy speech + ORCID:0000-0001-6908-9849 @@ -206814,15 +208177,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small nails - orcid.org/0000-0001-6908-9849 - Absent/small nails - - - - - - orcid.org/0000-0001-6908-9849 Absent/underdeveloped nails + ORCID:0000-0001-6908-9849 @@ -206833,6 +208189,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-6908-9849 + Absent/small nails + + + + @@ -206902,12 +208265,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C4021542 human_phenotype - - Recurrent loss of toenails and fingernails - - - - DDD:cmoss Recurrent loss, or shedding, of the nails of the fingers and toes. @@ -206920,6 +208277,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Recurrent loss of toenails and fingernails + + + + @@ -206956,19 +208319,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Poor fingernail formation - HPO:probinson - The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. - - - - - http://naildystrophy.com/ - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Poor fingernail formation + http://naildystrophy.com/ + + HPO:probinson + The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. + + + @@ -206993,7 +208356,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Thickened, discolored skin under nail - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -207025,8 +208388,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Congenital malformed nails + ORCID:0000-0001-6908-9849 Congenital malformed nails - orcid.org/0000-0001-6908-9849 @@ -207089,35 +208452,35 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped fingernail of pinkie finger - Underdeveloped fingernail of pinkie finger - orcid.org/0000-0001-6908-9849 + A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. + HPO:probinson - - + - Underdeveloped fingernail of pinky finger - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Underdeveloped fifth fingernail - orcid.org/0000-0001-6908-9849 - Underdeveloped fifth fingernail + ORCID:0000-0001-6908-9849 + Underdeveloped fingernail of pinkie finger - A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. - HPO:probinson + Underdeveloped fingernail of pinky finger + ORCID:0000-0001-6908-9849 - + + + ORCID:0000-0001-6908-9849 Underdeveloped fingernail of little finger - orcid.org/0000-0001-6908-9849 @@ -207144,7 +208507,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Thick skin around nails @@ -207164,19 +208527,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Detachment of outermost fingernails - - Detachment of outermost fingernails - orcid.org/0000-0001-5208-3432 - - - - Detachment of the distal fingernails from the nail bed. HPO:probinson + + ORCID:0000-0001-5208-3432 + Detachment of outermost fingernails + + + + @@ -207220,8 +208583,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Overgrowth and curving of toenails - orcid.org/0000-0001-5208-3432 @@ -207250,23 +208613,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Ridged fingernail + HPO:skoehler + Ridged fingernails - + - Longitudinally grooved fingernails + Ridged fingernail - HPO:skoehler - Ridged fingernails + Longitudinally grooved fingernails - + @@ -207323,9 +208686,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 - http://naildystrophy.com/ Poor nail formation + ORCID:0000-0001-5208-3432 + http://naildystrophy.com/ @@ -207344,8 +208707,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Tightly curved thumb nail - orcid.org/0000-0001-6908-9849 Tightly curved thumb nail + ORCID:0000-0001-6908-9849 @@ -207378,15 +208741,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Round back in infancy - Hunched back in infancy - orcid.org/0000-0001-6908-9849 + Round back in infancy + ORCID:0000-0001-6908-9849 - Round back in infancy - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Hunched back in infancy @@ -207502,18 +208865,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Degenerative disc disease - - http://orcid.org/0000-0001-6908-9849 - Degenerative disc disease - - - HPO:probinson The presence of degenerative changes of intervertebral disk. + + ORCID:0000-0001-6908-9849 + Degenerative disc disease + + + @@ -207630,18 +208993,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wedge-shaped vertebrae human_phenotype - - An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. - HPO:probinson - - - Wedge-shaped vertebrae + + An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. + HPO:probinson + + + @@ -207715,8 +209078,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped 5th lumbar vertebrae - orcid.org/0000-0001-6908-9849 Underdeveloped 5th lumbar vertebrae + ORCID:0000-0001-6908-9849 @@ -207894,8 +209257,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped cervical vertebrae - orcid.org/0000-0001-6908-9849 Underdeveloped cervical vertebrae + ORCID:0000-0001-6908-9849 @@ -207947,14 +209310,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small tailbone - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 Absent/underdeveloped tailbone + ORCID:0000-0001-6908-9849 @@ -208163,7 +209526,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Herniated disk - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -208445,18 +209808,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Rounded lower back - HPO:probinson - Over curvature of the lumbar region. - - - - - orcid.org/0000-0001-6908-9849 Rounded lower back + ORCID:0000-0001-6908-9849 + + HPO:probinson + Over curvature of the lumbar region. + + + @@ -208591,7 +209954,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Missing cervical vertebrae @@ -208630,8 +209993,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped spinal processes + ORCID:0000-0001-6908-9849 Underdeveloped spinal processes - http://orcid.org/0000-0001-6908-9849 @@ -208769,18 +210132,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype A developmental defect characterized by agenesis of one or more vetebral bodies. - - A developmental defect characterized by agenesis of one or more vetebral bodies. - PMID:26167231 - - - Absent vertebrae + + PMID:26167231 + A developmental defect characterized by agenesis of one or more vetebral bodies. + + + @@ -208914,18 +210277,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Large tailbone - Large tailbone - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Prominent protruding tailbone - + - Prominent protruding tailbone - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Large tailbone - + @@ -209186,8 +210549,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cervical oestoarthritis + Neck arthritis + ORCID:0000-0001-6908-9849 + + + + + + ORCID:0000-0001-6908-9849 Cervical oestoarthritis - orcid.org/0000-0001-6908-9849 @@ -209197,13 +210567,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Neck arthritis - orcid.org/0000-0001-6908-9849 - - - - @@ -209398,16 +210761,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Inferior subluxated lens - HPO:probinson - Partial displacement of the lens in the inferior direction. + ORCID:0000-0001-6908-9849 + Inferior subluxated lens - + - orcid.org/0000-0001-6908-9849 - Inferior subluxated lens + HPO:probinson + Partial displacement of the lens in the inferior direction. - + @@ -209434,22 +210797,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Two rows of eyelashes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Extra rows of eyelashes - + - orcid.org/0000-0001-5889-4463 - Extra rows of eyelashes + Double row of eyelashes + ORCID:0000-0001-5889-4463 - + - Double row of eyelashes - orcid.org/0000-0001-5889-4463 + Two rows of eyelashes + ORCID:0000-0001-5889-4463 @@ -209484,34 +210847,34 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy No secondary dentition - Missing adult teeth - orcid.org/0000-0001-5889-4463 + No secondary dentition + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - No secondary dentition + Missing adult teeth + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 Absence of secondary dentition - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Absence of adult teeth + ORCID:0000-0001-5889-4463 No adult dentition - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -209530,28 +210893,29 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Severe farsightedness Severe long-sightedness High-grade hypermetropia + High hyperopia - A severe form of hypermetropia with over +5.00 diopters. - DDD:ncarter - UManchester:psergouniotis - - - - + ORCID:0000-0001-6908-9849 Severe long-sightedness - orcid.org/0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Severe farsightedness + + A severe form of hypermetropia with over +5.00 diopters. + DDD:ncarter + ORCID:0000-0003-0986-4123 + + + @@ -209590,19 +210954,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Central cleft lip and palate - orcid.org/0000-0001-5889-4463 - - - - Cleft lip or palate affecting the midline region of the palate. HPO:sdoelken + + Central cleft lip and palate + ORCID:0000-0001-5889-4463 + + + + @@ -209774,15 +211138,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small vetebrae - Absent/small vetebrae - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped vetebrae + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped vetebrae + ORCID:0000-0001-5208-3432 + Absent/small vetebrae @@ -209866,15 +211230,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Absent/small sacrum + Absent/underdeveloped sacrum + ORCID:0000-0001-5208-3432 - Absent/underdeveloped sacrum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small sacrum @@ -209921,43 +211285,43 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small spine + ORCID:0000-0001-5208-3432 Absent/small vertebral column - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-6908-9849 - Absent/underdeveloped backbone + Absent/underdeveloped spine + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 - Absent/small backbone + ORCID:0000-0001-6908-9849 + Absent/small spine - orcid.org/0000-0001-6908-9849 - Absent/underdeveloped spine + ORCID:0000-0001-6908-9849 + Absent/small backbone - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped vetebral column + ORCID:0000-0001-6908-9849 + Absent/underdeveloped backbone - Absent/small spine - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped vetebral column @@ -210000,19 +211364,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormal tailbone - - orcid.org/0000-0001-6908-9849 - Abnormal tailbone - - - - An abnormality of the coccyx. HPO:probinson + + ORCID:0000-0001-6908-9849 + Abnormal tailbone + + + + @@ -210040,8 +211404,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-6908-9849 Indentation in back of outer ear - orcid.org/0000-0001-6908-9849 @@ -210104,18 +211468,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Ear hair - Ear hair - orcid.org/0000-0001-6908-9849 + Long hairs growing from helix of ear + ORCID:0000-0001-6908-9849 - + - Long hairs growing from helix of ear - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Ear hair - + @@ -210155,8 +211519,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cleft at the superior portion of the ear - orcid.org/0000-0001-6908-9849 Cleft at the superior portion of the ear + ORCID:0000-0001-6908-9849 @@ -210174,8 +211538,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy High set ears - orcid.org/0000-0001-6908-9849 High set ears + ORCID:0000-0001-6908-9849 @@ -210195,18 +211559,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C0271514 human_phenotype - - A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). - HPO:probinson - - - Low-frequency hearing loss + + A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). + HPO:probinson + + + @@ -210289,6 +211653,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype + + Small ears + + + + HPO:probinson Underdevelopment of the external ear. @@ -210303,12 +211673,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Small ears - - - - @@ -210452,35 +211816,35 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Shell ear - Mini ear + Cockleshell ear - Shell ear + Snail ear - Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. - pmid:19152421 - eom:ae27d9699faef13a + Shell ear - + + - Cockleshell ear + Mini ear - Snail ear + Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. + pmid:19152421 + eom:ae27d9699faef13a - - + @@ -210625,8 +211989,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped cochlea + ORCID:0000-0001-6908-9849 Underdeveloped cochlea - http://orcid.org/0000-0001-6908-9849 @@ -210719,7 +212083,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped helices - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -210863,8 +212227,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Deformed external ear on one side - http://orcid.org/0000-0001-5208-3432 Deformed external ear on one side + ORCID:0000-0001-5208-3432 @@ -210886,13 +212250,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Supraauricular fistula Pit above the ear - - orcid.org/0000-0001-5889-4463 - Pit above the ear - - - - Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. HPO:sdoelken @@ -210900,11 +212257,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 Supraauricular fistula + ORCID:0000-0001-5889-4463 + + Pit above the ear + ORCID:0000-0001-5889-4463 + + + + @@ -211012,18 +212376,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C1857456 human_phenotype - - An abnormality of the morphology or structure of the middle ear. - DDD:mbitner-glidicz - - - Morphological abnormality of the middle ear + + An abnormality of the morphology or structure of the middle ear. + DDD:mbitner-glidicz + + + Middle ear malformation @@ -211139,18 +212503,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Severe sensorineural deafness - - http://orcid.org/0000-0001-6908-9849 - Severe sensorineural deafness - - - A severe form of sensorineural hearing impairment. HPO:probinson + + ORCID:0000-0001-6908-9849 + Severe sensorineural deafness + + + @@ -211360,8 +212724,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped gonad + ORCID:0000-0001-5208-3432 Underdeveloped gonad - orcid.org/0000-0001-5208-3432 @@ -211571,13 +212935,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small fallopian tube Absent/underdeveloped fallopian tube - - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped fallopian tube - - - - Aplasia or developmental hypoplasia of the fallopian tube. HPO:probinson @@ -211585,8 +212942,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Absent/small fallopian tube - http://orcid.org/0000-0001-5208-3432 + + + + + + Absent/underdeveloped fallopian tube + ORCID:0000-0001-5208-3432 @@ -211691,19 +213055,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Narrowing of the urethra - - orcid.org/0000-0001-5208-3432 - Narrowing of the urethra - - - - Abnormal narrowing of the urethra. HPO:probinson + + ORCID:0000-0001-5208-3432 + Narrowing of the urethra + + + + @@ -211931,18 +213295,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Calcium oxalate kidney stones - - Calcium oxalate kidney stones - orcid.org/0000-0001-6908-9849 - - - HPO:probinson The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. + + Calcium oxalate kidney stones + ORCID:0000-0001-6908-9849 + + + @@ -212034,13 +213398,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped kidney - Absence or underdevelopment of the kidney. - HPO:probinson - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small kidney @@ -212048,11 +213406,17 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped kidney - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absence or underdevelopment of the kidney. + HPO:probinson + + + @@ -212183,25 +213547,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped uterus - Absence or developmental hypoplasia of the uterus. - HPO:probinson - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small uterus + ORCID:0000-0001-5208-3432 Absent/underdeveloped uterus - http://orcid.org/0000-0001-5208-3432 + + Absence or developmental hypoplasia of the uterus. + HPO:probinson + + + @@ -212237,7 +213601,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped prostate - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Underdeveloped prostate @@ -212313,7 +213677,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy obsolete Hypertrophic labia minora HP:0008694 - human_phenotype true @@ -212330,8 +213693,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Transient nephrosis + ORCID:0000-0001-6908-9849 Transient nephrosis - orcid.org/0000-0001-6908-9849 @@ -212428,7 +213791,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Underdeveloped fallopian tube @@ -212546,18 +213909,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately. - - Absent scrotum - - - - Congenital absence of the scrotum. HPO:probinson + + Absent scrotum + + + + @@ -212740,13 +214103,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Unilateral kidney wasting Kidney degeneration on one side - - orcid.org/0000-0001-5208-3432 - Unilateral kidney wasting - - - - A unilateral form of atrophy of the kidney. HPO:probinson @@ -212754,8 +214110,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Kidney degeneration on one side - orcid.org/0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Unilateral kidney wasting @@ -212898,18 +214261,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped ovary - Developmental hypoplasia of the ovary. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped ovary + + Developmental hypoplasia of the ovary. + HPO:probinson + + + @@ -212956,8 +214319,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Underdeveloped vagina + ORCID:0000-0001-5208-3432 @@ -212976,8 +214339,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent vaginal lips + ORCID:0000-0001-5208-3432 Absent vaginal lips - orcid.org/0000-0001-5208-3432 @@ -213094,12 +214457,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Decreased testicular size - - - - Small testis @@ -213112,6 +214469,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Decreased testicular size + + + + @@ -213597,18 +214960,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent epiglottis - - Absent epiglottis - orcid.org/0000-0001-5208-3432 - - - Absence of the epiglottis. HPO:probinson + + ORCID:0000-0001-5208-3432 + Absent epiglottis + + + @@ -213865,8 +215228,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Hallucinations of sound - orcid.org/0000-0001-5208-3432 Hallucinations of sound + ORCID:0000-0001-5208-3432 @@ -213953,6 +215316,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C1834433 human_phenotype + + HPO:curators + The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. + + + Obsessive-compulsive traits @@ -213965,12 +215334,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - HPO:curators - The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. - - - @@ -214009,8 +215372,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small ear - Absent/underdeveloped ear - http://orcid.org/0000-0001-5208-3432 + Absent/small ear + ORCID:0000-0001-5208-3432 @@ -214022,8 +215385,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 - Absent/small ear + ORCID:0000-0001-5208-3432 + Absent/underdeveloped ear @@ -214068,7 +215431,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped external ear - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -214080,7 +215443,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small external ear @@ -214129,24 +215492,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small middle ear - Aplasia or developmental hypoplasia of all or part of the middle ear. - HPO:probinson + Absent/underdeveloped middle ear + ORCID:0000-0001-5208-3432 - + + + ORCID:0000-0001-5208-3432 Absent/small middle ear - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle ear - http://orcid.org/0000-0001-5208-3432 + Aplasia or developmental hypoplasia of all or part of the middle ear. + HPO:probinson - - + @@ -214186,6 +215549,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped inner ear Absent/small inner ear + + Absent/small inner ear + ORCID:0000-0001-5208-3432 + + + + Aplasia or developmental hypoplasia of the inner ear. HPO:probinson @@ -214193,15 +215563,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Absent/underdeveloped inner ear - http://orcid.org/0000-0001-5208-3432 - - - - - - http://orcid.org/0000-0001-5208-3432 - Absent/small inner ear @@ -214293,8 +215656,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal kidney artery - orcid.org/0000-0001-5208-3432 Abnormal kidney artery + ORCID:0000-0001-5208-3432 @@ -214311,14 +215674,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormality of the vocal cords + Abnormal vocal cord morphology - + @@ -214427,19 +215790,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy HP:0008790 Wide metaphysis of innermost thighbone - - orcid.org/0000-0001-5208-3432 - Wide metaphysis of innermost thighbone - - - - HPO:probinson Increased width of the proximal part of the shaft (metaphysis) of the femur. + + ORCID:0000-0001-5208-3432 + Wide metaphysis of innermost thighbone + + + + @@ -214474,19 +215837,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Wide end part of innermost thighbone - - Wide end part of innermost thighbone - orcid.org/0000-0001-5208-3432 - - - - Abnormally wide morphology of the proximal epiphysis of the femur. HPO:probinson + + ORCID:0000-0001-5208-3432 + Wide end part of innermost thighbone + + + + @@ -214610,14 +215973,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Delayed mineralization of pubic bone + ORCID:0000-0001-5208-3432 + Delayed maturation fo pubic bone - Delayed maturation fo pubic bone - orcid.org/0000-0001-5208-3432 + Delayed mineralization of pubic bone @@ -214663,19 +216026,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of innermost thighbone - - Cone-shaped end part of innermost thighbone - orcid.org/0000-0001-5208-3432 - - - - A cone-shaped deformity of the proximal epiphysis of the femur. HPO:probinson + + ORCID:0000-0001-5208-3432 + Cone-shaped end part of innermost thighbone + + + + @@ -214923,18 +216286,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small head of thigh bone - HPO:probinson - Underdevelopment of the femoral head. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small head of thigh bone + + HPO:probinson + Underdevelopment of the femoral head. + + + @@ -214949,8 +216312,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch. - HPO:probinson The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch. + HPO:probinson @@ -214989,18 +216352,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide head of thigh bone - HPO:probinson - Increased width of the femoral head. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide head of thigh bone + + HPO:probinson + Increased width of the femoral head. + + + @@ -215125,19 +216488,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - orcid.org/0000-0001-5208-3432 - Flat head of thigh bone - - - - Flattened femoral heads HPO:skoehler + + Flat head of thigh bone + ORCID:0000-0001-5208-3432 + + + + @@ -215172,8 +216535,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent pubic bones - orcid.org/0000-0001-5208-3432 Absent pubic bones + ORCID:0000-0001-5208-3432 @@ -215253,8 +216616,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Narrow neck of thigh bone - orcid.org/0000-0001-5208-3432 Narrow neck of thigh bone + ORCID:0000-0001-5208-3432 @@ -215426,7 +216789,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy HPO:skoehler - Small iliac bodies + Hypoplastic iliac bodies @@ -215438,7 +216801,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy HPO:skoehler - Hypoplastic iliac bodies + Small iliac bodies @@ -215478,19 +216841,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Dislocated head of thigh bone - - orcid.org/0000-0001-5208-3432 - Dislocated head of thigh bone - - - - HPO:probinson Joint dislocation of the femoral head. + + Dislocated head of thigh bone + ORCID:0000-0001-5208-3432 + + + + @@ -215598,8 +216961,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 Delayed maturation of the head of the thigh bone + ORCID:0000-0001-5208-3432 @@ -215737,7 +217100,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of innermost long bone of upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -215932,12 +217295,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Severe growth delay in children - - Severe postnatal growth failure - - - - DDD:hfirth Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. @@ -215945,14 +217302,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Marked growth retardation + Severe postnatal growth failure - orcid.org/0000-0001-5208-3432 Severe growth delay in children + ORCID:0000-0001-5208-3432 + + + + + + Marked growth retardation @@ -215972,7 +217335,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Moderate growth delay in children - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Moderate growth delay in children @@ -216020,7 +217383,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Weight faltering secondary to recurrent infections - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Weight faltering secondary to recurrent infections @@ -216033,8 +217396,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 Faltering weight secondary to recurrent infections + ORCID:0000-0001-5208-3432 @@ -216119,14 +217482,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:skoehler - Short limb dwarfism - - - - - - Short-limbed dwarfism + Short limb dwarfism, disproportionate @@ -216138,7 +217494,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Short limb dwarfism, disproportionate + HPO:skoehler + Short limb dwarfism + + + + + + Short-limbed dwarfism @@ -216210,18 +217573,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Loss of fat tissue - A loss of adipose tissue. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Loss of fat tissue - orcid.org/0000-0001-5208-3432 + + A loss of adipose tissue. + HPO:probinson + + + @@ -216264,7 +217627,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Growth delay as children @@ -216362,28 +217725,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - Short limb dwarfism recognizable at birth + A type of short-limbed dwarfism that is manifest beginning in the neonatal period. + HPO:probinson - - + - Short-limbed dwarfism identifiable at birth + Short-limb dwarfism identifiable at birth - Short-limb dwarfism identifiable at birth + Short-limbed dwarfism identifiable at birth - A type of short-limbed dwarfism that is manifest beginning in the neonatal period. - HPO:probinson + Short limb dwarfism recognizable at birth - + + @@ -216403,13 +217766,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - Short-trunk dwarfism identifiable during childhood + Childhood-onset short-trunk short stature - Childhood-onset short-trunk short stature + Short-trunk dwarfism identifiable during childhood @@ -216453,19 +217816,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Generalized low muscle tone in neonate - - orcid.org/0000-0001-5208-3432 - Generalized low muscle tone in neonate - - - - HPO:probinson Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. + + ORCID:0000-0001-5208-3432 + Generalized low muscle tone in neonate + + + + @@ -216504,8 +217867,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Low muscle tone in trunk + ORCID:0000-0001-5208-3432 Low muscle tone in trunk - orcid.org/0000-0001-5208-3432 @@ -216532,15 +217895,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Swollen lymph nodes affecting all regions of the body Generalized swelling of lymph nodes - - Swollen lymph nodes affecting all regions of the body - - - - Generalized swelling of lymph nodes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -216551,6 +217908,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Swollen lymph nodes affecting all regions of the body + + + + @@ -216605,7 +217968,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Lower limb degeneration @@ -216695,7 +218058,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Decreased muscle tone in infant @@ -216796,7 +218159,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped shoulder muscle @@ -216953,18 +218316,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wasting of thigh muscle - HPO:probinson - Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. - - - - - orcid.org/0000-0001-5208-3432 Wasting of thigh muscle + ORCID:0000-0001-5208-3432 + + HPO:probinson + Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. + + + @@ -217022,8 +218385,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped calf muscles + ORCID:0000-0001-5208-3432 Underdeveloped calf muscles - orcid.org/0000-0001-5208-3432 @@ -217284,18 +218647,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Decreased activity of the mitochondrial respiratory chain. - HPO:probinson - - - Decreased activity of mitochondrial respiratory complexes HPO:skoehler + + Decreased activity of the mitochondrial respiratory chain. + HPO:probinson + + + @@ -217349,8 +218712,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased size of calf muscles + ORCID:0000-0001-5208-3432 Increased size of calf muscles - orcid.org/0000-0001-5208-3432 @@ -217402,39 +218765,39 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Decreased size of neck muscle Small neck muscle - - orcid.org/0000-0001-5889-4463 - Hypotrophic neck muscle - - - Underdevelopment of neck muscle - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Small neck muscle - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypotrophic neck muscle + + + + + Deficiency of neck muscle + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 Decreased size of neck muscle + ORCID:0000-0001-5889-4463 - Deficiency of neck muscle - orcid.org/0000-0001-5889-4463 + Small neck muscle + ORCID:0000-0001-5889-4463 - + HPO:curators @@ -217487,18 +218850,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C1835389 human_phenotype - - Increased intramuscular fat - - - - An abnormal increase in the amount of intramuscular fat tissue. HPO:curators + + Increased intramuscular fat + + + + @@ -217538,7 +218901,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent diaphragm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent diaphragm @@ -217763,8 +219126,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped pec muscle - orcid.org/0000-0001-5208-3432 - Underdeveloped pec muscle + Small pec muscle + ORCID:0000-0001-5208-3432 @@ -217776,8 +219139,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Small pec muscle + ORCID:0000-0001-5208-3432 + Underdeveloped pec muscle @@ -217830,18 +219193,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Loss of fat tissue in trunk - HPO:probinson - Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Loss of fat tissue in trunk + + HPO:probinson + Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. + + + @@ -217894,8 +219257,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Increased fat below the skin in trunk - orcid.org/0000-0001-5208-3432 @@ -217938,13 +219301,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Underdeveloped muscle - - Underdeveloped muscle - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Underdevelopment of the musculature. @@ -217957,6 +219313,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Underdeveloped muscle + ORCID:0000-0001-5208-3432 + + + + @@ -218007,18 +219370,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Hypoplastic biceps - HPO:curators - Underdevelopment of the biceps muscle. - - - - + ORCID:0000-0001-5208-3432 Underdeveloped biceps - orcid.org/0000-0001-5208-3432 + + HPO:curators + Underdevelopment of the biceps muscle. + + + @@ -218134,8 +219497,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Underdevelopment of upper limb muscles + ORCID:0000-0001-5208-3432 @@ -218191,7 +219554,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Loss of fat tissue below the skin in gluts @@ -218217,41 +219580,41 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Facial fat wasting - Progressive loss of facial subcutaneous adipose tissue - orcid.org/0000-0001-5889-4462 + Facial fat atrophy + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Facial fat wasting + Atrophy of facial adipose tissue + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4461 - Progressive loss of subcutaneous adipose tissue from face + Progressive loss of facial subcutaneous adipose tissue + ORCID:0000-0001-5889-4462 - orcid.org/0000-0001-5889-4463 Progressive loss of facial fat + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Atrophy of facial adipose tissue + ORCID:0000-0001-5889-4461 + Progressive loss of subcutaneous adipose tissue from face - orcid.org/0000-0001-5889-4463 - Facial fat atrophy + Facial fat wasting + ORCID:0000-0001-5889-4463 + @@ -218596,18 +219959,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C0560346 human_phenotype - - Difficulty running - - - - HPO:probinson Reduced ability to run. + + Difficulty running + + + + @@ -218687,8 +220050,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wasting of quad muscles - orcid.org/0000-0001-5208-3432 Wasting of quad muscles + ORCID:0000-0001-5208-3432 @@ -218828,19 +220191,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Generalized muscle wasting - - orcid.org/0000-0001-5208-3432 - Generalized muscle wasting - - - - Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. HPO:probinson + + Generalized muscle wasting + ORCID:0000-0001-5208-3432 + + + + @@ -218886,7 +220249,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Loss of fat tissue below the skin from upper limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -218943,38 +220306,38 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - Increased muscle lipid content + An abnormal accumulation of lipids in skeletal muscle. + HPO:probinson + pmid:20691590 - - + - Skeletal muscle lipid accumulation + Fat deposits in muscle fibers - An abnormal accumulation of lipids in skeletal muscle. - HPO:probinson - pmid:20691590 + Fat accumulation in muscle fibers - + + - Lipid accumulation in skeletal muscle + Skeletal muscle lipid accumulation - Fat deposits in muscle fibers + Lipid accumulation in skeletal muscle - Fat accumulation in muscle fibers + Increased muscle lipid content @@ -219139,8 +220502,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Progressive spinal muscle wasting - Progressive spinal muscle wasting - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Progressive spinal muscle degeneration @@ -219152,8 +220515,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Progressive spinal muscle degeneration - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Progressive spinal muscle wasting @@ -219253,38 +220616,38 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C1851853 human_phenotype Midline notch of upper gum ridge - Midline notch of maxillary alveolar ridge Midline cleft of upper alveolar ridge + Midline notch of maxillary alveolar ridge Midline notch of maxillary alveolar process Midline cleft of maxillary alveolar process - orcid.org/0000-0001-5889-4463 - Midline cleft of upper alveolar ridge + Midline notch of maxillary alveolar ridge + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Midline notch of upper gum ridge + ORCID:0000-0001-5889-4463 + Midline cleft of upper alveolar ridge - Midline notch of maxillary alveolar ridge - orcid.org/0000-0001-5889-4463 + Midline notch of upper gum ridge + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Midline cleft of maxillary alveolar process - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Midline notch of maxillary alveolar process + ORCID:0000-0001-5889-4463 @@ -219338,54 +220701,54 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Increased size of gum ridge - orcid.org/0000-0001-5889-4463 + Alveolar ridge excess + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Increased size of alveolar ridge + ORCID:0000-0001-5889-4463 + Enlarged alveolar ridge - orcid.org/0000-0001-5889-4463 - Hyperplasia of alveolar process of jaw + Increased size of alveolar ridge + ORCID:0000-0001-5889-4463 - Enlarged alveolar ridge - orcid.org/0000-0001-5889-4463 + Increased width of the alveolar ridges. + pmid:19125428 - + - orcid.org/0000-0001-5889-4463 - Alveolar ridge excess + ORCID:0000-0001-5889-4463 + Overgrowth of gum ridge + + ORCID:0000-0001-5889-4463 Hyperplasia of alveolar ridge - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Overgrowth of gum ridge + Increased size of gum ridge + ORCID:0000-0001-5889-4463 - + - Increased width of the alveolar ridges. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Hyperplasia of alveolar process of jaw - + @@ -219477,22 +220840,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Progressive hypertrophy of alveolar process of jaw - orcid.org/0000-0001-5889-4463 - Increasing overgrowth of gum ridge + ORCID:0000-0001-5889-4463 + Increasing size of gum ridge - + - Increasing size of gum ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increasing overgrowth of gum ridge - + Progressive hypertrophy of alveolar process of jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -219542,65 +220905,65 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cleft of mandibular gingiva - Notch of mandibular alveolar ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cleft of lower alveolar process - + - Cleft of lower gingiva - orcid.org/0000-0001-5889-4463 + Notch of mandibular alveolar process + ORCID:0000-0001-5889-4463 - Notch of lower alveolar ridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cleft of lower gingiva - + - Notch of mandibular alveolar process - orcid.org/0000-0001-5889-4463 + Cleft of mandibular gingiva + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Cleft of lower alveolar process + ORCID:0000-0001-5889-4463 + Notch of lower gum ridge - + + - orcid.org/0000-0001-5889-4463 - Cleft of mandibular gingiva + Notch of mandibular alveolar ridge + ORCID:0000-0001-5889-4463 - + - Cleft of mandibular alveolar process - orcid.org/0000-0001-5889-4463 + Notch of lower alveolar process + ORCID:0000-0001-5889-4463 - Notch of lower gum ridge - orcid.org/0000-0001-5889-4463 + Cleft of lower gum ridge + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Notch of lower alveolar process + Cleft of mandibular alveolar process + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Cleft of lower gum ridge + ORCID:0000-0001-5889-4463 + Notch of lower alveolar ridge - @@ -219618,7 +220981,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Chronic oral thrush - orcid.org/0000-0002-0736-9199 + ORCID:0000-0002-0736-9199 Chronic oral thrush @@ -219665,19 +221028,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Central cleft palate - orcid.org/0000-0001-5889-4463 - - - - Cleft palate of the midline of the palate. HPO:probinson + + ORCID:0000-0001-5889-4463 + Central cleft palate + + + + @@ -219712,7 +221075,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Thick anterior alveolar process of jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thick anterior alveolar process of jaw @@ -219763,7 +221126,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Submucous labial cleft - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Submucous labial cleft @@ -219791,8 +221154,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absence of overlap of anterior upper and lower teeth - Absence of overlap of anterior upper and lower teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Gap between upper and lower front teeth when biting @@ -219804,14 +221167,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Gap between upper and lower front teeth when biting - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of overlap of anterior upper and lower teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Anterior open bite between upper and lower teeth @@ -219853,14 +221216,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped pelvis - Absent/small pelvis - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped pelvis + ORCID:0000-0001-5208-3432 - Absent/underdeveloped pelvis - orcid.org/0000-0001-5208-3432 + Absent/small pelvis + ORCID:0000-0001-5208-3432 @@ -219905,15 +221268,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped pubic bones - orcid.org/0000-0001-5208-3432 - Absent/small pubic bones - - - - - + ORCID:0000-0001-5208-3432 Absent/underdeveloped pubic bones - orcid.org/0000-0001-5208-3432 @@ -219930,6 +221286,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Absent/small pubic bones + + + + @@ -219979,8 +221342,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal maturation of the pubic bone - orcid.org/0000-0001-5208-3432 Abnormal maturation of the pubic bone + ORCID:0000-0001-5208-3432 @@ -220047,8 +221410,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Abnormal maturation of the pelvis bone - orcid.org/0000-0001-5208-3432 @@ -220103,6 +221466,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormal maturation of thigh bone head and neck + + Abnormal maturation of thigh bone head and neck + ORCID:0000-0001-5208-3432 + + + + HPO:skoehler @@ -220142,13 +221512,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Abnormal maturation of thigh bone head and neck - orcid.org/0000-0001-5208-3432 - - - - @@ -220183,15 +221546,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped head and neck of thighbone - orcid.org/0000-0001-5208-3432 - Absent/small head and neck of thighbone + Absent/underdeveloped head and neck of thighbone + ORCID:0000-0001-5208-3432 - Absent/underdeveloped head and neck of thighbone - orcid.org/0000-0001-5208-3432 + Absent/small head and neck of thighbone + ORCID:0000-0001-5208-3432 @@ -220308,7 +221671,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Weak diaphragm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Weak diaphragm @@ -220365,15 +221728,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped skeleton + ORCID:0000-0001-5208-3432 + Absent/small skeleton - Absent/small skeleton - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped skeleton + ORCID:0000-0001-5208-3432 @@ -220452,14 +221815,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdevelopment of maxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of upper jaw bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of maxilla @@ -220554,16 +221917,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormally small frontal sinus - Absence or underdevelopment of frontal sinus. - HPO:probinson + Abnormally small frontal sinus + ORCID:0000-0001-5889-4463 - + - Abnormally small frontal sinus - orcid.org/0000-0001-5889-4463 + Absence or underdevelopment of frontal sinus. + HPO:probinson - + @@ -220745,6 +222108,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormality of fat tissue + + An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. + HPO:curators + + + Abnormality of adipose tissue @@ -220758,18 +222127,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Abnormality of fat tissue + ORCID:0000-0001-5208-3432 - - An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. - HPO:curators - - - @@ -220832,14 +222195,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased fat tissue - Increased adipose tissue + Increased fat tissue + ORCID:0000-0001-5208-3432 - Increased fat tissue - orcid.org/0000-0001-5208-3432 + Increased adipose tissue @@ -220888,14 +222251,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal limb muscles - orcid.org/0000-0001-5208-3432 - Abnormal limb muscles + Muscle issues in the arms and/or legs - Muscle issues in the arms and/or legs + Abnormal limb muscles + ORCID:0000-0001-5208-3432 @@ -220938,15 +222301,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped muscles of extremities - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped muscles of extremities - orcid.org/0000-0001-5208-3432 Absent/small muscles of extremities + ORCID:0000-0001-5208-3432 @@ -221041,19 +222404,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Hand muscle degeneration - - orcid.org/0000-0001-5208-3432 - Hand muscle degeneration - - - - HPO:curators Muscular atrophy involving the muscles of the hand. + + ORCID:0000-0001-5208-3432 + Hand muscle degeneration + + + + @@ -221265,7 +222628,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fusion involving the bones of the lower limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -221346,8 +222709,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fusion involving the bones of the feet - orcid.org/0000-0001-5208-3432 Fusion involving the bones of the feet + ORCID:0000-0001-5208-3432 @@ -221497,18 +222860,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. - HPO:probinson - - - Abnormality of the cerebral arteries + + Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. + HPO:probinson + + + @@ -221560,28 +222923,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the outermost bone of little finger - Enlarged end part of the outermost bone of pinkie finger - orcid.org/0000-0001-5208-3432 + Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. + HPO:curators - - + - orcid.org/0000-0001-5208-3432 - Enlarged end part of the outermost bone of little finger + ORCID:0000-0001-5208-3432 + Enlarged end part of the outermost bone of pinky finger - Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. - HPO:curators + ORCID:0000-0001-5208-3432 + Enlarged end part of the outermost bone of little finger - + + - orcid.org/0000-0001-5208-3432 - Enlarged end part of the outermost bone of pinky finger + ORCID:0000-0001-5208-3432 + Enlarged end part of the outermost bone of pinkie finger @@ -221637,15 +223000,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the outermost bone of pinky finger - Small end part of the outermost bone of little finger - orcid.org/0000-0001-5208-3432 - - - - - - orcid.org/0000-0001-5208-3432 - Small end part of the outermost bone of pinkie finger + ORCID:0000-0001-5208-3432 + Small end part of the outermost bone of pinky finger @@ -221657,8 +223013,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Small end part of the outermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small end part of the outermost bone of pinkie finger + + + + + + ORCID:0000-0001-5208-3432 + Small end part of the outermost bone of little finger @@ -221716,8 +223079,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the outermost bone of pinky finger - orcid.org/0000-0001-5208-3432 - Triangular end part of the outermost bone of pinky finger + ORCID:0000-0001-5208-3432 + Triangular end part of the outermost bone of little finger @@ -221729,14 +223092,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Triangular end part of the outermost bone of little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Triangular end part of the outermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the outermost bone of pinkie finger @@ -221781,15 +223144,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the innermost bone pinkie finger - Abnormality of the innermost bone pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormality of the innermost bone little finger - orcid.org/0000-0001-5208-3432 - Abnormality of the innermost bone little finger + ORCID:0000-0001-5208-3432 + Abnormality of the innermost bone pinkie finger @@ -221801,8 +223164,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Abnormality of the innermost bone pinky finger + ORCID:0000-0001-5208-3432 @@ -221857,22 +223220,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of end part of pinkie finger bone - orcid.org/0000-0001-5208-3432 - Abnormality of end part of pinkie finger bone - - - - - - Abnormality of end part of little finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormality of end part of pinky finger bone - orcid.org/0000-0001-5208-3432 - Abnormality of end part of pinky finger bone + ORCID:0000-0001-5208-3432 + Abnormality of end part of pinkie finger bone @@ -221883,6 +223239,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Abnormality of end part of little finger bone + ORCID:0000-0001-5208-3432 + + + + @@ -221934,15 +223297,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of end part of the innermost bone of little finger - Abnormality of end part of the innermost bone of pinky finger - orcid.org/0000-0001-5208-3432 - - - - - - orcid.org/0000-0001-5208-3432 Abnormality of end part of the innermost bone of pinkie finger + ORCID:0000-0001-5208-3432 @@ -221954,8 +223310,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Abnormality of end part of the innermost bone of little finger + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Abnormality of end part of the innermost bone of pinky finger @@ -222013,34 +223376,34 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the innermost bone of little finger - orcid.org/0000-0001-5208-3432 - Triangular end part of the innermost bone of pinky finger + A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. + HPO:curators - - + - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the innermost bone of pinkie finger - Delta-shaped epiphysis of the proximal phalanx of the 5th finger + ORCID:0000-0001-5208-3432 + Triangular end part of the innermost bone of little finger - A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. - HPO:curators + Triangular end part of the innermost bone of pinky finger + ORCID:0000-0001-5208-3432 - + + - orcid.org/0000-0001-5208-3432 - Triangular end part of the innermost bone of little finger + Delta-shaped epiphysis of the proximal phalanx of the 5th finger @@ -222100,21 +223463,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the innermost bone of pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the innermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the innermost bone of little finger - orcid.org/0000-0001-5208-3432 @@ -222178,27 +223541,27 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the innermost bone of pinky finger - Ivory epiphysis of the proximal phalanx of the little finger + Increased bone density of end part of the innermost bone of pinkie finger + ORCID:0000-0001-5208-3432 - + - Increased bone density of end part of the innermost bone of pinkie finger - orcid.org/0000-0001-5208-3432 + Ivory epiphysis of the proximal phalanx of the little finger - + Increased bone density of end part of the innermost bone of little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the innermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -222253,27 +223616,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C4024566 human_phenotype peter - Enlarged end part of the innermost bone of pinky finger Enlarged end part of the innermost bone of pinkie finger + Enlarged end part of the innermost bone of pinky finger Enlarged end part of the innermost bone of little finger - orcid.org/0000-0001-5208-3432 - Enlarged end part of the innermost bone of pinky finger - - - - - - orcid.org/0000-0001-5208-3432 - Enlarged end part of the innermost bone of little finger + ORCID:0000-0001-5208-3432 + Enlarged end part of the innermost bone of pinkie finger - orcid.org/0000-0001-5208-3432 - Enlarged end part of the innermost bone of pinkie finger + Enlarged end part of the innermost bone of pinky finger + ORCID:0000-0001-5208-3432 @@ -222284,6 +223640,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Enlarged end part of the innermost bone of little finger + ORCID:0000-0001-5208-3432 + + + + @@ -222335,28 +223698,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the innermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. + HPO:curators + + + + + ORCID:0000-0001-5208-3432 Small end part of the innermost bone of little finger - orcid.org/0000-0001-5208-3432 Small end part of the innermost bone of pinky finger + ORCID:0000-0001-5208-3432 - Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Small end part of the innermost bone of pinkie finger + ORCID:0000-0001-5208-3432 @@ -222413,21 +223776,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the innermost bone of little finger - orcid.org/0000-0001-5208-3432 - - - - - - Absent end part of the innermost bone of pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the innermost bone of pinky finger - orcid.org/0000-0001-5208-3432 @@ -222438,6 +223794,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Absent end part of the innermost bone of pinkie finger + + + + @@ -222481,38 +223844,38 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped middle bone of little finger - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle bone of pinkie finger + ORCID:0000-0001-5208-3432 + Absent/underdeveloped middle bone of little finger - orcid.org/0000-0001-5208-3432 Absent/small middle bone of pinky finger + ORCID:0000-0001-5208-3432 - Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. - HPO:curators + ORCID:0000-0001-5208-3432 + Absent/underdeveloped middle bone of pinky finger - + + - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle bone of little finger + ORCID:0000-0001-5208-3432 + Absent/underdeveloped middle bone of pinkie finger - Absent/underdeveloped middle bone of pinky finger - orcid.org/0000-0001-5208-3432 + Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. + HPO:curators - - + @@ -222557,27 +223920,27 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent middle bone of pinky finger - Absence of the middle phalanx of the little (5th) finger. - HPO:curators + ORCID:0000-0001-5208-3432 + Absent middle bone of pinkie finger - + + - orcid.org/0000-0001-5208-3432 Absent middle bone of pinky finger + ORCID:0000-0001-5208-3432 - Absent middle bone of pinkie finger - http://orcid.org/0000-0001-5208-3432 + Absence of the middle phalanx of the little (5th) finger. + HPO:curators - - + - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent middle bone of little finger @@ -222590,10 +223953,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy obsolete Abnormal form of the 5th finger - 2008-12-22T06:17:30Z HP:0004207 HP:0009163 - peter true @@ -222645,8 +224006,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal calcification of the wrist bones + ORCID:0000-0001-5208-3432 Abnormal calcification of the wrist bones - http://orcid.org/0000-0001-5208-3432 @@ -222702,31 +224063,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of the outermost bone of little finger - Speckled calcifications in end part of the outermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of the outermost bone of little finger - http://orcid.org/0000-0001-5208-3432 - Speckled calcifications in end part of the outermost bone of little finger + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of the outermost bone of pinkie finger - HPO:curators - The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of the outermost bone of pinky finger - + + - Speckled calcifications in end part of the outermost bone of pinkie finger - http://orcid.org/0000-0001-5208-3432 + HPO:curators + The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. - - + @@ -222779,8 +224140,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of the outermost bone of little finger - http://orcid.org/0000-0001-5208-3432 - Fragmentation of end part of the outermost bone of pinkie finger + Fragmentation of end part of the outermost bone of little finger + ORCID:0000-0001-5208-3432 @@ -222792,15 +224153,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Fragmentation of end part of the outermost bone of little finger - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Fragmentation of end part of the outermost bone of pinkie finger Fragmentation of end part of the outermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -222857,27 +224218,27 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the outermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - HPO:curators - Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the outermost bone of pinkie finger + HPO:curators + Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. + + + + + ORCID:0000-0001-5208-3432 Irregular end part of the outermost bone of little finger - http://orcid.org/0000-0001-5208-3432 @@ -222923,7 +224284,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped middle little finger bone - http://orcid.org/0000-0001-5208-3432 + Bullet-shaped middle little finger bone + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 Bullet-shaped middle pinky finger bone @@ -222936,15 +224304,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Bullet-shaped middle pinkie finger bone - http://orcid.org/0000-0001-5208-3432 - - - - - - Bullet-shaped middle little finger bone - http://orcid.org/0000-0001-5208-3432 @@ -222991,21 +224352,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad middle bone of pinky finger + ORCID:0000-0001-5208-3432 Broad middle bone of pinkie finger - http://orcid.org/0000-0001-5208-3432 - - - - - - Broad middle bone of pinky finger - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad middle bone of little finger @@ -223017,6 +224371,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Broad middle bone of pinky finger + ORCID:0000-0001-5208-3432 + + + + @@ -223098,8 +224459,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the long bone of hand - orcid.org/0000-0001-5889-4463 Triangular end part of the long bone of hand + ORCID:0000-0001-5889-4463 @@ -223203,14 +224564,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved middle bone of pinky finger - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Curved middle bone of little finger + Curved middle bone of pinkie finger + ORCID:0000-0001-5889-4463 @@ -223222,8 +224583,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Curved middle bone of pinkie finger - orcid.org/0000-0001-5889-4463 + Curved middle bone of little finger + ORCID:0000-0001-5889-4463 @@ -223276,18 +224637,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the ring finger - Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. - HPO:curators - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of the end part of the ring finger + + Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. + HPO:curators + + + @@ -223344,22 +224705,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the middle bone of the pinky finger - Uneven increase in bone density in the middle bone of the pinky finger - orcid.org/0000-0001-5208-3432 + Uneven increase in bone density in the middle bone of the little finger + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in the middle bone of the pinkie finger + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the middle bone of the pinky finger - Uneven increase in bone density in the middle bone of the little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the middle bone of the pinkie finger @@ -223428,22 +224789,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 - Fused innermost and middle bones of pinkie finger + ORCID:0000-0001-5208-3432 + Fused innermost and middle bones of little finger - http://orcid.org/0000-0001-5208-3432 - Fused innermost and middle bones of little finger + ORCID:0000-0001-5208-3432 + Fused innermost and middle bones of pinkie finger - http://orcid.org/0000-0001-5208-3432 Fused innermost and middle bones of pinky finger + ORCID:0000-0001-5208-3432 @@ -223493,28 +224854,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused middle bones of pinky finger - Fusion of the middle phalanx of the 5th finger with another bone. - HPO:curator - - - - - http://orcid.org/0000-0001-5208-3432 Fused middle bones of little finger + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused middle bones of pinkie finger - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + Fusion of the middle phalanx of the 5th finger with another bone. + HPO:curator + + + + Fused middle bones of pinky finger + ORCID:0000-0001-5208-3432 @@ -223560,16 +224921,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Displaced pinky finger Displaced little finger + + ORCID:0000-0001-5208-3432 + Displaced pinky finger + + + + Displaced pinkie finger - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 - Displaced pinky finger + Displaced little finger + ORCID:0000-0001-5208-3432 @@ -223580,13 +224948,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Displaced little finger - http://orcid.org/0000-0001-5208-3432 - - - - @@ -223670,31 +225031,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped middle pinky finger bone - Triangular shaped middle pinky finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Triangular shaped middle pinkie finger bone - Triangular shaped middle pinkie finger bone - http://orcid.org/0000-0001-5208-3432 + HPO:curators + Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. - - + - http://orcid.org/0000-0001-5208-3432 - Triangular shaped middle little finger bone + ORCID:0000-0001-5208-3432 + Triangular shaped middle pinky finger bone - HPO:curators - Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + ORCID:0000-0001-5208-3432 + Triangular shaped middle little finger bone - + + @@ -223949,32 +225310,32 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the outermost little finger bone - HPO:curators - The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. - - - - - Bracket shaped end part of the outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + Bracket shaped end part of the outermost little finger bone + ORCID:0000-0001-5208-3432 Bracket shaped end part of the outermost pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - Bracket shaped end part of the outermost little finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Bracket shaped end part of the outermost pinkie finger bone + + HPO:curators + The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. + + + @@ -224062,7 +225423,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of end part of the long bone of hand @@ -224112,7 +225473,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the long bone of hand @@ -224156,19 +225517,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Increased bone density of end part of the long bone of hands - - Increased bone density of end part of the long bone of hands - orcid.org/0000-0001-5208-3432 - - - - HPO:curators Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the long bone of hands + + + + @@ -224204,21 +225565,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C4024544 doelkens human_phenotype - Absent/small innermost little finger bone Absent/small innermost pinkie finger bone + Absent/small innermost little finger bone Absent/underdeveloped innermost pinky finger bone Absent/small innermost pinky finger bone - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped innermost pinky finger bone + Absent/small innermost pinkie finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent/small innermost little finger bone + ORCID:0000-0001-5208-3432 @@ -224230,15 +225591,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent/small innermost pinky finger bone - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped innermost pinky finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/small innermost pinkie finger bone + ORCID:0000-0001-5208-3432 + Absent/small innermost pinky finger bone @@ -224346,19 +225707,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Small end part of the long bone of hand - - Small end part of the long bone of hand - orcid.org/0000-0001-5208-3432 - - - - Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. HPO:curators + + ORCID:0000-0001-5208-3432 + Small end part of the long bone of hand + + + + @@ -224399,7 +225760,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of the long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in end part of the long bone of hand @@ -224458,7 +225819,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -224507,13 +225868,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the innermost bone of the pinky finger Bracket shaped end part of the innermost bone of the pinkie finger - - Bracket shaped end part of the innermost bone of the little finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. @@ -224521,14 +225875,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the pinky finger + ORCID:0000-0001-5208-3432 + + + + + + Bracket shaped end part of the innermost bone of the little finger + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the pinkie finger @@ -224587,8 +225948,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of end part of the innermost bone of the pinky finger + ORCID:0000-0001-5208-3432 + Abnormality of end part of the innermost bone of the pinkie finger + + + + + + ORCID:0000-0001-5208-3432 Abnormality of end part of the innermost bone of the pinky finger - orcid.org/0000-0001-5208-3432 @@ -224601,14 +225969,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of end part of the innermost bone of the little finger - orcid.org/0000-0001-5208-3432 - - - - - - orcid.org/0000-0001-5208-3432 - Abnormality of end part of the innermost bone of the pinkie finger + ORCID:0000-0001-5208-3432 @@ -224664,31 +226025,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the innermost pinkie finger bone - Irregular end part of the innermost pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Irregular end part of the innermost pinkie finger bone - orcid.org/0000-0001-5208-3432 Irregular end part of the innermost little finger bone + ORCID:0000-0001-5208-3432 - HPO:curators - Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. + Irregular end part of the innermost pinky finger bone + ORCID:0000-0001-5208-3432 - + + - orcid.org/0000-0001-5208-3432 - Irregular end part of the innermost pinkie finger bone + HPO:curators + Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. - - + @@ -224784,28 +226145,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of the innnermost bone of the pinkie finger - orcid.org/0000-0001-5208-3432 - Speckled calcifications in end part of the innnermost bone of the little finger + Speckled calcifications in end part of the innnermost bone of the pinkie finger + ORCID:0000-0001-5208-3432 - HPO:curators - The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. - - - - - orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the innnermost bone of the pinky finger + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Speckled calcifications in end part of the innnermost bone of the pinkie finger + HPO:curators + The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. + + + + + Speckled calcifications in end part of the innnermost bone of the little finger + ORCID:0000-0001-5208-3432 @@ -224861,22 +226222,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of the innermost bone of the little finger - orcid.org/0000-0001-5208-3432 - Fragmentation of end part of the innermost bone of the pinky finger + Fragmentation of end part of the innermost bone of the little finger + ORCID:0000-0001-5208-3432 - Fragmentation of end part of the innermost bone of the little finger - orcid.org/0000-0001-5208-3432 + Fragmentation of end part of the innermost bone of the pinky finger + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Fragmentation of end part of the innermost bone of the pinkie finger + ORCID:0000-0001-5208-3432 @@ -224938,15 +226299,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 - Absent end part of the middle bone of the pinky finger + Absent end part of the middle bone of the little finger + ORCID:0000-0001-5208-3432 - Absent end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent end part of the middle bone of the pinkie finger @@ -224958,8 +226319,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Absent end part of the middle bone of the pinkie finger + ORCID:0000-0001-5208-3432 + Absent end part of the middle bone of the pinky finger @@ -225016,19 +226377,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - HPO:curators - The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the middle bone of the pinky finger @@ -225036,11 +226391,17 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the middle bone of the pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:curators + The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. + + + @@ -225092,28 +226453,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the middle bone of the pinkie finger - Cone-shaped end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 + A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. + HPO:curators - - + - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the middle bone of the pinkie finger + ORCID:0000-0001-5208-3432 + Cone-shaped end part of the middle bone of the pinky finger - A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. - HPO:curators + Cone-shaped end part of the middle bone of the pinkie finger + ORCID:0000-0001-5208-3432 - + + - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the middle bone of the pinky finger + Cone-shaped end part of the middle bone of the little finger + ORCID:0000-0001-5208-3432 @@ -225169,28 +226530,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the middle bone of the pinkie finger - Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the middle bone of the pinky finger - orcid.org/0000-0001-5208-3432 + Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. + HPO:curators + + + + Enlarged end part of the middle bone of the pinkie finger + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Enlarged end part of the middle bone of the little finger + ORCID:0000-0001-5208-3432 @@ -225246,28 +226607,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of the middle bone of the pinky finger - orcid.org/0000-0001-5208-3432 - Fragmentation of end part of the middle bone of the pinky finger + ORCID:0000-0001-5208-3432 + Fragmentation of end part of the middle bone of the pinkie finger - Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Fragmentation of end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Fragmentation of end part of the middle bone of the pinkie finger + Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. + HPO:curators + + + + + Fragmentation of end part of the middle bone of the pinky finger + ORCID:0000-0001-5208-3432 @@ -225324,31 +226685,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - HPO:curators - Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. - - - - + ORCID:0000-0001-5208-3432 Irregular end part of the middle bone of the pinkie finger - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the middle bone of the pinky finger + + HPO:curators + Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. + + + @@ -225400,22 +226761,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the middle bone of little finger - Increased bone density of end part of the middle bone of pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the middle bone of pinky finger - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of little finger - - - - - - orcid.org/0000-0001-5208-3432 - Increased bone density of end part of the middle bone of pinky finger + ORCID:0000-0001-5208-3432 @@ -225426,6 +226780,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the middle bone of pinkie finger + + + + @@ -225520,15 +226881,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the middle bone of the pinkie finger - Small end part of the middle bone of the pinky finger - orcid.org/0000-0001-5208-3432 - - - - - - Small end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 + Small end part of the middle bone of the pinkie finger + ORCID:0000-0001-5208-3432 @@ -225540,8 +226894,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Small end part of the middle bone of the pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small end part of the middle bone of the little finger + + + + + + Small end part of the middle bone of the pinky finger + ORCID:0000-0001-5208-3432 @@ -225597,14 +226958,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of the middle bone of the pinky finger - orcid.org/0000-0001-5208-3432 - Speckled calcifications in end part of the middle bone of the pinkie finger - - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in end part of the middle bone of the little finger @@ -225617,8 +226971,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of the middle bone of the pinkie finger + + + + + Speckled calcifications in end part of the middle bone of the pinky finger + ORCID:0000-0001-5208-3432 @@ -225675,21 +227036,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 - Triangular end part of the middle bone of the pinkie finger + ORCID:0000-0001-5208-3432 + Triangular end part of the middle bone of the little finger - orcid.org/0000-0001-5208-3432 - Triangular end part of the middle bone of the little finger + ORCID:0000-0001-5208-3432 + Triangular end part of the middle bone of the pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the middle bone of the pinky finger @@ -225749,19 +227110,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent end part of the middle bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Absent end part of the middle bone of the ring finger - - - - Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. HPO:curators + + Absent end part of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -225811,18 +227172,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the middle bone of the ring finger - HPO:curators - The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. - - - - - orcid.org/0000-0001-5208-3432 Bracket shaped end part of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 + + HPO:curators + The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. + + + @@ -225872,8 +227233,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 Cone-shaped end part of the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 @@ -225933,18 +227294,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the middle bone of the ring finger - Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Enlarged end part of the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 + + Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. + HPO:curators + + + @@ -225993,19 +227354,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fragmentation of end part of the middle bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Fragmentation of end part of the middle bone of the ring finger - - - - Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. HPO:curators + + Fragmentation of end part of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -226055,18 +227416,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the middle bone of the ring finger - HPO:curators - Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. - - - - + ORCID:0000-0001-5208-3432 Irregular end part of the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 + + HPO:curators + Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. + + + @@ -226115,19 +227476,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Increased bone density of end part of the middle ring finger bone - - Increased bone density of end part of the middle ring finger bone - orcid.org/0000-0001-5208-3432 - - - - HPO:curators Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + Increased bone density of end part of the middle ring finger bone + ORCID:0000-0001-5208-3432 + + + + @@ -226219,19 +227580,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Small end part of the middle bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Small end part of the middle bone of the ring finger - - - - Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. HPO:curators + + Small end part of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -226280,19 +227641,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Speckled calcifications in end part of the middle bone of the ring finger - - Speckled calcifications in end part of the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger. + + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of the middle bone of the ring finger + + + + @@ -226342,19 +227703,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular end part of the middle bone of the ring finger - - Triangular end part of the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 - - - - A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HPO:curators + + ORCID:0000-0001-5208-3432 + Triangular end part of the middle bone of the ring finger + + + + @@ -226396,15 +227757,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent innermost bone of little finger + ORCID:0000-0001-5208-3432 Absent innermost bone of little finger - http://orcid.org/0000-0001-5208-3432 - - - - - - http://orcid.org/0000-0001-5208-3432 - Absent innermost bone of pinky finger @@ -226415,9 +227769,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Absent innermost bone of pinky finger + + + + Absent innermost bone of pinkie finger - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -226464,6 +227825,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short innermost pinky finger bone Short innermost little finger bone + + Short proximal phalanx of the fifth finger + + + + Absence or underdevelopment (hypoplasia) of the proximal phalanx of the fifth finger. HPO:sdoelken @@ -226471,27 +227838,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Short innermost pinky finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Short innermost little finger bone - - Short innermost pinkie finger bone - http://orcid.org/0000-0001-5208-3432 + Short innermost pinky finger bone + ORCID:0000-0001-5208-3432 - Short innermost little finger bone - http://orcid.org/0000-0001-5208-3432 - - - - - Short proximal phalanx of the fifth finger + Short innermost pinkie finger bone + ORCID:0000-0001-5208-3432 @@ -226538,31 +227899,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad innermost pinky finger bone - HPO:curators - Increased width of the proximal phalanx of the 5th finger. + ORCID:0000-0001-5208-3432 + Broad innermost pinkie finger bone - + + Broad innermost pinky finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 - Broad innermost pinkie finger bone + Broad innermost little finger bone + ORCID:0000-0001-5208-3432 - Broad innermost little finger bone - http://orcid.org/0000-0001-5208-3432 + HPO:curators + Increased width of the proximal phalanx of the 5th finger. - - + @@ -226604,6 +227965,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped innermost pinkie finger bone Bullet-shaped innermost pinky finger bone + + Bullet-shaped innermost pinky finger bone + ORCID:0000-0001-5208-3432 + + + + Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected. HPO:curators @@ -226611,22 +227979,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped innermost little finger bone - - Bullet-shaped innermost pinky finger bone - http://orcid.org/0000-0001-5208-3432 - - - - Bullet-shaped innermost pinkie finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -226671,13 +228032,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved innermost bone of pinkie finger Curved innermost bone of little finger - - http://orcid.org/0000-0001-5208-3432 - Curved innermost bone of pinky finger - - - - Curved appearance of the proximal phalanx of the 5th finger. HPO:curators @@ -226685,15 +228039,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Curved innermost bone of pinkie finger - http://orcid.org/0000-0001-5208-3432 + Curved innermost bone of pinky finger + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 Curved innermost bone of little finger + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Curved innermost bone of pinkie finger @@ -226797,28 +228158,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the innermost bone of pinkie finger - HPO:curators - Patchy increase in bone density of the proximal phalanx of the 5th finger. + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the innermost bone of pinkie finger - + + - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in the innermost bone of little finger + HPO:curators + Patchy increase in bone density of the proximal phalanx of the 5th finger. - - + - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of pinky finger - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in the innermost bone of pinkie finger + Uneven increase in bone density in the innermost bone of little finger + ORCID:0000-0001-5208-3432 @@ -226874,22 +228235,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Fused innermost bone of little finger + ORCID:0000-0001-5208-3432 - Fused innermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + Fused innermost bone of pinkie finger + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Fused innermost bone of pinkie finger + Fused innermost bone of pinky finger + ORCID:0000-0001-5208-3432 @@ -226935,8 +228296,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped innermost pinkie finger bone - http://orcid.org/0000-0001-5208-3432 Triangular shaped innermost pinky finger bone + ORCID:0000-0001-5208-3432 @@ -226948,15 +228309,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 Triangular shaped innermost little finger bone + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 Triangular shaped innermost pinkie finger bone + ORCID:0000-0001-5208-3432 @@ -227006,15 +228367,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost bone of little finger with 5th long bone of hand - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused innermost bone of pinky finger with 5th long bone of hand + ORCID:0000-0001-5208-3432 + Fused innermost bone of pinkie finger with 5th long bone of hand + + + + + + ORCID:0000-0001-5208-3432 Fused innermost bone of little finger with 5th long bone of hand - http://orcid.org/0000-0001-5208-3432 @@ -227025,13 +228393,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Fused innermost bone of pinkie finger with 5th long bone of hand - http://orcid.org/0000-0001-5208-3432 - - - - @@ -227057,22 +228418,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 - Rhomboid or triangular shaped innermost bone of pinky finger + ORCID:0000-0001-5208-3432 + Rhomboid or triangular shaped innermost bone of pinkie finger - http://orcid.org/0000-0001-5208-3432 Rhomboid or triangular shaped innermost bone of little finger + ORCID:0000-0001-5208-3432 - Rhomboid or triangular shaped innermost bone of pinkie finger - http://orcid.org/0000-0001-5208-3432 + Rhomboid or triangular shaped innermost bone of pinky finger + ORCID:0000-0001-5208-3432 @@ -227133,45 +228494,45 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short pinky finger - Short little finger + Short fifth fingers - HPO:sdoelken - Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. + Short fifth finger - + + - Short fifth fingers + Short 5th finger - http://orcid.org/0000-0001-5208-3432 - Short pinkie finger + Short little finger - Short 5th finger + ORCID:0000-0001-5208-3432 + Short pinkie finger - http://orcid.org/0000-0001-5208-3432 - Short pinky finger + HPO:sdoelken + Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. - - + - Short fifth finger + Short pinky finger + ORCID:0000-0001-5208-3432 @@ -227216,31 +228577,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent pinkie finger - Absent pinkie finger - orcid.org/0000-0001-5208-3432 + Absent 5th (little) finger. + HPO:curators - - + - Absent little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent pinkie finger - orcid.org/0000-0001-5208-3432 Absent pinky finger + ORCID:0000-0001-5208-3432 - Absent 5th (little) finger. - HPO:curators + Absent little finger + ORCID:0000-0001-5208-3432 - + + @@ -227282,29 +228643,29 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small outermost bone of pinky finger - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped outermost bone of pinky finger - http://orcid.org/0000-0001-5208-3432 - Absent/small outermost bone of little finger + ORCID:0000-0001-5208-3432 + Absent/small outermost bone of pinkie finger + ORCID:0000-0001-5208-3432 Absent/small outermost bone of pinky finger - http://orcid.org/0000-0001-5208-3432 - Absent/small outermost bone of pinkie finger - http://orcid.org/0000-0001-5208-3432 + Absent/small outermost bone of little finger + ORCID:0000-0001-5208-3432 @@ -227351,15 +228712,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad outermost little finger bone - orcid.org/0000-0001-5208-3432 - Broad outermost pinky finger bone - - - - - - orcid.org/0000-0001-5208-3432 - Wide outermost pinky finger bone + Broad outermost pinkie finger bone + ORCID:0000-0001-5208-3432 @@ -227371,14 +228725,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Broad outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Broad outermost pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Wide outermost pinky finger bone + + + + + + ORCID:0000-0001-5208-3432 Broad outermost little finger bone @@ -227425,15 +228786,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped outermost little finger bone + Bullet-shaped outermost pinky finger bone + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 Bullet-shaped outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 - Bullet-shaped outermost pinky finger bone - orcid.org/0000-0001-5208-3432 + Bullet-shaped outermost little finger bone + ORCID:0000-0001-5208-3432 @@ -227444,13 +228812,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Bullet-shaped outermost little finger bone - orcid.org/0000-0001-5208-3432 - - - - @@ -227556,22 +228917,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the outermost bone of little finger - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in the outermost bone of pinkie finger + Uneven increase in bone density in the outermost bone of pinky finger + ORCID:0000-0001-5208-3432 - Uneven increase in bone density in the outermost bone of pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the outermost bone of pinkie finger @@ -227628,37 +228989,37 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused end and middle bones of little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused end and middle bones of pinky finger - Fusion of the terminal/distal and middle phalanges of the 5th finger. - HPO:curators + Fused end and middle bones of pinkie finger + ORCID:0000-0001-5208-3432 - + + Fused end and middle bones of little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - Fusion of the terminal and middle phalanges of the 5th finger + Fusion of the terminal/distal and middle phalanges of the 5th finger. + HPO:curators - - + - orcid.org/0000-0001-5208-3432 - Fused end and middle bones of pinkie finger + Fusion of the terminal and middle phalanges of the 5th finger - + @@ -227701,31 +229062,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped outermost little finger bone - Triangular shaped outermost little finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Triangular shaped outermost pinky finger bone - orcid.org/0000-0001-5208-3432 Triangular shaped outermost pinkie finger bone + ORCID:0000-0001-5208-3432 - HPO:curators - Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + ORCID:0000-0001-5208-3432 + Triangular shaped outermost little finger bone - + + - orcid.org/0000-0001-5208-3432 - Triangular shaped outermost pinky finger bone + HPO:curators + Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. - - + @@ -227768,32 +229129,32 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent outermost little finger bone - Absence of the distal phalanx of the little (5th) finger. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Absent outermost pinky finger bone - orcid.org/0000-0001-5208-3432 Absent outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absence of the distal phalanx of the little (5th) finger. + HPO:curators + + + @@ -227842,8 +229203,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 Abnormality of the end part of the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 @@ -227896,8 +229257,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the innermost bone of the ring finger - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the ring finger + ORCID:0000-0001-5208-3432 @@ -227950,8 +229311,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the outermost bone of the ring finger + ORCID:0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the ring finger - orcid.org/0000-0001-5208-3432 @@ -228011,8 +229372,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Absent end part of the outermost bone of the ring finger + ORCID:0000-0001-5208-3432 @@ -228060,18 +229421,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the outermost bone of the ring finger - HPO:curators - The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the outermost bone of the ring finger + + HPO:curators + The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. + + + @@ -228120,19 +229481,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of the outermost bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the outermost bone of the ring finger - - - - A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HPO:curators + + ORCID:0000-0001-5208-3432 + Cone-shaped end part of the outermost bone of the ring finger + + + + @@ -228181,19 +229542,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of the outermost bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Enlarged end part of the outermost bone of the ring finger - - - - Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. HPO:curators + + ORCID:0000-0001-5208-3432 + Enlarged end part of the outermost bone of the ring finger + + + + @@ -228243,18 +229604,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of the outermost bone of the ring finger - Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Fragmentation of end part of the outermost bone of the ring finger + ORCID:0000-0001-5208-3432 + + Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. + HPO:curators + + + @@ -228303,19 +229664,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Irregular end part of the outermost bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Irregular end part of the outermost bone of the ring finger - - - - HPO:curators Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. + + ORCID:0000-0001-5208-3432 + Irregular end part of the outermost bone of the ring finger + + + + @@ -228364,19 +229725,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Increased bone density of end part of the outermost ring finger bone - - orcid.org/0000-0001-5208-3432 - Increased bone density of end part of the outermost ring finger bone - - - - HPO:curators Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + Increased bone density of end part of the outermost ring finger bone + ORCID:0000-0001-5208-3432 + + + + @@ -228475,7 +229836,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the outermost bone of the ring finger @@ -228529,19 +229890,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Speckled calcifications in the end part of the outermost bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Speckled calcifications in the end part of the outermost bone of the ring finger - - - - HPO:curators The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger. + + Speckled calcifications in the end part of the outermost bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -228593,7 +229954,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the outermost bone of ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -228659,7 +230020,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the innermost bone of the ring finger @@ -228710,7 +230071,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the innermost bone of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the ring finger @@ -228770,19 +230131,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of the innermost bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the innermost bone of the ring finger - - - - A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HPO:curators + + Cone-shaped end part of the innermost bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -228831,19 +230192,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of the innermost bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Enlarged end part of the innermost bone of the ring finger - - - - Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. HPO:curators + + ORCID:0000-0001-5208-3432 + Enlarged end part of the innermost bone of the ring finger + + + + @@ -228899,8 +230260,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Fragmentation of end part of the innermost bone of the ring finger - orcid.org/0000-0001-5208-3432 @@ -228953,19 +230314,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Irregular end part of the innermost bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Irregular end part of the innermost bone of the ring finger - - - - HPO:curators Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. + + Irregular end part of the innermost bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -229009,18 +230370,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the innermost ring finger bone - HPO:curators - Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. - - - - + ORCID:0000-0001-5208-3432 Increased bone density of end part of the innermost ring finger bone - orcid.org/0000-0001-5208-3432 + + HPO:curators + Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + + @@ -229120,7 +230481,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the innermost bone of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -229173,19 +230534,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Speckled calcifications in end part of the innermost bone of ring finger - - orcid.org/0000-0001-5208-3432 - Speckled calcifications in end part of the innermost bone of ring finger - - - - HPO:curators The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger. + + Speckled calcifications in end part of the innermost bone of ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -229236,18 +230597,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the innermost bone of ring finger - A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Triangular end part of the innermost bone of ring finger - orcid.org/0000-0001-5208-3432 + + A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. + HPO:curators + + + @@ -229287,24 +230648,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped ring finger bone - orcid.org/0000-0001-5208-3432 - Absent/small ring finger bone + A small/hypoplastic or absent/aplastic 4th (ring) finger. + HPO:curators - - + - http://orcid.org/0000-0001-5208-3432 Absent/underdeveloped ring finger bone + ORCID:0000-0001-5208-3432 - A small/hypoplastic or absent/aplastic 4th (ring) finger. - HPO:curators + ORCID:0000-0001-5208-3432 + Absent/small ring finger bone - + + @@ -229351,7 +230712,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Deviation of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -229586,18 +230947,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Ulnar deviation of the ring finger - - Ulnar deviation of the ring finger - orcid.org/0000-0001-5208-3432 - - - Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger). HPO:sdoelken + + ORCID:0000-0001-5208-3432 + Ulnar deviation of the ring finger + + + @@ -229615,18 +230976,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Radial deviation of the ring finger - - Radial deviation of the ring finger - orcid.org/0000-0001-5208-3432 - - - Displacement of the 4th finger towards the radial side (i.e., towards the thumb). HPO:sdoelken + + ORCID:0000-0001-5208-3432 + Radial deviation of the ring finger + + + @@ -229717,8 +231078,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent ring finger - orcid.org/0000-0001-5208-3432 Absent ring finger + ORCID:0000-0001-5208-3432 @@ -229765,7 +231126,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of ring finger @@ -229815,8 +231176,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Abnormal middle bone of ring finger + ORCID:0000-0001-5208-3432 @@ -229865,8 +231226,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Abnormal innermost bone of ring finger - orcid.org/0000-0001-5208-3432 @@ -229916,8 +231277,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Curved ring finger bone - orcid.org/0000-0001-5208-3432 @@ -229961,7 +231322,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved outermost ring finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved outermost ring finger bone @@ -230018,8 +231379,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 Curved middle ring finger bone + ORCID:0000-0001-5208-3432 @@ -230063,7 +231424,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved innermost ring finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -230106,15 +231467,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped outermost ring finger bone - Absent/underdeveloped outermost ring finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small outermost ring finger bone - Absent/small outermost ring finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped outermost ring finger bone @@ -230160,8 +231521,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short outermost bone of ring finger - orcid.org/0000-0001-5208-3432 Short outermost bone of ring finger + ORCID:0000-0001-5208-3432 @@ -230217,8 +231578,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Absent outermost bone of ring finger - orcid.org/0000-0001-5208-3432 @@ -230263,8 +231624,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad outermost bone of ring finger - orcid.org/0000-0001-5208-3432 Wide outermost bone of ring finger + ORCID:0000-0001-5208-3432 @@ -230276,7 +231637,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad outermost bone of ring finger @@ -230321,18 +231682,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad middle bone of the 4th finger - HPO:curators - Increased width of the middle phalanx of the 4th finger. - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad middle bone of the 4th finger + + HPO:curators + Increased width of the middle phalanx of the 4th finger. + + + @@ -230372,19 +231733,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent middle bone of 4th finger - - Absent middle bone of 4th finger - http://orcid.org/0000-0001-5208-3432 - - - - Absence of the middle phalanx of the ring (4th) finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Absent middle bone of 4th finger + + + + @@ -230429,18 +231790,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short middle bone of 4th finger - HPO:sdoelken - Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. - - - - + ORCID:0000-0001-5208-3432 Short middle bone of 4th finger - http://orcid.org/0000-0001-5208-3432 + + HPO:sdoelken + Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. + + + @@ -230479,19 +231840,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped middle bone of the 4th finger - - http://orcid.org/0000-0001-5208-3432 - Bullet-shaped middle bone of the 4th finger - - - - Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected. HPO:curators + + Bullet-shaped middle bone of the 4th finger + ORCID:0000-0001-5208-3432 + + + + @@ -230573,19 +231934,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent innermost ring finger bone - - http://orcid.org/0000-0001-5208-3432 - Absent innermost ring finger bone - - - - Absence of the proximal phalanx of the ring (4th) finger. HPO:curators + + Absent innermost ring finger bone + ORCID:0000-0001-5208-3432 + + + + @@ -230624,15 +231985,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped middle ring finger bone - http://orcid.org/0000-0001-5208-3432 - Absent/small middle ring finger bone + Absent/underdeveloped middle ring finger bone + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle ring finger bone + Absent/small middle ring finger bone + ORCID:0000-0001-5208-3432 @@ -230675,15 +232036,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped innermost ring finger bone + ORCID:0000-0001-5208-3432 Absent/underdeveloped innermost ring finger bone - http://orcid.org/0000-0001-5208-3432 Absent/small innermost ring finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -230728,19 +232089,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Short innermost bone of the ring finger - - Short innermost bone of the ring finger - orcid.org/0000-0001-6908-9849 - - - - HPO:sdoelken Hypoplastic/small proximal phalanx of the fourth finger. + + Short innermost bone of the ring finger + ORCID:0000-0001-6908-9849 + + + + @@ -230780,18 +232141,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped outermost bone of ring finger - Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Bullet-shaped outermost bone of ring finger - orcid.org/0000-0001-5208-3432 + + Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. + HPO:curators + + + @@ -230888,19 +232249,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in the outermost bone of the ring finger - - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in the outermost bone of the ring finger - - - - HPO:probinson Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. + + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the outermost bone of the ring finger + + + + @@ -230946,19 +232307,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused outermost and middle bones of ring finger - - orcid.org/0000-0001-5208-3432 - Fused outermost and middle bones of ring finger - - - - Fusion of the terminal/distal and middle phalanges of the 4th finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Fused outermost and middle bones of ring finger + + + + @@ -230997,19 +232358,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped outermost bone of the ring finger - - Triangular shaped outermost bone of the ring finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + Triangular shaped outermost bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -231063,19 +232424,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in the middle bone of the ring finger - - Uneven increase in bone density in the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. + + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the middle bone of the ring finger + + + + @@ -231118,19 +232479,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused middle bone of ring finger - - orcid.org/0000-0001-5208-3432 - Fused middle bone of ring finger - - - - Fusion of the middle phalanx of the 4th finger with another bone. HPO:sdoelken + + ORCID:0000-0001-5208-3432 + Fused middle bone of ring finger + + + + @@ -231169,19 +232530,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped middle bone of the ring finger - - Triangular shaped middle bone of the ring finger - orcid.org/0000-0001-6908-9849 - - - - HPO:curators Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + ORCID:0000-0001-6908-9849 + Triangular shaped middle bone of the ring finger + + + + @@ -231220,19 +232581,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Broad innermost ring finger bone - - Broad innermost ring finger bone - http://orcid.org/0000-0001-5208-3432 - - - - HPO:curators Increased width of the proximal phalanx of the 4th finger. + + Broad innermost ring finger bone + ORCID:0000-0001-5208-3432 + + + + @@ -231278,8 +232639,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Bullet-shaped innermost ring finger bone - http://orcid.org/0000-0001-5208-3432 @@ -231381,18 +232742,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the innermost bone of the ring finger - HPO:probinson - Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of the ring finger + + HPO:probinson + Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. + + + @@ -231436,18 +232797,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost bone of ring finger - Fusion of the proximal phalanx of the 4th finger with another bone. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused innermost bone of ring finger + + Fusion of the proximal phalanx of the 4th finger with another bone. + HPO:curators + + + @@ -231489,14 +232850,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped innermost bone of the 4th finger - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Triangular shaped innermost bone of the ring finger - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -231547,19 +232908,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Abnormality of the middle finger bones - - Abnormality of the middle finger bones - orcid.org/0000-0001-6908-9849 - - - - Abnormality of the phalanges of the 3rd (middle) finger. HPO:curators + + ORCID:0000-0001-6908-9849 + Abnormality of the middle finger bones + + + + @@ -231598,18 +232959,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy doelkens human_phenotype - - Displacement of the 3rd finger from its normal position. - HPO:curators - - - Deviated middle finger + + Displacement of the 3rd finger from its normal position. + HPO:curators + + + @@ -231649,24 +233010,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small middle finger - A small/hypoplastic or absent/aplastic 3rd (middle) finger. - HPO:curators + ORCID:0000-0001-5208-3432 + Absent/underdeveloped middle finger - + + - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small middle finger - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle finger + A small/hypoplastic or absent/aplastic 3rd (middle) finger. + HPO:curators - - + @@ -231769,19 +233130,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Abnormality of end part of the middle bone of the middle finger - - Abnormality of end part of the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 - - - - Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. HPO:curators + + Abnormality of end part of the middle bone of the middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -231830,19 +233191,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent end part of the middle bone of the middle finger - - Absent end part of the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 - - - - Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Absent end part of the middle bone of the middle finger + + + + @@ -231893,7 +233254,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -231952,19 +233313,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of the middle bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the middle bone of the middle finger - - - - A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HPO:curators + + ORCID:0000-0001-5208-3432 + Cone-shaped end part of the middle bone of the middle finger + + + + @@ -232014,7 +233375,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the middle bone of the middle finger @@ -232081,7 +233442,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of end part of the middle bone of the middle finger @@ -232136,8 +233497,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -232203,8 +233564,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -232309,7 +233670,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the middle bone of the middle finger @@ -232364,18 +233725,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of the middle bone of the middle finger - HPO:curators - The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. - - - - + ORCID:0000-0001-5208-3432 Speckled calcifications in end part of the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 + + HPO:curators + The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. + + + @@ -232427,7 +233788,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -232486,7 +233847,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the middle finger @@ -232540,8 +233901,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the innermost bone of the middle finger + ORCID:0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the middle finger - orcid.org/0000-0001-5208-3432 @@ -232594,8 +233955,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the middle bone of the middle finger + ORCID:0000-0001-5208-3432 Abnormality of the end part of the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 @@ -232649,8 +234010,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 Absent end part of the outermost bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -232710,8 +234071,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the outermost bone of the middle finger + ORCID:0000-0001-5208-3432 Bracket shaped end part of the outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 @@ -232770,19 +234131,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of the outermost bone of the middle finger - - Cone-shaped end part of the outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 - - - - A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HPO:curators + + Cone-shaped end part of the outermost bone of the middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -232831,19 +234192,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of the outermost bone of the 3rd finger - - Enlarged end part of the outermost bone of the 3rd finger - orcid.org/0000-0001-5208-3432 - - - - Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. HPO:curators + + ORCID:0000-0001-5208-3432 + Enlarged end part of the outermost bone of the 3rd finger + + + + @@ -232892,19 +234253,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fragmentation of end part of the outermost bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Fragmentation of end part of the outermost bone of the middle finger - - - - Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Fragmentation of end part of the outermost bone of the middle finger + + + + @@ -232954,18 +234315,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the outermost long bone of the middle finger - HPO:curators - Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. - - - - + ORCID:0000-0001-5208-3432 Irregular end part of the outermost long bone of the middle finger - orcid.org/0000-0001-5208-3432 + + HPO:curators + Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. + + + @@ -233015,18 +234376,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the outermost middle finger bone - HPO:curators - Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. - - - - + ORCID:0000-0001-5208-3432 Increased bone density of end part of the outermost middle finger bone - orcid.org/0000-0001-5208-3432 + + HPO:curators + Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + + @@ -233066,8 +234427,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Pseudoepiphysis of the outermost bone of the middle finger + ORCID:0000-0001-5208-3432 Pseudoepiphysis of the outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 @@ -233125,19 +234486,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Small end part of the outermost long bone of the middle finger - - Small end part of the outermost long bone of the middle finger - orcid.org/0000-0001-5208-3432 - - - - Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. HPO:curators + + ORCID:0000-0001-5208-3432 + Small end part of the outermost long bone of the middle finger + + + + @@ -233187,8 +234548,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of the outermost long bone of the middle finger - orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the outermost long bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -233249,8 +234610,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the outermost long bone of the middle finger - orcid.org/0000-0001-5208-3432 Triangular end part of the outermost long bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -233309,19 +234670,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent end part of innermost long bone of the middle finger - - Absent end part of innermost long bone of the middle finger - orcid.org/0000-0001-5208-3432 - - - - Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Absent end part of innermost long bone of the middle finger + + + + @@ -233370,19 +234731,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bracket shaped end part of innermost long bone of the middle finger - - Bracket shaped end part of innermost long bone of the middle finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. + + Bracket shaped end part of innermost long bone of the middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -233431,19 +234792,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of the innermost bone of the middle finger - - A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. - HPO:curators - - - Cone-shaped end part of the innermost bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. + HPO:curators + + + @@ -233494,19 +234855,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of innermost long bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Enlarged end part of innermost long bone of the middle finger - - - - Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. HPO:curators + + Enlarged end part of innermost long bone of the middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -233556,18 +234917,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of innermost long bone of the middle finger - Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Fragmentation of end part of innermost long bone of the middle finger + ORCID:0000-0001-5208-3432 + + Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. + HPO:curators + + + @@ -233616,19 +234977,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Irregular end part of innermost long bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Irregular end part of innermost long bone of the middle finger - - - - HPO:curators Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. + + ORCID:0000-0001-5208-3432 + Irregular end part of innermost long bone of the middle finger + + + + @@ -233678,18 +235039,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the innermost middle finger bone - HPO:curators - Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. - - - - + ORCID:0000-0001-5208-3432 Increased bone density of end part of the innermost middle finger bone - orcid.org/0000-0001-5208-3432 + + HPO:curators + Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + + @@ -233781,19 +235142,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Small end part of innermost long bone of the middle finger - - Small end part of innermost long bone of the middle finger - orcid.org/0000-0001-5208-3432 - - - - Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. HPO:curators + + Small end part of innermost long bone of the middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -233842,19 +235203,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Speckled calcifications in end part of innermost long bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Speckled calcifications in end part of innermost long bone of the middle finger - - - - HPO:curators The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. + + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of innermost long bone of the middle finger + + + + @@ -233905,8 +235266,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of innermost long bone of the middle finger - orcid.org/0000-0001-5208-3432 Triangular end part of innermost long bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -233955,7 +235316,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of the 3rd finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of the 3rd finger @@ -233999,8 +235360,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal innermost bone of middle finger - orcid.org/0000-0001-5208-3432 Abnormal innermost bone of middle finger + ORCID:0000-0001-5208-3432 @@ -234052,7 +235413,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short index fingers and second toes - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Short index fingers and second toes @@ -234109,9 +235470,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy doelkens human_phenotype Broad pinky finger bones - Broad little finger bones Broad pinkie finger bones + Broad little finger bones + + ORCID:0000-0001-5208-3432 + Broad little finger bones + + + + HPO:curators Increased width of the phalanges of the 5th finger. @@ -234119,7 +235487,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad pinky finger bones @@ -234127,14 +235495,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad pinkie finger bones - http://orcid.org/0000-0001-5208-3432 - - - - - - http://orcid.org/0000-0001-5208-3432 - Broad little finger bones + ORCID:0000-0001-5208-3432 @@ -234179,28 +235540,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped pinky finger bones - Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:curators - - - - - orcid.org/0000-0001-6908-9849 - Bullet-shaped pinkie finger bones + Bullet-shaped little finger bones + ORCID:0000-0001-6908-9849 Bullet-shaped pinky finger bones - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 - Bullet-shaped little finger bones + Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:curators + + + + + ORCID:0000-0001-6908-9849 + Bullet-shaped pinkie finger bones @@ -234240,14 +235601,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C4024410 doelkens human_phenotype - Absent/small pinky finger bones Absent/underdeveloped pinky finger bones + Absent/small pinky finger bones Absent/small little finger bones Absent/small pinkie finger bones - Absent/small little finger bones - http://orcid.org/0000-0001-5208-3432 + Absent/underdeveloped pinky finger bones + ORCID:0000-0001-5208-3432 @@ -234259,22 +235620,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped pinky finger bones + ORCID:0000-0001-5208-3432 + Absent/small pinkie finger bones - http://orcid.org/0000-0001-5208-3432 - Absent/small pinkie finger bones + ORCID:0000-0001-5208-3432 + Absent/small pinky finger bones - Absent/small pinky finger bones - http://orcid.org/0000-0001-5208-3432 + Absent/small little finger bones + ORCID:0000-0001-5208-3432 @@ -234334,31 +235695,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in pinky finger bone - Uneven increase in bone density in pinky finger bone - orcid.org/0000-0001-5208-3432 + HPO:probinson + Uneven increase in bone density of one or more of the phalanges of the 5th finger. - - + - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in little finger bone - orcid.org/0000-0001-5208-3432 Uneven increase in bone density in pinkie finger bone + ORCID:0000-0001-5208-3432 - HPO:probinson - Uneven increase in bone density of one or more of the phalanges of the 5th finger. + Uneven increase in bone density in pinky finger bone + ORCID:0000-0001-5208-3432 - + + @@ -234400,27 +235761,27 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped pinkie finger bones + HPO:curators + Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + + + + ORCID:0000-0001-5208-3432 Triangular shaped little finger bones - http://orcid.org/0000-0001-5208-3432 Triangular shaped pinky finger bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - HPO:curators - Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped pinkie finger bones @@ -234445,14 +235806,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Rhomboid or triangular shaped little finger bone - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Rhomboid or triangular shaped pinky finger bone - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Rhomboid or triangular shaped pinkie finger bone @@ -234465,7 +235826,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Rhomboid or triangular shaped little finger bone @@ -234509,18 +235870,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy doelkens human_phenotype - - Absent fingers - - - - Aplasia of one or more fingers. HPO:curators + + Absent fingers + + + + @@ -234577,18 +235938,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormally short finger associated with developmental hypoplasia. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Stubby finger + ORCID:0000-0001-5208-3432 + + Abnormally short finger associated with developmental hypoplasia. + HPO:probinson + + + Short finger @@ -234645,15 +236006,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of pinkie finger bone - Absent end part of little finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent end part of pinkie finger bone - Absent end part of pinkie finger bone - orcid.org/0000-0001-5208-3432 + Absent end part of little finger bone + ORCID:0000-0001-5208-3432 @@ -234666,7 +236027,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -234721,22 +236082,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of pinkie finger bone - orcid.org/0000-0001-5208-3432 - Bracket shaped end part of pinkie finger bone + Bracket shaped end part of pinky finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of little finger bone - orcid.org/0000-0001-5208-3432 - Bracket shaped end part of pinky finger bone + ORCID:0000-0001-5208-3432 + Bracket shaped end part of pinkie finger bone @@ -234797,32 +236158,32 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the pinkie finger bones - orcid.org/0000-0001-5208-3432 Cone-shaped end part of the pinky finger bones + ORCID:0000-0001-5208-3432 - A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the pinkie finger bones - orcid.org/0000-0001-5208-3432 Cone-shaped end part of the little finger bones + ORCID:0000-0001-5208-3432 + + A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. + HPO:curators + + + @@ -234872,9 +236233,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the little finger bones Enlarged end part of the pinkie finger bones + + ORCID:0000-0001-5208-3432 + Enlarged end part of the pinky finger bones + + + + Enlarged end part of the little finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -234887,14 +236255,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the pinkie finger bones - orcid.org/0000-0001-5208-3432 - - - - - - Enlarged end part of the pinky finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -234949,32 +236310,32 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the little finger bones - orcid.org/0000-0001-5208-3432 + Fragmented appearance of the epiphyses of the 5th finger. + HPO:curators + + + + Fragmentation of the end part of the pinky finger bones + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the little finger bones + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the pinkie finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - - Fragmented appearance of the epiphyses of the 5th finger. - HPO:curators - - - @@ -235025,22 +236386,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the little finger bones - Irregular end part of the little finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Irregular end part of the pinky finger bones - orcid.org/0000-0001-5208-3432 Irregular end part of the pinkie finger bones - - - - - - Irregular end part of the pinky finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -235051,6 +236405,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Irregular end part of the little finger bones + + + + @@ -235102,31 +236463,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the pinky finger - HPO:curators - Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the pinky finger - + + Increased bone density of end part of the pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - Increased bone density of end part of the pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the little finger - Increased bone density of end part of the little finger - orcid.org/0000-0001-5208-3432 + HPO:curators + Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. - - + @@ -235220,28 +236581,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of pinkie finger bone - Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. - HPO:curators + Small end part of little finger bone + ORCID:0000-0001-5208-3432 - + + - orcid.org/0000-0001-5208-3432 - Small end part of pinky finger bone + Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. + HPO:curators - - + - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of pinkie finger bone - orcid.org/0000-0001-5208-3432 - Small end part of little finger bone + Small end part of pinky finger bone + ORCID:0000-0001-5208-3432 @@ -235296,31 +236657,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of pinkie finger bone - orcid.org/0000-0001-5208-3432 - Speckled calcifications in end part of pinkie finger bone + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in end part of little finger bone - HPO:curators - The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of pinkie finger bone - + + - orcid.org/0000-0001-5208-3432 - Speckled calcifications in end part of pinky finger bone + HPO:curators + The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. - - + @@ -235373,31 +236734,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the little finger + ORCID:0000-0001-5208-3432 Triangular end part of the pinkie finger - orcid.org/0000-0001-5208-3432 - A triangular appearance of the epiphyses of the 5th finger of the hand. - HPO:curators + ORCID:0000-0001-5208-3432 + Triangular end part of the little finger - + + Triangular end part of the pinky finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Triangular end part of the little finger + A triangular appearance of the epiphyses of the 5th finger of the hand. + HPO:curators - - + @@ -235453,8 +236814,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Absent end part of the ring finger bone - orcid.org/0000-0001-5208-3432 @@ -235507,18 +236868,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of ring finger bones - Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Bracket shaped end part of ring finger bones - orcid.org/0000-0001-5208-3432 + + Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. + HPO:curators + + + @@ -235567,18 +236928,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the ring finger bones - A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the ring finger bones + + A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. + HPO:curators + + + @@ -235627,18 +236988,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the ring finger bones - Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the ring finger bones + + Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. + HPO:curators + + + @@ -235693,7 +237054,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the ring finger bones @@ -235746,19 +237107,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Irregular end part of the ring finger bones - - orcid.org/0000-0001-5208-3432 - Irregular end part of the ring finger bones - - - - HPO:curators Irregular radiographic opacity of the epiphyses of the 4th finger. + + ORCID:0000-0001-5208-3432 + Irregular end part of the ring finger bones + + + + @@ -235815,7 +237176,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the ring finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -235910,18 +237271,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of ring finger bone - Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Small end part of ring finger bone + ORCID:0000-0001-5208-3432 + + Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. + HPO:curators + + + @@ -235970,18 +237331,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of ring finger bone - HPO:curators - The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. - - - - - orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of ring finger bone + ORCID:0000-0001-5208-3432 + + HPO:curators + The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. + + + @@ -236031,8 +237392,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of ring finger bone + ORCID:0000-0001-5208-3432 Triangular end part of ring finger bone - orcid.org/0000-0001-5208-3432 @@ -236081,8 +237442,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad bones of ring finger - orcid.org/0000-0001-5208-3432 Broad bones of ring finger + ORCID:0000-0001-5208-3432 @@ -236131,18 +237492,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped of bone of ring finger - Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Bullet-shaped of bone of ring finger - orcid.org/0000-0001-5208-3432 + + Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:curators + + + @@ -236196,18 +237557,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in ring finger bone - HPO:probinson - Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. - - - - + ORCID:0000-0001-5208-3432 Uneven increase in bone density in ring finger bone - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. + + + @@ -236245,19 +237606,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped bone of ring finger - - Triangular shaped bone of ring finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + ORCID:0000-0001-5208-3432 + Triangular shaped bone of ring finger + + + + @@ -236296,14 +237657,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped ring finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small ring finger bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped ring finger bones @@ -236363,7 +237724,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of middle finger bone @@ -236417,18 +237778,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of middle finger bone - Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Bracket shaped end part of middle finger bone + ORCID:0000-0001-5208-3432 + + Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. + HPO:curators + + + @@ -236477,18 +237838,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of middle finger bone - A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Cone-shaped end part of middle finger bone - orcid.org/0000-0001-5208-3432 + + A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. + HPO:curators + + + @@ -236543,8 +237904,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Enlarged end part of middle finger bone + ORCID:0000-0001-5208-3432 @@ -236597,7 +237958,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of middle finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of end part of middle finger bone @@ -236657,18 +238018,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of middle finger bone - HPO:curators - Irregular radiographic opacity of the epiphyses of the 3rd finger. - - - - - orcid.org/0000-0001-5208-3432 Irregular end part of middle finger bone + ORCID:0000-0001-5208-3432 + + HPO:curators + Irregular radiographic opacity of the epiphyses of the 3rd finger. + + + @@ -236717,19 +238078,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Increased bone density of end part of the middle finger bone - - HPO:curators - Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. - - - Increased bone density of end part of the middle finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:curators + Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + + @@ -236822,8 +238183,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of middle finger bone - orcid.org/0000-0001-5208-3432 Small end part of middle finger bone + ORCID:0000-0001-5208-3432 @@ -236881,19 +238242,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Speckled calcifications in end part of middle finger bone - - HPO:curators - The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. - - - Speckled calcifications in end part of middle finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:curators + The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. + + + @@ -236943,8 +238304,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of middle finger bone - orcid.org/0000-0001-5208-3432 Triangular end part of middle finger bone + ORCID:0000-0001-5208-3432 @@ -236993,15 +238354,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small outermost middle finger bone - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped outermost middle finger bone + Absent/small outermost middle finger bone + ORCID:0000-0001-5208-3432 - Absent/small outermost middle finger bone - http://orcid.org/0000-0001-5208-3432 + Absent/underdeveloped outermost middle finger bone + ORCID:0000-0001-5208-3432 @@ -237044,19 +238405,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Broad outermost bone of middle finger - - Broad outermost bone of middle finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators Increased width of the distal phalanx of the 3rd finger. + + ORCID:0000-0001-5208-3432 + Broad outermost bone of middle finger + + + + @@ -237102,8 +238463,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Bullet-shaped outermost bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -237207,8 +238568,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the outermost bone of the 3rd finger + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the outermost bone of the 3rd finger - orcid.org/0000-0001-5208-3432 @@ -237265,7 +238626,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused outermost and middle bones of middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused outermost and middle bones of middle finger @@ -237315,19 +238676,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped outermost bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Triangular shaped outermost bone of the middle finger - - - - HPO:curators Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + ORCID:0000-0001-5208-3432 + Triangular shaped outermost bone of the middle finger + + + + @@ -237367,8 +238728,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved outermost bone of the 3rd finger + ORCID:0000-0001-5208-3432 Curved outermost bone of the 3rd finger - orcid.org/0000-0001-5208-3432 @@ -237424,7 +238785,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent of the outermost bone of the middle finger @@ -237470,19 +238831,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Broad middle bone of middle finger - - orcid.org/0000-0001-5208-3432 - Broad middle bone of middle finger - - - - HPO:curators Increased width of the middle phalanx of the 3rd finger. + + ORCID:0000-0001-5208-3432 + Broad middle bone of middle finger + + + + @@ -237521,19 +238882,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped middle bone of middle finger - - orcid.org/0000-0001-5208-3432 - Bullet-shaped middle bone of middle finger - - - - Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected. HPO:curators + + ORCID:0000-0001-5208-3432 + Bullet-shaped middle bone of middle finger + + + + @@ -237573,18 +238934,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved middle bone of the middle finger - Curved appearance of the middle phalanx of the 3rd (middle) finger. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Curved middle bone of the middle finger - orcid.org/0000-0001-5208-3432 + + Curved appearance of the middle phalanx of the 3rd (middle) finger. + HPO:curators + + + @@ -237682,7 +239043,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the middle bone of the middle finger @@ -237736,19 +239097,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused middle bone of middle finger - - Fused middle bone of middle finger - http://orcid.org/0000-0001-5208-3432 - - - - Fusion of the middle phalanx of the 3rd finger with another bone. HPO:curators + + Fused middle bone of middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -237788,8 +239149,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped middle bone of the middle finger - http://orcid.org/0000-0001-5208-3432 Triangular shaped middle bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -237838,15 +239199,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small middle bone of the middle finger - Absent/underdeveloped middle bone of the middle finger - http://orcid.org/0000-0001-5208-3432 + Absent/small middle bone of the middle finger + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 - Absent/small middle bone of the middle finger + Absent/underdeveloped middle bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -237899,7 +239260,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent middle bone of middle finger @@ -237946,19 +239307,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Short middle bone of middle finger - - orcid.org/0000-0001-5208-3432 - Short middle bone of middle finger - - - - HPO:sdoelken Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. + + Short middle bone of middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -237999,18 +239360,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide bones of middle finger - HPO:curators - Increased width of the phalanges of the 3rd finger. - - - - + ORCID:0000-0001-5208-3432 Wide bones of middle finger - http://orcid.org/0000-0001-5208-3432 + + HPO:curators + Increased width of the phalanges of the 3rd finger. + + + @@ -238048,19 +239409,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped bones of middle finger - - Bullet-shaped bones of middle finger - http://orcid.org/0000-0001-5208-3432 - - - - Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:curators + + ORCID:0000-0001-5208-3432 + Bullet-shaped bones of middle finger + + + + @@ -238099,19 +239460,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Curved bones of middle finger - - Curved appearance of the phalanges of the 3rd finger. - HPO:curators - - - Curved bones of middle finger - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Curved appearance of the phalanges of the 3rd finger. + HPO:curators + + + @@ -238211,7 +239572,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in middle finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in middle finger bone @@ -238265,19 +239626,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused middle finger - - orcid.org/0000-0001-5208-3432 - Fused middle finger - - - - Fusion of two or more bones of the 3rd finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Fused middle finger + + + + @@ -238316,7 +239677,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped bone of the middle finger - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Triangular shaped bone of the middle finger @@ -238373,14 +239734,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy HP:0004165 + ORCID:0000-0001-5208-3432 Absent/underdeveloped middle finger bone - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small middle finger bone @@ -238393,10 +239754,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy obsolete Aplasia of the phalanges of the 3rd finger - 2009-01-14T04:11:21Z HP:0009447 HP:0009448 - doelkens true @@ -238406,10 +239765,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy obsolete Hypoplastic/small phalanges of the 3rd finger - 2009-01-14T04:11:21Z HP:0009447 HP:0009449 - doelkens true @@ -238457,7 +239814,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad innermost bone of middle finger @@ -238501,19 +239858,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped innermost bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Bullet-shaped innermost bone of the middle finger - - - - Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. HPO:curators + + ORCID:0000-0001-5208-3432 + Bullet-shaped innermost bone of the middle finger + + + + @@ -238552,19 +239909,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Curved innermost bone of middle finger - - Curved innermost bone of middle finger - orcid.org/0000-0001-6908-9849 - - - - Curved appearance of the proximal phalanx of the 3rd finger. HPO:curators + + Curved innermost bone of middle finger + ORCID:0000-0001-6908-9849 + + + + @@ -238662,8 +240019,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the innermost bone of the middle finger - orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of the middle finger + ORCID:0000-0001-5208-3432 @@ -238723,8 +240080,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Fused innermost bone of middle finger - orcid.org/0000-0001-5208-3432 @@ -238768,8 +240125,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped innermost bone of middle finger + ORCID:0000-0001-6908-9849 Triangular shaped innermost bone of middle finger - orcid.org/0000-0001-6908-9849 @@ -238818,15 +240175,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small innermost bone of middle finger - orcid.org/0000-0001-5208-3432 - Absent/small innermost bone of middle finger + ORCID:0000-0001-5208-3432 + Absent/underdeveloped innermost bone of middle finger - Absent/underdeveloped innermost bone of middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small innermost bone of middle finger @@ -238870,18 +240227,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent innermost bone of middle finger - Absence of the proximal phalanx of the 3rd finger. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Absent innermost bone of middle finger + ORCID:0000-0001-5208-3432 + + Absence of the proximal phalanx of the 3rd finger. + HPO:curators + + + @@ -238927,8 +240284,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short innermost bone of middle finger - orcid.org/0000-0001-5208-3432 Short innermost bone of middle finger + ORCID:0000-0001-5208-3432 @@ -238976,19 +240333,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent middle finger - - Absent middle finger - orcid.org/0000-0001-5208-3432 - - - - Absent 3rd finger. HPO:curators + + Absent middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -239065,18 +240422,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Inward turned middle finger - Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). - HPO:sdoelken - - - - - orcid.org/0000-0001-6908-9849 Inward turned middle finger + ORCID:0000-0001-6908-9849 + + Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). + HPO:sdoelken + + + @@ -239314,8 +240671,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Displaced index finger + ORCID:0000-0001-5208-3432 Displaced index finger - orcid.org/0000-0001-5208-3432 @@ -239371,7 +240728,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Contracture of the outermost hinge joint of the 3rd finger - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -239580,19 +240937,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused innermost and middle bone of index finger - - orcid.org/0000-0001-5208-3432 - Fused innermost and middle bone of index finger - - - - Fusion of the proximal and middle phalanges of the 4th finger. HPO:sdoelken + + Fused innermost and middle bone of index finger + ORCID:0000-0001-5208-3432 + + + + @@ -239635,19 +240992,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused innermost bone of ring finger with 4th long bone of hand - - orcid.org/0000-0001-5208-3432 - Fused innermost bone of ring finger with 4th long bone of hand - - - - Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal. HPO:curators + + Fused innermost bone of ring finger with 4th long bone of hand + ORCID:0000-0001-5208-3432 + + + + @@ -239691,19 +241048,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused of innermost and middle bones of middle finger - - Fusion of the proximal and middle phalanges of the 3rd finger. - HPO:curators - - - Fused of innermost and middle bones of middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Fusion of the proximal and middle phalanges of the 3rd finger. + HPO:curators + + + @@ -239747,18 +241104,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost bones of middle finger with middle long bone of hand - Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Fused innermost bones of middle finger with middle long bone of hand + ORCID:0000-0001-5208-3432 + + Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal. + HPO:curators + + + @@ -239804,18 +241161,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Displaced hand or fingers of the hand - Displacement of the hand or of fingers of the hand from their normal position. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Displaced hand or fingers of the hand - orcid.org/0000-0001-5208-3432 + + Displacement of the hand or of fingers of the hand from their normal position. + HPO:curators + + + @@ -239935,8 +241292,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Ulnar deviation of the hands HPO:skoehler + Ulnar deviation of the hands @@ -239994,7 +241351,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of index finger @@ -240055,19 +241412,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bracket shaped end part of index finger - - orcid.org/0000-0001-5208-3432 - Bracket shaped end part of index finger - - - - Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HPO:curators + + ORCID:0000-0001-5208-3432 + Bracket shaped end part of index finger + + + + @@ -240116,18 +241473,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the index finger - A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Cone-shaped end part of the index finger + ORCID:0000-0001-5208-3432 + + A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. + HPO:curators + + + @@ -240177,7 +241534,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -240236,18 +241593,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of the index finger - Fragmented appearance of the epiphyses of the 2nd finger. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Fragmentation of end part of the index finger + ORCID:0000-0001-5208-3432 + + Fragmented appearance of the epiphyses of the 2nd finger. + HPO:curators + + + @@ -240296,7 +241653,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the index finger @@ -240363,7 +241720,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the index finger bone @@ -240462,18 +241819,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the index finger - Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Small end part of the index finger + ORCID:0000-0001-5208-3432 + + Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. + HPO:curators + + + @@ -240528,8 +241885,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Speckled calcifications in end part of the index finger - orcid.org/0000-0001-5208-3432 @@ -240582,18 +241939,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the index finger - A triangular appearance of the epiphyses of the 2nd finger of the hand. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Triangular end part of the index finger + ORCID:0000-0001-5208-3432 + + A triangular appearance of the epiphyses of the 2nd finger of the hand. + HPO:curators + + + @@ -240644,8 +242001,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the outermost bone of the index finger - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the index finger + ORCID:0000-0001-5208-3432 @@ -240700,8 +242057,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of end part of the middle bone of the index finger + ORCID:0000-0001-5208-3432 Abnormality of end part of the middle bone of the index finger - orcid.org/0000-0001-5208-3432 @@ -240756,7 +242113,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of end part of the outermost bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of end part of the outermost bone of the index finger @@ -240819,7 +242176,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the outermost bone of the index finger @@ -240880,7 +242237,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the outermost bone of the index finger @@ -240934,19 +242291,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of the outermost bone of the index finger - - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the outermost bone of the index finger - - - - A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HPO:curators + + ORCID:0000-0001-5208-3432 + Cone-shaped end part of the outermost bone of the index finger + + + + @@ -240995,19 +242352,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of the outermost bone of the index finger - - orcid.org/0000-0001-5208-3432 - Enlarged end part of the outermost bone of the index finger - - - - Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. HPO:curators + + Enlarged end part of the outermost bone of the index finger + ORCID:0000-0001-5208-3432 + + + + @@ -241057,8 +242414,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of the outermost bone of the index finger + ORCID:0000-0001-5208-3432 Fragmentation of end part of the outermost bone of the index finger - orcid.org/0000-0001-5208-3432 @@ -241117,19 +242474,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Irregular end part of the outermost bone of the index finger - - orcid.org/0000-0001-5208-3432 - Irregular end part of the outermost bone of the index finger - - - - HPO:curators Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. + + ORCID:0000-0001-5208-3432 + Irregular end part of the outermost bone of the index finger + + + + @@ -241181,18 +242538,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the outermost bone of the index finger - HPO:curators - Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the outermost bone of the index finger + + HPO:curators + Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + + @@ -241285,18 +242642,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the outermost bone of the index finger - Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Small end part of the outermost bone of the index finger + ORCID:0000-0001-5208-3432 + + Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. + HPO:curators + + + @@ -241352,8 +242709,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the outermost bone of the index finger + ORCID:0000-0001-5208-3432 @@ -241413,7 +242770,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the outermost bone of the index finger @@ -241470,7 +242827,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing end part of the middle long bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -241523,7 +242880,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the middle long bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the middle long bone of the index finger @@ -241579,7 +242936,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the middle long bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the middle long bone of the index finger @@ -241633,8 +242990,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the middle bone of the index finger - orcid.org/0000-0001-5208-3432 Enlarged end part of the middle bone of the index finger + ORCID:0000-0001-5208-3432 @@ -241687,8 +243044,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of the middle long bone of the index finger - orcid.org/0000-0001-5208-3432 Fragmentation of end part of the middle long bone of the index finger + ORCID:0000-0001-5208-3432 @@ -241742,7 +243099,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the middle long bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -241795,7 +243152,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the middle bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the middle bone of the index finger @@ -241885,7 +243242,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the innermost long bone of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the innermost long bone of index finger @@ -241940,7 +243297,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of the middle bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -241993,8 +243350,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the middle bone of the index finger + ORCID:0000-0001-5208-3432 Triangular end part of the middle bone of the index finger - orcid.org/0000-0001-5208-3432 @@ -242047,8 +243404,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of innermost long bone of index finger - orcid.org/0000-0001-5208-3432 Absent end part of innermost long bone of index finger + ORCID:0000-0001-5208-3432 @@ -242103,7 +243460,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of innermost long bone of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of innermost long bone of index finger @@ -242160,7 +243517,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of innermost long bone of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -242215,8 +243572,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of innermost long bone of index finger + ORCID:0000-0001-5208-3432 Enlarged end part of innermost long bone of index finger - orcid.org/0000-0001-5208-3432 @@ -242269,7 +243626,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of innermost long bone of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of end part of innermost long bone of index finger @@ -242323,8 +243680,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of innermost long bone of index finger - orcid.org/0000-0001-5208-3432 Irregular end part of innermost long bone of index finger + ORCID:0000-0001-5208-3432 @@ -242377,7 +243734,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the innermost bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the innermost bone of the index finger @@ -242467,8 +243824,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of proximal long bond of index finger - orcid.org/0000-0001-5208-3432 Small end part of proximal long bond of index finger + ORCID:0000-0001-5208-3432 @@ -242521,7 +243878,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of the innermost long bone of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in end part of the innermost long bone of index finger @@ -242577,8 +243934,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of innermost long bone of index finger - orcid.org/0000-0001-5208-3432 Triangular end part of innermost long bone of index finger + ORCID:0000-0001-5208-3432 @@ -242623,19 +243980,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent index finger - - Absent 2nd (index) finger. - HPO:curators - - - Absent index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absent 2nd (index) finger. + HPO:curators + + + @@ -242682,13 +244039,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - Short index finger + Short index fingers - Short index fingers + Short index finger @@ -242940,8 +244297,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal index finger bones + ORCID:0000-0001-5208-3432 Abnormal index finger bones - orcid.org/0000-0001-5208-3432 @@ -242991,7 +244348,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of the 2nd finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of the 2nd finger @@ -243035,8 +244392,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal middle index finger bone + ORCID:0000-0001-5208-3432 Abnormal middle index finger bone - orcid.org/0000-0001-5208-3432 @@ -243080,7 +244437,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal innermost index finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -243129,8 +244486,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused index finger bones + ORCID:0000-0001-5208-3432 Fused index finger bones - orcid.org/0000-0001-5208-3432 @@ -243174,7 +244531,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular bones of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular bones of index finger @@ -243226,7 +244583,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide index finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -243267,8 +244624,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped index finger bones - orcid.org/0000-0001-5208-3432 Bullet-shaped index finger bones + ORCID:0000-0001-5208-3432 @@ -243311,7 +244668,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved index finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved index finger bones @@ -243407,18 +244764,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in index finger bone - HPO:probinson - Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in index finger bone + + HPO:probinson + Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. + + + @@ -243457,15 +244814,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped index finger bone - Absent/underdeveloped index finger bone - orcid.org/0000-0001-5208-3432 + Absent/small index finger bone + ORCID:0000-0001-5208-3432 - Absent/small index finger bone - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped index finger bone + ORCID:0000-0001-5208-3432 @@ -243507,18 +244864,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Abnormality of the hairline - - - - HPO:probinson The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. + + Abnormality of the hairline + + + + @@ -243537,23 +244894,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Hair growing down to cheek - Projection of scalp hair onto lateral cheek + An tongue-like extension of hair towards the cheeks. + HPO:curators - - + + ORCID:0000-0001-5889-4463 Hair growing down to cheek - orcid.org/0000-0001-5889-4463 - An tongue-like extension of hair towards the cheeks. - HPO:curators + Projection of scalp hair onto lateral cheek - + + @@ -243604,58 +244961,58 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small pharynx + ORCID:0000-0001-5889-4463 Hypotrophic pharynx - orcid.org/0000-0001-5889-4463 - Small pharynx - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased volume of pharynx - + + + + HPO:curators + Underdevelopment of the pharynx. + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased size of pharynx - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased diameter of pharynx + ORCID:0000-0001-5889-4463 Underdevelopment of pharynx - orcid.org/0000-0001-5889-4463 - Decreased length of pharynx - orcid.org/0000-0001-5889-4463 + Decreased width of pharynx + ORCID:0000-0001-5889-4463 - HPO:curators - Underdevelopment of the pharynx. - - - - - orcid.org/0000-0001-5889-4463 - Decreased width of pharynx + Decreased length of pharynx + ORCID:0000-0001-5889-4463 - Decreased volume of pharynx - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small pharynx - + @@ -243697,13 +245054,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent shinbone - - Absent shankbone - orcid.org/0000-0001-5208-3432 - - - - Absence of the tibia. HPO:probinson @@ -243711,12 +245061,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent shinbone + + ORCID:0000-0001-5208-3432 + Absent shankbone + + + + @@ -243755,15 +245112,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped outermost index finger bone - Absent/small outermost index finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped outermost index finger bone - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped outermost index finger bone + ORCID:0000-0001-5208-3432 + Absent/small outermost index finger bone @@ -243806,19 +245163,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Wide outermost bone of the index finger - - orcid.org/0000-0001-5208-3432 - Wide outermost bone of the index finger - - - - HPO:curators Increased width of the distal phalanx of the 2nd finger. + + ORCID:0000-0001-5208-3432 + Wide outermost bone of the index finger + + + + @@ -243857,19 +245214,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped outermost bone of the index finger - - Bullet-shaped outermost bone of the index finger - orcid.org/0000-0001-5208-3432 - - - - Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. HPO:curators + + Bullet-shaped outermost bone of the index finger + ORCID:0000-0001-5208-3432 + + + + @@ -243908,19 +245265,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Curved outermost bone of the index finger - - Curved outermost bone of the index finger - orcid.org/0000-0001-5208-3432 - - - - Curved appearance of the distal phalanx of the 2nd finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Curved outermost bone of the index finger + + + + @@ -243964,16 +245321,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Osteolytic defects of the outermost bone of the 2nd finger - Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. - HPO:curators + Osteolytic defects of the outermost bone of the 2nd finger + ORCID:0000-0001-5208-3432 - + - orcid.org/0000-0001-5208-3432 - Osteolytic defects of the outermost bone of the 2nd finger + Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. + HPO:curators - + @@ -244028,19 +245385,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in the outermost bone of the 2nd finger - - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in the outermost bone of the 2nd finger - - - - HPO:probinson Uneven (irregular) increase in bone density of the distal phalanx of the second finger. + + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the outermost bone of the 2nd finger + + + + @@ -244093,8 +245450,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Fused outermost and middle index finger bones - http://orcid.org/0000-0001-5208-3432 @@ -244137,19 +245494,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped outermost bone of the 2nd finger - - Triangular shaped outermost bone of the 2nd finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + ORCID:0000-0001-5208-3432 + Triangular shaped outermost bone of the 2nd finger + + + + @@ -244191,8 +245548,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent outermost index finger bone + ORCID:0000-0001-5208-3432 Absent outermost index finger bone - orcid.org/0000-0001-5208-3432 @@ -244247,7 +245604,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short outermost bone of the index finger @@ -244294,14 +245651,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small middle index finger bone + ORCID:0000-0001-5208-3432 Absent/underdeveloped middle index finger bone - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small middle index finger bone @@ -244347,7 +245704,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad middle bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -244404,7 +245761,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped middle bone of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -244448,18 +245805,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved middle bone of the index finger - Curved appearance of the middle phalanx of the 2nd finger. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Curved middle bone of the index finger - orcid.org/0000-0001-5208-3432 + + Curved appearance of the middle phalanx of the 2nd finger. + HPO:curators + + + @@ -244565,8 +245922,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the middle bone of the index finger - orcid.org/0000-0001-5208-3432 @@ -244620,7 +245977,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused middle bone of index finger @@ -244664,19 +246021,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped middle bone of index finger - - HPO:curators - Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. - - - Triangular shaped middle bone of index finger - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:curators + Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + + @@ -244719,8 +246076,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent middle bone of index finger - http://orcid.org/0000-0001-5208-3432 Absent middle bone of index finger + ORCID:0000-0001-5208-3432 @@ -244773,7 +246130,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short middle bone of index finger - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short middle bone of index finger @@ -244834,7 +246191,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused innermost and middle index finger bones @@ -244878,14 +246235,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped innermost index finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped innermost index finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small innermost index finger bone @@ -244932,8 +246289,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide innermost bone of index finger + ORCID:0000-0001-5208-3432 Wide innermost bone of index finger - orcid.org/0000-0001-5208-3432 @@ -244983,8 +246340,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped innermost bone of index finger - orcid.org/0000-0001-5208-3432 Bullet-shaped innermost bone of index finger + ORCID:0000-0001-5208-3432 @@ -245033,19 +246390,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Curved innermost bone of index finger - - orcid.org/0000-0001-5208-3432 - Curved innermost bone of index finger - - - - Curved appearance of the proximal phalanx of the 2nd finger. HPO:curators + + ORCID:0000-0001-5208-3432 + Curved innermost bone of index finger + + + + @@ -245145,18 +246502,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in innermost index finger bone - HPO:probinson - Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. - - - - + ORCID:0000-0001-5208-3432 Uneven increase in bone density in innermost index finger bone - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. + + + @@ -245200,18 +246557,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost bone of index finger - Fusion of the proximal phalanx of the 2nd finger with another bone. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Fused innermost bone of index finger + ORCID:0000-0001-5208-3432 + + Fusion of the proximal phalanx of the 2nd finger with another bone. + HPO:curators + + + @@ -245252,19 +246609,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped innermost bone of index finger - - Triangular shaped innermost bone of index finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + ORCID:0000-0001-5208-3432 + Triangular shaped innermost bone of index finger + + + + @@ -245567,7 +246924,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent innermost bone of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent innermost bone of index finger @@ -245669,18 +247026,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost bone of index finger with 2nd long bone of hand - Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Fused innermost bone of index finger with 2nd long bone of hand + ORCID:0000-0001-5208-3432 + + Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal. + HPO:curators + + + @@ -245734,7 +247091,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of end part of thumb long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -245852,13 +247209,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small thumb Absent/underdeveloped thumb - - Absent/underdeveloped thumb - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Hypoplastic/small or absent thumb. @@ -245866,8 +247216,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped thumb + + + + + Absent/small thumb + ORCID:0000-0001-5208-3432 @@ -245919,8 +247276,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Abnormality of the thumb bones + ORCID:0000-0001-5208-3432 @@ -245972,8 +247329,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Abnormal thumb placement - orcid.org/0000-0001-5208-3432 @@ -246023,18 +247380,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of outermost bone of the thumb - Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of outermost bone of the thumb + + Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. + HPO:curators + + + @@ -246075,8 +247432,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the innermost bone of the thumb - http://orcid.org/0000-0001-5208-3432 Complete duplication of the innermost bone of the thumb + ORCID:0000-0001-5208-3432 @@ -246119,19 +247476,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial/complete duplication of the 1st long bone of hand - - http://orcid.org/0000-0001-5208-3432 - Partial/complete duplication of the 1st long bone of hand - - - - HPO:probinson Partail or complete duplication of the first metacarpal bone. + + Partial/complete duplication of the 1st long bone of hand + ORCID:0000-0001-5208-3432 + + + + @@ -246159,18 +247516,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Notched outermost bone of the thumb - HPO:sdoelken - Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. - - - - - orcid.org/0000-0001-5208-3432 Notched outermost bone of the thumb + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. + + + @@ -246210,8 +247567,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Duplication of the outermost bone of the thumb - orcid.org/0000-0001-5208-3432 @@ -246249,8 +247606,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Notched innermost bone of thumb + ORCID:0000-0001-5208-3432 Notched innermost bone of thumb - orcid.org/0000-0001-5208-3432 @@ -246279,19 +247636,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Notched thumb bone - - Notched thumb bone - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + Notched thumb bone + ORCID:0000-0001-5208-3432 + + + + @@ -246331,7 +247688,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the first long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the first long bone of hand @@ -246382,19 +247739,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy partial duplication of the first metacarpal Notched first long bone of hand - - HPO:probinson - Partial duplication of the first metacarpal bone. - - - Notched first long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:probinson + Partial duplication of the first metacarpal bone. + + + @@ -246434,18 +247791,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of the thumb - Any anomaly of the distal phalanx of thumb. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of the thumb + + Any anomaly of the distal phalanx of thumb. + HPO:probinson + + + @@ -246484,19 +247841,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Abnormal innermost thumb bone - - orcid.org/0000-0001-5208-3432 - Abnormal innermost thumb bone - - - - HPO:curators In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + ORCID:0000-0001-5208-3432 + Abnormal innermost thumb bone + + + + @@ -246504,10 +247861,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy obsolete Radial deviation of the thumb - 2009-01-29T04:35:09Z HP:0009602 HP:0009620 - doelkens true @@ -246517,10 +247872,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy obsolete Ulnar deviation of the thumb - 2009-01-29T04:35:51Z HP:0009602 HP:0009621 - doelkens true @@ -246758,26 +248111,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped innermost thumb bone Absent/small innermost thumb bone + + HPO:curators + This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + + Absent/underdeveloped innermost thumb bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small innermost thumb bone - http://orcid.org/0000-0001-5208-3432 - - HPO:curators - This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. - - - @@ -246824,8 +248177,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Broad innermost thumb bone - orcid.org/0000-0001-5208-3432 @@ -246869,7 +248222,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped innermost thumb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped innermost thumb bone @@ -246927,8 +248280,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Curved innermost thumb bone + ORCID:0000-0001-5208-3432 @@ -247031,7 +248384,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the innermost thumb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the innermost thumb bone @@ -247084,19 +248437,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fusion of thumb bone - - Fusion of a phalanx of the thumb with another bone. - HPO:probinson - - - Fusion of thumb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Fusion of a phalanx of the thumb with another bone. + HPO:probinson + + + @@ -247118,19 +248471,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular innermost thumb bone - - Triangular innermost thumb bone - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Triangular shaped proximal phalanx of the thumb. + + Triangular innermost thumb bone + ORCID:0000-0001-5208-3432 + + + + @@ -247172,19 +248525,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent innermost thumb bone - - http://orcid.org/0000-0001-5208-3432 - Absent innermost thumb bone - - - - Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HPO:probinson + + Absent innermost thumb bone + ORCID:0000-0001-5208-3432 + + + + @@ -247231,7 +248584,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short proximal thumb bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -247291,8 +248644,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Fusion of the innermost bone of the thumb with the 1st long bone of hand + ORCID:0000-0001-5208-3432 @@ -247314,15 +248667,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small outermost thumb bone - Absent/small outermost thumb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped outermost thumb bone - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped outermost thumb bone + ORCID:0000-0001-5208-3432 + Absent/small outermost thumb bone @@ -247370,26 +248723,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad outermost bone of the thumb Wide outermost bone of thumb + + HPO:sdoelken + Increased width of the distal phalanx of thumb. + + + Broad outermost bone of the thumb - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide outermost bone of thumb - orcid.org/0000-0001-5208-3432 - - HPO:sdoelken - Increased width of the distal phalanx of thumb. - - - @@ -247428,19 +248781,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped outermost bone of the thumb - - orcid.org/0000-0001-5208-3432 - Bullet-shaped outermost bone of the thumb - - - - Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected. HPO:probinson + + Bullet-shaped outermost bone of the thumb + ORCID:0000-0001-5208-3432 + + + + @@ -247486,8 +248839,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Curved outermost bone of the thumb + ORCID:0000-0001-5208-3432 @@ -247531,18 +248884,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Osteolytic defects of the outermost bone of the thumb - - orcid.org/0000-0001-5208-3432 - Osteolytic defects of the outermost bone of the thumb - - - Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. HPO:probinson + + Osteolytic defects of the outermost bone of the thumb + ORCID:0000-0001-5208-3432 + + + @@ -247604,7 +248957,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the outermost bone of the thumb - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -247627,19 +248980,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped outermost bone of the thumb - - orcid.org/0000-0001-5208-3432 - Triangular shaped outermost bone of the thumb - - - - HPO:probinson Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. + + Triangular shaped outermost bone of the thumb + ORCID:0000-0001-5208-3432 + + + + @@ -247682,10 +249035,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Aplasia of the outermost bone of the thumb - orcid.org/0000-0001-5208-3432 - Absence of the outermost bone of the thumb + ORCID:0000-0001-5208-3432 + Aplasia of the outermost bone of the thumb - @@ -247695,9 +249047,10 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Aplasia of the outermost bone of the thumb + ORCID:0000-0001-5208-3432 + Absence of the outermost bone of the thumb + @@ -247745,19 +249098,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Short outermost bone of the thumb - - HPO:sdoelken - Hypoplastic (short) distal phalanx of the thumb. - - - Short outermost bone of the thumb - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Hypoplastic (short) distal phalanx of the thumb. + + + @@ -247796,19 +249149,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped thumb bone - - orcid.org/0000-0001-5208-3432 - Bullet-shaped thumb bone - - - - An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bullet-shaped thumb bone + + + + @@ -247849,8 +249202,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved thumb bone - orcid.org/0000-0001-5208-3432 Curved thumb bone + ORCID:0000-0001-5208-3432 @@ -247957,19 +249310,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in thumb bone - - Uneven increase in bone density in thumb bone - orcid.org/0000-0001-5208-3432 - - - - An uneven increase in bone density of one or more of the phalanges of the thumb. HPO:probinson + + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in thumb bone + + + + @@ -248018,13 +249371,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused thumb bones - - http://orcid.org/0000-0001-5208-3432 - Fused thumb bones - - - - Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. HPO:probinson @@ -248032,6 +249378,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Fused thumb bones + ORCID:0000-0001-5208-3432 + + + + @@ -248059,8 +249412,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Triangular shaped thumb bone - http://orcid.org/0000-0001-5208-3432 @@ -248103,15 +249456,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped thumb bones - Absent/small thumb bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped thumb bones - Absent/underdeveloped thumb bones - http://orcid.org/0000-0001-5208-3432 + Absent/small thumb bones + ORCID:0000-0001-5208-3432 @@ -248217,7 +249570,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short thumb bone @@ -248274,8 +249627,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the outermost bone of the thumb + ORCID:0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the thumb - orcid.org/0000-0001-5208-3432 @@ -248341,8 +249694,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Abnormality of end part of thumb innermost long bone - orcid.org/0000-0001-5208-3432 @@ -248396,18 +249749,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of thumb innermost long bone - Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Absent end part of thumb innermost long bone - orcid.org/0000-0001-5208-3432 + + Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + HPO:curators + + + @@ -248463,7 +249816,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of thumb innermost long bone @@ -248518,18 +249871,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of thumb innermost long bone - A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Cone-shaped end part of thumb innermost long bone - orcid.org/0000-0001-5208-3432 + + A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + HPO:curators + + + @@ -248578,19 +249931,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of thumb innermost long bone - - Enlarged end part of thumb innermost long bone - orcid.org/0000-0001-5208-3432 - - - - Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HPO:curators + + ORCID:0000-0001-5208-3432 + Enlarged end part of thumb innermost long bone + + + + @@ -248640,18 +249993,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of thumb innermost long bone - Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Fragmentation of end part of thumb innermost long bone - orcid.org/0000-0001-5208-3432 + + Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. + HPO:probinson + + + @@ -248701,18 +250054,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of thumb innermost long bone - HPO:curators - Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. - - - - - orcid.org/0000-0001-5208-3432 Irregular end part of thumb innermost long bone + ORCID:0000-0001-5208-3432 + + HPO:curators + Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + + @@ -248769,7 +250122,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the innermost bone of the thumb - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -248872,8 +250225,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Small end part of thumb innermost long bone - orcid.org/0000-0001-5208-3432 @@ -248926,19 +250279,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Speckled calcifications in end part of thumb innermost long bone - - HPO:probinson - The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. - - - Speckled calcifications in end part of thumb innermost long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:probinson + The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + + @@ -248988,7 +250341,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of thumb innermost long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of thumb innermost long bone @@ -249049,8 +250402,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of thumb outermost long bone - orcid.org/0000-0001-5208-3432 Absent end part of thumb outermost long bone + ORCID:0000-0001-5208-3432 @@ -249109,19 +250462,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bracket shaped end part of thumb outermost long bone - - HPO:probinson - The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. - - - Bracket shaped end part of thumb outermost long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:probinson + The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. + + + @@ -249179,7 +250532,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of thumb outermost long bone @@ -249235,19 +250588,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of thumb outermost long bone - - Enlarged end part of thumb outermost long bone - orcid.org/0000-0001-5208-3432 - - - - Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. HPO:curators + + ORCID:0000-0001-5208-3432 + Enlarged end part of thumb outermost long bone + + + + @@ -249303,8 +250656,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Fragmentation of end part thumb outermost long bone + ORCID:0000-0001-5208-3432 @@ -249358,18 +250711,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of thumb outermost bone - HPO:probinson - Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. - - - - + ORCID:0000-0001-5208-3432 Irregular end part of thumb outermost bone - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. + + + @@ -249418,19 +250771,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Increased bone density of end part of the outermost bone of the thumb - - orcid.org/0000-0001-5208-3432 - Increased bone density of end part of the outermost bone of the thumb - - - - HPO:probinson Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the outermost bone of the thumb + + + + @@ -249476,8 +250829,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Pseudoepiphysis of the outermost bone of the thumb - orcid.org/0000-0001-5208-3432 @@ -249530,7 +250883,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of thumb outermost bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of thumb outermost bone @@ -249590,19 +250943,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Speckled calcifications in the end part of the outermost thumb bone - - orcid.org/0000-0001-5208-3432 - Speckled calcifications in the end part of the outermost thumb bone - - - - HPO:probinson The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. + + Speckled calcifications in the end part of the outermost thumb bone + ORCID:0000-0001-5208-3432 + + + + @@ -249653,14 +251006,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of thumb outermost bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular epiphysis of the outermost bone of the thumb - orcid.org/0000-0001-5208-3432 Triangular end part of thumb outermost bone + ORCID:0000-0001-5208-3432 @@ -249709,18 +251062,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of thumb outermost bone - Absence of one or more epiphyses of the thumb. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Absent end part of thumb outermost bone - orcid.org/0000-0001-5208-3432 + + Absence of one or more epiphyses of the thumb. + HPO:curators + + + @@ -249776,7 +251129,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the thumb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -249831,19 +251184,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of thumb long bone - - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of thumb long bone - - - - A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. HPO:probinson + + ORCID:0000-0001-5208-3432 + Cone-shaped end part of thumb long bone + + + + @@ -249893,8 +251246,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of thumb long bone + ORCID:0000-0001-5208-3432 Enlarged end part of thumb long bone - orcid.org/0000-0001-5208-3432 @@ -249954,18 +251307,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of end part of long bone of thumb - Epiphysis of the thumb having multiple bony fragments. - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 Fragmentation of end part of long bone of thumb + ORCID:0000-0001-5889-4463 + + Epiphysis of the thumb having multiple bony fragments. + HPO:probinson + + + @@ -250015,8 +251368,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of thumb long bone + ORCID:0000-0001-5889-4463 Irregular end part of thumb long bone - orcid.org/0000-0001-5889-4463 @@ -250083,8 +251436,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5889-4463 Increased bone density of end part of the thumb - orcid.org/0000-0001-5889-4463 @@ -250182,7 +251535,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of thumb long bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -250241,19 +251594,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Speckled calcifications in end part of thumb bone - - Speckled calcifications in end part of thumb bone - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. + + Speckled calcifications in end part of thumb bone + ORCID:0000-0001-5208-3432 + + + + @@ -250302,7 +251655,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the thumb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -250440,7 +251793,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused finger bones - http://orcid.org/0000-0001-5208-3432 + HPO:curators + Symphalangism of the hand + + + + + ORCID:0000-0001-5208-3432 Fused finger bones @@ -250452,12 +251811,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - HPO:curators - Symphalangism of the hand - - - @@ -250512,8 +251865,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 Fused long bones of hand + ORCID:0000-0001-5208-3432 @@ -250568,19 +251921,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused wrist bones - - Fused wrist bones - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). + + ORCID:0000-0001-5208-3432 + Fused wrist bones + + + + @@ -250628,7 +251981,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fusion involving 1st long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -250677,7 +252030,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fusion involving the 2nd long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fusion involving the 2nd long bone of hand @@ -250700,8 +252053,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fusion involving the 3rd long bone of hand + ORCID:0000-0001-5208-3432 Fusion involving the 3rd long bone of hand - orcid.org/0000-0001-5208-3432 @@ -250723,8 +252076,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fusion involving the 4th long bone of hand - orcid.org/0000-0001-5208-3432 Fusion involving the 4th long bone of hand + ORCID:0000-0001-5208-3432 @@ -250746,8 +252099,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fusion involving the 5th long bone of hand - orcid.org/0000-0001-5208-3432 Fusion involving the 5th long bone of hand + ORCID:0000-0001-5208-3432 @@ -251187,18 +252540,17 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Pitting of tooth enamel - Pitting of tooth enamel - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Tooth enamel pits - Tooth enamel pits - orcid.org/0000-0001-5889-4463 + HPO:curators + The presence of small depressions in the dental enamel. - - + Dental enamel pits @@ -251207,10 +252559,11 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:curators - The presence of small depressions in the dental enamel. + Pitting of tooth enamel + ORCID:0000-0001-5889-4463 - + + @@ -251386,6 +252739,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter + + Renal tumors + + + + Kidney cancer @@ -251398,12 +252757,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Renal tumors - - - - @@ -251976,19 +253329,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormally small parotid gland - orcid.org/0000-0001-5889-4463 - Abnormally small parotid gland + ORCID:0000-0001-5889-4463 + Hypoplasia of parotid gland - + - Hypoplasia of parotid gland - orcid.org/0000-0001-5889-4463 + Abnormally small parotid gland + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of parotid gland @@ -252060,24 +253413,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Scarring of kidney arteries - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - HPO:curators - Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. - - - - + ORCID:0000-0001-5208-3432 Thickening of kidney artiries - orcid.org/0000-0001-5208-3432 + + HPO:curators + Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. + + + @@ -252116,18 +253469,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - HPO:probinson - Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. - - - Stiff shoulders + + HPO:probinson + Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. + + + @@ -252260,48 +253613,48 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Thick septum of nose - Abnormally increased thickness of the nasal septum. - HPO:curators + ORCID:0000-0001-5889-4463 + Broad nasal septum - + + - orcid.org/0000-0001-5889-4463 - Wide nasal septum + Abnormally increased thickness of the nasal septum. + HPO:curators - - + - Thick nasal septum + Broad septum of nose + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thick septum of nose - orcid.org/0000-0001-5889-4463 - Broad septum of nose + ORCID:0000-0001-5889-4463 + Wide nasal septum - orcid.org/0000-0001-5889-4463 - Broad nasal septum + Wide septum of nose + ORCID:0000-0001-5889-4463 - Wide septum of nose - orcid.org/0000-0001-5889-4463 + Thick nasal septum @@ -252372,35 +253725,35 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Fleshy earlobes + Prominent ear lobes - prominent ear lobules + HPO:probinson + Increased volume of the earlobe, that is, abnormally prominent ear lobules. + pmid:19152421 - - + - Prominent ear lobes + Fleshy earlobe - Fleshy earlobe + Fleshy earlobes - HPO:probinson - Increased volume of the earlobe, that is, abnormally prominent ear lobules. - pmid:19152421 + prominent ear lobules - + + Large earlobe @@ -252446,7 +253799,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent pectoralis major muscle - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent pectoralis major muscle @@ -252475,13 +253828,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cleft in cranial base - A bony defect in the skull base. - HPO:curators - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Cleft in cranial base @@ -252492,6 +253839,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + A bony defect in the skull base. + HPO:curators + + + @@ -252537,7 +253890,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Alveolar synechiae @@ -252574,15 +253927,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Adhesion of eyelids - - - - - - orcid.org/0000-0001-5889-4463 Eyelids stuck together + ORCID:0000-0001-5889-4463 @@ -252593,6 +253939,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Adhesion of eyelids + ORCID:0000-0001-5889-4463 + + + + @@ -252693,18 +254046,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Neck pterygium - - orcid.org/0000-0001-5208-3432 - Neck pterygium - - - HPO:curators Pterygia affecting the neck. + + ORCID:0000-0001-5208-3432 + Neck pterygium + + + @@ -252819,18 +254172,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Chronic pain in the limbs with no clear focal etiology. - HPO:probinson - - - Pain in extremities + + Chronic pain in the limbs with no clear focal etiology. + HPO:probinson + + + Limb pain @@ -252889,7 +254242,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Rounded columella - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -252983,18 +254336,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide hand bones - HPO:curators - Increased width of the phalanges of the hand. - - - - + ORCID:0000-0001-5208-3432 Wide hand bones - orcid.org/0000-0001-5208-3432 + + HPO:curators + Increased width of the phalanges of the hand. + + + @@ -253042,7 +254395,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped hand bones @@ -253084,8 +254437,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved hand bones + ORCID:0000-0001-5208-3432 Curved hand bones - orcid.org/0000-0001-5208-3432 @@ -253193,19 +254546,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in finger bone - - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in finger bone - - - - HPO:probinson Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. + + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in finger bone + + + + @@ -253248,19 +254601,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fused finger bones of the hand - - Fusion of two or more phalangeal bones of the hand. - HPO:curators - - - Fused finger bones of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Fusion of two or more phalangeal bones of the hand. + HPO:curators + + + @@ -253300,8 +254653,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped hand bones + ORCID:0000-0001-5208-3432 Triangular shaped hand bones - orcid.org/0000-0001-5208-3432 @@ -253357,6 +254710,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy doelkens human_phenotype Absent fingers or toes + Fyler:4173 @@ -253366,7 +254720,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent fingers or toes @@ -253417,7 +254771,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent thumbs + Absent thumb @@ -253430,7 +254784,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent thumb + Absent thumbs @@ -253494,6 +254848,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Short thumbs + + + + HPO:probinson Hypoplasia (congenital reduction in size) of the thumb. @@ -253506,12 +254866,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Short thumbs - - - - @@ -253561,8 +254915,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 Webbed 3rd-4th toes + ORCID:0000-0001-5208-3432 @@ -253648,24 +255002,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small biceps - Absence or underdevelopment of the biceps muscle. - HPO:curators + ORCID:0000-0001-5208-3432 + Absent/small biceps - + + - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped biceps - Absent/small biceps - http://orcid.org/0000-0001-5208-3432 + Absence or underdevelopment of the biceps muscle. + HPO:curators - - + @@ -253711,7 +255065,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent biceps @@ -253754,6 +255108,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped triceps Absent/small triceps + + Absent/small triceps + ORCID:0000-0001-5208-3432 + + + + Absence or underdevelopment of the triceps muscle. HPO:curators @@ -253762,14 +255123,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped triceps - http://orcid.org/0000-0001-5208-3432 - - - - - - http://orcid.org/0000-0001-5208-3432 - Absent/small triceps + ORCID:0000-0001-5208-3432 @@ -253811,19 +255165,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Absent triceps - - http://orcid.org/0000-0001-5208-3432 - Absent triceps - - - - Absence of the triceps muscle. HPO:curators + + Absent triceps + ORCID:0000-0001-5208-3432 + + + + @@ -253863,25 +255217,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped thigh muscles - Absence or underdevelopment involving the musculature of the thigh. - HPO:curators - - - - - http://orcid.org/0000-0001-5208-3432 Absent/small thigh muscles + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped thigh muscles + + Absence or underdevelopment involving the musculature of the thigh. + HPO:curators + + + @@ -253919,13 +255273,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small quadriceps Absent/underdeveloped quadriceps - - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped quadriceps - - - - Absence or underdevelopment of the quadriceps muscle. HPO:curators @@ -253933,12 +255280,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small quadriceps + + ORCID:0000-0001-5208-3432 + Absent/underdeveloped quadriceps + + + + @@ -253976,19 +255330,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Absent quads - - orcid.org/0000-0001-5208-3432 - Absent quads - - - - Absence of the quadriceps muscle. HPO:curators + + ORCID:0000-0001-5208-3432 + Absent quads + + + + @@ -254185,14 +255539,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormality of branchial arch - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 Abnormality of branchial apparatus + ORCID:0000-0001-5889-4463 @@ -254202,6 +255550,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5889-4463 + Abnormality of branchial arch + + + @@ -254339,8 +255693,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Extra spleen + ORCID:0000-0001-5208-3432 Extra spleen - orcid.org/0000-0001-5208-3432 @@ -254373,18 +255727,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype maternal hyperglycemia - - HPO:curators - Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. - - - gestational diabetes + + HPO:curators + Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. + + + Maternal diabetes @@ -254429,19 +255783,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent finger bone of the hand - - Absence of one or more of the phalanges of the hand. - HPO:curators - - - Absent finger bone of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absence of one or more of the phalanges of the hand. + HPO:curators + + + @@ -254489,18 +255843,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Short finger bones - - HPO:sdoelken - Short (hypoplastic) phalanx of finger, affecting one or more phalanges. - - - Short finger bones + + HPO:sdoelken + Short (hypoplastic) phalanx of finger, affecting one or more phalanges. + + + @@ -254545,50 +255899,50 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fewer teeth than normal - Reduced number of teeth + Fewer teeth than normal + ORCID:0000-0001-5889-4463 - + - Fewer teeth than normal - orcid.org/0000-0001-5889-4463 + Reduced number of teeth - + - orcid.org/0000-0001-5889-4463 - Decreased number of teeth + HPO:sdoelken + The presence of a reduced number of teeth as in Hypodontia or as in Anodontia. - - + Missing some teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Failure of development of some teeth + ORCID:0000-0001-5889-4463 - Decreased tooth count - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased number of teeth - + - HPO:sdoelken - The presence of a reduced number of teeth as in Hypodontia or as in Anodontia. + ORCID:0000-0001-5889-4463 + Decreased tooth count - + + @@ -254685,8 +256039,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of shaft of long bone of the upper limbs + ORCID:0000-0001-5208-3432 Abnormality of shaft of long bone of the upper limbs - orcid.org/0000-0001-5208-3432 @@ -254746,19 +256100,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Abnormality of the wide portion of upper limb bone - - Abnormality of the wide portion of upper limb bone - orcid.org/0000-0001-5208-3432 - - - - An anomaly of one or more metaphyses of the arms. HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormality of the wide portion of upper limb bone + + + + @@ -254848,13 +256202,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormality of the elbow + Abnormality of the elbows - Abnormality of the elbows + Abnormality of the elbow @@ -255035,8 +256389,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped extremities - orcid.org/0000-0001-5208-3432 Absent/underdeveloped extremities + ORCID:0000-0001-5208-3432 @@ -255048,7 +256402,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small extremities @@ -255099,8 +256453,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped lower limb bones + ORCID:0000-0001-5208-3432 Underdeveloped lower limb bones - orcid.org/0000-0001-5208-3432 @@ -255154,8 +256508,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent bones of the lower limbs + ORCID:0000-0001-5208-3432 Absent bones of the lower limbs - orcid.org/0000-0001-5208-3432 @@ -255334,31 +256688,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - Short forearm bones + Forearm shortening because of underdevelopment of one or more bones of the forearm. + HPO:probinson - - + - Forearm undergrowth + Shortened forearm - Forearm shortening because of underdevelopment of one or more bones of the forearm. - HPO:probinson + Forearm undergrowth - + + - Short forearms + Short forearm bones - Shortened forearm + Short forearms @@ -255399,8 +256753,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent forearm bones - orcid.org/0000-0001-5208-3432 Absent forearm bones + ORCID:0000-0001-5208-3432 @@ -255442,7 +256796,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent bones of the upper limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent bones of the upper limbs @@ -255491,17 +256845,11 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - Shortening of the arms + Upper limb undergrowth - - Arm shortening because of underdevelopment of one or more bones of the upper extremity. - HPO:probinson - - - Short arms @@ -255509,7 +256857,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Upper limb undergrowth + Arm shortening because of underdevelopment of one or more bones of the upper extremity. + HPO:probinson + + + + + Shortening of the arms @@ -255550,7 +256904,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent bones of the extremities - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent bones of the extremities @@ -255600,35 +256954,35 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short limbs - limb shortening + Limb undergrowth - Limb undergrowth + HPO:skoehler + Short limbs - Short limbs - HPO:skoehler + HPO:probinson + Limb shortening because of underdevelopment of one or more bones of the extremities. - - + - Short limb + limb shortening - HPO:probinson - Limb shortening because of underdevelopment of one or more bones of the extremities. + Short limb - + + @@ -255649,18 +257003,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - - Amelia - MEDDRA:10001926 - - - Congenital absence (aplasia) of one or more limbs. HPO:sdoelken + + Amelia + MEDDRA:10001926 + + + @@ -255733,18 +257087,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - - Phocomelia - MEDDRA:10034923 - - - HPO:probinson Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). + + Phocomelia + MEDDRA:10034923 + + + @@ -255794,8 +257148,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Peripheral nerve damage - orcid.org/0000-0001-5208-3432 Peripheral neuritis + ORCID:0000-0001-5208-3432 @@ -255806,8 +257160,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Peripheral nerve damage + ORCID:0000-0001-5208-3432 @@ -255830,18 +257184,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Single damaged nerve - A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Single damaged nerve + + A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. + HPO:probinson + + + @@ -255882,18 +257236,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost finger bone - Any anomaly of distal phalanx of finger. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Abnormality of the outermost finger bone + ORCID:0000-0001-5208-3432 + + Any anomaly of distal phalanx of finger. + HPO:probinson + + + @@ -255931,8 +257285,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the middle finger bones of the hand + ORCID:0000-0001-5208-3432 Abnormality of the middle finger bones of the hand - orcid.org/0000-0001-5208-3432 @@ -255980,7 +257334,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the innermost finger bones of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -256035,15 +257389,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small outermost finger bone of the hand - orcid.org/0000-0001-5208-3432 Absent/small outermost finger bone of the hand - - - - - - Absent/underdeveloped outermost finger bone of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -256054,6 +257401,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Absent/underdeveloped outermost finger bone of the hand + + + + HPO:skoehler Small or absent distal phalanges @@ -256116,7 +257470,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad outermost finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -256159,8 +257513,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped outermost finger bone of the hand - orcid.org/0000-0001-5208-3432 Bullet-shaped outermost finger bone of the hand + ORCID:0000-0001-5208-3432 @@ -256203,7 +257557,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved outermost finger bone of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved outermost finger bone of the hand @@ -256251,7 +257605,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Osteolytic defects of the outermost finger bone of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -256309,18 +257663,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in outermost finger bone - HPO:probinson - Uneven (irregular) increase in bone density of the distal phalanges of the hand. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in outermost finger bone + + HPO:probinson + Uneven (irregular) increase in bone density of the distal phalanges of the hand. + + + @@ -256368,15 +257722,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped middle finger bone of the hand - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle finger bone of the hand + Absent/small middle finger bone of the hand + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/small middle finger bone of the hand + Absent/underdeveloped middle finger bone of the hand + ORCID:0000-0001-5208-3432 @@ -256421,7 +257775,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad middle finger bones - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Broad middle finger bones @@ -256478,8 +257832,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-6908-9849 Bullet-shaped middle finger bones + ORCID:0000-0001-6908-9849 @@ -256522,7 +257876,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved middle finger bonds of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved middle finger bonds of the hand @@ -256624,8 +257978,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the middle finger bones of the hand + ORCID:0000-0001-5208-3432 @@ -256656,7 +258010,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused middle finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -256699,7 +258053,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped middle finger bones of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped middle finger bones of the hand @@ -256743,15 +258097,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small innermost finger bones of the hand + ORCID:0000-0001-5208-3432 Absent/underdeveloped innermost finger bones of the hand - orcid.org/0000-0001-5208-3432 Absent/small innermost finger bones of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -256796,25 +258150,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad innermost finger bones of the hand + HPO:probinson + Increased width of the proximal phalanges of the finger. + + + + + ORCID:0000-0001-5208-3432 Broad innermost finger bones of the hand - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Wide innermost finger bones of the hand + ORCID:0000-0001-5208-3432 - - HPO:probinson - Increased width of the proximal phalanges of the finger. - - - @@ -256853,8 +258207,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped innermost finger bones of the hand + ORCID:0000-0001-5208-3432 Bullet-shaped innermost finger bones of the hand - orcid.org/0000-0001-5208-3432 @@ -256897,8 +258251,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved innermost finger bones of the hand - orcid.org/0000-0001-5208-3432 Curved innermost finger bones of the hand + ORCID:0000-0001-5208-3432 @@ -256975,8 +258329,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in innermost finger bone + ORCID:0000-0001-5208-3432 Uneven increase in bone density in innermost finger bone - orcid.org/0000-0001-5208-3432 @@ -257005,7 +258359,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused innermost hand bones @@ -257029,8 +258383,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped innermost finger bone + ORCID:0000-0001-5208-3432 Triangular shaped innermost finger bone - orcid.org/0000-0001-5208-3432 @@ -257074,7 +258428,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped outermost bone of the hand - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Triangular shaped outermost bone of the hand @@ -257117,16 +258471,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Simplified gyral pattern - An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex. - HPO:curators + HPO:skoehler + Simplified gyral pattern - + - Simplified gyral pattern - HPO:skoehler + An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex. + HPO:curators - + @@ -257146,7 +258500,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad outermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad outermost hand bones @@ -257198,20 +258552,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Aplasia of outermost hand bone - orcid.org/0000-0001-5208-3432 - Absent distal phalanges of the hand + ORCID:0000-0001-5208-3432 + Aplasia of outermost hand bone - Aplasia of outermost hand bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent distal phalanges of the hand + ORCID:0000-0001-5208-3432 Absent outermost hand bone - orcid.org/0000-0001-5208-3432 @@ -257276,7 +258630,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short outermost finger bone @@ -257325,15 +258679,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Notched outermost bone of hand - orcid.org/0000-0001-5208-3432 - Notched outermost bone of hand + ORCID:0000-0001-5208-3432 + Duplication of the outermost bone of hand - orcid.org/0000-0001-5208-3432 - Duplication of the outermost bone of hand + ORCID:0000-0001-5208-3432 + Notched outermost bone of hand @@ -257384,8 +258738,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Tapered outermost finger bone + ORCID:0000-0001-5208-3432 Tapered outermost finger bone - orcid.org/0000-0001-5208-3432 @@ -257477,12 +258831,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormality of hair color - - An abnormality of hair pigmentation (color). - HPO:curators - - - Abnormality of hair pigmentation @@ -257491,11 +258839,17 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of hair color - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + An abnormality of hair pigmentation (color). + HPO:curators + + + @@ -257512,18 +258866,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. - HPO:curators - - - Abnormality of secondary sexual hair + + Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. + HPO:curators + + + @@ -257568,7 +258922,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Localized abnormal hair growth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -257654,21 +259008,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Flatness of the supraorbital portion of the frontal bones. - HPO:curators - pmid:19125436 - - - - + ORCID:0000-0001-5889-4463 Depressed supraorbital margins - orcid.org/0000-0001-5889-4463 - Flat supraorbital margins - orcid.org/0000-0001-5889-4463 + Hypoplasia of supraorbital margins + ORCID:0000-0001-5889-4463 @@ -257679,8 +259026,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Hypoplasia of supraorbital margins + Flatness of the supraorbital portion of the frontal bones. + HPO:curators + pmid:19125436 + + + + + Flat supraorbital margins + ORCID:0000-0001-5889-4463 @@ -257735,9 +259089,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Congenital absence of external ear - HPO:skoehler + Absent ear + @@ -257748,9 +259102,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent ear + Congenital absence of external ear + HPO:skoehler - @@ -257886,18 +259240,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. - HPO:probinson - - - true + + An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. + HPO:probinson + + + @@ -258103,19 +259457,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Deafness in one ear - - Deafness in one ear - orcid.org/0000-0001-5208-3432 - - - - A unilateral absence of sensory perception of sound. HPO:probinson + + Deafness in one ear + ORCID:0000-0001-5208-3432 + + + + @@ -258134,18 +259488,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter - - Crumpled ear - - - - Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. pmid:19152421 + + Crumpled ear + + + + @@ -258338,15 +259692,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped ear lobes - Absent/underdeveloped ear lobes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small ear lobes - orcid.org/0000-0001-5208-3432 - Absent/small ear lobes + ORCID:0000-0001-5208-3432 + Absent/underdeveloped ear lobes @@ -258445,30 +259799,29 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. - HPO:probinson - pmid:19152421 + HPO:skoehler + Uplifted earlobes - + + - Upturned earlobe + Lobe, uplifted - Uplifted earlobe + Upturned earlobe - HPO:skoehler - Uplifted earlobes + Uplifted earlobe - + HPO:skoehler @@ -258478,10 +259831,11 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Lobe, uplifted + An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. + HPO:probinson + pmid:19152421 - - + @@ -258527,8 +259881,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Absent middle ear bones - http://orcid.org/0000-0001-5208-3432 @@ -258655,24 +260009,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped tragus - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped tragus + Aplasia or developmental hypoplasia of the tragus. + HPO:probinson - - + - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small tragus - Aplasia or developmental hypoplasia of the tragus. - HPO:probinson + ORCID:0000-0001-5208-3432 + Absent/underdeveloped tragus - + + @@ -258695,9 +260049,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. + DDD:ncarter + + + + + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 Cyclops eye - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 @@ -258708,12 +260068,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. - DDD:ncarter - - - @@ -258787,26 +260141,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Asymmetric pupil sizes + Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. + HPO:probinson - - + - Asymmetry of the pupils + ORCID:0000-0001-5208-3432 + Unequal pupil size - Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. - HPO:probinson + Asymmetry of the pupils - + + - orcid.org/0000-0001-5208-3432 - Unequal pupil size + Asymmetric pupil sizes @@ -258875,6 +260229,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Displaced pupil + + ORCID:0000-0001-5208-3432 + Displaced pupil + + + + A malposition of the pupil owing to a developmental defect of the iris. DDD:gblack @@ -258882,13 +260243,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Displaced pupil - orcid.org/0000-0001-5208-3432 - - - - @@ -258934,18 +260288,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Retina tumor - A tumor of the eye originating from cells of the retina. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Retina tumor - orcid.org/0000-0001-5208-3432 + + A tumor of the eye originating from cells of the retina. + HPO:curators + + + @@ -258969,16 +260323,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Congenital melanosis bulbi - Naevus fuscoceruleus ophthalmomaxillaris + A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera. + PMID:14673306 - - + - A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera. - PMID:14673306 + Naevus fuscoceruleus ophthalmomaxillaris - + + @@ -259005,9 +260359,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Limited eye motility from Duane anomaly - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Limited eye movement from Duane anomaly @@ -259018,9 +260372,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - Limited eye movement from Duane anomaly + Limited eye motility from Duane anomaly + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 @@ -259091,38 +260445,38 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Hypoplasia of the nose Decreased size of nose - - HPO:curators - Underdevelopment or absence of the nose or parts thereof. - - - Hypoplasia of the nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased size of nose + ORCID:0000-0001-5889-4463 + Decreased nasal size - Hypotrophic nose - orcid.org/0000-0001-5889-4463 + HPO:curators + Underdevelopment or absence of the nose or parts thereof. - + - Decreased nasal size - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased size of nose + + ORCID:0000-0001-5889-4463 + Hypotrophic nose + + + @@ -259153,7 +260507,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy DDD:ncarter HPO:probinson PMID:28003974 - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -259221,8 +260575,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 Failure of development of nose + ORCID:0000-0001-5889-4463 @@ -259235,20 +260589,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Nasal underdevelopment - - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of nose @@ -259260,6 +260607,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5889-4463 + Nasal underdevelopment + + + + @@ -259345,10 +260699,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Malformation of the columella - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + Anomaly of the columella + ORCID:0000-0001-5889-4463 + + + An abnormality of the columella. HPO:curators @@ -259356,17 +260716,11 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 Deformity of the columella + ORCID:0000-0001-5889-4463 - - Anomaly of the columella - orcid.org/0000-0001-5889-4463 - - - @@ -259410,49 +260764,49 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Crooked nostrils + Asymmetry or size difference between the left and right nostril. + HPO:probinson - - + - Asymmetry of nostrils - orcid.org/0000-0001-5889-4463 + Uneven nostril shape + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Unequal nostril size - orcid.org/0000-0001-5889-4463 - Unequal nostril shape - orcid.org/0000-0001-5889-4463 + Crooked nostrils + ORCID:0000-0001-5889-4463 - Uneven nostril size - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Unequal nostril shape - Asymmetry or size difference between the left and right nostril. - HPO:probinson + ORCID:0000-0001-5889-4463 + Asymmetry of nostrils - + + - orcid.org/0000-0001-5889-4463 - Uneven nostril shape + ORCID:0000-0001-5889-4463 + Uneven nostril size @@ -259508,62 +260862,62 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Increased aperture of the nostril. - pmid:19152422 - - - - - orcid.org/0000-0001-5889-4463 - Wide nares + ORCID:0000-0001-5889-4463 + Dilated nostril Wide nostril - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Broad nostril + Wide nares + ORCID:0000-0001-5889-4463 Increased diameter of nostril - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Enlarged nostril - orcid.org/0000-0001-5889-4463 + Dilated nares + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Dilated nostril + Increased aperture of the nostril. + pmid:19152422 + + + + + Enlarged nostril + ORCID:0000-0001-5889-4463 - Dilated nares - orcid.org/0000-0001-5889-4463 + Enlarged nares + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Enlarged nares + ORCID:0000-0001-5889-4463 + Broad nostril + @@ -259619,14 +260973,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Single nare - - - - - orcid.org/0000-0001-5889-4463 - One nostril + Mono nostril + ORCID:0000-0001-5889-4463 @@ -259637,6 +260985,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5889-4463 + Single nare + + + Single nostril @@ -259644,8 +260998,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Mono nostril + ORCID:0000-0001-5889-4463 + One nostril @@ -259701,15 +261055,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Collapsed nostrils - - - - - - orcid.org/0000-0001-5889-4463 - Small nostrils + ORCID:0000-0001-5889-4463 + Narrow nostrils @@ -259721,32 +261068,39 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Slit-like nostrils + ORCID:0000-0001-5889-4463 + Small nostrils - Narrow nares - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Thin nostrils + - orcid.org/0000-0001-5889-4463 - Thin nostrils + Collapsed nostrils + ORCID:0000-0001-5889-4463 - + - Narrow nostrils - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Slit-like nostrils + + Narrow nares + ORCID:0000-0001-5889-4463 + + + @@ -259789,33 +261143,33 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Supernumerary nares + The presence of more than two nostrils. + pmid:19152422 - + + ORCID:0000-0001-5889-4463 Extra nostril - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Accessory nostril - orcid.org/0000-0001-5889-4463 - The presence of more than two nostrils. - pmid:19152422 + Accessory nares + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Accessory nares + ORCID:0000-0001-5889-4463 + Supernumerary nares @@ -259859,30 +261213,30 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdevelopment of nasal septum - Ageneis of nasal septum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of nasal septum + + ORCID:0000-0001-5889-4463 Failure of development of nasal septum - orcid.org/0000-0001-5889-4463 - Absence or underdevelopment of the nasal septum. - HPO:curators + ORCID:0000-0001-5889-4463 + Ageneis of nasal septum - + - orcid.org/0000-0001-5889-4463 - Underdevelopment of nasal septum + Absence or underdevelopment of the nasal septum. + HPO:curators - - + @@ -259926,25 +261280,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Thin septum of nose + Decreased width of nasal septum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Thin nasal septum + Thin septum of nose + ORCID:0000-0001-5889-4463 - Narrow septum of nose - orcid.org/0000-0001-5889-4463 + Abnormally narrow nasal septum. + HPO:probinson - - + Narrow nasal septum @@ -259953,17 +261306,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Decreased width of nasal septum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Thin nasal septum - Abnormally narrow nasal septum. - HPO:probinson + Narrow septum of nose + ORCID:0000-0001-5889-4463 - + + @@ -260002,19 +261356,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Excessive face hair - - Excessive face hair - orcid.org/0000-0001-5208-3432 - - - - Excess facial hair. HPO:curators + + Excessive face hair + ORCID:0000-0001-5208-3432 + + + + @@ -260054,12 +261408,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Depressed cheeks - - Lack or loss of the soft tissues between the zygomata and mandible. - pmid:19125436 - - - Sunken cheeks @@ -260067,13 +261415,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Hollow cheeks + Depressed cheeks - Depressed cheeks + Lack or loss of the soft tissues between the zygomata and mandible. + pmid:19125436 + + + + + Hollow cheeks @@ -260129,23 +261483,17 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of mandible - orcid.org/0000-0001-5889-4463 - Absence of lower jaw bones + Failure of development of lower jaw + ORCID:0000-0001-5889-4463 - - - - Agnathia - orcid.org/0000-0001-5889-4463 - - + Absence of the mandible. @@ -260154,31 +261502,37 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Missing lower jaw + ORCID:0000-0001-5889-4463 + Absence of lower jaw bones - + - orcid.org/0000-0001-5889-4463 - Aplasia of the lower jaw bone + ORCID:0000-0001-5889-4463 + Agenesis of the mandible - orcid.org/0000-0001-5889-4463 - Agenesis of the mandible + Missing lower jaw + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Failure of development of lower jaw + Aplasia of the lower jaw bone + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 + Agnathia + + + @@ -260231,65 +261585,65 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Asymmetry of lower jaw + Lower jaw shifted to one side + Uneven mandible + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 Tilted mandible - orcid.org/0000-0001-5889-4463 Uneven lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Canted lower jaw + ORCID:0000-0001-5889-4463 + Canted mandible - Lower jaw shifted to one side + Asymmetry of lower jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deviation of the mandible - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deviation of the lower jaw - orcid.org/0000-0001-5889-4463 - Canted mandible - - - - - Crooked lower jaw - orcid.org/0000-0001-5889-4463 + Tilted lower jaw + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Uneven mandible + Canted lower jaw + ORCID:0000-0001-5889-4463 @@ -260300,8 +261654,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Tilted lower jaw + ORCID:0000-0001-5889-4463 + Crooked lower jaw @@ -260350,45 +261704,45 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Crooked mouth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Tilted mouth + Asymmetry of the mouth - Canted mouth - orcid.org/0000-0001-5889-4463 + HPO:probinson + The presence of an asymmetric mouth. + + + + + Uneven mouth + ORCID:0000-0001-5889-4463 + Asymmetry of oral cavity - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Asymmetry of the mouth + ORCID:0000-0001-5889-4463 + Canted mouth - - HPO:probinson - The presence of an asymmetric mouth. - - - - - Uneven mouth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Tilted mouth @@ -260427,18 +261781,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplicated thumbs - - HPO:skoehler - Duplicated thumbs - - - Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HPO:sdoelken + + HPO:skoehler + Duplicated thumbs + + + @@ -260482,7 +261836,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of thumb bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of thumb bones @@ -260537,8 +261891,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the thumb bones + ORCID:0000-0001-5208-3432 Partial duplication of the thumb bones - orcid.org/0000-0001-5208-3432 @@ -260580,19 +261934,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplication of the bones of index finger - - Duplication of the bones of index finger - orcid.org/0000-0001-5208-3432 - - - - HPO:curators This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. + + Duplication of the bones of index finger + ORCID:0000-0001-5208-3432 + + + + @@ -260641,7 +261995,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Extra index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -260717,7 +262071,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial/complete duplication of the outermost bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial/complete duplication of the outermost bone of the index finger @@ -260768,7 +262122,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial/complete duplication of the middle bones of the index finger @@ -260813,7 +262167,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the outermost bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the outermost bone of the index finger @@ -260846,24 +262200,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Notched outermost bone of the index finger - Notched outermost bone of the index finger - orcid.org/0000-0001-5208-3432 + HPO:sdoelken + Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. - - + Partial duplication of the outermost bone of the 2nd finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - HPO:sdoelken - Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. + Notched outermost bone of the index finger + ORCID:0000-0001-5208-3432 - + + @@ -260904,8 +262258,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the middle bone of the index finger - orcid.org/0000-0001-5208-3432 Complete duplication of the middle bone of the index finger + ORCID:0000-0001-5208-3432 @@ -260934,19 +262288,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the middle bone of the index finger - - orcid.org/0000-0001-5208-3432 - Partial duplication of the middle bone of the index finger - - - - HPO:sdoelken Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. + + ORCID:0000-0001-5208-3432 + Partial duplication of the middle bone of the index finger + + + + @@ -260985,19 +262339,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Complete duplication of the proximal bone of the index finger - - Complete duplication of the Second proximal phalanx of hand. - HPO:probinson - - - Complete duplication of the proximal bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Complete duplication of the Second proximal phalanx of hand. + HPO:probinson + + + @@ -261017,18 +262371,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the proximal bones of the index finger - HPO:sdoelken - Partial duplication of the Second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial duplication of the proximal bones of the index finger + + HPO:sdoelken + Partial duplication of the Second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. + + + @@ -261046,19 +262400,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the bones of the index finger - - Partial duplication of the bones of the index finger - orcid.org/0000-0001-5208-3432 - - - - A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. HPO:curators + + ORCID:0000-0001-5208-3432 + Partial duplication of the bones of the index finger + + + + @@ -261097,18 +262451,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the bones of the index finger - A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Complete duplication of the bones of the index finger + ORCID:0000-0001-5208-3432 + + A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism. + HPO:curators + + + @@ -261156,8 +262510,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Extra middle finger + ORCID:0000-0001-5208-3432 Extra middle finger - orcid.org/0000-0001-5208-3432 @@ -261193,19 +262547,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplication of middle finger bone - - orcid.org/0000-0001-5208-3432 - Duplication of middle finger bone - - - - HPO:sdoelken This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. + + ORCID:0000-0001-5208-3432 + Duplication of middle finger bone + + + + @@ -261244,8 +262598,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of middle finger bones - orcid.org/0000-0001-5208-3432 Complete duplication of middle finger bones + ORCID:0000-0001-5208-3432 @@ -261273,19 +262627,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of middle finger bones - - orcid.org/0000-0001-5208-3432 - Partial duplication of middle finger bones - - - - A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. HPO:curators + + Partial duplication of middle finger bones + ORCID:0000-0001-5208-3432 + + + + @@ -261319,18 +262673,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial/complete duplication of the outermost bone of the middle finger - HPO:probinson - Partial or complete duplication of the distal phalanx of middle finger. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial/complete duplication of the outermost bone of the middle finger + + HPO:probinson + Partial or complete duplication of the distal phalanx of middle finger. + + + @@ -261363,19 +262717,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplication of the middle bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Duplication of the middle bone of the middle finger - - - - HPO:probinson Partial or complete duplication of the middle phalanx of middle finger. + + Duplication of the middle bone of the middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -261408,19 +262762,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplication of the proximal bone of the middle finger - - Duplication of the proximal bone of the middle finger - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Partial or complete duplication of the third proximal phalanx of hand. + + ORCID:0000-0001-5208-3432 + Duplication of the proximal bone of the middle finger + + + + @@ -261459,19 +262813,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Complete duplication of the outermost bone of the 3rd finger - - Complete duplication of the outermost bone of the 3rd finger - orcid.org/0000-0001-5208-3432 - - - - Complete duplication of the distal phalanx of middle finger HPO:probinson + + Complete duplication of the outermost bone of the 3rd finger + ORCID:0000-0001-5208-3432 + + + + @@ -261510,19 +262864,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Complete duplication of the middle bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Complete duplication of the middle bone of the middle finger - - - - Complete duplication of the middle phalanx of middle finger. HPO:probinson + + Complete duplication of the middle bone of the middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -261562,18 +262916,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the innermost bone of the 3rd finger - Complete duplication of the third proximal phalanx of hand. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Complete duplication of the innermost bone of the 3rd finger + ORCID:0000-0001-5208-3432 + + Complete duplication of the third proximal phalanx of hand. + HPO:probinson + + + @@ -261602,14 +262956,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Notched outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial duplication of the outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -261632,19 +262986,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the middle bone of the 3rd finger - - Partial duplication of the middle bone of the 3rd finger - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. + + ORCID:0000-0001-5208-3432 + Partial duplication of the middle bone of the 3rd finger + + + + @@ -261663,19 +263017,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the proximal bone of the middle finger - - orcid.org/0000-0001-5208-3432 - Partial duplication of the proximal bone of the middle finger - - - - HPO:sdoelken Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. + + Partial duplication of the proximal bone of the middle finger + ORCID:0000-0001-5208-3432 + + + + @@ -261723,8 +263077,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Extra ring finger - orcid.org/0000-0001-5208-3432 Extra ring finger + ORCID:0000-0001-5208-3432 @@ -261767,7 +263121,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of bones of the ring finger @@ -261811,8 +263165,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the bones of the ring finger + ORCID:0000-0001-5208-3432 Complete duplication of the bones of the ring finger - orcid.org/0000-0001-5208-3432 @@ -261848,7 +263202,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the bones of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -261886,18 +263240,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial/complete duplication of the outermost bone of the ring finger - HPO:probinson - Partial or complete duplication of the distal phalanx of ring finger. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial/complete duplication of the outermost bone of the ring finger + + HPO:probinson + Partial or complete duplication of the distal phalanx of ring finger. + + + @@ -261937,8 +263291,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Partial/complete duplication of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 @@ -261976,7 +263330,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the proximal bone of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the proximal bone of the ring finger @@ -262033,7 +263387,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the outermost bone of the ring finger @@ -262078,8 +263432,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 Complete duplication of the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 @@ -262136,7 +263490,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the proximal bone of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -262162,7 +263516,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Notched outermost bone of the ring finger - orcid.org/0000-0001-5208-3432 + Notched outermost bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 Partial duplication of the outermost bone of the ring finger @@ -262174,13 +263535,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Notched outermost bone of the ring finger - orcid.org/0000-0001-5208-3432 - - - - @@ -262199,19 +263553,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the middle bone of the ring finger - - Partial duplication of the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. + + Partial duplication of the middle bone of the ring finger + ORCID:0000-0001-5208-3432 + + + + @@ -262230,19 +263584,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the innermost bone of the ring finger - - HPO:sdoelken - Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. - - - Partial duplication of the innermost bone of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. + + + @@ -262277,31 +263631,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial/complete duplication of pinky finger bone - orcid.org/0000-0001-5208-3432 - Partial/complete duplication of pinky finger bone + ORCID:0000-0001-5208-3432 + Partial/complete duplication of little finger bone - orcid.org/0000-0001-5208-3432 - Partial/complete duplication of little finger bone + HPO:sdoelken + This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. - - + - orcid.org/0000-0001-5208-3432 Partial/complete duplication of pinkie finger bone + ORCID:0000-0001-5208-3432 - HPO:sdoelken - This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. + ORCID:0000-0001-5208-3432 + Partial/complete duplication of pinky finger bone - + + @@ -262343,15 +263697,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the little finger bone - orcid.org/0000-0001-5208-3432 - Complete duplication of the little finger bone + Complete duplication of the pinkie finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Complete duplication of the pinkie finger bone + ORCID:0000-0001-5208-3432 + Complete duplication of the little finger bone @@ -262363,8 +263717,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Complete duplication of the pinky finger bone + ORCID:0000-0001-5208-3432 @@ -262390,7 +263744,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the little finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + + + + + Partial duplication of the pinky finger bone + ORCID:0000-0001-5208-3432 @@ -262402,15 +263763,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Partial duplication of the pinkie finger bone - - - - - - orcid.org/0000-0001-5208-3432 - Partial duplication of the pinky finger bone + ORCID:0000-0001-5208-3432 @@ -262450,15 +263804,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the outermost pinky finger bone - orcid.org/0000-0001-5208-3432 Duplication of the outermost pinkie finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Duplication of the outermost pinky finger bone + ORCID:0000-0001-5208-3432 @@ -262470,7 +263824,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the outermost little finger bone @@ -262511,31 +263865,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the middle pinkie finger bone - HPO:probinson - Partial or complete duplication of the fifth middle phalanx of hand. + ORCID:0000-0001-5208-3432 + Duplication of the middle little finger bone - + + - Duplication of the middle little finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Duplication of the middle pinkie finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the middle pinky finger bone - Duplication of the middle pinkie finger bone - orcid.org/0000-0001-5208-3432 + HPO:probinson + Partial or complete duplication of the fifth middle phalanx of hand. - - + @@ -262572,32 +263926,32 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the innermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the innermost pinky finger bone + HPO:probinson + Partial or complete duplication of the fifth proximal phalanx of hand. + + + + + ORCID:0000-0001-5208-3432 Duplication of the innermost little finger bone - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Duplication of the innermost pinkie finger bone + ORCID:0000-0001-5208-3432 - - HPO:probinson - Partial or complete duplication of the fifth proximal phalanx of hand. - - - @@ -262639,32 +263993,32 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the outermost pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the outermost little finger bone + + Complete duplication of the distal phalanx of little finger. + HPO:probinson + + + Complete duplication of the outermost pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the outermost pinkie finger bone - - Complete duplication of the distal phalanx of little finger. - HPO:probinson - - - @@ -262705,13 +264059,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the middle pinky finger bone Complete duplication of the middle pinkie finger bone - - orcid.org/0000-0001-5208-3432 - Complete duplication of the middle pinkie finger bone - - - - Complete duplication of the fifth middle phalanx of hand. HPO:probinson @@ -262719,15 +264066,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Complete duplication of the middle little finger bone + Complete duplication of the middle pinky finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Complete duplication of the middle pinky finger bone + Complete duplication of the middle pinkie finger bone + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Complete duplication of the middle little finger bone @@ -262773,31 +264127,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the innermost little finger bone - orcid.org/0000-0001-5208-3432 - Complete duplication of the innermost pinkie finger bone + Complete duplication of the fifth proximal phalanx of hand. + HPO:probinson - - + - Complete duplication of the innermost pinky finger bone - orcid.org/0000-0001-5208-3432 + Complete duplication of the innermost pinkie finger bone + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the innermost little finger bone - orcid.org/0000-0001-5208-3432 - Complete duplication of the fifth proximal phalanx of hand. - HPO:probinson + Complete duplication of the innermost pinky finger bone + ORCID:0000-0001-5208-3432 - + + @@ -262822,15 +264176,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of outermost little finger bone - orcid.org/0000-0001-5208-3432 - Partial duplication of outermost pinkie finger bone + ORCID:0000-0001-5208-3432 + Notched outermost pinky finger bone - orcid.org/0000-0001-5208-3432 - Partial duplication of outermost little finger bone + Partial duplication of outermost pinkie finger bone + ORCID:0000-0001-5208-3432 @@ -262842,15 +264196,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Notched outermost pinky finger bone + ORCID:0000-0001-5208-3432 + Partial duplication of outermost pinky finger bone - orcid.org/0000-0001-5208-3432 - Partial duplication of outermost pinky finger bone + Partial duplication of outermost little finger bone + ORCID:0000-0001-5208-3432 @@ -262876,32 +264230,32 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the middle pinkie finger bone - HPO:sdoelken - Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. - - - - - Partial duplication of the middle pinky finger bone - http://orcid.org/0000-0001-5208-3432 + Partial duplication of the middle little finger bone + ORCID:0000-0001-5208-3432 Partial duplication of the middle pinkie finger bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 - Partial duplication of the middle little finger bone + Partial duplication of the middle pinky finger bone + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. + + + @@ -262923,15 +264277,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the innermost little finger bone - http://orcid.org/0000-0001-5208-3432 - Partial duplication of the innermost pinkie finger bone - - - - - - http://orcid.org/0000-0001-5208-3432 - Partial duplication of the innermost little finger bone + Partial duplication of the innermost pinky finger bone + ORCID:0000-0001-5208-3432 @@ -262943,8 +264290,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Partial duplication of the innermost pinky finger bone - http://orcid.org/0000-0001-5208-3432 + Partial duplication of the innermost pinkie finger bone + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Partial duplication of the innermost little finger bone @@ -263036,7 +264390,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -263057,19 +264411,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of hand bones - - A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. - HPO:curators - - - Partial duplication of hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. + HPO:curators + + + @@ -263115,7 +264469,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the innermost bones of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -263160,7 +264514,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the outermost bones of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -263209,18 +264563,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the middle bones of the hand - A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. - HPO:sdoelken - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the middle bones of the hand + + A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. + HPO:sdoelken + + + @@ -263239,7 +264593,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the innermost bones of the hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial duplication of the innermost bones of the hand @@ -263277,8 +264631,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Partial duplication of the outermost bone of the hand + ORCID:0000-0001-5208-3432 @@ -263302,7 +264656,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the middle bones of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -263351,7 +264705,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the innermost bones of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -263389,18 +264743,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the middle bones of hand - HPO:sdoelken - This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the middle bones of hand + + HPO:sdoelken + This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. + + + @@ -263439,18 +264793,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the 1st long bone of hand - A structural anomaly of the first metacarpal. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Abnormality of the 1st long bone of hand - orcid.org/0000-0001-5208-3432 + + A structural anomaly of the first metacarpal. + HPO:probinson + + + @@ -263495,7 +264849,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the 2nd long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -263537,7 +264891,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the 3rd long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the 3rd long bone of hand @@ -263585,19 +264939,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Abnormality of the 4th long bone of hand - - orcid.org/0000-0001-5208-3432 - Abnormality of the 4th long bone of hand - - - - Any abnormality of the fourth metacarpal bone. HPO:curators + + ORCID:0000-0001-5208-3432 + Abnormality of the 4th long bone of hand + + + + @@ -263634,19 +264988,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Abnormality of the 5th long bone of hand - - Abnormality of the 5th long bone of hand - orcid.org/0000-0001-5208-3432 - - - - Any abnormality of the fifth metacarpal bone. HPO:curators + + ORCID:0000-0001-5208-3432 + Abnormality of the 5th long bone of hand + + + + @@ -263702,7 +265056,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the 1st long bone of hand @@ -263756,7 +265110,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the 1st long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the 1st long bone of hand @@ -263800,6 +265154,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bracket shaped end part of 1st long bone of hand + + Bracket shaped end part of 1st long bone of hand + ORCID:0000-0001-5208-3432 + + + + An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. HPO:probinson @@ -263807,13 +265168,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - orcid.org/0000-0001-5208-3432 - Bracket shaped end part of 1st long bone of hand - - - - @@ -263853,7 +265207,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the 1st long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the 1st long bone of hand @@ -263903,19 +265257,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of the 1st long bone of hand - - orcid.org/0000-0001-5208-3432 - Enlarged end part of the 1st long bone of hand - - - - Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. HPO:probinson + + ORCID:0000-0001-5208-3432 + Enlarged end part of the 1st long bone of hand + + + + @@ -263955,18 +265309,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the 1st long bone of hand - Epiphysis of the 1st metacarpal having multiple bony fragments. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the 1st long bone of hand + + Epiphysis of the 1st metacarpal having multiple bony fragments. + HPO:probinson + + + @@ -264005,19 +265359,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Irregular end part of the 1st long bone of hand - - orcid.org/0000-0001-5208-3432 - Irregular end part of the 1st long bone of hand - - - - HPO:probinson Uneven radiographic opacity of the epiphysis of the 1st metacarpal. + + Irregular end part of the 1st long bone of hand + ORCID:0000-0001-5208-3432 + + + + @@ -264057,18 +265411,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the 1st long bone of hand - HPO:probinson - The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. - - - - + ORCID:0000-0001-5208-3432 Increased bone density of end part of the 1st long bone of hand - orcid.org/0000-0001-5208-3432 + + HPO:probinson + The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. + + + @@ -264162,18 +265516,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the 1st long bone of hand - Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the 1st long bone of hand + + Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. + HPO:probinson + + + @@ -264214,8 +265568,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in the end part of the first long bone of hand - orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the first long bone of hand + ORCID:0000-0001-5208-3432 @@ -264264,8 +265618,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the 1st long bone of hand + ORCID:0000-0001-5208-3432 Triangular end part of the 1st long bone of hand - orcid.org/0000-0001-5208-3432 @@ -264310,24 +265664,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small 1st long bone of hand - Absent/underdeveloped 1st long bone of hand - orcid.org/0000-0001-5208-3432 + Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). + HPO:curators - - + - orcid.org/0000-0001-5208-3432 Absent/small 1st long bone of hand + ORCID:0000-0001-5208-3432 - Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). - HPO:curators + Absent/underdeveloped 1st long bone of hand + ORCID:0000-0001-5208-3432 - + + @@ -264368,18 +265722,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide 1st long bone of hand - HPO:curators - Increased width of the 1st metacarapal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. - - - - + ORCID:0000-0001-5208-3432 Wide 1st long bone of hand - orcid.org/0000-0001-5208-3432 + + HPO:curators + Increased width of the 1st metacarapal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + + @@ -264416,19 +265770,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped 1st long bone of hand - - Bullet-shaped 1st long bone of hand - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped"). + + ORCID:0000-0001-5208-3432 + Bullet-shaped 1st long bone of hand + + + + @@ -264472,8 +265826,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Curved 1st long bone of hand - orcid.org/0000-0001-5208-3432 @@ -264572,19 +265926,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in 1st long bone of hand - - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in 1st long bone of hand - - - - HPO:probinson Uneven increase in bone density within the 1st metacarpal. + + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in 1st long bone of hand + + + + @@ -264602,19 +265956,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Triangular shaped 1st long bone of hand - - http://orcid.org/0000-0001-5208-3432 - Triangular shaped 1st long bone of hand - - - - HPO:probinson This term applies to a triangular shaped 1st metacarpal. + + Triangular shaped 1st long bone of hand + ORCID:0000-0001-5208-3432 + + + + @@ -264664,18 +266018,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:probinson - In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. - - - - + ORCID:0000-0001-5208-3432 Shortened 1st long bone of hand - http://orcid.org/0000-0001-5208-3432 + + HPO:probinson + In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + + @@ -264717,19 +266071,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Absent 1st long bone of hand - - http://orcid.org/0000-0001-5208-3432 - Absent 1st long bone of hand - - - - HPO:curators In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + Absent 1st long bone of hand + ORCID:0000-0001-5208-3432 + + + + @@ -264768,9 +266122,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small 2nd long bone of hand Absent/underdeveloped 2nd long bone of hand + + ORCID:0000-0001-5208-3432 + Absent/small 2nd long bone of hand + + + + Absent/underdeveloped 2nd long bone of hand - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -264781,13 +266142,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - http://orcid.org/0000-0001-5208-3432 - Absent/small 2nd long bone of hand - - - - @@ -264825,8 +266179,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent 2nd long bone of hand - http://orcid.org/0000-0001-5208-3432 Absent 2nd long bone of hand + ORCID:0000-0001-5208-3432 @@ -264874,7 +266228,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Shortened 2nd long bone of hand - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -264924,24 +266278,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped 3rd long bone of hand - Aplasia or Hypoplasia affecting the 3rd metacarpal. - HPO:curators + ORCID:0000-0001-5208-3432 + Absent/small 3rd long bone of hand - + + - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped 3rd long bone of hand - Absent/small 3rd long bone of hand - http://orcid.org/0000-0001-5208-3432 + Aplasia or Hypoplasia affecting the 3rd metacarpal. + HPO:curators - - + @@ -264980,7 +266334,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent 3rd long bone of hand - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent 3rd long bone of hand @@ -265030,18 +266384,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Shortened 3rd long bone of hand - HPO:probinson - Short third metacarpal bone. - - - - + ORCID:0000-0001-5208-3432 Shortened 3rd long bone of hand - http://orcid.org/0000-0001-5208-3432 + + HPO:probinson + Short third metacarpal bone. + + + @@ -265081,8 +266435,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped 4th long bone of hand - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped 4th long bone of hand + ORCID:0000-0001-5208-3432 + Absent/small 4th long bone of hand @@ -265094,8 +266448,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent/small 4th long bone of hand - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped 4th long bone of hand @@ -265137,8 +266491,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent 4th long bone of hand - http://orcid.org/0000-0001-5208-3432 Absent 4th long bone of hand + ORCID:0000-0001-5208-3432 @@ -265185,8 +266539,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Shortened 4th long bone of hand + ORCID:0000-0001-5208-3432 Shortened 4th long bone of hand - http://orcid.org/0000-0001-5208-3432 @@ -265236,24 +266590,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped 5th long bone of hand - http://orcid.org/0000-0001-5208-3432 - Absent/small 5th long bone of hand + Aplasia or Hypoplasia affecting the 5th metacarpal. + HPO:curators - - + + ORCID:0000-0001-5208-3432 Absent/underdeveloped 5th long bone of hand - http://orcid.org/0000-0001-5208-3432 - Aplasia or Hypoplasia affecting the 5th metacarpal. - HPO:curators + Absent/small 5th long bone of hand + ORCID:0000-0001-5208-3432 - + + @@ -265295,7 +266649,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent 5th long bone of hand - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -265344,19 +266698,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Shortened 5th long bone of hand - - Shortened 5th long bone of hand - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Short fifth metacarpal bone. + + Shortened 5th long bone of hand + ORCID:0000-0001-5208-3432 + + + + @@ -265404,7 +266758,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent long bone of hand @@ -265461,12 +266815,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Shortened long bone of hand - - Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. - pmid:19125433 - - - HPO:skoehler Short metacarpal bones @@ -265474,7 +266822,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. + pmid:19125433 + + + + + ORCID:0000-0001-5208-3432 Shortened long bone of hand @@ -265520,18 +266874,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Displacement of the hallux - Displacement of the big toe from its normal position. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Displacement of big toe - orcid.org/0000-0001-5208-3432 + + Displacement of the big toe from its normal position. + HPO:curators + + + @@ -265569,19 +266923,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Abnormal innermost big toe bone - - Abnormal innermost big toe bone - orcid.org/0000-0001-5208-3432 - - - - HPO:curators In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. + + Abnormal innermost big toe bone + ORCID:0000-0001-5208-3432 + + + + @@ -265619,7 +266973,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of the big toe @@ -265669,7 +267023,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the 1st long bone of foot @@ -265724,8 +267078,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Broad big toe + Broad halluces + HPO:skoehler + + + + + ORCID:0000-0001-5208-3432 + Wide big toe @@ -265737,14 +267097,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:skoehler - Broad halluces - - - - - orcid.org/0000-0001-5208-3432 - Wide big toe + ORCID:0000-0001-5208-3432 + Broad big toe @@ -265797,7 +267151,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the big toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -265839,7 +267193,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal big toe bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal big toe bones @@ -265885,13 +267239,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small big toe bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped big toe bone @@ -265937,14 +267291,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide bone of big toe - Wide bone of big toe - orcid.org/0000-0001-5208-3432 - - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad bone of big toe @@ -265956,6 +267303,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Wide bone of big toe + + + + @@ -265994,19 +267348,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped bone of big toe - - Bullet-shaped bone of big toe - orcid.org/0000-0001-5208-3432 - - - - An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bullet-shaped bone of big toe + + + + @@ -266046,18 +267400,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curve bones of big toe - A deviation from the normal straight form of one or more phalanges of the big toe. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Curve bones of big toe + ORCID:0000-0001-5208-3432 + + A deviation from the normal straight form of one or more phalanges of the big toe. + HPO:probinson + + + @@ -266147,18 +267501,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in big toe bone - HPO:probinson - Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. - - - - - orcid.org/0000-0001-5208-3432 Uneven increase in bone density in big toe bone + ORCID:0000-0001-5208-3432 + + HPO:probinson + Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. + + + @@ -266204,7 +267558,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused bit toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -266246,7 +267600,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped bones of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped bones of big toe @@ -266291,19 +267645,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplication of big toe bone - - Duplication of big toe bone - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Partial or complete duplication of one or more phalanx of big toe. + + ORCID:0000-0001-5208-3432 + Duplication of big toe bone + + + + Duplication of great toes @@ -266348,15 +267702,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped 1st long bone of foot - orcid.org/0000-0001-5208-3432 Absent/underdeveloped 1st long bone of foot + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent/small 1st long bone of foot + ORCID:0000-0001-5208-3432 @@ -266410,8 +267764,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide 1st long bone of foot + ORCID:0000-0001-5208-3432 Wide 1st long bone of foot - orcid.org/0000-0001-5208-3432 @@ -266466,7 +267820,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -266508,18 +267862,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved 1st long bone of foot - A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved 1st long bone of foot + + A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. + HPO:probinson + + + @@ -266617,7 +267971,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -266662,8 +268016,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fusion involving the 1st long bone of foot - orcid.org/0000-0001-5208-3432 Fusion involving the 1st long bone of foot + ORCID:0000-0001-5208-3432 @@ -266706,7 +268060,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -266742,19 +268096,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplicated 1st long bone of foot - - orcid.org/0000-0001-5208-3432 - Duplicated 1st long bone of foot - - - - A developmental defect consisting in the duplication of the first metatarsal bone. HPO:probinson + + Duplicated 1st long bone of foot + ORCID:0000-0001-5208-3432 + + + + @@ -266794,15 +268148,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small outermost big toe bone - http://orcid.org/0000-0001-5208-3432 - Absent/small outermost big toe bone + Absent/underdeveloped outermost big toe bone + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped outermost big toe bone + ORCID:0000-0001-5208-3432 + Absent/small outermost big toe bone @@ -266848,7 +268202,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide outermost bone of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -266860,7 +268214,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad outermost bone of big toe @@ -266905,18 +268259,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped outermost bone of big toe - An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped outermost bone of big toe + + An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:probinson + + + @@ -266956,18 +268310,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved outermost bone of big toe - A deviation from the normal straight form of the distal phalanx of the big toe. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Curved outermost bone of big toe - orcid.org/0000-0001-5208-3432 + + A deviation from the normal straight form of the distal phalanx of the big toe. + HPO:probinson + + + @@ -267056,8 +268410,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the outermost bone of big toe + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the outermost bone of big toe - orcid.org/0000-0001-5208-3432 @@ -267105,7 +268459,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused outermost bone of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused outermost bone of big toe @@ -267150,7 +268504,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped outermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -267188,7 +268542,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the outermost bone of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -267232,15 +268586,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small innermost big toe bone - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped innermost big toe bone + ORCID:0000-0001-5208-3432 + Absent/small innermost big toe bone - Absent/small innermost big toe bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped innermost big toe bone @@ -267285,7 +268639,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad innermost bone of the big toe @@ -267335,19 +268689,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped innermost bone of the big toe - - Bullet-shaped innermost bone of the big toe - orcid.org/0000-0001-5208-3432 - - - - An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + Bullet-shaped innermost bone of the big toe + ORCID:0000-0001-5208-3432 + + + + @@ -267387,18 +268741,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved innermost bone of the big toe - A deviation from the normal straight form of the proximal phalanx of the big toe. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Curved innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + + A deviation from the normal straight form of the proximal phalanx of the big toe. + HPO:probinson + + + @@ -267489,7 +268843,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -267537,7 +268891,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost bone of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -267580,7 +268934,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped innermost bone of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped innermost bone of big toe @@ -267618,18 +268972,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the innermost bone of big toe - HPO:sdoelken - Partial or complete duplication of the proximal phalanx of big toe. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the innermost bone of big toe + + HPO:sdoelken + Partial or complete duplication of the proximal phalanx of big toe. + + + @@ -267674,8 +269028,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Complete duplication of the innermost bone of big toe + ORCID:0000-0001-5208-3432 @@ -267697,19 +269051,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the innermost bone of big toe - - Partial duplication of the innermost bone of big toe - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Partial duplication of the proximal phalanx of big toe. + + ORCID:0000-0001-5208-3432 + Partial duplication of the innermost bone of big toe + + + + @@ -267747,8 +269101,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 Complete duplication of the outermost bone of the big toe + ORCID:0000-0001-5208-3432 @@ -267773,15 +269127,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of the outermost bone of big toe - Notched outermost bone of big toe - orcid.org/0000-0001-5208-3432 + Partial duplication of the outermost bone of big toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Partial duplication of the outermost bone of big toe + ORCID:0000-0001-5208-3432 + Notched outermost bone of big toe @@ -267823,19 +269177,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Complete duplication of the 1st long bone of foot - - http://orcid.org/0000-0001-5208-3432 - Complete duplication of the 1st long bone of foot - - - - A developmental defect consisting in the complete duplication of the first metatarsal bone. HPO:probinson + + ORCID:0000-0001-5208-3432 + Complete duplication of the 1st long bone of foot + + + + @@ -267853,19 +269207,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the 1st long bone of foot - - http://orcid.org/0000-0001-5208-3432 - Partial duplication of the 1st long bone of foot - - - - A developmental defect consisting in the duplication of part of the first metatarsal bone. HPO:probinson + + ORCID:0000-0001-5208-3432 + Partial duplication of the 1st long bone of foot + + + + @@ -267904,7 +269258,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Complete duplication of big toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of big toe bones @@ -267934,8 +269288,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of big toe + ORCID:0000-0001-5208-3432 Partial duplication of big toe - orcid.org/0000-0001-5208-3432 @@ -267979,7 +269333,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent outermost bone of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -268025,18 +269379,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small outermost bone of big toe - HPO:probinson - Underdevelopment (hypoplasia) of the distal phalanx of big toe. - - - - - orcid.org/0000-0001-5208-3432 Small outermost bone of big toe + ORCID:0000-0001-5208-3432 + + HPO:probinson + Underdevelopment (hypoplasia) of the distal phalanx of big toe. + + + @@ -268079,7 +269433,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent 1st long bone of foot - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -268131,8 +269485,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short 1st long bone of foot + ORCID:0000-0001-5208-3432 Short 1st long bone of foot - http://orcid.org/0000-0001-5208-3432 @@ -268182,7 +269536,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent innermost bone of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -268232,7 +269586,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short innermost big toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short innermost big toe bone @@ -268290,8 +269644,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short big toe + ORCID:0000-0001-5208-3432 Short big toe - orcid.org/0000-0001-5208-3432 @@ -268339,7 +269693,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent bone of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent bone of big toe @@ -268385,23 +269739,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short bone of big toe - Hypoplastic phalanges of the hallux + HPO:probinson + Underdevelopment (hypoplasia) of a phalanx of big toe. - - + + ORCID:0000-0001-5208-3432 Short bone of big toe - orcid.org/0000-0001-5208-3432 - HPO:probinson - Underdevelopment (hypoplasia) of a phalanx of big toe. + Hypoplastic phalanges of the hallux - + + @@ -268451,18 +269805,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype - - HPO:probinson - The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. - - - Central polydactyly of feet + + HPO:probinson + The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. + + + @@ -268512,7 +269866,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of big toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of big toe bone @@ -268571,8 +269925,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of big toe bone + ORCID:0000-0001-5208-3432 Bracket shaped end part of big toe bone - orcid.org/0000-0001-5208-3432 @@ -268625,7 +269979,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the big toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -268678,7 +270032,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the big toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -268730,7 +270084,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the big toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the big toe bone @@ -268783,8 +270137,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of big toe bone - orcid.org/0000-0001-5208-3432 Irregular end part of big toe bone + ORCID:0000-0001-5208-3432 @@ -268836,8 +270190,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the big toe bone - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the big toe bone + ORCID:0000-0001-5208-3432 @@ -268924,8 +270278,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the big toe bone + ORCID:0000-0001-5208-3432 Small end part of the big toe bone - orcid.org/0000-0001-5208-3432 @@ -268977,7 +270331,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in the end part of the big toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the big toe bone @@ -269030,8 +270384,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the big toe bone + ORCID:0000-0001-5208-3432 Triangular end part of the big toe bone - orcid.org/0000-0001-5208-3432 @@ -269082,8 +270436,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the outermost bone of the big toe bone - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the big toe bone + ORCID:0000-0001-5208-3432 @@ -269124,19 +270478,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Abnormality of the end part of the 1st long bone of foot - - HPO:curators - In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. - - - Abnormality of the end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:curators + In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. + + + @@ -269184,18 +270538,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the innermost bone of the big toe - HPO:curators - In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. - - - - + ORCID:0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + + HPO:curators + In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. + + + @@ -269251,7 +270605,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -269303,19 +270657,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bracket shaped end part of the innermost bone of big toe - - Bracket shaped end part of the innermost bone of big toe - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. + + Bracket shaped end part of the innermost bone of big toe + ORCID:0000-0001-5208-3432 + + + + @@ -269363,8 +270717,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the innermost bone of the big toe + ORCID:0000-0001-5208-3432 Cone-shaped end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 @@ -269416,8 +270770,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the innermost bone of the big toe + ORCID:0000-0001-5208-3432 Enlarged end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 @@ -269470,7 +270824,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -269522,7 +270876,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the innermost bone of the big toe @@ -269576,7 +270930,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -269663,8 +271017,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 Small end part of the innermost bone of the big toe + ORCID:0000-0001-5208-3432 @@ -269716,8 +271070,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in the end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the innermost bone of the big toe + ORCID:0000-0001-5208-3432 @@ -269769,7 +271123,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the innermost bone of the big toe @@ -269829,8 +271183,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Absent end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 @@ -269889,8 +271243,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Bracket shaped end part of the outermost bone of big toe + ORCID:0000-0001-5208-3432 @@ -269942,7 +271296,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the outermost bone of the big toe @@ -269995,8 +271349,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the outermost bone of the big toe + ORCID:0000-0001-5208-3432 Enlarged end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 @@ -270048,8 +271402,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the outermost bone of the big toe + ORCID:0000-0001-5208-3432 @@ -270101,8 +271455,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the outermost bone of the big toe + ORCID:0000-0001-5208-3432 Irregular end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 @@ -270154,7 +271508,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the outermost bone of the big toe @@ -270242,7 +271596,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the outermost bone of the big toe @@ -270295,8 +271649,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in the end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the outermost bone of the big toe + ORCID:0000-0001-5208-3432 @@ -270349,7 +271703,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -270401,7 +271755,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the 1st long bone of foot @@ -270450,18 +271804,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of 1st long bone of foot - HPO:probinson - The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. - - - - + ORCID:0000-0001-5208-3432 Bracket shaped end part of 1st long bone of foot - orcid.org/0000-0001-5208-3432 + + HPO:probinson + The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. + + + @@ -270501,18 +271855,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the 1st long bone of foot - A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Cone-shaped end part of the 1st long bone of foot + ORCID:0000-0001-5208-3432 + + A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. + HPO:curators + + + @@ -270550,8 +271904,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the 1st long bone of foot + ORCID:0000-0001-5208-3432 Enlarged end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 @@ -270593,7 +271947,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the 1st long bone of foot @@ -270636,8 +271990,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the 1st long bone of foot + ORCID:0000-0001-5208-3432 Irregular end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 @@ -270687,7 +272041,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -270762,8 +272116,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 Small end part of the 1st long bone of foot + ORCID:0000-0001-5208-3432 @@ -270804,8 +272158,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in the end part of the 1st long bone of foot + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 @@ -270846,7 +272200,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the 1st long bone of foot @@ -270900,7 +272254,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -270942,7 +272296,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the long bones of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -271001,7 +272355,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the toe bones @@ -271054,7 +272408,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the toe bones @@ -271108,7 +272462,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -271160,8 +272514,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the toe bones + ORCID:0000-0001-5208-3432 Enlarged end part of the toe bones - orcid.org/0000-0001-5208-3432 @@ -271214,7 +272568,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -271266,8 +272620,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the toe bones - orcid.org/0000-0001-5208-3432 Irregular end part of the toe bones + ORCID:0000-0001-5208-3432 @@ -271319,7 +272673,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the toes @@ -271408,7 +272762,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -271468,7 +272822,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in long toe bones @@ -271521,7 +272875,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the toe bones @@ -271565,15 +272919,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small toe bones + ORCID:0000-0001-5208-3432 Absent/small toe bones - http://orcid.org/0000-0001-5208-3432 Absent/underdeveloped toe bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -271623,8 +272977,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Wide toe bones - http://orcid.org/0000-0001-5208-3432 @@ -271673,8 +273027,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Bullet-shaped toe bone - http://orcid.org/0000-0001-5208-3432 @@ -271722,19 +273076,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Curved toe bone - - Curved toe bone - http://orcid.org/0000-0001-5208-3432 - - - - A deviation from the normal straight form of one or more toe phalanges. HPO:probinson + + ORCID:0000-0001-5208-3432 + Curved toe bone + + + + @@ -271788,19 +273142,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in toe bone - - Uneven increase in bone density in toe bone - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. + + Uneven increase in bone density in toe bone + ORCID:0000-0001-5208-3432 + + + + @@ -271842,7 +273196,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused toe bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -271883,7 +273237,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped toe bones @@ -271933,7 +273287,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplicated toe bone @@ -271976,7 +273330,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -272017,7 +273371,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal middle bones of toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal middle bones of toe @@ -272068,7 +273422,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal innermost toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -272118,8 +273472,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped outermost bones of toe - orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost bones of toe + ORCID:0000-0001-5208-3432 @@ -272132,7 +273486,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small outermost bones of toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -272176,24 +273530,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad outermost bone of the toe - HPO:probinson - Increased width of the distal phalanx of toe of one or more toes. + Broad outermost bone of the toe + ORCID:0000-0001-5208-3432 - + + - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide outermost bone of the toe - orcid.org/0000-0001-5208-3432 - Broad outermost bone of the toe + HPO:probinson + Increased width of the distal phalanx of toe of one or more toes. - - + @@ -272233,19 +273587,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped outermost bone of the toe - - orcid.org/0000-0001-5208-3432 - Bullet-shaped outermost bone of the toe - - - - An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + Bullet-shaped outermost bone of the toe + ORCID:0000-0001-5208-3432 + + + + @@ -272284,19 +273638,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Curved outermost bone of the toe - - orcid.org/0000-0001-5208-3432 - Curved outermost bone of the toe - - - - A deviation from the normal straight form of one or more distal toe phalanges. HPO:probinson + + Curved outermost bone of the toe + ORCID:0000-0001-5208-3432 + + + + @@ -272385,18 +273739,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in outermost toe bone - HPO:probinson - Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in outermost toe bone + + HPO:probinson + Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. + + + @@ -272438,7 +273792,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused outermost bones of toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused outermost bones of toes @@ -272482,7 +273836,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped outermost bone of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -272525,18 +273879,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of outermost bone of toe - A partial or complete duplication of one or more distal phalanx of toe. - HPO:sdoelken - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of outermost bone of toe + + A partial or complete duplication of one or more distal phalanx of toe. + HPO:sdoelken + + + @@ -272575,15 +273929,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped middle bones of toe - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle bones of toe + ORCID:0000-0001-5208-3432 + Absent/small middle bones of toe - Absent/small middle bones of toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped middle bones of toe @@ -272625,7 +273979,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad middle bones of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad middle bones of the toes @@ -272671,7 +274025,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped middle bones of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -272720,18 +274074,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Curved middle bones of the toes - - orcid.org/0000-0001-5208-3432 - Curved middle bones of the toes - - - A deviation from the normal straight form of one or more middle toe phalanges. HPO:probinson + + Curved middle bones of the toes + ORCID:0000-0001-5208-3432 + + + @@ -272819,19 +274173,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in middle toe bone - - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in middle toe bone - - - - HPO:probinson Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. + + Uneven increase in bone density in middle toe bone + ORCID:0000-0001-5208-3432 + + + + @@ -272873,7 +274227,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused middle bones of toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused middle bones of toes @@ -272916,8 +274270,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped middle bones of toes - orcid.org/0000-0001-5208-3432 Triangular shaped middle bones of toes + ORCID:0000-0001-5208-3432 @@ -272960,18 +274314,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial/complete duplication of the middle bones of the toes - HPO:probinson - Partial or complete duplication of a middle phalanx of toe. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial/complete duplication of the middle bones of the toes + + HPO:probinson + Partial or complete duplication of a middle phalanx of toe. + + + @@ -273012,8 +274366,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small innermost toe bones - orcid.org/0000-0001-5208-3432 - Absent/small innermost toe bones + ORCID:0000-0001-5208-3432 + Absent/underdeveloped innermost toe bones @@ -273025,8 +274379,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped innermost toe bones + ORCID:0000-0001-5208-3432 + Absent/small innermost toe bones @@ -273069,8 +274423,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad innermost toe bone - orcid.org/0000-0001-5208-3432 Broad innermost toe bone + ORCID:0000-0001-5208-3432 @@ -273127,8 +274481,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Bullet-shaped innermost toe bone - orcid.org/0000-0001-5208-3432 @@ -273172,18 +274526,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved innermost toe bones - A deviation from the normal straight shape of a proximal phalanx of one or more toes. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Curved innermost toe bones + ORCID:0000-0001-5208-3432 + + A deviation from the normal straight shape of a proximal phalanx of one or more toes. + HPO:probinson + + + @@ -273286,8 +274640,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Uneven increase in bone density in innermost toe bone - orcid.org/0000-0001-5208-3432 @@ -273334,7 +274688,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost bones of toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -273376,8 +274730,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped innermost toe bones - orcid.org/0000-0001-5208-3432 Triangular shaped innermost toe bones + ORCID:0000-0001-5208-3432 @@ -273419,19 +274773,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplication of innermost toe bones - - orcid.org/0000-0001-5208-3432 - Duplication of innermost toe bones - - - - HPO:sdoelken Partial/complete duplication of a proximal phalanx of toe. + + ORCID:0000-0001-5208-3432 + Duplication of innermost toe bones + + + + @@ -273480,19 +274834,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Joint contracture of the big toe - - orcid.org/0000-0001-5208-3432 - Joint contracture of the big toe - - - - HPO:probinson One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. + + Joint contracture of the big toe + ORCID:0000-0001-5208-3432 + + + + @@ -273704,18 +275058,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the 2nd long bone of hand - Any abnormality of the epiphysis of the second metacarpal bone. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the 2nd long bone of hand + ORCID:0000-0001-5208-3432 + + Any abnormality of the epiphysis of the second metacarpal bone. + HPO:curators + + + @@ -273784,7 +275138,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the 3rd long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the 3rd long bone of hand @@ -273870,8 +275224,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the 4th long bone of hand + ORCID:0000-0001-5208-3432 @@ -273946,31 +275300,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the long bone of little finger - Abnormality of the end part of the long bone of pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormality of the end part of the long bone of pinky finger Abnormality of the end part of the long bone of little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - Any abnormality of the epiphysis of the fifth metacarpal bone. - HPO:curators + ORCID:0000-0001-5208-3432 + Abnormality of the end part of the long bone of pinkie finger - + + - orcid.org/0000-0001-5208-3432 - Abnormality of the end part of the long bone of pinky finger + Any abnormality of the epiphysis of the fifth metacarpal bone. + HPO:curators - - + @@ -274043,7 +275397,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of fingers - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of fingers @@ -274095,18 +275449,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of finger bones - Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of finger bones + + Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. + HPO:probinson + + + @@ -274158,19 +275512,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Cone-shaped end part of finger bones - - Cone-shaped end part of finger bones - orcid.org/0000-0001-5208-3432 - - - - A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. HPO:curators + + Cone-shaped end part of finger bones + ORCID:0000-0001-5208-3432 + + + + @@ -274212,19 +275566,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Enlarged end part of finger bones - - orcid.org/0000-0001-5208-3432 - Enlarged end part of finger bones - - - - Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. HPO:curators + + ORCID:0000-0001-5208-3432 + Enlarged end part of finger bones + + + + @@ -274264,19 +275618,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Fragmentation of end part of finger bones - - Fragmented appearance of the epiphyses of the phalanges of the fingers. - HPO:curators - - - Fragmentation of end part of finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Fragmented appearance of the epiphyses of the phalanges of the fingers. + HPO:curators + + + @@ -274323,8 +275677,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Irregular end part of finger bones + ORCID:0000-0001-5208-3432 @@ -274372,18 +275726,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the hand bones - HPO:curators - Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the hand bones + + HPO:curators + Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. + + + @@ -274468,8 +275822,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of finger bones - orcid.org/0000-0001-5208-3432 Small end part of finger bones + ORCID:0000-0001-5208-3432 @@ -274522,18 +275876,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of finger bones - HPO:probinson - The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. - - - - - orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of finger bones + ORCID:0000-0001-5208-3432 + + HPO:probinson + The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. + + + @@ -274575,8 +275929,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of finger bones + ORCID:0000-0001-5208-3432 Triangular end part of finger bones - orcid.org/0000-0001-5208-3432 @@ -274629,8 +275983,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent middle bones of hand + ORCID:0000-0001-5208-3432 Absent middle bones of hand - orcid.org/0000-0001-5208-3432 @@ -274685,6 +276039,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Short innermost finger bones + + ORCID:0000-0001-5208-3432 + Short innermost finger bones + + + + Congenital hypoplasia of one or more proximal phalanx of finger. HPO:probinson @@ -274697,13 +276058,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - orcid.org/0000-0001-5208-3432 - Short innermost finger bones - - - - @@ -274744,8 +276098,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent innermost bones + ORCID:0000-0001-5208-3432 Absent innermost bones - orcid.org/0000-0001-5208-3432 @@ -274798,8 +276152,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the outermost bone of finger + ORCID:0000-0001-5208-3432 Abnormality of the end part of the outermost bone of finger - orcid.org/0000-0001-5208-3432 @@ -274858,7 +276212,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the middle hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -274911,7 +276265,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -274963,8 +276317,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the outermost hand bones + ORCID:0000-0001-5208-3432 Absent end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 @@ -275016,7 +276370,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the outermost hand bones @@ -275069,7 +276423,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the outermost hand bones @@ -275122,7 +276476,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the outermost hand bones @@ -275175,8 +276529,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the outermost hand bones + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 @@ -275228,8 +276582,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the outermost hand bones + ORCID:0000-0001-5208-3432 Irregular end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 @@ -275291,8 +276645,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Increased bone density of end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 @@ -275379,7 +276733,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the outermost hand bones @@ -275432,7 +276786,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in the end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the outermost hand bones @@ -275485,8 +276839,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the outermost hand bones + ORCID:0000-0001-5208-3432 Triangular end part of the outermost hand bones - orcid.org/0000-0001-5208-3432 @@ -275532,7 +276886,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the middle hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the middle hand bones @@ -275585,8 +276939,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the middle hand bones - orcid.org/0000-0001-5208-3432 Bracket shaped end part of the middle hand bones + ORCID:0000-0001-5208-3432 @@ -275641,7 +276995,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the middle hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the middle hand bones @@ -275694,8 +277048,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the middle hand bones - orcid.org/0000-0001-5208-3432 Enlarged end part of the middle hand bones + ORCID:0000-0001-5208-3432 @@ -275748,7 +277102,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the middle hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the middle hand bones @@ -275807,7 +277161,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of middle hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of middle hand bones @@ -275862,18 +277216,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the middle hand bones - Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the middle hand bones + + Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. + HPO:probinson + + + @@ -275956,7 +277310,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the middle hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the middle hand bones @@ -276009,8 +277363,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in the end part of the middle hand bones + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the middle hand bones - orcid.org/0000-0001-5208-3432 @@ -276062,8 +277416,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the middle hand bones + ORCID:0000-0001-5208-3432 Triangular end part of the middle hand bones - orcid.org/0000-0001-5208-3432 @@ -276115,8 +277469,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of the innermost hand bones + ORCID:0000-0001-5208-3432 Absent end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 @@ -276168,8 +277522,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 Bracket shaped end part of the innermost hand bones + ORCID:0000-0001-5208-3432 @@ -276221,8 +277575,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 Cone-shaped end part of the innermost hand bones + ORCID:0000-0001-5208-3432 @@ -276274,7 +277628,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Enlarged end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the innermost hand bones @@ -276328,7 +277682,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fragmentation of the end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -276380,8 +277734,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 Irregular end part of the innermost hand bones + ORCID:0000-0001-5208-3432 @@ -276435,8 +277789,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density of end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the innermost hand bones + ORCID:0000-0001-5208-3432 @@ -276529,8 +277883,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small end part of the innermost hand bones + ORCID:0000-0001-5208-3432 Small end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 @@ -276582,7 +277936,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in the end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the innermost hand bones @@ -276635,8 +277989,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of the innermost hand bones + ORCID:0000-0001-5208-3432 Triangular end part of the innermost hand bones - orcid.org/0000-0001-5208-3432 @@ -276694,9 +278048,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Gingivostomatitis + + Gingivostomatitis + ORCID:0000-0001-5889-4463 + + + Inflammation of the mouth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -276707,12 +278067,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - orcid.org/0000-0001-5889-4463 - Gingivostomatitis - - - @@ -276754,25 +278108,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - A gap in the lower lip. - HPO:probinson + ORCID:0000-0001-5889-4463 + Lower labial cleft - + - Lower labial cleft - orcid.org/0000-0001-5889-4463 + A gap in the lower lip. + HPO:probinson - + - Cleft lower lip + Cleft of the lower lip - Cleft of the lower lip + Cleft lower lip @@ -276827,41 +278181,41 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Decreased volume of lower lip vermilion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased height of lower lip vermilion - orcid.org/0000-0001-5889-4463 - Thin red part of the lower lip + Thin lower lip - + - orcid.org/0000-0001-5889-4463 - Thin vermilion border of lower lip + ORCID:0000-0001-5889-4463 + Decreased volume of lower lip vermilion - Thin lower lip + Thin red part of the lower lip + ORCID:0000-0001-5889-4463 - + - Decreased height of lower lip vermilion - orcid.org/0000-0001-5889-4463 + Decreased volume of lower lip + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Decreased volume of lower lip + Thin vermilion border of lower lip + ORCID:0000-0001-5889-4463 - @@ -276894,54 +278248,54 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Dark color of gums - - - - - - Oral mucosa melanin pigmentation - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Oral racial pigmentation - Gingival melanin pigmentation - orcid.org/0000-0001-5889-4463 + Increased pigmentation, either focal or generalized, of the mucosa of the mouth. + pmid:19125428 - + - orcid.org/0000-0001-5889-4463 - Pigmented gums + Dark color of gums + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Hyperpigmentation of oral mucosa + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Gingival hyperpigmentation + ORCID:0000-0001-5889-4463 + Gingival melanin pigmentation - Increased pigmentation, either focal or generalized, of the mucosa of the mouth. - pmid:19125428 + Oral mucosa melanin pigmentation + ORCID:0000-0001-5889-4463 - + - Oral racial pigmentation - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pigmented gums - + + + + + ORCID:0000-0001-5889-4463 + Gingival hyperpigmentation + + @@ -277009,6 +278363,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter + + Abnormality of the salivary glands + + + + Salivary gland disease @@ -277021,12 +278381,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Abnormality of the salivary glands - - - - @@ -277064,16 +278418,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the submaxillary glands - Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. - HPO:curators + Abnormality of the submaxillary glands + ORCID:0000-0001-5889-4463 - + - Abnormality of the submaxillary glands - orcid.org/0000-0001-5889-4463 + Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. + HPO:curators - + @@ -277162,43 +278516,43 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Notch of alveolar ridge + A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. + HPO:probinson + HPO:mengelstad - + - orcid.org/0000-0001-5889-4463 - Cleft of gum ridge + ORCID:0000-0001-5889-4463 + Cleft of alveolar process - - + - orcid.org/0000-0001-5889-4463 - Notch of gum ridge + Notch of alveolar ridge + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Cleft of alveolar process + Notch of gum ridge + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Notch of alveolar process - A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. - HPO:probinson - HPO:mengelstad + Cleft of gum ridge + ORCID:0000-0001-5889-4463 - + + @@ -277241,18 +278595,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Decreased length of hard palate - - orcid.org/0000-0001-5889-4463 - Decreased length of hard palate - - - Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). pmid:19125428 + + ORCID:0000-0001-5889-4463 + Decreased length of hard palate + + + @@ -277276,26 +278630,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Large lateral palatal folds - + Large lateral palatal ridges - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Prominent lateral palatal folds - orcid.org/0000-0001-5889-4463 + Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. + pmid:19125428 - + - orcid.org/0000-0001-5889-4463 - Large lateral palatal folds + ORCID:0000-0001-5889-4463 + Prominent lateral palatal folds @@ -277343,14 +278697,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Agenesis of uvula - - - - - orcid.org/0000-0001-5889-4463 - Absent palatine uvula + Missing uvula + ORCID:0000-0001-5889-4463 @@ -277361,11 +278709,17 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Missing uvula + ORCID:0000-0001-5889-4463 + Absent palatine uvula + + Agenesis of uvula + ORCID:0000-0001-5889-4463 + + + @@ -277410,7 +278764,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Aplasia/hypoplasia of palatine uvula - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -277464,29 +278818,29 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Palatal hole + ORCID:0000-0001-5889-4463 Palatal hole - orcid.org/0000-0001-5889-4463 - A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. - HPO:probinson + Palatal perforation + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hole in roof of mouth - Palatal perforation - orcid.org/0000-0001-5889-4463 + A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. + HPO:probinson - + @@ -277526,16 +278880,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Lingual aplasia/hypoplasia - Absence or underdevelopment of the tongue. - HPO:curators + Lingual aplasia/hypoplasia + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Lingual aplasia/hypoplasia + Absence or underdevelopment of the tongue. + HPO:curators - + @@ -277558,18 +278912,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Tongue tied - - Tongue tied - - - - Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. pmid:19125428 + + Tongue tied + + + + @@ -277615,13 +278969,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Split tongue + ORCID:0000-0001-5889-4463 + Bifurcated tongue - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Cleft tongue @@ -277629,15 +278983,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Snake tongue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Bifurcated tongue - orcid.org/0000-0001-5889-4463 + Forked tongue + ORCID:0000-0001-5889-4463 + @@ -277647,8 +279002,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Forked tongue + Split tongue @@ -277701,12 +279055,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Atrophy of dorsum of tongue - - Atrophy of lingual surface - orcid.org/0000-0001-5889-4463 - - - Glossy appearance of the entire tongue surface. pmid:19125428 @@ -277714,41 +279062,47 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Smooth tongue + Atrophy of tongue surface + ORCID:0000-0001-5889-4463 - - + + + + Atrophy of lingual surface + ORCID:0000-0001-5889-4463 + + Smooth surface of tongue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Smooth dorsum of tongue + ORCID:0000-0001-5889-4463 + Atrophy of dorsum of tongue - + - Atrophy of tongue surface - orcid.org/0000-0001-5889-4463 + Smooth tongue - + + - Smooth lingual surface - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Smooth dorsum of tongue - + - Atrophy of dorsum of tongue - orcid.org/0000-0001-5889-4463 + Smooth lingual surface + ORCID:0000-0001-5889-4463 - + @@ -277791,14 +279145,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormality of dentin + HPO:skoehler + Abnormal dentin - HPO:skoehler - Abnormal dentin + ORCID:0000-0001-5889-4463 + Abnormality of dentine + + + + + Abnormality of dentin @@ -277809,12 +279169,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Abnormality of dentine - orcid.org/0000-0001-5889-4463 - - - @@ -277876,18 +279230,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - HPO:sdoelken - Incomplete closure of the vertebral arch - - - A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. HPO:probinson + + HPO:sdoelken + Incomplete closure of the vertebral arch + + + @@ -277942,16 +279296,10 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter - Spinal cord tumor + Spinal tumor - - - - A neoplasm affecting the spinal cord. - HPO:probinson - - + HPO:skoehler @@ -277961,10 +279309,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Spinal tumor + A neoplasm affecting the spinal cord. + HPO:probinson + + + + + Spinal cord tumor - + Tumor of the spinal cord @@ -278150,8 +279504,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Noisy breathing - orcid.org/0000-0001-5208-3432 @@ -278302,13 +279656,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped breasts - Absence or underdevelopment of the breasts. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small breasts @@ -278316,11 +279664,17 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped breasts - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absence or underdevelopment of the breasts. + HPO:curators + + + @@ -278411,7 +279765,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Gigantomastia - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -278423,7 +279777,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Macromastia - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -278472,7 +279826,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Premature breast development - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -278514,26 +279868,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small diaprhagm Absent/underdeveloped diaprhagm + + Absence or underdevelopment of the diaphragm. + HPO:curators + + + Absent/underdeveloped diaprhagm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small diaprhagm - - Absence or underdevelopment of the diaphragm. - HPO:curators - - - @@ -278609,7 +279963,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent shoulder blade @@ -278663,25 +280017,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped abdominal wall muscles - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped abdominal wall muscles - - orcid.org/0000-0001-5208-3432 - Absent/small abdominal wall muscles - - - - Absence or underdevelopment of the abdominal musculature. HPO:curators + + ORCID:0000-0001-5208-3432 + Absent/small abdominal wall muscles + + + + @@ -278857,15 +280211,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the pinkie toe Abnormality of the pinky toe + + Abnormality of the pinky toe + ORCID:0000-0001-5208-3432 + + + + Abnormality of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the little toe @@ -278877,13 +280238,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - orcid.org/0000-0001-5208-3432 - Abnormality of the pinky toe - - - - @@ -278931,8 +280285,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the 2nd toe bone + ORCID:0000-0001-5208-3432 @@ -278975,18 +280329,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the 2nd toe bone - An anomaly of a phalanx of second toe. - HPO:sdoelken - - - - - orcid.org/0000-0001-5208-3432 Abnormality of the 2nd toe bone + ORCID:0000-0001-5208-3432 + + An anomaly of a phalanx of second toe. + HPO:sdoelken + + + @@ -279025,15 +280379,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped 2nd toe - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped 2nd toe + Absent/small 2nd toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/small 2nd toe + ORCID:0000-0001-5208-3432 + Absent/underdeveloped 2nd toe @@ -279225,7 +280579,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the 3rd toe bone @@ -279269,7 +280623,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the bones of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -279314,15 +280668,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped 3rd toe - Absent/underdeveloped 3rd toe - orcid.org/0000-0001-5208-3432 + Absent/small 3rd toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/small 3rd toe + ORCID:0000-0001-5208-3432 + Absent/underdeveloped 3rd toe @@ -279514,8 +280868,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the 4th toe bone + ORCID:0000-0001-5208-3432 Abnormality of the end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 @@ -279594,14 +280948,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped 4th toe - orcid.org/0000-0001-5208-3432 @@ -279789,7 +281143,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the pinkie toe bone @@ -279797,14 +281151,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the pinky toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the little toe bone + ORCID:0000-0001-5208-3432 @@ -279848,22 +281202,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the little toe bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the little toe bones - Abnormality of the pinky toe bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormality of the pinkie toe bones - http://orcid.org/0000-0001-5208-3432 - Abnormality of the pinkie toe bones + ORCID:0000-0001-5208-3432 + Abnormality of the pinky toe bones @@ -279908,30 +281262,30 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small little toe - Absent/small pinky toe - orcid.org/0000-0001-5208-3432 + Absent/small pinkie toe + ORCID:0000-0001-5208-3432 + - orcid.org/0000-0001-5208-3432 - Absent/small pinkie toe + Absent/underdeveloped pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small little toe - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped pinky toe + Absent/small pinky toe + ORCID:0000-0001-5208-3432 - @@ -279974,22 +281328,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Displacement of the little toe - Displacement of the little toe - http://orcid.org/0000-0001-5208-3432 + Displacement of the pinkie toe + ORCID:0000-0001-5208-3432 - Displacement of the pinkie toe - http://orcid.org/0000-0001-5208-3432 + Displacement of the little toe + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 Displacement of the pinky toe + ORCID:0000-0001-5208-3432 @@ -280041,18 +281395,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy doelkens human_phenotype - - Joint contractures of the 5th toe - - - - HPO:probinson One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. + + Joint contractures of the 5th toe + + + + @@ -280091,15 +281445,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped bones of 2nd toe - orcid.org/0000-0001-5208-3432 - Absent/small bones of 2nd toe + ORCID:0000-0001-5208-3432 + Absent/underdeveloped bones of 2nd toe - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped bones of 2nd toe + Absent/small bones of 2nd toe + ORCID:0000-0001-5208-3432 @@ -280142,7 +281496,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad bones of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -280192,7 +281546,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped bones of the 2nd toe @@ -280243,14 +281597,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Curved bones of the 2nd toe - orcid.org/0000-0001-5208-3432 + Curved phalanges of the 2nd toe - Curved phalanges of the 2nd toe + ORCID:0000-0001-5208-3432 + Curved bones of the 2nd toe @@ -280343,19 +281697,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Uneven increase in bone density in 2nd toe bone - - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in 2nd toe bone - - - - HPO:probinson Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. + + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in 2nd toe bone + + + + @@ -280406,7 +281760,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused bones of 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -280449,14 +281803,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped bone of 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped bone of second toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped bone of 2nd toe @@ -280500,7 +281854,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the bones of the 2nd toe @@ -280543,7 +281897,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of the 2nd toe @@ -280586,8 +281940,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 Abnormality of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -280630,7 +281984,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -280673,15 +282027,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small bones of 3rd toe - Absent/small bones of 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped bones of 3rd toe - Absent/underdeveloped bones of 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small bones of 3rd toe @@ -280723,8 +282077,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Wide bones of 3rd toe + ORCID:0000-0001-5208-3432 Wide bones of 3rd toe - orcid.org/0000-0001-5208-3432 @@ -280768,7 +282122,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped bones of 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped bones of 3rd toe @@ -280818,12 +282172,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Curved bones of 3rd toe - - Curved phalanges of the 3rd toe - - - - A deviation from the normal straight form of one or more phalanges of the third toe. HPO:probinson @@ -280831,8 +282179,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + Curved phalanges of the 3rd toe + + + + + + ORCID:0000-0001-5208-3432 Curved bones of 3rd toe - orcid.org/0000-0001-5208-3432 @@ -280932,7 +282286,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in 3rd toe bone @@ -280980,8 +282334,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused bones of 3rd toe + ORCID:0000-0001-5208-3432 Fused bones of 3rd toe - orcid.org/0000-0001-5208-3432 @@ -281023,7 +282377,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped 3rd toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped 3rd toe bones @@ -281068,19 +282422,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplication of 3rd toe bone - - HPO:sdoelken - Partial or complete duplication of phalanx of third toe. - - - Duplication of 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Partial or complete duplication of phalanx of third toe. + + + @@ -281118,8 +282472,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -281162,7 +282516,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the middle bone of 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -281205,18 +282559,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the innermost bone of 3rd toe - An anomaly of the proximal phalanx of third toe. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Abnormality of the innermost bone of 3rd toe - orcid.org/0000-0001-5208-3432 + + An anomaly of the proximal phalanx of third toe. + HPO:probinson + + + @@ -281255,15 +282609,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small bones of 4th toe + ORCID:0000-0001-5208-3432 Absent/underdeveloped bones of 4th toe - orcid.org/0000-0001-5208-3432 Absent/small bones of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -281305,8 +282659,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad bones of the 4th toe + ORCID:0000-0001-5208-3432 Broad bones of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -281349,19 +282703,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped bones of the 4th toe - - orcid.org/0000-0001-5208-3432 - Bullet-shaped bones of the 4th toe - - - - An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bullet-shaped bones of the 4th toe + + + + @@ -281401,18 +282755,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved bones of 4th toe - A deviation from the normal straight form of one or more phalanges of the fourth toe. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Curved bones of 4th toe - orcid.org/0000-0001-5208-3432 + + A deviation from the normal straight form of one or more phalanges of the fourth toe. + HPO:probinson + + + @@ -281502,8 +282856,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in 4th toe bone - Uneven increase in bone density in 4th toe bone - orcid.org/0000-0001-5208-3432 + Patchy sclerosis of the phalanges of the 4th toe @@ -281515,7 +282868,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Patchy sclerosis of the phalanges of the 4th toe + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in 4th toe bone @@ -281562,7 +282916,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused bones of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused bones of 4th toe @@ -281606,7 +282960,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped bones of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -281650,19 +283004,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Duplication of 4th toe bone - - Duplication of 4th toe bone - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Partial or complete duplication of phalanx of fourth toe. + + Duplication of 4th toe bone + ORCID:0000-0001-5208-3432 + + + + @@ -281701,7 +283055,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost 4th toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -281743,7 +283097,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of middle 4th toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -281785,8 +283139,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal innermost 4th toe bone - orcid.org/0000-0001-5208-3432 Abnormal innermost 4th toe bone + ORCID:0000-0001-5208-3432 @@ -281831,28 +283185,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped pinky toe bones - orcid.org/0000-0001-5208-3432 - Absent/small pinkie toe bones + Absent/underdeveloped pinky toe bones + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent/small pinky toe bones + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped pinky toe bones + ORCID:0000-0001-5208-3432 + Absent/small pinkie toe bones - orcid.org/0000-0001-5208-3432 Absent/small little toe bones + ORCID:0000-0001-5208-3432 @@ -281896,21 +283250,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad bones of the pinkie toe + ORCID:0000-0001-5208-3432 Broad bones of the little toe - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad bones of the pinky toe - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad bones of the pinkie toe @@ -281957,28 +283311,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped bones of the pinkie toe - http://orcid.org/0000-0001-5208-3432 - Bullet-shaped bones of the pinkie toe + An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:probinson - - + - http://orcid.org/0000-0001-5208-3432 - Bullet-shaped bones of the little toe + ORCID:0000-0001-5208-3432 + Bullet-shaped bones of the pinky toe - An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:probinson + Bullet-shaped bones of the little toe + ORCID:0000-0001-5208-3432 - + + - Bullet-shaped bones of the pinky toe - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Bullet-shaped bones of the pinkie toe @@ -282024,7 +283378,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved little toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved pinkie toe bones @@ -282036,13 +283390,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Curved pinky toe bones + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved little toe bones @@ -282138,16 +283492,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in pinky toe bone Uneven increase in bone density in little toe bone + + Uneven increase in bone density in pinkie toe bone + ORCID:0000-0001-5208-3432 + + + + Uneven increase in bone density in little toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in pinkie toe bone + Uneven increase in bone density in pinky toe bone + ORCID:0000-0001-5208-3432 @@ -282158,13 +283519,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in pinky toe bone - - - - @@ -282205,26 +283559,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy doelkens human_phenotype Fused bones in the little toe - Fused bones in the pinky toe Fused bones in the pinkie toe + Fused bones in the pinky toe Fused bones in the pinky toe - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused bones in the little toe - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused bones in the pinkie toe - http://orcid.org/0000-0001-5208-3432 @@ -282268,22 +283622,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped pinkie toe bone - orcid.org/0000-0001-5889-4463 Triangular shaped pinkie toe bone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Triangular shaped little toe bone + Triangular shaped pinky toe bone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Triangular shaped pinky toe bone + Triangular shaped little toe bone + ORCID:0000-0001-5889-4463 @@ -282329,23 +283683,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of the bones of the little toe Duplication of the bones of the pinkie toe - - Duplication of the bones of the pinky toe - orcid.org/0000-0001-5208-3432 - - - - Duplication of the bones of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - Duplication of the bones of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Duplication of the bones of the pinky toe @@ -282356,6 +283703,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Duplication of the bones of the little toe + ORCID:0000-0001-5208-3432 + + + + @@ -282394,21 +283748,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 Abnormality of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the outermost bone of the pinkie toe @@ -282453,22 +283807,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Abnormality of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 + Abnormality of the middle bone of the little toe - Abnormality of the middle bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormality of the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 Abnormality of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 @@ -282512,22 +283866,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Abnormality of the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 + Abnormality of the innermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 - Abnormality of the innermost bone of the little toe + Abnormality of the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Abnormality of the innermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormality of the innermost bone of the little toe @@ -282573,24 +283927,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped innermost 2nd toe bone - Absent/small innermost 2nd toe bone - orcid.org/0000-0001-5208-3432 + Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe. + HPO:probinson - - + - orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost 2nd toe bone + ORCID:0000-0001-5208-3432 - Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe. - HPO:probinson + Absent/small innermost 2nd toe bone + ORCID:0000-0001-5208-3432 - + + @@ -282630,8 +283984,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad innermost bone of 2nd toe + ORCID:0000-0001-5208-3432 Broad innermost bone of 2nd toe - orcid.org/0000-0001-5208-3432 @@ -282674,19 +284028,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Bullet-shaped innermost bone of 2nd toe - - Bullet-shaped innermost bone of 2nd toe - orcid.org/0000-0001-5208-3432 - - - - An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bullet-shaped innermost bone of 2nd toe + + + + @@ -282727,7 +284081,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved innermost bone of 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -282826,8 +284180,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the innermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -282873,8 +284227,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Fused innermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -282916,7 +284270,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped innermost 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped innermost 2nd toe bone @@ -282956,7 +284310,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplication of innermost 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -283007,14 +284361,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small middle bone of 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small middle bone of 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped middle bone of 2nd toe @@ -283058,7 +284412,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad middle bone of 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad middle bone of 2nd toe @@ -283102,18 +284456,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped middle bone of 2nd toe - An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped middle bone of 2nd toe + + An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:probinson + + + @@ -283159,8 +284513,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Curved middle bone of 2nd toe + ORCID:0000-0001-5208-3432 @@ -283253,8 +284607,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -283300,8 +284654,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused middle bone of 2nd toe - orcid.org/0000-0001-5208-3432 Fused middle bone of 2nd toe + ORCID:0000-0001-5208-3432 @@ -283344,7 +284698,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped middle bone of 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -283387,7 +284741,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of middle bone of 2nd toe @@ -283433,15 +284787,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small outermost 2nd toe bone - Absent/underdeveloped outermost 2nd toe bone - orcid.org/0000-0001-5208-3432 + Absent/small outermost 2nd toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/small outermost 2nd toe bone + Absent/underdeveloped outermost 2nd toe bone + ORCID:0000-0001-5208-3432 @@ -283486,13 +284840,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Broad outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wide outermost bone of the 2nd toe @@ -283536,8 +284890,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bullet-shaped outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Bullet-shaped outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -283587,16 +284941,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Curved outermost bone of the 2nd toe - A deviation from the normal straight form of the distal phalanx of the 2nd toe. - HPO:probinson + ORCID:0000-0001-5208-3432 + Curved outermost bone of the 2nd toe - + - Curved outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + A deviation from the normal straight form of the distal phalanx of the 2nd toe. + HPO:probinson - + @@ -283685,7 +285039,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uneven increase in bone density in the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the outermost bone of the 2nd toe @@ -283733,7 +285087,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fused outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused outermost bone of the 2nd toe @@ -283776,7 +285130,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular shaped outermost 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular shaped outermost 2nd toe bone @@ -283821,8 +285175,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Duplication of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -283872,8 +285226,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Complete duplication of the innermost 2nd toe bone + ORCID:0000-0001-5208-3432 @@ -283903,8 +285257,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Partial duplication of the innermost 2nd toe bone + ORCID:0000-0001-5208-3432 @@ -283946,19 +285300,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Complete duplication of the outermost bone of the 2nd toe - - Complete duplication of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 - - - - Complete duplication of the distal phalanx of second toe. HPO:probinson + + Complete duplication of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 + + + + @@ -283976,19 +285330,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the outermost bone of the 2nd toe - - orcid.org/0000-0001-5208-3432 - Partial duplication of the outermost bone of the 2nd toe - - - - HPO:probinson Partial duplication of the distal phalanx of second toe. + + Partial duplication of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 + + + + @@ -284026,19 +285380,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Complete duplication of the middle bone of the 2nd toe - - Complete duplication of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 - - - - Complete duplication of middle phalanx of second toe. HPO:sdoelken + + Complete duplication of the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 + + + + @@ -284056,19 +285410,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Partial duplication of the middle bone of the 2nd toe - - HPO:sdoelken - Partial duplication of middle phalanx of second toe. - - - Partial duplication of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Partial duplication of middle phalanx of second toe. + + + @@ -284086,7 +285440,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Partial duplication of 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial duplication of 2nd toe bone @@ -284134,19 +285488,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Complete duplication of the 2nd toe bones - - Complete duplication of the 2nd toe bones - orcid.org/0000-0001-5208-3432 - - - - Complete duplication of a phalanx of second toe. HPO:sdoelken + + ORCID:0000-0001-5208-3432 + Complete duplication of the 2nd toe bones + + + + @@ -284186,7 +285540,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent 2nd toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent 2nd toe bones @@ -284234,8 +285588,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short 2nd toe bone - orcid.org/0000-0001-5208-3432 Short 2nd toe bone + ORCID:0000-0001-5208-3432 @@ -284287,8 +285641,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Absent outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -284345,8 +285699,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Short outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -284389,8 +285743,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent middle bone of 2nd toe - orcid.org/0000-0001-5208-3432 Absent middle bone of 2nd toe + ORCID:0000-0001-5208-3432 @@ -284435,8 +285789,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short middle 2nd toe bone + ORCID:0000-0001-5208-3432 Short middle 2nd toe bone - orcid.org/0000-0001-5208-3432 @@ -284484,8 +285838,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent innermost 2nd toe bone + ORCID:0000-0001-5208-3432 Absent innermost 2nd toe bone - orcid.org/0000-0001-5208-3432 @@ -284530,8 +285884,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Short innermost 2nd toe bone + ORCID:0000-0001-5208-3432 Short innermost 2nd toe bone - orcid.org/0000-0001-5208-3432 @@ -284580,19 +285934,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy doelkens human_phenotype Abnormality of the ventricular septum + Fyler:1815 Abnormal interventricular septum morphology - A structural abnormality of the interventricular septum. - HPO:probinson + Abnormal interventricular septum morphology + ORCID:0000-0001-5208-3432 - + - Abnormal interventricular septum morphology - orcid.org/0000-0001-5208-3432 + A structural abnormality of the interventricular septum. + HPO:probinson - + @@ -284686,6 +286041,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C0152427 doelkens human_phenotype + Fyler:4103 A congenital anomaly characterized by the presence of supernumerary fingers or toes. @@ -284731,13 +286087,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Split thighbone - - http://orcid.org/0000-0001-5208-3432 - Notched thighbone - - - - A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. HPO:probinson @@ -284745,8 +286094,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Split thighbone - http://orcid.org/0000-0001-5208-3432 + + + + + + Notched thighbone + ORCID:0000-0001-5208-3432 @@ -284819,6 +286175,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C0741296 human_phenotype peter + Fyler:1110 Atrial septal defect, primum type @@ -284931,18 +286288,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter - - An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. - HPO:probinson - - - Anal fistula MEDDRA:10002156 + + An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. + HPO:probinson + + + @@ -285027,19 +286384,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Narrowing of the esophagus - - Narrowing of the esophagus - orcid.org/0000-0001-5208-3432 - - - - An abnormal narrowing of the lumen of the esophagus. HPO:probinson + + ORCID:0000-0001-5208-3432 + Narrowing of the esophagus + + + + @@ -285084,15 +286441,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Absent/underdeveloped spleen + ORCID:0000-0001-5208-3432 Absent/small spleen - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -285136,7 +286493,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal spleen location - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal spleen location @@ -285186,18 +286543,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Pelvic asymmetry - - Pelvic asymmetry - HPO:skoehler - - - HPO:probinson Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. + + Pelvic asymmetry + HPO:skoehler + + + @@ -285236,8 +286593,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy An exageration of the normal arched form of the acetabular roof such that it takes on a steep appearance. - An exageration of the normal arched form of the acetabular roof such that it takes on a steep appearance. HPO:probinson + An exageration of the normal arched form of the acetabular roof such that it takes on a steep appearance. @@ -285470,12 +286827,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormal male genitals - - Abnormal male genitals - - - - Abnormality of the male genital system. HPO:probinson @@ -285488,6 +286839,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Abnormal male genitals + + + + @@ -285526,25 +286883,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small ovary - orcid.org/0000-0001-5208-3432 + Aplasia or developmental hypoplasia of the ovary. + HPO:probinson + + + + + ORCID:0000-0001-5208-3432 Absent/small ovary - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped ovary - - Aplasia or developmental hypoplasia of the ovary. - HPO:probinson - - - @@ -285583,18 +286940,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Aplasia, that is failure to develop, of the ovary. - HPO:probinson - - - Absent ovary + + Aplasia, that is failure to develop, of the ovary. + HPO:probinson + + + @@ -285697,15 +287054,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small testes - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped testes + Absent/small testes + ORCID:0000-0001-5208-3432 - Absent/small testes - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped testes + ORCID:0000-0001-5208-3432 @@ -285735,12 +287092,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absence of palpable testicules Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. - - Absence of palpable testicules - HPO:skoehler - - - HPO:probinson PMID:23650202 @@ -285749,12 +287100,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Absent testes + ORCID:0000-0001-5208-3432 + + Absence of palpable testicules + HPO:skoehler + + + @@ -285794,8 +287151,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Extra testes - orcid.org/0000-0001-5208-3432 Extra testes + ORCID:0000-0001-5208-3432 @@ -286036,14 +287393,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small bladder - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped bladder - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -286090,19 +287447,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Absent bladder - - Absent bladder - orcid.org/0000-0001-5208-3432 - - - - Aplasia (absence) of the urinary bladder. HPO:probinson + + ORCID:0000-0001-5208-3432 + Absent bladder + + + + @@ -286343,19 +287700,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Increased size of upper limb - - orcid.org/0000-0001-5208-3432 - Increased size of upper limb - - - - Abnormal increase in size of the upper limbs (due to an increase of the size of cells). HPO:curators + + ORCID:0000-0001-5208-3432 + Increased size of upper limb + + + + @@ -286502,24 +287859,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small palm crease - orcid.org/0000-0001-5208-3432 - Absent/small palm crease + Absence or underdevelopment of the palmar creases. + HPO:curators - - + - orcid.org/0000-0001-5208-3432 Absent/underdeveloped palm crease + ORCID:0000-0001-5208-3432 - Absence or underdevelopment of the palmar creases. - HPO:curators + Absent/small palm crease + ORCID:0000-0001-5208-3432 - + + @@ -286560,13 +287917,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent palm lines - - Absent palm lines - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). @@ -286574,6 +287924,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Absent palm lines + ORCID:0000-0001-5208-3432 + + + + @@ -286612,19 +287969,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the palm lines - - orcid.org/0000-0001-5208-3432 - Abnormality of the palm lines - - - - An abnormality of the creases of the skin of palm of hand. HPO:probinson + + Abnormality of the palm lines + ORCID:0000-0001-5208-3432 + + + + @@ -286711,19 +288068,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Elongated long bone of hand - - http://orcid.org/0000-0001-5208-3432 - Elongated long bone of hand - - - - An abnormally increased length of the metacarpal bones. HPO:probinson + + ORCID:0000-0001-5208-3432 + Elongated long bone of hand + + + + @@ -286903,19 +288260,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Partial knee cap dislocation - - Partial knee cap dislocation - orcid.org/0000-0001-5208-3432 - - - - HPO:curators The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. + + ORCID:0000-0001-5208-3432 + Partial knee cap dislocation + + + + @@ -287014,8 +288371,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bowed calf bone - http://orcid.org/0000-0001-5208-3432 Bowed calf bone + ORCID:0000-0001-5208-3432 @@ -287063,19 +288420,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Duplicated calf bone - - Duplicated calf bone - http://orcid.org/0000-0001-5208-3432 - - - - Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. HPO:probinson + + ORCID:0000-0001-5208-3432 + Duplicated calf bone + + + + @@ -287113,13 +288470,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased length of shinbone Increased length of shankbone - - Increased length of shankbone - orcid.org/0000-0001-5208-3432 - - - - An abnormal increase in the length of the tibia. HPO:curators @@ -287127,8 +288477,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Increased length of shankbone + + + + + Increased length of shinbone + ORCID:0000-0001-5208-3432 @@ -287174,18 +288531,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal prints on feet - An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal prints on feet + + An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. + HPO:probinson + + + @@ -287287,8 +288644,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent ankle bone - orcid.org/0000-0001-5208-3432 Absent ankle bone + ORCID:0000-0001-5208-3432 @@ -287390,6 +288747,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter + + Increased length of toes + + + + Digits that appear disproportionately long compared to the foot. HPO:probinson @@ -287398,7 +288761,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Increased length of toes + Long toe @@ -287409,12 +288772,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Long toe - - - - @@ -287594,25 +288951,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped thymus + ORCID:0000-0001-5208-3432 Absent/small thymus - orcid.org/0000-0001-5208-3432 - - Absence or underdevelopment of the thymus. - HPO:probinson - - - Absent/underdeveloped thymus - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absence or underdevelopment of the thymus. + HPO:probinson + + + HPO:skoehler Thymic hypoplasia or aplasia @@ -287656,18 +289013,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Enlarged thymus - - Enlarged thymus - - - - Enlargement of the thymus. HPO:curators + + Enlarged thymus + + + + @@ -287714,19 +289071,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormal thymus position - - HPO:curators - The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. - - - Abnormal thymus position - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:curators + The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. + + + @@ -287820,18 +289177,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). - HPO:probinson - - - Reading disability + + A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). + HPO:probinson + + + @@ -287852,12 +289209,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Word blindness - - - - Text blindness @@ -287870,6 +289221,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Word blindness + + + + @@ -288039,29 +289396,29 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Echologia - Echophrasia - orcid.org/0000-0001-6908-9849 + HPO:curators + The tendency to repeat vocalizations made by another person. - + - Repeated speech - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Echophrasia - - + - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Echologia - HPO:curators - The tendency to repeat vocalizations made by another person. + Repeated speech + ORCID:0000-0001-6908-9849 - + + @@ -288269,8 +289626,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5889-4463 + Broad cranial sutures + + + + + ORCID:0000-0001-5889-4463 Large cranial suture - orcid.org/0000-0001-5889-4463 @@ -288282,18 +289645,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5889-4463 Persistent open cranial sutures - orcid.org/0000-0001-5889-4463 - - Broad cranial sutures - orcid.org/0000-0001-5889-4463 - - - @@ -288338,41 +289695,41 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - An abnormally small sella turcica. - HPO:curators + Small hypophyseal fossa + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Small pituitary fossa + Hypoplasia of sella turcica + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Small hypophyseal fossa + Hypoplasia of hypophseal fossa + ORCID:0000-0001-5889-4463 - - Hypoplasia of pituitary fossa - orcid.org/0000-0001-5889-4463 + An abnormally small sella turcica. + HPO:curators - + - Hypoplasia of sella turcica - orcid.org/0000-0001-5889-4463 + Hypoplasia of pituitary fossa + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Hypoplasia of hypophseal fossa + Small pituitary fossa + ORCID:0000-0001-5889-4463 + @@ -288416,14 +289773,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Thin cranial bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Thin skull bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -288481,46 +289838,46 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Scalp folds - HPO:probinson - The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. + Thickened folds on top of scalp + ORCID:0000-0001-5889-4463 - + + + ORCID:0000-0001-5889-4463 Scalp folds - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Furrows in thickened skin on top of scalp - orcid.org/0000-0001-5889-4463 - Thickened folds on top of scalp - - - - - + ORCID:0000-0001-5889-4463 Thickening of the scalp - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Scalp furrows - orcid.org/0000-0001-5889-4463 + + HPO:probinson + The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. + + + @@ -288731,19 +290088,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Leg paralysis - - Leg paralysis - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Severe or complete weakness of both lower extremities with sparing of the upper extremities. + + ORCID:0000-0001-5208-3432 + Leg paralysis + + + + @@ -288827,8 +290184,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Webbed skin of fingers - orcid.org/0000-0001-5208-3432 @@ -289001,19 +290358,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Wavy collarbone - - orcid.org/0000-0001-5208-3432 - Wavy collarbone - - - - An abnormally wavy surface or edge of the clavicles. HPO:curators + + ORCID:0000-0001-5208-3432 + Wavy collarbone + + + + @@ -289050,18 +290407,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - An abnormally wavy surface or edge of the ribs. - HPO:probinson - - - Wavy ribs + + An abnormally wavy surface or edge of the ribs. + HPO:probinson + + + @@ -289237,7 +290594,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Y-shaped long bone of foot @@ -289414,18 +290771,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Elevated levels of phytanic acid - - - - An abnormal elevation of phytanic acid. HPO:curators + + Elevated levels of phytanic acid + + + + @@ -289476,19 +290833,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy sandra1 Abnormality of the end part of the innermost thighbone - - Any abnormality of the proximal epiphysis of the femur. - HPO:sdoelken - - - Abnormality of the end part of the innermost thighbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Any abnormality of the proximal epiphysis of the femur. + HPO:sdoelken + + + @@ -289527,19 +290884,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy sandra1 Abnormality of femoral head development - - orcid.org/0000-0001-5208-3432 - Abnormality of femoral head development - - - - HPO:probinson The presence of developmental dysplasia of the femoral head. + + ORCID:0000-0001-5208-3432 + Abnormality of femoral head development + + + + @@ -289628,7 +290985,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent end part of bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of bone @@ -289670,7 +291027,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Bracket shaped end part of long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of long bone @@ -289716,7 +291073,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone-shaped end part of bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of bone @@ -289769,19 +291126,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy sandra1 Large end part of bone - - orcid.org/0000-0001-5208-3432 - Large end part of bone - - - - HPO:probinson Increased size of epiphyses. + + Large end part of bone + ORCID:0000-0001-5208-3432 + + + + @@ -289825,7 +291182,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Irregular end part of long bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of long bone @@ -289875,7 +291232,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased bone density in end part of bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in end part of bone @@ -289945,8 +291302,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Small end part of bone - orcid.org/0000-0001-5208-3432 @@ -289987,8 +291344,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Triangular end part of bone - orcid.org/0000-0001-5208-3432 Triangular end part of bone + ORCID:0000-0001-5208-3432 @@ -290055,18 +291412,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the outermost thighbone - Any abnormality of the distal epiphysis of the femur. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Abnormality of the end part of the outermost thighbone - orcid.org/0000-0001-5208-3432 + + Any abnormality of the distal epiphysis of the femur. + HPO:probinson + + + @@ -290106,24 +291463,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of innermost shankbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - Any abnormality of the proximal epiphysis of the tibia. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 Abnormality of the end part of innermost shinbone + ORCID:0000-0001-5208-3432 + + Any abnormality of the proximal epiphysis of the tibia. + HPO:curators + + + @@ -290162,13 +291519,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of outermost shankbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of outermost shinbone @@ -290210,8 +291567,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the calf bone + ORCID:0000-0001-5208-3432 Abnormality of the end part of the calf bone - orcid.org/0000-0001-5208-3432 @@ -290253,18 +291610,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the innermost end part of calf bone - Any abnormality of the proximal epiphysis of the fibula. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the innermost end part of calf bone + + Any abnormality of the proximal epiphysis of the fibula. + HPO:curators + + + @@ -290302,18 +291659,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the outermost end part of calf bone - Any abnormality of the distal epiphysis of the fibula. - HPO:curators - - - - + ORCID:0000-0001-5208-3432 Abnormality of the outermost end part of calf bone - orcid.org/0000-0001-5208-3432 + + Any abnormality of the distal epiphysis of the fibula. + HPO:curators + + + @@ -290434,18 +291791,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the innermost long bone in upper arm - Any abnormality of the proximal epiphysis of the humerus. - HPO:curators - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the innermost long bone in upper arm + + Any abnormality of the proximal epiphysis of the humerus. + HPO:curators + + + @@ -290484,7 +291841,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the end part of the outermost long bone in upper arm - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the outermost long bone in upper arm @@ -290687,28 +292044,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Lesion of the eyelid - Lesion of the eyelid - orcid.org/0000-0001-5889-4463 + Eyelid mass + ORCID:0000-0001-5889-4463 - + - Cyst of the eyelid + Eyelid bump + ORCID:0000-0001-5889-4463 - Eyelid mass - orcid.org/0000-0001-5889-4463 + Lesion of the eyelid + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Eyelid bump + Cyst of the eyelid @@ -290764,13 +292121,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Red bump on eyelid Stye of eyelid - - Red bump on eyelid - orcid.org/0000-0001-5889-4463 - - - - An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. HPO:sdoelken @@ -290778,7 +292128,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + Red bump on eyelid + ORCID:0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 Stye of eyelid @@ -290826,18 +292183,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Red bump on inner eyelid - orcid.org/0000-0001-5889-4463 - Red bump on inner eyelid + Stye of inner eyelid + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Stye of inner eyelid + ORCID:0000-0001-5889-4463 + Red bump on inner eyelid - + HPO:curators @@ -291207,12 +292564,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Breast fibroadenomas Breast fibroadenoma - - Breast fibroadenomas - HPO:skoehler - - - A benign biphasic tumor of the breast with epithelial and stromal components. HPO:probinson @@ -291220,6 +292571,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Breast fibroadenomas + HPO:skoehler + + + @@ -291265,25 +292622,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - DDD:jclayton-smith - Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. - - - - + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 Cheekbone prominence - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 Hyperplasia of malar bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + DDD:jclayton-smith + Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. + + + @@ -291336,7 +292693,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed skin of toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -291399,8 +292756,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Skeletal tumor - orcid.org/0000-0001-5208-3432 @@ -291440,13 +292797,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/underdeveloped toenails Absent/small toenails - - orcid.org/0000-0001-5208-3432 - Absent/underdeveloped toenails - - - - Absence or underdevelopment of the toenail. HPO:probinson @@ -291454,12 +292804,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small toenails + + Absent/underdeveloped toenails + ORCID:0000-0001-5208-3432 + + + + @@ -291499,12 +292856,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Adenohypophysis - - Adenohypophysis - orcid.org/0000-0001-5208-3432 - - - Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. DDD:spark @@ -291512,6 +292863,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Adenohypophysis + + + @@ -291550,7 +292907,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent pituitary gland - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent pituitary gland @@ -291610,8 +292967,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Underdeveloped pituitary gland + ORCID:0000-0001-5208-3432 @@ -291682,18 +293039,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter - - Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. - HPO:sdoelken - - - Bell's palsy + + Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. + HPO:sdoelken + + + Facial weakness @@ -291787,8 +293144,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of end part of long bone of foot + ORCID:0000-0001-5208-3432 Abnormality of end part of long bone of foot - orcid.org/0000-0001-5208-3432 @@ -291845,19 +293202,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormality of the end part of the foot bone - - orcid.org/0000-0001-5208-3432 - Abnormality of the end part of the foot bone - - - - Any abnormality of the epiphyses of the feet. HPO:curators + + ORCID:0000-0001-5208-3432 + Abnormality of the end part of the foot bone + + + + @@ -292060,6 +293417,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy doelkens human_phenotype + + Elevated alkaline phosphatase of bone origin + + + + An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. HPO:probinson @@ -292072,12 +293435,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Elevated alkaline phosphatase of bone origin - - - - @@ -292261,19 +293618,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Absent outermost bone of the toes - - Absence of the distal phalanges of the toes. - HPO:curators - - - Absent outermost bone of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absence of the distal phalanges of the toes. + HPO:curators + + + @@ -292419,20 +293776,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Depressed nasal alae - An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). - HPO:probinson + Depressed nasal alae + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Depressed nasal alae + An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). + HPO:probinson - + - orcid.org/0000-0001-5889-4463 Flat nasal alar cartilage + ORCID:0000-0001-5889-4463 @@ -292480,9 +293837,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdevelopment of premaxilla Primary palate bone retrusion Premaxillary underdevelopment - Hypoplasia of the primary palate bone Hypoplasia of the intermaxillary bone Underdevelopment of the primary palate bone + Hypoplasia of the primary palate bone Decreased size of the primary palate bone Decreased size of premaxilla Small primary palate bone @@ -292490,21 +293847,35 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Underdevelopment of premaxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Primary palate bone retrusion + + + + + Premaxillary bone retrusion + ORCID:0000-0001-5889-4463 + + + + + Primary palate bone deficiency + ORCID:0000-0001-5889-4463 + + + ORCID:0000-0001-5889-4463 Underdevelopment of the primary palate bone - orcid.org/0000-0001-5889-4463 - Small primary palate bone - orcid.org/0000-0001-5889-4463 + Small premaxilla + ORCID:0000-0001-5889-4463 @@ -292513,88 +293884,74 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. HPO:probinson pmid:19125436 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of the premaxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Hypoplasia of the primary palate bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased size of premaxilla - - Premaxillary bone deficiency - orcid.org/0000-0001-5889-4463 + Hypoplasia of the intermaxillary bone + ORCID:0000-0001-5889-4463 - - Premaxillary bone retrusion - orcid.org/0000-0001-5889-4463 + Decreased size of the primary palate bone + ORCID:0000-0001-5889-4463 - + - Primary palate bone retrusion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + Premaxillary underdevelopment - - + - Primary palate bone deficiency - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small primary palate bone - orcid.org/0000-0001-5889-4463 - Hypoplasia of the intermaxillary bone + ORCID:0000-0001-5889-4463 + Underdevelopment of premaxilla + ORCID:0000-0001-5889-4463 Premaxillary retrusion - orcid.org/0000-0001-5889-4463 - Small premaxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Premaxillary bone deficiency - orcid.org/0000-0001-5889-4463 - Premaxillary underdevelopment - orcid.org/0000-0001-5208-3432 - - - - - Decreased size of the primary palate bone - orcid.org/0000-0001-5889-4463 - - - - - Decreased size of premaxilla - orcid.org/0000-0001-5889-4463 + Hypoplasia of the primary palate bone + ORCID:0000-0001-5889-4463 + @@ -292759,8 +294116,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent cerebral falx - orcid.org/0000-0001-5208-3432 Absent cerebral falx + ORCID:0000-0001-5208-3432 @@ -292816,8 +294173,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Speckled calcifications in end part of bone - orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of bone + ORCID:0000-0001-5208-3432 @@ -292877,7 +294234,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal maturation of the end part of a bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -293018,7 +294375,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal maturation of the hand bone @@ -293154,18 +294511,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormal shape of thalamus - - orcid.org/0000-0001-5208-3432 - Abnormal shape of thalamus - - - An abnormality of the thalamus. HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormal shape of thalamus + + + @@ -293300,12 +294657,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdevelopment of anterior nasal spine Small anterior nasal spine - - Hypotrophic anterior nasal spine - orcid.org/0000-0001-5889-4463 - - - HPO:probinson Underdevelopment of the anterior nasal spine of maxilla. @@ -293313,41 +294664,47 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Underdevelopment of anterior nasal spine - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 - Deficiency of anterior nasal spine + ORCID:0000-0001-5889-4463 + Hypotrophic anterior nasal spine Decreased size of anterior nasal spine - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Small anterior nasal spine - orcid.org/0000-0001-5889-4463 - Decreased length of anterior nasal spine - orcid.org/0000-0001-5889-4463 + Decreased projection of anterior nasal spine + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Decreased projection of anterior nasal spine + Underdevelopment of anterior nasal spine + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + Deficiency of anterior nasal spine + + + + + Decreased length of anterior nasal spine + ORCID:0000-0001-5889-4463 + + + @@ -293393,41 +294750,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing upper jaw bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Agenesis of the maxilla + ORCID:0000-0001-5889-4463 Failure of development of maxilla - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Aplasia of the upper jaw bones - - - - - Missing upper jaw bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of upper jaw bones - - - - Absence of the maxilla - orcid.org/0000-0001-5889-4463 - - Absence of upper jaw bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of the maxilla - @@ -293437,12 +294781,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Aplasia of the upper jaw bones + + + + + ORCID:0000-0001-5889-4463 Failure of development of upper jaw bones + + ORCID:0000-0001-5889-4463 + Missing upper jaw bones + + + + @@ -293483,19 +294840,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Deformity of the cheekbone Anomaly of the zygomatic bone - - orcid.org/0000-0001-5889-4463 - Abnormality of the cheekbone - - - - - - Malformation of the zygomatic bone - orcid.org/0000-0001-5889-4463 - - - An abnormality of the zygomatic bone. HPO:curators @@ -293503,24 +294847,37 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5889-4463 Deformity of the zygomatic bone - orcid.org/0000-0001-5889-4463 - Anomaly of the zygomatic bone - orcid.org/0000-0001-5889-4463 + Malformation of the zygomatic bone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deformity of the cheekbone + + Abnormality of the cheekbone + ORCID:0000-0001-5889-4463 + + + + + + Anomaly of the zygomatic bone + ORCID:0000-0001-5889-4463 + + + @@ -293578,116 +294935,116 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Depressed zygomatic bone - orcid.org/0000-0001-5889-4463 - Decreased size of cheekbone + ORCID:0000-0001-5889-4463 + Small zygomatic bone - - - - HPO:probinson - Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. - pmid:19125436 - orcid.org/0000-0001-5889-4463 - - + - Underdevelopment of cheekbone - orcid.org/0000-0001-5889-4463 + Small cheekbone + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Hypotrophic zygomatic bone + ORCID:0000-0001-5889-4463 + Underdevelopment of zygomatic bone - + + ORCID:0000-0001-5889-4463 Depressed cheekbone - orcid.org/0000-0001-5889-4463 - Hypotrophic cheekbone - orcid.org/0000-0001-5889-4463 + Hypotrophy of the cheekbone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Small malar bone - orcid.org/0000-0001-5889-4463 - Hypotrophy of the cheekbone + Flattening of the zygomatic bone + ORCID:0000-0001-5889-4463 - + - Decreased size of zygomatic bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypotrophic zygomatic bone - + - Underdevelopment of zygomatic bone - orcid.org/0000-0001-5889-4463 + Underdevelopment of cheekbone + ORCID:0000-0001-5889-4463 + - Depressed zygomatic bone - orcid.org/0000-0001-5889-4463 + Cheekbone underdevelopment + ORCID:0000-0001-5889-4463 - + + - Flattening of the zygomatic bone - orcid.org/0000-0001-5889-4463 + Decreased size of zygomatic bone + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypotrophy of the zygomatic bone - Cheekbone underdevelopment - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypoplasia of cheekbone - - orcid.org/0000-0001-5889-4463 - Hypoplasia of cheekbone + HPO:probinson + Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. + pmid:19125436 + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Small zygomatic bone + Decreased size of cheekbone + ORCID:0000-0001-5889-4463 - + - Small cheekbone - orcid.org/0000-0001-5889-4463 + Depressed zygomatic bone + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 + Hypotrophic cheekbone + + + @@ -293731,8 +295088,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Abnormality of the 3rd long bone of foot - http://orcid.org/0000-0001-5208-3432 @@ -293774,13 +295131,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal curve of the spine Abnormal curve of the backbone - - http://orcid.org/0000-0001-6908-9849 - Abnormal curve of the backbone - - - - HPO:probinson The presence of an abnormal curvature of the vertebral column. @@ -293788,8 +295138,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + Abnormal curve of the backbone + ORCID:0000-0001-6908-9849 + + + + + + ORCID:0000-0001-6908-9849 Abnormal curve of the spine - http://orcid.org/0000-0001-6908-9849 @@ -293847,18 +295204,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy sandra1 Abnormal maturation of foot bones - - Abnormal maturation of foot bones - orcid.org/0000-0001-5208-3432 - - - An abnormality of the formation and mineralization of any bone of the skeleton of foot. HPO:probinson + + Abnormal maturation of foot bones + ORCID:0000-0001-5208-3432 + + + @@ -294398,41 +295755,41 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C4023736 doelkens human_phenotype - Webbed 2nd-5th fingers Webbed index, middle and little finger + Webbed 2nd-5th fingers Webbed index, middle and pinkie finger Webbed index, middle and pinky finger - HPO:sdoelken - Syndactyly with fusion of fingers two to five. - - - - - orcid.org/0000-0001-5208-3432 Webbed 2nd-5th fingers + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Webbed index, middle and little finger - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Webbed index, middle and pinky finger + HPO:sdoelken + Syndactyly with fusion of fingers two to five. + + + + + ORCID:0000-0001-5208-3432 Webbed index, middle and pinkie finger - orcid.org/0000-0001-5208-3432 @@ -294455,12 +295812,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Pulverulent cataract - - - - A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. HPO:probinson @@ -294468,6 +295819,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Pulverulent cataract + + + + @@ -294805,21 +296162,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed thumb and index finger - HPO:sdoelken - Syndactyly with fusion of fingers one and two. - - - - - orcid.org/0000-0001-5208-3432 Webbed 1st-2nd finger + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Syndactyly with fusion of fingers one and two. + + + Webbed thumb and index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -294871,7 +296228,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Webbed 4th-5th finger @@ -294918,8 +296275,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed 1st-3rd finger - orcid.org/0000-0001-5208-3432 Webbed 1st-3rd finger + ORCID:0000-0001-5208-3432 @@ -294971,8 +296328,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed 1st-4th finger - orcid.org/0000-0001-5208-3432 Webbed 1st-4th finger + ORCID:0000-0001-5208-3432 @@ -295024,18 +296381,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed 1st-5th fingers - HPO:sdoelken - Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Webbed 1st-5th fingers + + HPO:sdoelken + Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). + + + @@ -295086,8 +296443,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 Webbed index through ring fingers + ORCID:0000-0001-5208-3432 @@ -295133,18 +296490,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed third, fourth and fifth toes - HPO:sdoelken - Syndactyly with fusion of fingers three to five. - - - - + ORCID:0000-0001-5208-3432 Webbed third, fourth and fifth toes - orcid.org/0000-0001-5208-3432 + + HPO:sdoelken + Syndactyly with fusion of fingers three to five. + + + @@ -295186,18 +296543,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed first and second toes - HPO:sdoelken - Syndactyly with fusion of toes one and two. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Webbed first and second toes + + HPO:sdoelken + Syndactyly with fusion of toes one and two. + + + @@ -295245,8 +296602,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 Webbed first through fourth toes - orcid.org/0000-0001-5208-3432 @@ -295300,7 +296657,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Webbed 1st-5th toes @@ -295350,19 +296707,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy sdoelken Webbed 2nd-4th toes - - Webbed 2nd-4th toes - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Syndactyly with fusion of toes two to four. + + Webbed 2nd-4th toes + ORCID:0000-0001-5208-3432 + + + + @@ -295404,7 +296761,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed 2nd-5th toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Webbed 2nd-5th toes @@ -295457,18 +296814,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Webbed 3rd-5th toes - HPO:sdoelken - Syndactyly with fusion of toes three to five. - - - - + ORCID:0000-0001-5889-4463 Webbed 3rd-5th toes - orcid.org/0000-0001-5889-4463 + + HPO:sdoelken + Syndactyly with fusion of toes three to five. + + + @@ -295539,15 +296896,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of hair volume - orcid.org/0000-0001-5889-4463 - Abnormality of hair curl pattern + Abnormality of hair volume + ORCID:0000-0001-5889-4463 - Abnormality of hair volume - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of hair consistency @@ -295565,8 +296922,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Abnormality of hair consistency + ORCID:0000-0001-5889-4463 + Abnormality of hair curl pattern @@ -295615,18 +296972,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - An abnormality of the distribution of hair growth. - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 Abnormal distribution of hair + ORCID:0000-0001-5889-4463 + + An abnormality of the distribution of hair growth. + HPO:probinson + + + @@ -295671,14 +297028,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormal hair whorl + Abnormal hair whorls + HPO:skoehler - Abnormal hair whorls - HPO:skoehler + Abnormal hair whorl @@ -295721,18 +297078,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy sdoelken - - Asymmetric ears - - - - An asymmetriy, i.e., difference in size, shape or position between the left and right ear. HPO:probinson + + Asymmetric ears + + + + @@ -295858,7 +297215,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent retina @@ -295939,7 +297296,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Duplication of eyebrow @@ -295998,7 +297355,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Eyelid nodules @@ -296020,19 +297377,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype Port-wine stain on eyelid - - Port-wine stain on eyelid - orcid.org/0000-0001-5208-3432 - - - - HPO:sdoelken Naevus flammeus localised in the skin of the eyelid. + + Port-wine stain on eyelid + ORCID:0000-0001-5208-3432 + + + + @@ -296189,7 +297546,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fluid accumulation in lower limbs - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fluid accumulation in lower limbs @@ -296240,8 +297597,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fluid accumulation in upper limbs - http://orcid.org/0000-0001-5208-3432 Fluid accumulation in upper limbs + ORCID:0000-0001-5208-3432 @@ -296311,18 +297668,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:skoehler - Short metatarsal bones - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short long bone of foot + + HPO:skoehler + Short metatarsal bones + + + @@ -296367,7 +297724,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent long bone of foot @@ -296412,18 +297769,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent bones of the toes - Absence of a digit or of one or more phalanges of a toe. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Absent bones of the toes - orcid.org/0000-0001-5208-3432 + + Absence of a digit or of one or more phalanges of a toe. + HPO:probinson + + + @@ -296460,7 +297817,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Small toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small toe bones @@ -296552,16 +297909,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. - PMID:3207663 + ORCID:0000-0001-5889-4463 + Saggy upper eyelid skin - + - orcid.org/0000-0001-5889-4463 - Saggy upper eyelid skin + Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. + PMID:3207663 - + @@ -296586,30 +297943,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Eyelid dermatochalasia Hooding of eyelids - - Hooding of eyelids - orcid.org/0000-0001-5889-4463 - - - - Droopy eyelid skin - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Baggy eyes + Hooding of eyelids + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 Redundant eyelid skin - orcid.org/0000-0001-5889-4463 @@ -296621,8 +297971,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5889-4463 Extra eyelid skin - orcid.org/0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 + Baggy eyes @@ -296652,23 +298009,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Chin dent - orcid.org/0000-0001-5889-4463 + Chin dimples + HPO:skoehler - + - Chin skin dimple + Indentation of chin + ORCID:0000-0001-5889-4463 - A persistent midline depression of the skin over the fat pad of the chin. - pmid:19125436 + ORCID:0000-0001-5889-4463 + Chin dent - + + Chin butt @@ -296677,15 +298036,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Chin dimples - HPO:skoehler + Chin dimple - + - Indentation of chin - orcid.org/0000-0001-5889-4463 + Chin skin dimple @@ -296697,16 +298054,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 Gelasin of chin + ORCID:0000-0001-5889-4463 - Chin dimple + A persistent midline depression of the skin over the fat pad of the chin. + pmid:19125436 - - + @@ -296747,6 +298104,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cleft lower jaw + + Mandibular cleft + ORCID:0000-0001-5889-4463 + + + Midline deficiency of the mandible and some or all overlying tissues. pmid:19125436 @@ -296759,12 +298122,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - http://orcid.org/0000-0001-5889-4463 - Mandibular cleft - - - @@ -296782,7 +298139,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Midline cleft of mandible - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -296834,54 +298191,54 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Deformity of the jaw joint - orcid.org/0000-0001-5889-4463 - Deformity of the temporomandibular joint - - - - - Deformity of the jaw joint + An anomaly of the temporomandibular joint. + HPO:probinson - - + - Abnormality of the jaw joint + Deformity of the temporomandibular joint + ORCID:0000-0001-5889-4463 - - + Malformation of jaw joint - + - orcid.org/0000-0001-5889-4463 - Malformation of the temporomandibular joint + Deformity of the jaw joint - + - An anomaly of the temporomandibular joint. - HPO:probinson + Abnormality of the jaw joint - + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Derangement of the temporomandibular joint Anomaly of the temporomandibular joint - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + Malformation of the temporomandibular joint + + + + @@ -296934,99 +298291,99 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Asymmetry of the upper jaw + ORCID:0000-0001-5889-4463 + Crooked maxilla - - + - orcid.org/0000-0001-5889-4463 - Asymmetry of right and left side of the maxilla + Uneven maxilla + ORCID:0000-0001-5889-4463 + + Asymmetry between the left and right sides of the maxilla. + ORCID:0000-0001-5889-4463 + + + Asymmetry of upper jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Asymmetry between the left and right sides of the maxilla. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Asymmetry of the upper jaw - + + - Deviation of the upper jaw - orcid.org/0000-0001-5889-4463 + Crooked upper jaw + ORCID:0000-0001-5889-4463 - + - Canted upper jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Uneven upper jaw - + - orcid.org/0000-0001-5889-4463 - Unequal sides of maxilla + ORCID:0000-0001-5889-4463 + Asymmetry of right and left side of the maxilla - orcid.org/0000-0001-5889-4463 - Crooked upper jaw + ORCID:0000-0001-5889-4463 + Unequal sides of maxilla - - + + ORCID:0000-0001-5889-4463 Deviation of the maxilla - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Tilted maxilla + ORCID:0000-0001-5889-4463 + Deviation of the upper jaw - + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Canted maxilla - orcid.org/0000-0001-5889-4463 - Uneven maxilla + ORCID:0000-0001-5889-4463 + Canted upper jaw + - orcid.org/0000-0001-5889-4463 - Crooked maxilla + ORCID:0000-0001-5889-4463 + Tilted maxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Tilted upper jaw - - - - - orcid.org/0000-0001-5889-4463 - Uneven upper jaw - @@ -297068,22 +298425,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Aplasia/hypoplasia of the primary palate bone - orcid.org/0000-0001-5889-4463 Aplasia/hypoplasia of the intermaxillary bone + ORCID:0000-0001-5889-4463 - Absence or underdevelopment of the premaxilla. - HPO:probinson + Aplasia/hypoplasia of the primary palate bone + ORCID:0000-0001-5889-4463 - + - Aplasia/hypoplasia of the primary palate bone - orcid.org/0000-0001-5889-4463 + Absence or underdevelopment of the premaxilla. + HPO:probinson - + @@ -297131,69 +298488,69 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing primary palate bone - orcid.org/0000-0001-5889-4463 - Absence of the intermaxillary bone + ORCID:0000-0001-5889-4463 + Aplasia of the intermaxillary bone - - Absence of the primary palate bone - orcid.org/0000-0001-5889-4463 + Absence of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. + HPO:probinson - - + - orcid.org/0000-0001-5889-4463 - Absence of the premaxilla + ORCID:0000-0001-5889-4463 + Missing premaxilla - orcid.org/0000-0001-5889-4463 - Missing primary palate bone + Aplasia of the primary palate bone + ORCID:0000-0001-5889-4463 - - Aplasia of the primary palate bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of the premaxilla + - orcid.org/0000-0001-5889-4463 - Missing premaxilla + Absence of the primary palate bone + ORCID:0000-0001-5889-4463 - Failure of development of premaxilla - orcid.org/0000-0001-5889-4463 + Absence of the intermaxillary bone + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 Failure of development of the primary palate bone - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Aplasia of the intermaxillary bone + ORCID:0000-0001-5889-4463 + Missing primary palate bone + - Absence of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. - HPO:probinson + Failure of development of premaxilla + ORCID:0000-0001-5889-4463 - + @@ -297235,38 +298592,38 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of the premaxillary bone - An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. - HPO:sdoelken - orcid.org/0000-0001-5889-4463 + Abnormality of the intermaxillary bone + ORCID:0000-0001-5889-4463 - + + - Abnormality of the primary palate bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of the premaxillary bone - orcid.org/0000-0001-5889-4463 - Abnormality of the intermaxillary bone + ORCID:0000-0001-5889-4463 + Abnormality of the intermaxillary segment of the maxilla - - Abnormality of the premaxillary bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of the primary palate bone - Abnormality of the intermaxillary segment of the maxilla - orcid.org/0000-0001-5889-4463 + An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. + HPO:sdoelken + ORCID:0000-0001-5889-4463 - + @@ -297311,44 +298668,44 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Anterior position of the premaxilla - orcid.org/0000-0001-5889-4463 + Prominence of the primary palate bone + ORCID:0000-0001-5889-4463 Prominence of the intermaxillary bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Premaxillary bone excess - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anterior position of the primary palate bone + HPO:sdoelken Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. pmid:19125436 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Anterior position of the primary palate bone - orcid.org/0000-0001-5889-4463 + Anterior position of the premaxilla + ORCID:0000-0001-5889-4463 - Prominence of the primary palate bone - orcid.org/0000-0001-5889-4463 + Premaxillary bone excess + ORCID:0000-0001-5889-4463 - @@ -297396,11 +298753,10 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent toes - HPO:skoehler + Absent toe - + Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. @@ -297409,10 +298765,11 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent toe + Absent toes + HPO:skoehler - + @@ -297458,28 +298815,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased width of columella - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Fullness of columella + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Hyperplasia of columella - - - Increased width of the columella. pmid:19152422 + + Hyperplasia of columella + ORCID:0000-0001-5889-4463 + + + @@ -297544,18 +298901,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Ala higher than columella - - orcid.org/0000-0001-5889-4463 - Ala higher than columella - - - Insertion of the posterior columella below the nasal base. pmid:19152422 + + Ala higher than columella + ORCID:0000-0001-5889-4463 + + + @@ -297594,6 +298951,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Decreased length of eyelashes + + Short eyelashes + + + + Decreased length of the eyelashes (subjective). HPO:probinson @@ -297601,18 +298964,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Decreased length of eyelashes - - Short eyelashes - - - - @@ -297782,6 +299139,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C0158634 human_phenotype sdoelken + Fyler:2030 Partial anomalous pulmonary venous connection @@ -297806,6 +299164,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype sdoelken Triatrial heart + Fyler:3031 DDD:dbrown @@ -297831,6 +299190,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Vascular ring of aorta human_phenotype sdoelken + Fyler:2760 A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. @@ -298007,11 +299367,10 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:skoehler - Large pelvis + HPO:probinson + The presence of an abnormally large pelvis. - - + Large pelvis bone @@ -298020,10 +299379,11 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:probinson - The presence of an abnormally large pelvis. + HPO:skoehler + Large pelvis - + + @@ -298069,18 +299429,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Skin dimples - - - - HPO:probinson Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. + + Skin dimples + + + + @@ -298097,18 +299457,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - A subtype of skin dimples occurring in the shoulder region. - HPO:probinson - - - Shoulder dimples + + A subtype of skin dimples occurring in the shoulder region. + HPO:probinson + + + @@ -298193,18 +299553,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Uterine tumor - A tumor (abnormal growth of tissue) of the uterus. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uterine tumor + + A tumor (abnormal growth of tissue) of the uterus. + HPO:probinson + + + Uterine cancer @@ -298367,19 +299727,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy sdoelken Genital tumor - - Genital tumor - orcid.org/0000-0001-5208-3432 - - - - A tumor (abnormal growth of tissue) of the genital system. HPO:probinson + + Genital tumor + ORCID:0000-0001-5208-3432 + + + + @@ -298439,7 +299799,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Testicular tumor @@ -298607,19 +299967,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Notched nail - - orcid.org/0000-0001-5208-3432 - Notched nail - - - - A digit with two nails, with at least some soft tissue between them. pmid:19125433 + + ORCID:0000-0001-5208-3432 + Notched nail + + + + @@ -298792,6 +300152,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Ephelis of lip + + ORCID:0000-0001-5889-4463 + Ephelis of lip + + + Lip freckle @@ -298804,12 +300170,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - orcid.org/0000-0001-5889-4463 - Ephelis of lip - - - @@ -298880,49 +300240,49 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Lack of cupid's bow - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Agenesis of cupid's bow - - Aplasia of cupid's bow - orcid.org/0000-0001-5889-4463 - - - - - Lack of paramedian peaks and median notch of the upper lip vermilion. - pmid:19125428 - - - - - Agenesis of cupid's bow - orcid.org/0000-0001-5889-4463 + Lack of cupid's bow + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 Missing cupid's bow + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of cupid's bow + + ORCID:0000-0001-5889-4463 + Aplasia of cupid's bow + + + Absent cupid's bow + + Lack of paramedian peaks and median notch of the upper lip vermilion. + pmid:19125428 + + + @@ -298945,22 +300305,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). - pmid:19125428 + Shallow nasolabial fold + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 Flat nasolabial fold - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Shallow nasolabial fold + Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). + pmid:19125428 - + @@ -298982,24 +300342,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Darkening of skin around the mouth - Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Increased pigmentation around the mouth - + + - orcid.org/0000-0001-5889-4463 Darkening of skin around the mouth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased pigmentation around the mouth + Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. + pmid:19125428 - - + @@ -299048,43 +300408,43 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Everted upper lip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Everted prominent upper lip Eclabium of upper lip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Outward turned upper lip + ORCID:0000-0001-5889-4463 + Drooping upper lip - - - - Everted prominent upper lip - orcid.org/0000-0001-5889-4463 - - + + ORCID:0000-0001-5889-4463 Protruding upper lip - orcid.org/0000-0001-5889-4463 - Drooping upper lip - orcid.org/0000-0001-5889-4463 + Outward turned upper lip + ORCID:0000-0001-5889-4463 - + + + + ORCID:0000-0001-5889-4463 + Everted upper lip + + HPO:probinson @@ -299117,8 +300477,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:skoehler Tented upper lip + HPO:skoehler @@ -299156,29 +300516,29 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Oral commissures positioned superior to the midline labial fissure. - pmid:19125428 + Upturned oral commisures + ORCID:0000-0001-5889-4463 - + - Upturned corners of mouth + Upturned mouth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Upturned oral commisures + Upturned corners of mouth + - orcid.org/0000-0001-5889-4463 - Upturned mouth + Oral commissures positioned superior to the midline labial fissure. + pmid:19125428 - - + @@ -299203,19 +300563,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fish mouth - Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. - pmid:19125428 + Wide, carp-shaped mouth - + + - Carp-shaped mouth + Large, carp-shaped mouth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Fish mouth @@ -299228,16 +300588,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Wide, carp-shaped mouth + Carp-shaped mouth - Large, carp-shaped mouth + Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. + pmid:19125428 - - + @@ -299263,13 +300623,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Open bite between upper and lower teeth - orcid.org/0000-0001-5889-4463 - - - - - - Open bite + ORCID:0000-0001-5889-4463 @@ -299281,12 +300635,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Absence of overlap of upper and lower teeth + + Open bite + + + + @@ -299335,52 +300695,52 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Tongue sticking out of mouth + ORCID:0000-0001-5889-4463 + Lingual protrusion - - Tongue extending beyond the alveolar ridges or teeth at rest. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Lingual prominence - + - orcid.org/0000-0001-5889-4463 - Lingual prominence + Protruding tongue + - Prolapse of tongue - orcid.org/0000-0001-5889-4463 + Prominent tongue + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Lingual prolapse + Tongue extending beyond the alveolar ridges or teeth at rest. + pmid:19125428 - + - Prominent tongue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Prolapse of tongue - - Protruding tongue + Tongue sticking out of mouth + ORCID:0000-0001-5889-4463 - Lingual protrusion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Lingual prolapse @@ -299470,28 +300830,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Elongated uvula - orcid.org/0000-0001-5889-4463 + Hyperplasia of uvula + ORCID:0000-0001-5889-4463 - + - Increased length of the uvula. - pmid:19125428 + ORCID:0000-0001-5889-4463 + Elongated uvula - + - orcid.org/0000-0001-5889-4463 - Hyperplasia of uvula + Long palatine uvula + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Long palatine uvula + Increased length of the uvula. + pmid:19125428 - + @@ -299532,13 +300892,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Thin uvula - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Narrow palatine uvula @@ -299549,6 +300903,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5889-4463 + Thin uvula + + + @@ -299595,14 +300955,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 Short palatine uvula + ORCID:0000-0001-5889-4463 Blunt uvula - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -299650,54 +301010,54 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Supernumary hair swirls - - Abnormal number of hair whorls - - - - Supernumary hair whorl - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Supernumary hair swirls - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Extra hair whorl + - Extra hair whorl - orcid.org/0000-0001-5889-4463 + Abnormal number of hair swirls + ORCID:0000-0001-5889-4463 - More than two clockwise hair whorls. - pmid:19125436 + Supernumary hair swirls + ORCID:0000-0001-5889-4463 - + - Abnormal number of hair swirls - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Extra hair swirls - orcid.org/0000-0001-5889-4463 - Extra hair swirls + Double crown (hair whorls) + ORCID:0000-0001-5889-4463 - Double crown (hair whorls) - orcid.org/0000-0001-5889-4463 + More than two clockwise hair whorls. + pmid:19125436 + + + + + Abnormal number of hair whorls @@ -299742,14 +301102,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Abnormal location of hair swirl + Abnormal position of hair whorl - Abnormal position of hair whorl + Abnormal location of hair swirl + ORCID:0000-0001-5889-4463 @@ -299785,7 +301145,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Sebaceous mole - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Sebaceous mole @@ -299940,6 +301300,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Sudden loss of muscle tone + + Sudden loss of muscle tone + + + + HPO:jalbers HPO:probinson @@ -299947,12 +301313,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Sudden loss of muscle tone - - - - @@ -300081,16 +301441,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - An overlap of the bony plates of the skull in an infant, with or without early closure. - HPO:probinson + Cranial suture ridges + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Cranial suture ridges + An overlap of the bony plates of the skull in an infant, with or without early closure. + HPO:probinson - + @@ -300173,7 +301533,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of cranial nerve XI - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of cranial nerve XI @@ -300223,8 +301583,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of cranial nerve 12 - Abnormality of cranial nerve 12 - orcid.org/0000-0001-5889-4463 + Abnormality of the twelfth cranial nerve. + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 + Abnormality of cranial nerve xii @@ -300235,14 +301601,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormality of the twelfth cranial nerve. - HPO:probinson - - - - - orcid.org/0000-0001-5889-4463 - Abnormality of cranial nerve xii + ORCID:0000-0001-5889-4463 + Abnormality of cranial nerve 12 @@ -300322,7 +301682,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Spasms on one side of the face - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -300348,28 +301708,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter - Impaired temperature sensation + Abnormality of temperature sensation - A reduced ability to discriminate between different temperatures. - HPO:probinson + Loss of temperature sensation - + + - Abnormality of temperature sensation + Impaired temperature sensation - Loss of temperature sensation + A reduced ability to discriminate between different temperatures. + HPO:probinson - - + @@ -300388,18 +301748,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. - HPO:probinson - - - Impaired touch sensation + + A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. + HPO:probinson + + + @@ -300568,19 +301928,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - An abnormal concentration of copper. - HPO:probinson - - - Abnormal copper levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + An abnormal concentration of copper. + HPO:probinson + + + @@ -300715,18 +302075,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Increased urinary copper concentration - - - - An increased concentration of copper in the urine. HPO:probinson + + Increased urinary copper concentration + + + + @@ -301235,12 +302595,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - HPO:probinson - Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. - - - Intellectual disability, severe @@ -301248,19 +302602,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Severe mental retardation + Mental retardation, severe - Mental retardation, severe + HPO:probinson + Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. + + + + + Early and severe mental retardation - Early and severe mental retardation + Severe mental retardation @@ -301327,18 +302687,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - An incomplete closure of the abdominal wall. - HPO:probinson - - - Abdominal wall defect + + An incomplete closure of the abdominal wall. + HPO:probinson + + + @@ -301429,18 +302789,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Afferent ataxia Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits. - - Ataxia, sensory - HPO:skoehler - - - HPO:probinson Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. + + Ataxia, sensory + HPO:skoehler + + + @@ -301580,18 +302940,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Blood protein disease - - - - An abnormal level of a circulating protein in the blood. HPO:probinson + + Blood protein disease + + + + @@ -301762,6 +303122,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy UMLS:C0242855 human_phenotype peter + Fyler:1001 A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. @@ -302217,7 +303578,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy High plasma sarcosine levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -302274,19 +303635,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter High urine sarcosine levels - - High urine sarcosine levels - orcid.org/0000-0001-5208-3432 - - - - An elevated urinary concentration of sarcosine. HPO:gcarletti + + ORCID:0000-0001-5208-3432 + High urine sarcosine levels + + + + @@ -302582,9 +303943,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy obsolete Abnormality of histidine metabolism - 2010-12-08T07:15:34Z HP:0010905 - peter true HP:0010904 @@ -302646,8 +304005,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5208-3432 High blood histidine level - orcid.org/0000-0001-5208-3432 @@ -302825,7 +304184,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy High blood valine concentration - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -302885,8 +304244,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy High blood leucine concentration - orcid.org/0000-0001-5208-3432 High blood leucine concentration + ORCID:0000-0001-5208-3432 @@ -302993,7 +304352,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy High blood isoleucine concentration - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -303784,18 +305143,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Abnormality of the upper urinary tract - - - - An abnormality of the upper urinary tract. HPO:probinson + + Abnormality of the upper urinary tract + + + + @@ -303890,55 +305249,55 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Malformation of the nasal skeleton + Anomaly of the nasal skeleton + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Deformity of the nasal skeleton + ORCID:0000-0001-5889-4463 + Malformation of the bones of the nose - - An abnormality of the nasal skeleton. - HPO:probinson - - - Deformity of the bones of the nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Distortion of the nasal skeleton + ORCID:0000-0001-5889-4463 + Distortion of the bones of the nose - orcid.org/0000-0001-5889-4463 - Malformation of the bones of the nose + An abnormality of the nasal skeleton. + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 + Distortion of the nasal skeleton - orcid.org/0000-0001-5889-4463 - Anomaly of the nasal skeleton + Malformation of the nasal skeleton + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Distortion of the bones of the nose + ORCID:0000-0001-5889-4463 + Deformity of the nasal skeleton @@ -303985,34 +305344,34 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Deformity of the external nose - Deformity of the external nose - orcid.org/0000-0001-5889-4463 + An abnormality of the external nose. + HPO:probinson + + + + + Malformation of the external nose + ORCID:0000-0001-5889-4463 - Anomaly of the external nose - orcid.org/0000-0001-5889-4463 + Abnormality of the external nose - Malformation of the external nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the external nose - An abnormality of the external nose. - HPO:probinson - - - - - Abnormality of the external nose + Anomaly of the external nose + ORCID:0000-0001-5889-4463 @@ -304057,17 +305416,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Deformity of the nasal bones + An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. + HPO:probinson + + + + + ORCID:0000-0001-5889-4463 Malformation of the nasal bones - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Anomaly of the nasal bones + ORCID:0000-0001-5889-4463 + Deformity of the nasal bones - + + Abnormality of the nasal bone @@ -304076,17 +305442,10 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Deformity of the nasal bones - orcid.org/0000-0001-5889-4463 - - - - - - An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. - HPO:probinson + ORCID:0000-0001-5889-4463 + Anomaly of the nasal bones - + @@ -304173,6 +305532,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing nasal bone Agenesis of the nasal bone + + ORCID:0000-0001-5889-4463 + Agenesis of the nasal bone + + + Absence of the nasal bone. HPO:probinson @@ -304180,37 +305545,31 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Missing nasal bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Lack of development of the nasal bone - + - orcid.org/0000-0001-5889-4463 Failure of development of the nasal bone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of the nasal bone + ORCID:0000-0001-5889-4463 + Missing nasal bone - orcid.org/0000-0001-5889-4463 - Lack of development of the nasal bone + ORCID:0000-0001-5889-4463 + Absence of the nasal bone - - - - Agenesis of the nasal bone - orcid.org/0000-0001-5889-4463 - @@ -304651,23 +306010,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Underdeveloped right heart - HPO:probinson - Underdevelopment of the right-sided structures of the heart. + Underdeveloped right heart + ORCID:0000-0001-6908-9849 - + + + ORCID:0000-0001-6908-9849 Hypoplastic right heart syndrome - orcid.org/0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 - Underdeveloped right heart + HPO:probinson + Underdevelopment of the right-sided structures of the heart. - - + @@ -305377,11 +306736,10 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal number of b cells - A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. - HPO:probinson - MP:0002458 + Abnormal numbers of B cells + HPO:skoehler - + HPO:skoehler @@ -305390,10 +306748,11 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:skoehler - Abnormal numbers of B cells + A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. + HPO:probinson + MP:0002458 - + @@ -305435,18 +306794,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter B cell lymphopenia - - Low B cell count - - - - An abnormal decrease from the normal count of B cells. HPO:probinson + + Low B cell count + + + + @@ -305684,19 +307043,19 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Lack of fat in blood - - Lack of fat in blood - orcid.org/0000-0001-5208-3432 - - - - An abnormal decrease in the level of lipoprotein cholesterol in the blood. HPO:proteinemia + + Lack of fat in blood + ORCID:0000-0001-5208-3432 + + + + @@ -306088,14 +307447,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-6908-9849 - Abnormality of the striate nucleus + Abnormality of the neostriatum + ORCID:0000-0001-6908-9849 - http://orcid.org/0000-0001-6908-9849 - Abnormality of the neostriatum + ORCID:0000-0001-6908-9849 + Abnormality of the striate nucleus @@ -306266,8 +307625,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent optic tract + ORCID:0000-0001-5208-3432 Absent optic tract - orcid.org/0000-0001-5208-3432 @@ -306290,14 +307649,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small optic tract - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-5208-3432 Absent/underdeveloped optic tract + ORCID:0000-0001-5208-3432 @@ -306355,18 +307714,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Increased bone mineral density - - - - An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. HPO:probinson + + Increased bone mineral density + + + + @@ -306441,34 +307800,34 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5889-4463 - Severely close sighted + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + Severe near sightedness - orcid.org/0000-0001-5208-3432 - Severely near sighted - orcid.org/0000-0001-5889-4463 + A severe form of myopia with greater than -6.00 diopters. + DDD:ncarter - - + - orcid.org/0000-0001-5208-3432 - Severe near sightedness - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Severely near sighted + ORCID:0000-0001-5208-3432 - A severe form of myopia with greater than -6.00 diopters. - DDD:ncarter + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Severely close sighted - + + @@ -306510,6 +307869,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter Abnormal systemic artery morphology + Fyler:2600 HP:0005114 Abnormality of the systemic arterial tree @@ -306580,12 +307940,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Neck muscle issue Abnormality of cervical musculature - - Abnormality of the musculature of the neck - - - - An abnormality of the neck musculature. HPO:probinson @@ -306593,17 +307947,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Neck muscle issue + Abnormality of the musculature of the neck - orcid.org/0000-0001-5889-4463 Abnormality of cervical musculature + ORCID:0000-0001-5889-4463 + + Neck muscle issue + + + + @@ -306611,7 +307971,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Temporal pattern - + 2011-02-20T10:22:32Z HP:0011008 Speed of onset @@ -306668,18 +308028,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Chronic - - - - HPO:probinson Slow, creeping onset, slow progress and long continuance of disease manifestations. + + Chronic + + + + @@ -307244,28 +308604,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter - Abnormality of the gastrointestinal tract + Digestive system disease - + - An abnormality of the gastrointestinal tract. - HPO:probinson + Gastrointestinal disease - + + - Digestive system disease + Abnormality of the gastrointestinal tract - + - Gastrointestinal disease + An abnormality of the gastrointestinal tract. + HPO:probinson - - + @@ -307346,20 +308706,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absent/small vagina - Aplasia or developmental hypoplasia of the vagina. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Absent/underdeveloped vagina - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + Aplasia or developmental hypoplasia of the vagina. + HPO:probinson + + + + + ORCID:0000-0001-5208-3432 Absent/small vagina @@ -307498,18 +308858,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Internal bleeding - HPO:probinson - The presence of hemorrhage within the body. - - - - + ORCID:0000-0001-5208-3432 Internal bleeding - orcid.org/0000-0001-5208-3432 + + HPO:probinson + The presence of hemorrhage within the body. + + + @@ -307641,12 +309001,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Fluid imbalance - - An abnormality of the regulation of body fluids. - HPO:probinson - - - Abnormality of fluid regulation @@ -307655,11 +309009,17 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fluid imbalance - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + + An abnormality of the regulation of body fluids. + HPO:probinson + + + @@ -307750,6 +309110,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Amyloid disease + + Amyloid disease + ORCID:0000-0001-6908-9849 + + + HPO:probinson The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. @@ -307757,12 +309123,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - orcid.org/0000-0001-6908-9849 - Amyloid disease - - - @@ -308060,15 +309420,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent/underdeveloped cervical spine - http://orcid.org/0000-0001-5208-3432 + Absent/small cervical spine + ORCID:0000-0001-5208-3432 - Absent/small cervical spine - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped cervical spine @@ -308207,9 +309567,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal number of adult teeth - orcid.org/0000-0001-5889-4463 - Abnormal complement of permanent teeth + Abnormal number of permanent teeth + @@ -308219,9 +309579,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormal number of permanent teeth + ORCID:0000-0001-5889-4463 + Abnormal permanent tooth count - @@ -308231,8 +309591,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Abnormal permanent tooth count + ORCID:0000-0001-5889-4463 + Abnormal complement of permanent teeth @@ -308283,12 +309643,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing permanent maxillary central incisor Absence of permanent upper front tooth - - Missing permanent upper central incisor - orcid.org/0000-0001-5889-4463 - - - Agenesis of upper secondary incisor. HPO:ibailleulforestier @@ -308296,56 +309650,62 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Missing adult upper central incisor + ORCID:0000-0001-5889-4463 + Agenesis of adult maxillary central incisor - - + - orcid.org/0000-0001-5889-4463 - Failure of development of permanent maxillary central incisor + Absence of permanent upper front tooth + ORCID:0000-0001-5889-4463 - + + - Missing permanent maxillary central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of permanent upper central incisor - Agenesis of adult maxillary central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing permanent upper central incisor - + + ORCID:0000-0001-5889-4463 Absence of permanent maxillary central incisor - orcid.org/0000-0001-5889-4463 - Absence of permanent upper front tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing adult upper central incisor - orcid.org/0000-0001-5889-4463 - Absence of permanent upper central incisor + ORCID:0000-0001-5889-4463 + Missing permanent upper front tooth + - orcid.org/0000-0001-5889-4463 - Missing permanent upper front tooth + ORCID:0000-0001-5889-4463 + Missing permanent maxillary central incisor - + + ORCID:0000-0001-5889-4463 + Failure of development of permanent maxillary central incisor + + + @@ -308386,81 +309746,81 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing upper front milk tooth Missing upper front baby tooth Agenesis of deciduous maxillary central incisor - Failure of development of deciduous maxillary central incisor Absence of upper front baby tooth + Failure of development of deciduous maxillary central incisor Missing deciduous maxillary central incisor Missing primary maxillary central incisor Failure of development of primary maxillary central incisor Absence of deciduous maxillary central incisor - orcid.org/0000-0001-5889-4463 - Missing upper front milk tooth + ORCID:0000-0001-5889-4463 + Missing deciduous maxillary central incisor - - Absence of deciduous maxillary central incisor - orcid.org/0000-0001-5889-4463 + Absence of upper front baby tooth + ORCID:0000-0001-5889-4463 + + + Agenesis of upper central primary incisor. + HPO:ibailleulforestier + + + Missing upper front baby tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Agenesis of deciduous maxillary central incisor + Absence of deciduous maxillary central incisor + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Missing deciduous maxillary central incisor + ORCID:0000-0001-5889-4463 + Absence of primary maxillary central incisor + ORCID:0000-0001-5889-4463 Failure of development of deciduous maxillary central incisor - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Missing primary maxillary central incisor - - - - - orcid.org/0000-0001-5889-4463 - Absence of primary maxillary central incisor + Failure of development of primary maxillary central incisor + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Absence of upper front baby tooth + ORCID:0000-0001-5889-4463 + Missing upper front milk tooth - Failure of development of primary maxillary central incisor - orcid.org/0000-0001-5889-4463 + Agenesis of deciduous maxillary central incisor + ORCID:0000-0001-5889-4463 - Agenesis of upper central primary incisor. - HPO:ibailleulforestier + Missing primary maxillary central incisor + ORCID:0000-0001-5889-4463 - + @@ -308508,36 +309868,36 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Agenesis of primary lower central incisor Absence of primary mandibular central incisor Missing lower front baby tooth - Missing deciduous mandibular central incisor Missing primary mandibular central incisor + Missing deciduous mandibular central incisor - Absence of primary mandibular central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Agenesis of primary lower central incisor - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Agenesis of deciduous lower central incisor - orcid.org/0000-0001-5889-4463 - Absence of deciduous mandibular central incisor + ORCID:0000-0001-5889-4463 + Missing deciduous mandibular central incisor - orcid.org/0000-0001-5889-4463 - Missing lower front primary tooth + ORCID:0000-0001-5889-4463 + Failure of development of deciduous mandibular central incisor - + - orcid.org/0000-0001-5889-4463 - Missing lower central incisor milk tooth + Missing primary mandibular central incisor + ORCID:0000-0001-5889-4463 @@ -308548,45 +309908,45 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Missing deciduous mandibular central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing lower central incisor milk tooth - orcid.org/0000-0001-5889-4463 - Failure of development of deciduous mandibular central incisor + Missing lower front milk tooth + ORCID:0000-0001-5889-4463 - + + - Failure of development of primary mandibular central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of deciduous mandibular central incisor - + - Agenesis of primary lower central incisor - orcid.org/0000-0001-5889-4463 + Failure of development of primary mandibular central incisor + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Missing lower front milk tooth + ORCID:0000-0001-5889-4463 + Missing lower front primary tooth - - Missing primary mandibular central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of primary mandibular central incisor + ORCID:0000-0001-5889-4463 Missing lower front baby tooth - orcid.org/0000-0001-5889-4463 @@ -308632,71 +309992,71 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absence of permanent lower central incisor Absence of permanent mandibular central incisor Missing permanent lower front tooth - Agenesis of adult mandibular central incisor Missing adult lower central incisor + Agenesis of adult mandibular central incisor Failure of development of permanent mandibular central incisor - Missing permanent mandibular central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing permanent lower central incisor - Agenesis of adult mandibular central incisor - orcid.org/0000-0001-5889-4463 + Agenesis of lower secondary incisor. + HPO:ibailleulforestier - + - orcid.org/0000-0001-5889-4463 - Missing permanent lower central incisor + ORCID:0000-0001-5889-4463 + Missing permanent mandibular central incisor - Missing adult lower central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Failure of development of permanent mandibular central incisor - - + - Agenesis of lower secondary incisor. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Absence of permanent lower central incisor - + + ORCID:0000-0001-5889-4463 Absence of permanent lower front tooth - orcid.org/0000-0001-5889-4463 - Failure of development of permanent mandibular central incisor - orcid.org/0000-0001-5889-4463 + Absence of permanent mandibular central incisor + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Missing permanent lower front tooth + Missing adult lower central incisor + ORCID:0000-0001-5889-4463 - Absence of permanent mandibular central incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Agenesis of adult mandibular central incisor - + - orcid.org/0000-0001-5889-4463 - Absence of permanent lower central incisor + ORCID:0000-0001-5889-4463 + Missing permanent lower front tooth + @@ -308743,26 +310103,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing deciduous maxillary lateral incisor + ORCID:0000-0001-5889-4463 Absence of primary maxillary lateral incisor - orcid.org/0000-0001-5889-4463 - Missing primary maxillary lateral incisor - orcid.org/0000-0001-5889-4463 + Absence of deciduous maxillary lateral incisor + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Agenesis of deciduous maxillary lateral incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of primary maxillary lateral incisor - orcid.org/0000-0001-5889-4463 @@ -308773,20 +310133,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Absence of deciduous maxillary lateral incisor - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of deciduous maxillary lateral incisor - orcid.org/0000-0001-5889-4463 Missing deciduous maxillary lateral incisor + ORCID:0000-0001-5889-4463 + + + + + Missing primary maxillary lateral incisor + ORCID:0000-0001-5889-4463 @@ -308827,22 +310187,22 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Missing permanent maxillary lateral incisor Absence of permanent maxillary lateral incisor - Missing permanent upper lateral incisor Agenesis of permanent upper lateral incisor + Missing permanent upper lateral incisor Failure of development of permanent maxillary lateral incisor Failure of development of permanent upper lateral incisor - orcid.org/0000-0001-5889-4463 - Missing permanent upper lateral incisor + ORCID:0000-0001-5889-4463 + Failure of development of permanent maxillary lateral incisor - + - orcid.org/0000-0001-5889-4463 - Failure of development of permanent maxillary lateral incisor + ORCID:0000-0001-5889-4463 + Absence of permanent maxillary lateral incisor - + Agenesis of one or more upper lateral secondary incisor. @@ -308851,28 +310211,28 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absence of permanent maxillary lateral incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing permanent upper lateral incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of permanent upper lateral incisor - orcid.org/0000-0001-5889-4463 - Agenesis of permanent upper lateral incisor + ORCID:0000-0001-5889-4463 + Missing permanent maxillary lateral incisor - + - orcid.org/0000-0001-5889-4463 - Missing permanent maxillary lateral incisor + Agenesis of permanent upper lateral incisor + ORCID:0000-0001-5889-4463 - + @@ -308920,54 +310280,54 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Agenesis of bicuspid - orcid.org/0000-0001-5889-4463 Failure of development of bicuspid + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of premolar + ORCID:0000-0001-5889-4463 + Failure of development of premolar - - + - orcid.org/0000-0001-5889-4463 - Missing premolar + Absence of bicuspid + ORCID:0000-0001-5889-4463 - - Missing bicuspid - orcid.org/0000-0001-5889-4463 + Absence of premolar + ORCID:0000-0001-5889-4463 + - Agenesis of bicuspid - orcid.org/0000-0001-5889-4463 + Agenesis of premolar tooth. + HPO:ibailleulforestier - + - Failure of development of premolar - orcid.org/0000-0001-5889-4463 + Missing premolar + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Absence of bicuspid + ORCID:0000-0001-5889-4463 + Missing bicuspid - Agenesis of premolar tooth. - HPO:ibailleulforestier + Agenesis of bicuspid + ORCID:0000-0001-5889-4463 - + @@ -309016,46 +310376,45 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing maxillary premolar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of maxillary bicuspid - orcid.org/0000-0001-5889-4463 - Agenesis of maxillary bicuspid + ORCID:0000-0001-5889-4463 + Failure of development of maxillary premolar - Missing upper premolar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of upper premolar - orcid.org/0000-0001-5889-4463 - Failure of development of maxillary premolar + Absence of maxillary premolar + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 Missing maxillary premolar + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of upper premolar + Missing upper bicuspid + ORCID:0000-0001-5889-4463 - Absence of maxillary bicuspid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -309066,15 +310425,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Missing upper bicuspid + ORCID:0000-0001-5889-4463 + Agenesis of maxillary bicuspid - + - orcid.org/0000-0001-5889-4463 - Absence of maxillary premolar + ORCID:0000-0001-5889-4463 + Missing upper premolar + @@ -309119,42 +310479,42 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing lower premolar - orcid.org/0000-0001-5889-4463 - Absence of lower premolar + Failure of development of mandibular premolar + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Missing lower premolar + Agenesis of mandibular premolar. + HPO:ibailleulforestier - - + - orcid.org/0000-0001-5889-4463 Missing mandibular premolar + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of mandibular premolar + ORCID:0000-0001-5889-4463 + Absence of mandibular premolar - + - orcid.org/0000-0001-5889-4463 - Absence of mandibular premolar + ORCID:0000-0001-5889-4463 + Missing lower premolar + - Agenesis of mandibular premolar. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Absence of lower premolar - + + @@ -309198,36 +310558,36 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absence of molar - Failure of development of molar - orcid.org/0000-0001-5889-4463 + Absent molars + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Absence of molar - orcid.org/0000-0001-5889-4463 Missing molar + ORCID:0000-0001-5889-4463 - Agenesis of molar tooth. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Failure of development of molar - + - Absent molars + Agenesis of molar tooth. + HPO:ibailleulforestier - - + @@ -309273,36 +310633,42 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Absence of permanent molar + Missing adult molar + ORCID:0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 Failure of development of secondary molar - orcid.org/0000-0001-5889-4463 Absence of adult molar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of permanent molar + Agenesis of secondary molar + ORCID:0000-0001-5889-4463 - Missing adult molar - orcid.org/0000-0001-5889-4463 + Missing permanent molar + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Missing permanent molar + ORCID:0000-0001-5889-4463 + Absence of permanent molar - @@ -309312,17 +310678,11 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Agenesis of secondary molar + Failure of development of permanent molar + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Absence of permanent molar - - - @@ -309361,61 +310721,61 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Agenesis of six year molar Absence of first permanent molar Absence of six year molar - Failure of development of first permanent molar Missing first permanent molar + Failure of development of first permanent molar Failure of development of six year molar Missing six year molar - Absence of six year molar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing six year molar - orcid.org/0000-0001-5889-4463 - Failure of development of six year molar + Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. + HPO:ibailleulforestier - + - orcid.org/0000-0001-5889-4463 Failure of development of first permanent molar + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Missing first permanent molar + Agenesis of six year molar + ORCID:0000-0001-5889-4463 - - + - Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Absence of first permanent molar - + - orcid.org/0000-0001-5889-4463 - Absence of first permanent molar + ORCID:0000-0001-5889-4463 + Failure of development of six year molar - + - Missing six year molar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of six year molar - Agenesis of six year molar - orcid.org/0000-0001-5889-4463 + Missing first permanent molar + ORCID:0000-0001-5889-4463 - + + @@ -309461,54 +310821,54 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Missing second permanent molar - orcid.org/0000-0001-5889-4463 - Failure of development of second permanent molar - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Absence of second permanent molar - orcid.org/0000-0001-5889-4463 - Missing twelve year molar + ORCID:0000-0001-5889-4463 + Failure of development of second permanent molar - - + Failure of development of twelve year molar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Agenesis of either mandibular second permanent molar or maxillary second permanent molar. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Missing twelve year molar - + + + ORCID:0000-0001-5889-4463 Missing second permanent molar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of twelve year molar + + + + + + ORCID:0000-0001-5889-4463 Agenesis of twelve year molar - orcid.org/0000-0001-5889-4463 - Absence of twelve year molar - orcid.org/0000-0001-5889-4463 + Agenesis of either mandibular second permanent molar or maxillary second permanent molar. + HPO:ibailleulforestier - - + @@ -309531,29 +310891,29 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Generalized gum disease - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Generalized periodontal disease - orcid.org/0000-0001-5889-4463 - - Widespread gum disease - orcid.org/0000-0001-5889-4463 - - - - A generalized form of periodontitis. HPO:ibailleulforestier + + ORCID:0000-0001-5889-4463 + Widespread gum disease + + + + @@ -309593,6 +310953,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Limited area of gum disease Localized periodontal disease + + Localized periodontal disease + ORCID:0000-0001-5889-4463 + + + A localized form of periodontitis. HPO:ibailleulforestier @@ -309600,21 +310966,15 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Limited area of gum disease + Localized gum disease + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Localized periodontal disease - - - - - orcid.org/0000-0001-5889-4463 - Localized gum disease + ORCID:0000-0001-5889-4463 + Limited area of gum disease @@ -309640,8 +311000,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Dentinogenesis imperfecta of baby teeth - orcid.org/0000-0001-5889-4463 Dentinogenesis imperfecta of baby teeth + ORCID:0000-0001-5889-4463 @@ -309689,14 +311049,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of tooth part - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of tooth structure - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of tooth part @@ -309756,32 +311116,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of alignment of incisors - Crooked front teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of position of incisors - + - Abnormality of alignment of incisors - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Crooked incisors - orcid.org/0000-0001-5889-4463 - Crooked incisors + Crooked front teeth + ORCID:0000-0001-5889-4463 - - HPO:ibailleulforestier - Misaligned incisor. - - - Misalignment of incisors @@ -309789,18 +311143,24 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormality of position of incisors - orcid.org/0000-0001-5889-4463 + Malposition of incisors + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Malposition of incisors + HPO:ibailleulforestier + Misaligned incisor. + + + + + ORCID:0000-0001-5889-4463 + Abnormality of alignment of incisors - + @@ -309846,8 +311206,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-5889-4463 Abnormality of shape of incisor - orcid.org/0000-0001-5889-4463 @@ -309890,6 +311250,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormal number of front teeth + + ORCID:0000-0001-5889-4463 + Abnormal number of front teeth + + + + Abnormal number of incisors @@ -309902,13 +311269,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Abnormal number of front teeth - orcid.org/0000-0001-5889-4463 - - - - @@ -309961,35 +311321,35 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Cone shaped front tooth - orcid.org/0000-0001-5889-4463 - Cone shaped front tooth + An abnormal conical morphology of the incisor tooth. + HPO:ibailleulforestier - - + - Peg shaped front tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pointed front tooth - orcid.org/0000-0001-5889-4463 - Pointed front tooth + Shark tooth incisor + ORCID:0000-0001-5889-4463 - + - An abnormal conical morphology of the incisor tooth. - HPO:ibailleulforestier + ORCID:0000-0001-5889-4463 + Peg shaped front tooth - + + - orcid.org/0000-0001-5889-4463 - Shark tooth incisor + ORCID:0000-0001-5889-4463 + Cone shaped front tooth @@ -310023,26 +311383,26 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Median supernumary tooth - Extra tooth + Extra tooth in the midline + ORCID:0000-0001-5889-4463 - Mesiodentes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Median supernumary tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Midline supernumary tooth - orcid.org/0000-0001-5889-4463 - Midline supernumary tooth + Median supernumary tooth + ORCID:0000-0001-5889-4463 @@ -310054,9 +311414,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Extra tooth in the midline + Extra tooth + @@ -310165,27 +311525,27 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Supplemental dentition - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Supernumary dentition - + - orcid.org/0000-0001-5889-4463 - Hyperdontia + ORCID:0000-0001-5889-4463 + Increased tooth count + - Extra teeth - orcid.org/0000-0001-5889-4463 + Supernumary teeth + ORCID:0000-0001-5889-4463 - - + + ORCID:0000-0001-5889-4463 More teeth than normal - orcid.org/0000-0001-5889-4463 @@ -310197,33 +311557,33 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Supernumary dentition - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hyperdontia - + - Increased tooth count - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Extra teeth - Supernumary teeth - orcid.org/0000-0001-5889-4463 + Increased number of teeth - + + - Supplemental teeth - orcid.org/0000-0001-5889-4463 + Supplemental dentition + ORCID:0000-0001-5889-4463 - - Increased number of teeth + ORCID:0000-0001-5889-4463 + Supplemental teeth @@ -310273,7 +311633,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal shape of molar tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -310316,25 +311676,25 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of shape of permanent molar - An abnormality of morphology of permanent molar. - HPO:ibailleulforestier - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of shape of permanent molar + ORCID:0000-0001-5889-4463 Abnormality of shape of adult molar - orcid.org/0000-0001-5889-4463 + + An abnormality of morphology of permanent molar. + HPO:ibailleulforestier + + + @@ -310380,42 +311740,36 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Tooth with dentin dysplasia type i - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Agenesis of tooth root - Tooth with dentin dysplasia type i - orcid.org/0000-0001-5889-4463 - - - - - Teeth without roots - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of tooth root - orcid.org/0000-0001-5889-4463 Missing tooth root + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of tooth root + ORCID:0000-0001-5889-4463 + Aplasia of tooth root - - Aplasia of tooth root - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Teeth without roots + @@ -310424,6 +311778,12 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + Tooth with dentin dysplasia type i + ORCID:0000-0001-5889-4463 + + + @@ -310464,15 +311824,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of dental shade - Abnormality of tooth shade - orcid.org/0000-0001-5889-4463 + Abnormality of dental color + + ORCID:0000-0001-5889-4463 + Abnormality of dental shade + + + Abnormality of tooth color - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -310484,13 +311849,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Abnormality of dental shade - - - - - Abnormality of dental color + ORCID:0000-0001-5889-4463 + Abnormality of tooth shade @@ -310538,16 +311898,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Localized hypoplasia of tooth enamel - orcid.org/0000-0001-5889-4463 - Localized dysplasia of tooth enamel + Localized hypoplasia of tooth enamel + ORCID:0000-0001-5889-4463 - + - Localized hypoplasia of tooth enamel - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Localized dysplasia of tooth enamel - + A localized form of developmental hypoplasia of the dental enamel. @@ -310595,14 +311955,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Green tooth shade - Green tooth shade - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 - Green colored teeth + Green teeth @@ -310614,7 +311967,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Green teeth + Green tooth shade + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 + Green colored teeth @@ -310656,12 +312016,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormality of bicuspid - - Abnormality of premolar - - - - An abnormality of premolar tooth. HPO:ibailleulforestier @@ -310669,8 +312023,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + Abnormality of premolar + + + + + + ORCID:0000-0001-5889-4463 Abnormality of bicuspid - orcid.org/0000-0001-5889-4463 @@ -310766,8 +312126,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 Abnormality of eye tooth + ORCID:0000-0001-5889-4463 @@ -310802,8 +312162,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + Impacted tooth + + + + + + ORCID:0000-0001-5889-4463 Buried tooth - orcid.org/0000-0001-5889-4463 @@ -310814,12 +312180,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Impacted tooth - - - - @@ -310859,27 +312219,27 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of shape of premolar Abnormality of shape of bicuspid - - An abnormality of morphology of premolar tooth. - HPO:ibailleulforestier - - - Abnormality of bicuspid morphology - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Abnormality of shape of premolar + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + An abnormality of morphology of premolar tooth. + HPO:ibailleulforestier + + + + + ORCID:0000-0001-5889-4463 Abnormality of shape of bicuspid @@ -310927,29 +312287,29 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Increased size of incisor - orcid.org/0000-0001-5889-4463 - Increased width of incisor + Large incisor + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 Increased size of incisor - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Large incisor + ORCID:0000-0001-5889-4463 + Increased width of incisor - + - orcid.org/0000-0001-5889-4463 - Hyperplasia of incisor + ORCID:0000-0001-5889-4463 + Hypertrophy of incisor @@ -310960,8 +312320,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Hypertrophy of incisor + ORCID:0000-0001-5889-4463 + Hyperplasia of incisor @@ -311009,23 +312369,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Conoid primary incisor - Peg shaped primary incisor - orcid.org/0000-0001-5889-4463 + Conoid primary incisor + ORCID:0000-0001-5889-4463 - - + - Primary front shark tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cone shaped front baby tooth + - orcid.org/0000-0001-5889-4463 - Conoid primary incisor + Pointed primary incisor - + + An abnormal conical morphology of the primary incisor. @@ -311034,36 +312394,36 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Conical deciduous incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Primary front shark tooth - Peg shaped front baby tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Pointed front baby tooth - Pointed front baby tooth - orcid.org/0000-0001-5889-4463 + Peg shaped front baby tooth + ORCID:0000-0001-5889-4463 - Pointed primary incisor + Peg shaped primary incisor + ORCID:0000-0001-5889-4463 - Cone shaped front baby tooth - orcid.org/0000-0001-5889-4463 + Conical deciduous incisor + ORCID:0000-0001-5889-4463 - @@ -311115,51 +312475,51 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Cone shaped maxillary incisor - - - - - orcid.org/0000-0001-5889-4463 Pointed maxillary incisor + ORCID:0000-0001-5889-4463 - Pointed upper front tooth - orcid.org/0000-0001-5889-4463 + Cone shaped maxillary incisor + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Conoid maxillary incisor + ORCID:0000-0001-5889-4463 + Upper front shark tooth + + ORCID:0000-0001-5889-4463 Cone shaped upper front tooth - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Peg shaped upper front tooth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Upper front shark tooth + Conoid maxillary incisor + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 + Pointed upper front tooth + + + + @@ -311178,20 +312538,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Decreased enamel calcification - A form of hypomineralization of enamel characterized by reduced calcification. - pmid:18499550 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Poorly calcified tooth enamel - orcid.org/0000-0001-5889-4463 + A form of hypomineralization of enamel characterized by reduced calcification. + pmid:18499550 + + + + + ORCID:0000-0001-5889-4463 Decreased enamel calcification @@ -311218,12 +312578,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Soft tooth enamel Immature tooth enamel - - orcid.org/0000-0001-5889-4463 - Immature tooth enamel - - - A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. HPO:ibailleulforestier @@ -311231,14 +312585,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Soft teeth - orcid.org/0000-0001-5889-4463 + Immature tooth enamel + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 Soft tooth enamel @@ -311287,7 +312647,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Dentinogenesis imperfecta of both sets of teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -311298,7 +312658,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Dentinogenesis imperfecta of adult and baby teeth @@ -311327,21 +312687,21 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 Extra cusp on inside of front tooth + ORCID:0000-0001-5889-4463 - HPO:skoehler - Talon cusps + ORCID:0000-0001-5889-4463 + Dens evaginatus - Dens evaginatus - orcid.org/0000-0001-5889-4463 + HPO:skoehler + Talon cusps @@ -311378,16 +312738,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 - Dens invaginatus + ORCID:0000-0001-5889-4463 + Tooth within a tooth + - Tooth within a tooth - orcid.org/0000-0001-5889-4463 + Dens invaginatus + ORCID:0000-0001-5889-4463 - @@ -311409,12 +312769,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Conjoined teeth - - A dental anomaly characterized by the presence of a two fused teeth. - HPO:ibailleulforestier - - - Double tooth @@ -311422,8 +312776,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - orcid.org/0000-0001-5889-4463 + A dental anomaly characterized by the presence of a two fused teeth. + HPO:ibailleulforestier + + + + Conjoined teeth + ORCID:0000-0001-5889-4463 @@ -311450,23 +312810,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. - pmid:18167487 + Fused teeth - + + + ORCID:0000-0001-5889-4463 Fusion of teeth - orcid.org/0000-0001-5889-4463 - Fused teeth + The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. + pmid:18167487 - - + Joined teeth @@ -311494,20 +312854,20 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Splitting of crown of tooth - The development of two teeth from a single tooth bud, leading to a larger fused tooth. - pmid:18167487 - - - - + ORCID:0000-0001-5889-4463 Splitting of crown of tooth - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + The development of two teeth from a single tooth bud, leading to a larger fused tooth. + pmid:18167487 + + + + + ORCID:0000-0001-5889-4463 Gemination of tooth @@ -311530,16 +312890,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Syphilitic permanent first molar - HPO:19179952 - Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. + ORCID:0000-0001-5889-4463 + Syphilitic permanent first molar - + - orcid.org/0000-0001-5889-4463 - Syphilitic permanent first molar + HPO:19179952 + Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. - + @@ -311584,44 +312944,44 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Molar shape of bicuspid - orcid.org/0000-0001-5889-4463 - Molar shape of bicuspid + ORCID:0000-0001-5889-4463 + Molar shape of premolar + - HPO:ibailleulforestier - Increased size and molar morphology of premolar tooth. - pmid:15587104 + ORCID:0000-0001-5889-4463 + Increased size of premolar - + + - Increased size of premolar - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Enlarged premolar - Molar shape of premolar - orcid.org/0000-0001-5889-4463 + Molarization of bicuspid + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Molarization of bicuspid + Molar shape of bicuspid + ORCID:0000-0001-5889-4463 - Enlarged premolar - orcid.org/0000-0001-5889-4463 + HPO:ibailleulforestier + Increased size and molar morphology of premolar tooth. + pmid:15587104 - - + @@ -311651,34 +313011,34 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Deep bite - Overbite + ORCID:0000-0001-5889-4463 + Scissors bite - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased overlap of upper and lower incisors - Scissors bite - orcid.org/0000-0001-5889-4463 + Overbite - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deep bite + ORCID:0000-0001-5889-4463 Deep overbite - orcid.org/0000-0001-5889-4463 @@ -311719,33 +313079,33 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Buck teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Upper teeth sticking out forward - orcid.org/0000-0001-5889-4463 - Abnormality of horizontal incisor relationship + Buck teeth + ORCID:0000-0001-5889-4463 - + + + ORCID:0000-0001-5889-4463 Protrusion of the maxillary incisors - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Upper teeth sticking out forward + ORCID:0000-0001-5889-4463 + Abnormality of horizontal incisor relationship - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Protrusion of upper teeth in front of lower teeth @@ -312046,8 +313406,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Fluid overload in blood + ORCID:0000-0001-5208-3432 https://en.wikipedia.org/wiki/hypervolemia - http://orcid.org/0000-0001-5208-3432 Fluid overload in blood @@ -312078,7 +313438,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Depleted blood volume - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Depleted blood volume @@ -312116,18 +313476,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Canker sore - - - - HPO:probinson Recurrent episodes of ulceration of the oral mucosa. + + Canker sore + + + + @@ -312150,23 +313510,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Recurrent sinus disease - A recurrent form of sinusitis. - HPO:probinson + HPO:skoehler + Sinusitis, recurrent - + + ORCID:0000-0001-5889-4463 Recurrent sinus disease - orcid.org/0000-0001-5889-4463 - HPO:skoehler - Sinusitis, recurrent + A recurrent form of sinusitis. + HPO:probinson - + @@ -312188,23 +313548,23 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Chronic sinus disease - A chronic form of sinusitis. - HPO:probinson + HPO:skoehler + Sinusitis, chronic - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Chronic sinus disease - HPO:skoehler - Sinusitis, chronic + A chronic form of sinusitis. + HPO:probinson - + @@ -312260,6 +313620,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + + ORCID:0000-0001-5208-3432 + Inflammation of tonsils + + + + HPO:skoehler @@ -312295,13 +313662,6 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - - Inflammation of tonsils - orcid.org/0000-0001-5208-3432 - - - - @@ -312492,16 +313852,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormality of cachectin secretion + ORCID:0000-0001-6908-9849 https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha - http://orcid.org/0000-0001-6908-9849 Abnormality of cachexin secretion - http://orcid.org/0000-0001-6908-9849 Abnormality of cachectin secretion https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha + ORCID:0000-0001-6908-9849 @@ -312555,85 +313915,85 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Deformity of the dorsum of the nose - Deformity of the dorsum of the nose - orcid.org/0000-0001-5889-4463 + Abnormality of the dorsum of nose + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Deformity of the nasal ridge + Crooked dorsum of nose + ORCID:0000-0001-5889-4463 - An abnormality of the nasal dorsum, also known as the nasal ridge. - HPO:probinson - pmid:19152422 - - - - - orcid.org/0000-0001-5889-4463 - Malformation of the dorsum of nose + Crooked nasal ridge + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Malformation of the nasal ridge - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Crooked nasal ridge + Malformation of the nasal dorsum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of the nasal ridge + Deformity of the nasal ridge + ORCID:0000-0001-5889-4463 - + - Crooked dorsum of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Crooked nasal dorsum - Crooked nasal dorsum - orcid.org/0000-0001-5889-4463 + An abnormality of the nasal dorsum, also known as the nasal ridge. + HPO:probinson + pmid:19152422 + + + + + Abnormality of the nasal ridge + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Malformation of the nasal dorsum + ORCID:0000-0001-5889-4463 + Malformation of the dorsum of nose - orcid.org/0000-0001-5889-4463 Deformity of the nasal dorsum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of the dorsum of nose + Deformity of the dorsum of the nose + ORCID:0000-0001-5889-4463 - + @@ -312662,63 +314022,63 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - HPO:probinson - Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. - pmid:19152422 - - - - - Saddle shaped nasal dorsum - orcid.org/0000-0001-5889-4463 + Boxer's nasal deformity + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 Boxer's nose deformity - orcid.org/0000-0001-5889-4463 - Saddle nose + Ski jump nose - orcid.org/0000-0001-5889-4463 - Boxer's nasal deformity + ORCID:0000-0001-5889-4463 + Concave nasal dorsum - - HPO:skoehler - Saddle nose deformity + HPO:probinson + Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. + pmid:19152422 - - + - Concave nasal dorsum - orcid.org/0000-0001-5889-4463 + Saddle nose + - Ski jump nose + Concave dorsum of nose + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Concave dorsum of nose + ORCID:0000-0001-5889-4463 + Saddle shaped nasal dorsum + + HPO:skoehler + Saddle nose deformity + + + + @@ -312755,11 +314115,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Abnormal skin morphology Abnormal skin structure + Fyler:4133 - Abnormal skin morphology - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormal skin structure + @@ -312769,10 +314131,9 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Abnormal skin structure - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormal skin morphology - @@ -312811,18 +314172,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy human_phenotype peter - - Any abnormality of the physiological function of the skin. - HPO:probinson - - - Abnormality of skin physiology + + Any abnormality of the physiological function of the skin. + HPO:probinson + + + @@ -312887,13 +314248,13 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Inflammatory abnormality of the skin + Skin inflammation - Skin inflammation + Inflammatory abnormality of the skin @@ -312979,16 +314340,16 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Renal ptosis - orcid.org/0000-0001-6908-9849 - Renal ptosis + ORCID:0000-0001-6908-9849 + Floating kidney + - orcid.org/0000-0001-6908-9849 - Floating kidney + Renal ptosis + ORCID:0000-0001-6908-9849 - @@ -313022,8 +314383,8 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy + ORCID:0000-0001-6908-9849 Eczema around the mouth - orcid.org/0000-0001-6908-9849 @@ -313201,18 +314562,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter Increased sensitivity to ionising radiation - - orcid.org/0000-0001-6908-9849 - Increased sensitivity to ionising radiation - - - An abnormally increased sensitivity to the effects of ionizing radiation. HPO:probinson + + Increased sensitivity to ionising radiation + ORCID:0000-0001-6908-9849 + + + @@ -313232,14 +314593,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Mild fever - orcid.org/0000-0001-6908-9849 - Mild fever + Low-grade fever - Low-grade fever + ORCID:0000-0001-6908-9849 + Mild fever @@ -313294,14 +314655,14 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped sweat glands - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/small sweat glands @@ -313345,7 +314706,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy peter - Lack of sweat glands + Absent sweat glands @@ -313357,7 +314718,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy - Absent sweat glands + Lack of sweat glands @@ -313380,18 +314741,18 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Non-itchy hives - HPO:probinson - Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Non-itchy hives + + HPO:probinson + Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. + + + @@ -313430,7 +314791,7 @@ TRH will normally cause the release of TSH from the pituitary gland. When the hy Abnormal skin appendage - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -313808,7 +315169,7 @@ has elapsed. Early onset petit mal seizures - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -313833,6 +315194,12 @@ has elapsed. Partial motor seizures Localized motor seizures + + Partial motor seizures + ORCID:0000-0001-6908-9849 + + + Focal seizures involving musculature in any form. HPO:jalbers @@ -313840,14 +315207,8 @@ has elapsed. + ORCID:0000-0001-6908-9849 Localized motor seizures - orcid.org/0000-0001-6908-9849 - - - - - orcid.org/0000-0001-6908-9849 - Partial motor seizures @@ -313890,14 +315251,14 @@ has elapsed. Localized autonomic seizures with altered responsiveness - Partial autonomic seizures with altered responsiveness - orcid.org/0000-0001-6908-9849 + Localized autonomic seizures with altered responsiveness + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 - Localized autonomic seizures with altered responsiveness + Partial autonomic seizures with altered responsiveness + ORCID:0000-0001-6908-9849 @@ -313924,24 +315285,24 @@ has elapsed. Partial autonomic seizures without altered responsiveness Localized autonomic seizures without altered responsiveness - - An autonomic seizure without altered responsiveness. - HPO:jalbers - - - Localized autonomic seizures without altered responsiveness - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Partial autonomic seizures without altered responsiveness + + An autonomic seizure without altered responsiveness. + HPO:jalbers + + + @@ -313990,7 +315351,7 @@ has elapsed. Auras associated with hearing - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -314012,8 +315373,8 @@ has elapsed. Visceral aura + ORCID:0000-0001-6908-9849 Visceral aura - orcid.org/0000-0001-6908-9849 @@ -314025,7 +315386,7 @@ has elapsed. Abdominal aura - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -314055,8 +315416,8 @@ has elapsed. http://medical-dictionary.thefreedictionary.com/gustatory+aura - orcid.org/0000-0001-5208-3432 Taste hallucinations + ORCID:0000-0001-5208-3432 @@ -314187,14 +315548,14 @@ has elapsed. Partial myoclonic seizures - orcid.org/0000-0001-6908-9849 - Partial myoclonic seizures + ORCID:0000-0001-6908-9849 + Local myoclonic seizures - Local myoclonic seizures - orcid.org/0000-0001-6908-9849 + Partial myoclonic seizures + ORCID:0000-0001-6908-9849 @@ -314216,12 +315577,6 @@ has elapsed. Partial tonic seizures Local tonic seizures - - Partial tonic seizures - orcid.org/0000-0001-6908-9849 - - - HPO:jalbers Seizures with sustained increase in muscle contraction in parts of the body lasting a few seconds to minutes. @@ -314230,7 +315585,13 @@ has elapsed. Local tonic seizures - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + + + + + Partial tonic seizures + ORCID:0000-0001-6908-9849 @@ -314319,24 +315680,24 @@ has elapsed. Simple febrile convulsion - Simple fever fit - https://en.wikipedia.org/wiki/febrile_seizure - orcid.org/0000-0001-5208-3432 + Febrile seizures with generalized tonic-clonic semiology, duration less than 15 minutes, and without recurrence within the next 24 hours. + HPO:jalbers - + - https://en.wikipedia.org/wiki/febrile_seizure Simple febrile convulsion - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + https://en.wikipedia.org/wiki/febrile_seizure - Febrile seizures with generalized tonic-clonic semiology, duration less than 15 minutes, and without recurrence within the next 24 hours. - HPO:jalbers + ORCID:0000-0001-5208-3432 + Simple fever fit + https://en.wikipedia.org/wiki/febrile_seizure - + @@ -314510,18 +315871,18 @@ has elapsed. human_phenotype Beta wave electroencephalography - - orcid.org/0000-0001-6908-9849 - Beta wave electroencephalography - - - EEG dominated by diffuse beta-waves (>13 Hz). HPO:jalbers + + ORCID:0000-0001-6908-9849 + Beta wave electroencephalography + + + @@ -315328,41 +316689,41 @@ has elapsed. Abnormal shape of posterior cranium - An abnormal shape of occiput. - HPO:probinson + Abnormal shape of the back of the skull + ORCID:0000-0001-5889-4463 - + + - Abnormal shape of posterior head - orcid.org/0000-0001-5889-4463 + Abnormal shape of the back of the head + ORCID:0000-0001-5889-4463 - Abnormal shape of the back of the skull - orcid.org/0000-0001-5889-4463 + An abnormal shape of occiput. + HPO:probinson - - + - Abnormal shape of posterior cranium - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormal shape of posterior skull + - Abnormal shape of posterior skull - orcid.org/0000-0001-5889-4463 + Abnormal shape of posterior cranium + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Abnormal shape of the back of the head + Abnormal shape of posterior head + ORCID:0000-0001-5889-4463 @@ -315407,35 +316768,35 @@ has elapsed. Dysmorphic frontal region - Abnormal morphology of the frontal region - orcid.org/0000-0001-5889-4463 + Abnormal shape of the forehead + ORCID:0000-0001-5889-4463 + - Dysmorphic forehead - orcid.org/0000-0001-5889-4463 + An abnormal shape of the frontal part of the head. + HPO:probinson - + - orcid.org/0000-0001-5889-4463 - Abnormal shape of the forehead + Dysmorphic frontal region + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Dysmorphic frontal region + Dysmorphic forehead + ORCID:0000-0001-5889-4463 - An abnormal shape of the frontal part of the head. - HPO:probinson + Abnormal morphology of the frontal region + ORCID:0000-0001-5889-4463 - + @@ -315486,40 +316847,46 @@ has elapsed. - orcid.org/0000-0001-5889-4463 - Decreased height of face + Decreased vertical dimension of face + ORCID:0000-0001-5889-4463 - - Decreased length of face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Vertical hypoplasia of face + + + + + Short face - orcid.org/0000-0001-5889-4463 - Vertical deficiency of face + ORCID:0000-0001-5889-4463 + Vertical facial insufficiency - Short face + Decreased height of face + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Short facies + ORCID:0000-0001-5889-4463 + Vertical shortening of face + - orcid.org/0000-0001-5889-4463 - Decreased vertical dimension of face + ORCID:0000-0001-5889-4463 + Short facies @@ -315530,33 +316897,27 @@ has elapsed. - orcid.org/0000-0001-5889-4463 - Vertical shortening of face - - - - - - orcid.org/0000-0001-5889-4463 - Vertical Facial Deficiency + ORCID:0000-0001-5889-4463 + Vertical insufficiency of face - orcid.org/0000-0001-5889-4463 - Vertical facial insufficiency + Decreased length of face + ORCID:0000-0001-5889-4463 + - Vertical hypoplasia of face - orcid.org/0000-0001-5889-4463 + Vertical deficiency of face + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Vertical insufficiency of face + ORCID:0000-0001-5889-4463 + Vertical Facial Deficiency @@ -315584,12 +316945,6 @@ has elapsed. Prominence of frontal region - - Bulging forehead - - - - Forward prominence of the entire forehead, due to protrusion of the frontal bone. pmid:19125436 @@ -315597,28 +316952,34 @@ has elapsed. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Pronounced forehead - Protruding forehead + Prominent forehead - Prominent forehead + ORCID:0000-0001-5889-4463 + Prominence of frontal region - - orcid.org/0000-0001-5889-4463 - Prominence of frontal region + Bulging forehead + + + + + Protruding forehead + + @@ -315641,6 +317002,12 @@ has elapsed. Frontal creases of face + + Vertical forehead wrinkles + + + + Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. pmid:19125436 @@ -315654,14 +317021,8 @@ has elapsed. - Vertical forehead wrinkles - - - - - - orcid.org/0000-0001-5889-4463 Frontal creases of face + ORCID:0000-0001-5889-4463 @@ -315696,15 +317057,15 @@ has elapsed. - orcid.org/0000-0001-5889-4463 - Flat area between the eyebrows + ORCID:0000-0001-5889-4463 + Deficient area between the eyebrows - orcid.org/0000-0001-5889-4463 - Deficient area between the eyebrows + ORCID:0000-0001-5889-4463 + Flat area between the eyebrows @@ -315729,17 +317090,11 @@ has elapsed. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Depression of metopic cranial suture - - Frontal suture depression - orcid.org/0000-0001-5889-4463 - - - Linear vertical groove in the midline of the forehead, extending from hairline to glabella. pmid:19125436 @@ -315747,7 +317102,13 @@ has elapsed. - orcid.org/0000-0001-5889-4463 + Frontal suture depression + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 Depression of frontal cranial suture @@ -315799,12 +317160,6 @@ has elapsed. Ablepharon of eyelid - - Agenesis of eyelids - orcid.org/0000-0001-5889-4463 - - - Absent eyelids @@ -315818,12 +317173,18 @@ has elapsed. + ORCID:0000-0001-5889-4463 Missing eyelids - orcid.org/0000-0001-5889-4463 + + Agenesis of eyelids + ORCID:0000-0001-5889-4463 + + + @@ -315886,24 +317247,24 @@ has elapsed. Hypotrophic eyelid - orcid.org/0000-0001-5889-4463 Failure of development of eyelid + ORCID:0000-0001-5889-4463 - - Hypotrophic eyelid - orcid.org/0000-0001-5889-4463 - - - Absence or underdevelopment of the eyelid. HPO:probinson + + ORCID:0000-0001-5889-4463 + Hypotrophic eyelid + + + @@ -315950,19 +317311,6 @@ has elapsed. Lack of eyebrow curvature - - HPO:skoehler - Straight eyebrows - - - - - - An eyebrow that extends straight across the brow, without curve. - pmid:19125427 - - - Horizontal eyebrow @@ -315970,32 +317318,45 @@ has elapsed. - Straight eyebrow + Flat eyebrow + ORCID:0000-0001-5889-4463 - Flat eyebrow - orcid.org/0000-0001-5889-4463 + Straight eyebrow - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Lack of eyebrow curvature + An eyebrow that extends straight across the brow, without curve. + pmid:19125427 + + + + + ORCID:0000-0001-5889-4463 Lack of eyebrow arch - orcid.org/0000-0001-5889-4463 + + HPO:skoehler + Straight eyebrows + + + + @@ -316041,28 +317402,34 @@ has elapsed. - Flared eyebrows - HPO:skoehler + Regional increase in the width (height) of the eyebrow. + pmid:19125427 - - + - Flared eyebrow + Broad eyebrows + HPO:skoehler Increased vertical thickness of eyebrow - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + + + + + Flared eyebrow - orcid.org/0000-0001-5889-4463 Increased vertical width of eyebrow + ORCID:0000-0001-5889-4463 @@ -316074,24 +317441,18 @@ has elapsed. - Regional increase in the width (height) of the eyebrow. - pmid:19125427 - - - - - HPO:skoehler - Broad eyebrows + ORCID:0000-0001-5889-4463 + Increased vertical height of eyebrow - orcid.org/0000-0001-5889-4463 - Increased vertical height of eyebrow + Flared eyebrows + HPO:skoehler - + @@ -316113,14 +317474,21 @@ has elapsed. Laterally elongated eyebrow + ORCID:0000-0001-5889-4463 Laterally elongated eyebrow - orcid.org/0000-0001-5889-4463 + + Laterally extended eyebrows + + + + + Increased lateral length of eyebrow - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -316130,13 +317498,6 @@ has elapsed. - - Laterally extended eyebrows - - - - - @@ -316155,12 +317516,6 @@ has elapsed. peter Thick eyelashes - - Prominent eyelashes - - - - Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. pmid:19125427 @@ -316168,12 +317523,18 @@ has elapsed. - orcid.org/0000-0001-5889-4463 Thick eyelashes + ORCID:0000-0001-5889-4463 + + Prominent eyelashes + + + + @@ -316762,15 +318123,15 @@ has elapsed. - Buried ear - HPO:orcid.org/0000-0001-5889-4463 + Hidden ear + ORCID:0000-0001-5889-4463 - Hidden ear - HPO:orcid.org/0000-0001-5889-4463 + Buried ear + ORCID:0000-0001-5889-4463 @@ -317021,12 +318382,6 @@ has elapsed. - - Forward facing earlobe - - - - HPO:probinson Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. @@ -317034,6 +318389,12 @@ has elapsed. + + Forward facing earlobe + + + + @@ -317094,18 +318455,18 @@ has elapsed. peter - - Cleft earlobe - - - - Discontinuity in the convexity of the inferior margin of the lobe. pmid:19152421 + + Cleft earlobe + + + + @@ -317149,18 +318510,18 @@ has elapsed. Abnormal shape/structure of ear - Presence of some auricular structures, but none of these structures conform to recognized ear components. - pmid:19152421 - - - - + ORCID:0000-0001-6908-9849 Abnormal shape/structure of ear - orcid.org/0000-0001-6908-9849 + + Presence of some auricular structures, but none of these structures conform to recognized ear components. + pmid:19152421 + + + @@ -317241,18 +318602,18 @@ has elapsed. human_phenotype peter - - Notched tragus - - - - Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. pmid:19152421 + + Notched tragus + + + + @@ -317344,20 +318705,20 @@ has elapsed. - HPO:skoehler - Hypertrophic tragus + Increase posterolateral protrusion of the tragus. + pmid:19152421 - + - Tragus, prominent + Hypertrophic tragus HPO:skoehler + Tragus, prominent HPO:skoehler - Hyperplastic tragus @@ -317368,10 +318729,10 @@ has elapsed. - Increase posterolateral protrusion of the tragus. - pmid:19152421 + HPO:skoehler + Hyperplastic tragus - + @@ -317437,8 +318798,8 @@ has elapsed. Unequal size of red blood cells - orcid.org/0000-0001-5208-3432 https://en.wikipedia.org/wiki/anisocytosis + ORCID:0000-0001-5208-3432 @@ -317769,18 +319130,18 @@ has elapsed. Abnormal shape of hindbrain - An abnormality of the hindbrain, also known as the rhombencephalon. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Abnormal shape of hindbrain - orcid.org/0000-0001-5208-3432 + + An abnormality of the hindbrain, also known as the rhombencephalon. + HPO:probinson + + + @@ -318137,18 +319498,18 @@ has elapsed. Abnormality of fingers or toes - - A morphological abnormality of a digit, i.e., of a finger or toe. - HPO:probinson - - - Abnormality of fingers or toes + + A morphological abnormality of a digit, i.e., of a finger or toe. + HPO:probinson + + + @@ -318166,18 +319527,18 @@ has elapsed. human_phenotype peter - - A soft tissue prominence of the ventral aspects of the fingertips or toe tips. - pmid:19125433 - - - Prominent digit pad + + A soft tissue prominence of the ventral aspects of the fingertips or toe tips. + pmid:19125433 + + + @@ -318248,10 +319609,10 @@ has elapsed. - Increased width of the distal segment of a finger. - pmid:19125433 + Broad fingertip - + + HPO:skoehler @@ -318261,10 +319622,10 @@ has elapsed. - Broad fingertip + Increased width of the distal segment of a finger. + pmid:19125433 - - + @@ -318439,7 +319800,7 @@ has elapsed. - Wide/broad thumb + Broad thumbs @@ -318450,18 +319811,18 @@ has elapsed. - - Broad thumbs - - - - Increased thumb width without increased dorso-ventral dimension. pmid:19125433 + + Wide/broad thumb + + + + @@ -318480,18 +319841,18 @@ has elapsed. hecht human_phenotype - - Partial absence of toe - - - - The absence of a phalangeal segment of a toe or hallux. pmid:19125433 + + Partial absence of toe + + + + @@ -318508,18 +319869,18 @@ has elapsed. hecht human_phenotype - - Splayed toes - - - - Divergence of digits along the anteroposterior axis (in the plane of the sole). pmid:19125433 + + Splayed toes + + + + @@ -318559,7 +319920,7 @@ has elapsed. human_phenotype - Slender toe + Narrow toe @@ -318571,7 +319932,7 @@ has elapsed. - Narrow toe + Slender toe @@ -318615,18 +319976,18 @@ has elapsed. hecht human_phenotype - - The gradual reduction in girth of the digit from proximal to distal. - pmid:19125433 - - - Tapering toes + + The gradual reduction in girth of the digit from proximal to distal. + pmid:19125433 + + + Tapered toe @@ -318652,18 +320013,18 @@ has elapsed. Bridged palm line - A crease that connects the proximal and distal transverse palmar creases. - pmid:19125433 - - - - - orcid.org/0000-0001-5208-3432 Bridged palm line + ORCID:0000-0001-5208-3432 + + A crease that connects the proximal and distal transverse palmar creases. + pmid:19125433 + + + @@ -318703,18 +320064,18 @@ has elapsed. hecht human_phenotype - - Fused nails - - - - A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. pmid:19125433 + + Fused nails + + + + @@ -318805,8 +320166,8 @@ has elapsed. Abnormal shape of long bone - orcid.org/0000-0001-5208-3432 Abnormal shape of long bone + ORCID:0000-0001-5208-3432 @@ -318837,22 +320198,22 @@ has elapsed. Unilateral coronal suture synostosis - orcid.org/0000-0001-5889-4463 - Unilateral coronal suture craniosynostosis + DDD:awilkie + Synostosis affecting only one of the coronal sutures. - + - orcid.org/0000-0001-5889-4463 Unilateral coronal suture synostosis + ORCID:0000-0001-5889-4463 - DDD:awilkie - Synostosis affecting only one of the coronal sutures. + Unilateral coronal suture craniosynostosis + ORCID:0000-0001-5889-4463 - + @@ -318916,26 +320277,26 @@ has elapsed. - DDD:awilkie - Synostosis affecting the right and the left coronal suture. + ORCID:0000-0001-5889-4463 + Bilateral coronal suture craniosynostosis - + Bilateral coronal craniosynostosis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Bilateral coronal suture craniosynostosis + DDD:awilkie + Synostosis affecting the right and the left coronal suture. - + - orcid.org/0000-0001-5889-4463 Bilateral coronal suture synostosis + ORCID:0000-0001-5889-4463 @@ -318964,8 +320325,8 @@ has elapsed. + ORCID:0000-0001-5889-4463 Bilateral lambdoid craniosynostosis - orcid.org/0000-0001-5889-4463 @@ -318987,18 +320348,18 @@ has elapsed. Unilateral lambdoid craniosynostosis - - orcid.org/0000-0001-5889-4463 - Unilateral lambdoid craniosynostosis - - - DDD:awilkie Premature synostosis of only one lambdoid suture. + + Unilateral lambdoid craniosynostosis + ORCID:0000-0001-5889-4463 + + + @@ -319078,12 +320439,6 @@ has elapsed. peter Midline defect of chin - - Cleft of chin - - - - DDD:jclayton-smith Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. @@ -319092,10 +320447,16 @@ has elapsed. Midline defect of chin - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + Cleft of chin + + + + @@ -319142,8 +320503,8 @@ has elapsed. + ORCID:0000-0001-5889-4463 Sysnostosis of all cranial sutures - orcid.org/0000-0001-5889-4463 @@ -319177,26 +320538,39 @@ has elapsed. Deformational frontal plagiocephaly + HPO:skoehler + Deformational frontal plagiocephaly + + + + + ORCID:0000-0001-5889-4463 + Unicoronal craniosynostosis + + + + + ORCID:0000-0001-5889-4463 Positional frontal plagiocephaly - orcid.org/0000-0001-5889-4463 - HPO:skoehler - Deformational frontal plagiocephaly + ORCID:0000-0001-5889-4463 + Frontal plagiocephaly - orcid.org/0000-0001-5889-4463 - Coronal synostosis + Anterior flat head syndrome + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Unicoronal craniosynostosis + Coronal synostosis + ORCID:0000-0001-5889-4463 @@ -319207,27 +320581,14 @@ has elapsed. - orcid.org/0000-0001-5889-4463 Positional anterior plagiocephaly + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Anterior flat head syndrome - - - - - - orcid.org/0000-0001-5889-4463 - Frontal plagiocephaly - - - - + ORCID:0000-0001-5889-4463 Deformational anterior plagiocephaly - orcid.org/0000-0001-5889-4463 @@ -319249,12 +320610,6 @@ has elapsed. peter Deformational posterior plagiocephaly - - Deformational posterior plagiocephaly - HPO:skoehler - - - Asymmetry of the posterior part of the skull. DDD:awilkie @@ -319262,6 +320617,12 @@ has elapsed. + + HPO:skoehler + Deformational posterior plagiocephaly + + + @@ -319389,7 +320750,7 @@ has elapsed. Metopic craniosynostosis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -319419,6 +320780,12 @@ has elapsed. Decrease in size of one side of the face + + Atrophy of one side of the face + ORCID:0000-0001-5889-4463 + + + DDD:awilkie Unilateral atrophy of facial tissues, including muscles, bones and skin. @@ -319426,50 +320793,44 @@ has elapsed. - Shrinking of one side of the face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Facial hemiatrophy - - orcid.org/0000-0001-5889-4463 - Decrease in size of half of face + ORCID:0000-0001-5889-4463 + Atrophy of half of face - orcid.org/0000-0001-5889-4463 - Atrophy of one side of the face - - - - - orcid.org/0000-0001-5889-4463 Shrinking of half of face + ORCID:0000-0001-5889-4463 - Atrophy of half of face - orcid.org/0000-0001-5889-4463 + Shrinking of one side of the face + ORCID:0000-0001-5889-4463 - Decrease in size of one side of the face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decrease in size of half of face - orcid.org/0000-0001-5889-4463 - Facial hemiatrophy + Decrease in size of one side of the face + ORCID:0000-0001-5889-4463 + @@ -319493,6 +320854,13 @@ has elapsed. Hemifacial microsomia Decreased size of one side of the face + + ORCID:0000-0001-5889-4463 + Decreased size of half of the face + + + + DDD:awilkie Unilateral underdevelopment of the facial tissues, including muscles and bones. @@ -319500,15 +320868,8 @@ has elapsed. - orcid.org/0000-0001-5889-4463 Decreased size of one side of the face - - - - - - orcid.org/0000-0001-5889-4463 - Decreased size of half of the face + ORCID:0000-0001-5889-4463 @@ -319535,30 +320896,30 @@ has elapsed. Partial unilateral facial paresis Hypoplasia of depressor angula oris muscle - - Partial unilateral facial paresis - orcid.org/0000-0001-5889-4463 - - - - - Hypoplasia of depressor angula oris muscle - orcid.org/0000-0001-5889-4463 - - - Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. HPO:cwright + + ORCID:0000-0001-5889-4463 + Partial unilateral facial paresis + + + Asymmetric crying face + + ORCID:0000-0001-5889-4463 + Hypoplasia of depressor angula oris muscle + + + @@ -319577,17 +320938,17 @@ has elapsed. Distortion of facial shape - Facial shape deformation + Distortion of facial shape + ORCID:0000-0001-5889-4463 - + - Distortion of facial shape - orcid.org/0000-0001-5889-4463 + Facial shape deformation - + @@ -319679,14 +321040,14 @@ has elapsed. Anomaly of mouth size - Anomaly of mouth size - orcid.org/0000-0001-5889-4463 + Abnormality of mouth size - Abnormality of mouth size + Anomaly of mouth size + ORCID:0000-0001-5889-4463 @@ -319726,16 +321087,24 @@ has elapsed. UMLS:C4023407 human_phenotype peter + Fyler:4874 Abnormal mouth morphology Unusual mouth shape Anomaly of mouth shape - Abnormality of mouth shape + ORCID:0000-0001-5208-3432 + Abnormal mouth morphology - + + ORCID:0000-0001-5889-4463 + Unusual mouth shape + + + + An abnormality of the outline, configuration, or contour of the mouth. DDD:jhurst @@ -319743,20 +321112,13 @@ has elapsed. - Unusual mouth shape - orcid.org/0000-0001-5889-4463 + Abnormality of mouth shape - - - - Abnormal mouth morphology - orcid.org/0000-0001-5208-3432 - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Anomaly of mouth shape @@ -319782,13 +321144,13 @@ has elapsed. Malformation of the upper lip vermillion - Malformation of the upper lip vermillion - orcid.org/0000-0001-5889-4463 + Anomaly of the upper lip vermillion + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of the red part of the upper lip @@ -319801,14 +321163,14 @@ has elapsed. - orcid.org/0000-0001-5889-4463 - Anomaly of the upper lip vermillion + Deformity of the upper lip vermillion + ORCID:0000-0001-5889-4463 - Deformity of the upper lip vermillion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of the upper lip vermillion @@ -319833,36 +321195,36 @@ has elapsed. Partial cleft of the upper lip - Incomplete cleft of the upper lip + ORCID:0000-0001-5889-4463 + Notched cleft of the upper lip - Notched cleft of the upper lip - orcid.org/0000-0001-5889-4463 + Incomplete cheiloschisis + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Incomplete cheiloschisis + A subtle unilateral cleft of the upper lip, which may appear as a small indentation. + DDD:jclayton-smith - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Partial cleft of the upper lip - A subtle unilateral cleft of the upper lip, which may appear as a small indentation. - DDD:jclayton-smith + Incomplete cleft of the upper lip - + + @@ -319903,12 +321265,6 @@ has elapsed. Increased height of upper lip Increased vertical length of upper lip - - Long upper lip - - - - DDD:jhurst Increased width of the upper lip. @@ -319916,22 +321272,28 @@ has elapsed. - orcid.org/0000-0001-5889-4463 - Increased vertical length of upper lip + ORCID:0000-0001-5889-4463 + Increased height of upper lip + + + + + + Long upper lip - orcid.org/0000-0001-5889-4463 Elongation of upper lip + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased height of upper lip + ORCID:0000-0001-5889-4463 + Increased vertical length of upper lip @@ -319953,18 +321315,18 @@ has elapsed. peter Psychomotor retardation, mild - - Psychomotor retardation, mild - orcid.org/0000-0001-5208-3432 - - - A mild delay in the achievement of motor or mental milestones in the domains of development of a child. DDD:hvfirth + + Psychomotor retardation, mild + ORCID:0000-0001-5208-3432 + + + @@ -320010,18 +321372,18 @@ has elapsed. human_phenotype peter - - HPO:skoehler - Severe psychomotor retardation - - - A severe delay in the achievement of motor or mental milestones in the domains of development of a child. DDD:hvfirth + + HPO:skoehler + Severe psychomotor retardation + + + @@ -320152,16 +321514,16 @@ has elapsed. Sixth nerve palsy - HPO:probinson - Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. + ORCID:0000-0001-5208-3432 + Sixth nerve palsy - + - Sixth nerve palsy - orcid.org/0000-0001-5208-3432 + HPO:probinson + Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. - + @@ -320270,10 +321632,10 @@ has elapsed. peter - Generalized abnormality of skin + An abnormality of the skin that is not localized to any one particular region. + DDD:cmoss - - + Generalised abnormality of skin @@ -320282,10 +321644,10 @@ has elapsed. - An abnormality of the skin that is not localized to any one particular region. - DDD:cmoss + Generalized abnormality of skin - + + @@ -320473,18 +321835,18 @@ has elapsed. human_phenotype peter - - An abnormality of the distribution of hair growth that is acquired during the course of life. - DDD:cmoss - - - Acquired abnormal hair pattern + + An abnormality of the distribution of hair growth that is acquired during the course of life. + DDD:cmoss + + + @@ -320502,8 +321864,8 @@ has elapsed. Abnormal hair pattern since birth + ORCID:0000-0001-5889-4463 Abnormal hair pattern since birth - orcid.org/0000-0001-5889-4463 @@ -320551,18 +321913,18 @@ has elapsed. human_phenotype peter - - Abnormal hair quantity - - - - An abnormal amount of hair. DDD:cmoss + + Abnormal hair quantity + + + + @@ -320583,10 +321945,11 @@ has elapsed. Abnormality of pace of hair growth - DDD:cmoss - Hair whose growth rate deviates from the norm. + ORCID:0000-0001-5889-4463 + Abnormality of speed of hair growth - + + Abnormality of hair growth rate @@ -320595,15 +321958,14 @@ has elapsed. - orcid.org/0000-0001-5889-4463 - Abnormality of pace of hair growth + DDD:cmoss + Hair whose growth rate deviates from the norm. - - + - Abnormality of speed of hair growth - orcid.org/0000-0001-5889-4463 + Abnormality of pace of hair growth + ORCID:0000-0001-5889-4463 @@ -320625,18 +321987,18 @@ has elapsed. human_phenotype peter - - White hair - - - - DDD:cmoss Hypopigmented hair that appears white. + + White hair + + + + @@ -320833,19 +322195,19 @@ has elapsed. peter Absent inner ear - - orcid.org/0000-0001-5208-3432 - Absent inner ear - - - - Absence of the inner ear due to a developmental defect. DDD:dfitzpatrick + + Absent inner ear + ORCID:0000-0001-5208-3432 + + + + @@ -320951,7 +322313,7 @@ has elapsed. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent cochlea @@ -321036,18 +322398,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Absent vestibule - - orcid.org/0000-0001-5208-3432 - Absent vestibule - - - Complete absence of the vestibule of the inner ear. DDD:dfitzpatrick + + ORCID:0000-0001-5208-3432 + Absent vestibule + + + @@ -321207,18 +322569,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Absent semicircular canal - - Absent semicircular canal - orcid.org/0000-0001-5208-3432 - - - Absence of the semicircular canal. DDD:dfitzpatrick + + Absent semicircular canal + ORCID:0000-0001-5208-3432 + + + @@ -321256,12 +322618,6 @@ and two otolith organs that are sensitive to linear acceleration. peter Small semicircular canal - - Small semicircular canal - orcid.org/0000-0001-5208-3432 - - - HPO:skoehler Hypoplasia of the semicircular canals @@ -321274,6 +322630,12 @@ and two otolith organs that are sensitive to linear acceleration. + + Small semicircular canal + ORCID:0000-0001-5208-3432 + + + @@ -321614,8 +322976,8 @@ and two otolith organs that are sensitive to linear acceleration. A structural anomaly of the internal part of the ear. - HPO:probinson A structural anomaly of the internal part of the ear. + HPO:probinson @@ -321740,14 +323102,14 @@ and two otolith organs that are sensitive to linear acceleration. Absent the eighth cranial nerve - orcid.org/0000-0001-5208-3432 Absent cranial nerve viii + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent the eighth cranial nerve + ORCID:0000-0001-5208-3432 + Absent vestribular nerve @@ -321758,8 +323120,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 - Absent vestribular nerve + Absent the eighth cranial nerve + ORCID:0000-0001-5208-3432 @@ -321845,16 +323207,9 @@ and two otolith organs that are sensitive to linear acceleration. Absent/small cochlea Absent/underdeveloped cochlea - - Absent/small cochlea - orcid.org/0000-0001-5208-3432 - - - - Absent/underdeveloped cochlea - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -321865,6 +323220,13 @@ and two otolith organs that are sensitive to linear acceleration. + + ORCID:0000-0001-5208-3432 + Absent/small cochlea + + + + @@ -321979,18 +323341,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Tibialis muscle degeneration - - Tibialis muscle degeneration - orcid.org/0000-0001-5208-3432 - - - Atrophy of the tibialis muscle. HPO:probinson + + ORCID:0000-0001-5208-3432 + Tibialis muscle degeneration + + + @@ -322330,13 +323692,6 @@ and two otolith organs that are sensitive to linear acceleration. Vacuum-assisted vaginal delivery Vacuum extraction - - http://orcid.org/0000-0001-5208-3432 - Vacuum-assisted vaginal delivery - - - - DDD:hfirth Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. @@ -322344,12 +323699,19 @@ and two otolith organs that are sensitive to linear acceleration. - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Vacuum extraction + + ORCID:0000-0001-5208-3432 + Vacuum-assisted vaginal delivery + + + + @@ -322573,18 +323935,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). - HPO:probinson - - - Death in adolescence + + Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). + HPO:probinson + + + @@ -322814,6 +324176,13 @@ and two otolith organs that are sensitive to linear acceleration. peter Short fetal thigh bone length + + ORCID:0000-0001-5208-3432 + Short fetal thigh bone length + + + + A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637). HPO:probinson @@ -322821,13 +324190,6 @@ and two otolith organs that are sensitive to linear acceleration. - - http://orcid.org/0000-0001-5208-3432 - Short fetal thigh bone length - - - - @@ -322845,8 +324207,8 @@ and two otolith organs that are sensitive to linear acceleration. Short fetal long bone in upper arm length - orcid.org/0000-0001-5208-3432 Short fetal long bone in upper arm length + ORCID:0000-0001-5208-3432 @@ -322874,6 +324236,13 @@ and two otolith organs that are sensitive to linear acceleration. peter Underdeveloped fetal nose bone + + Underdeveloped fetal nose bone + ORCID:0000-0001-5208-3432 + + + + HPO:probinson On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (pmid:16100637). @@ -322881,13 +324250,6 @@ and two otolith organs that are sensitive to linear acceleration. - - orcid.org/0000-0001-5208-3432 - Underdeveloped fetal nose bone - - - - @@ -322908,22 +324270,15 @@ and two otolith organs that are sensitive to linear acceleration. Fetal pinkie finger curvature - Fetal pinky finger curvature - orcid.org/0000-0001-5208-3432 - - - - - - Fetal pinkie finger curvature - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Fetal little finger curvature - orcid.org/0000-0001-5208-3432 - Fetal little finger curvature + ORCID:0000-0001-5208-3432 + Fetal pinky finger curvature @@ -322935,6 +324290,13 @@ and two otolith organs that are sensitive to linear acceleration. + + Fetal pinkie finger curvature + ORCID:0000-0001-5208-3432 + + + + @@ -323455,8 +324817,8 @@ and two otolith organs that are sensitive to linear acceleration. Central nervous system infection - orcid.org/0000-0001-5208-3432 Central nervous system infection + ORCID:0000-0001-5208-3432 @@ -323478,8 +324840,8 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Small cranium present at birth - Small head present at birth Decreased head circumference present at birth + Small head present at birth Microcephaly present at birth Small head circumference present at birth Congenital small head @@ -323489,75 +324851,75 @@ and two otolith organs that are sensitive to linear acceleration. Congenital decreased head circumference - orcid.org/0000-0001-5889-4463 - Congenital small head circumference + ORCID:0000-0001-5889-4463 + Small cranium present at birth - + Congenital small skull - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Head circumference small for gestational age - HPO:orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Congenital decreased head circumference - + - Congenital decreased head circumference - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small head circumference present at birth - + - HPO:probinson - Microcephaly (HP:0000252) that is present already at the time of birth. + Head circumference small for gestational age + ORCID:0000-0001-5889-4463 - + - HPO:orcid.org/0000-0001-5889-4463 - Small cranium present at birth + ORCID:0000-0001-5889-4463 + Decreased head circumference present at birth - HPO:orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Small head present at birth - HPO:orcid.org/0000-0001-5889-4463 - Small skull present at birth + Congenital small head circumference + ORCID:0000-0001-5889-4463 - Small head circumference present at birth - HPO:orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Microcephaly present at birth - + - Decreased head circumference present at birth - HPO:orcid.org/0000-0001-5889-4463 + Congenital small head + ORCID:0000-0001-5889-4463 - + - HPO:orcid.org/0000-0001-5889-4463 - Microcephaly present at birth + HPO:probinson + Microcephaly (HP:0000252) that is present already at the time of birth. - + - Congenital small head - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Small skull present at birth @@ -323598,18 +324960,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - An abnormality of the function of the middle ear. - HPO:probinson - - - Functional abnormality of the middle ear + + An abnormality of the function of the middle ear. + HPO:probinson + + + @@ -323799,31 +325161,31 @@ and two otolith organs that are sensitive to linear acceleration. Eyelashes fell out - Loss of eyelashes + ORCID:0000-0001-5889-4463 + Missing eyelashes - HPO:probinson - This term refers to the loss of eyelashes that were previously present. - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Eyelashes fell out - orcid.org/0000-0001-5889-4463 - Missing eyelashes + Loss of eyelashes + + HPO:probinson + This term refers to the loss of eyelashes that were previously present. + + + @@ -324100,13 +325462,6 @@ and two otolith organs that are sensitive to linear acceleration. Absent/small gallbladder Absent/underdeveloped gallbladder - - Absent/underdeveloped gallbladder - orcid.org/0000-0001-5208-3432 - - - - Absence or underdevelopment of the gallbladder. HPO:probinson @@ -324114,8 +325469,15 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-5208-3432 Absent/small gallbladder - orcid.org/0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Absent/underdeveloped gallbladder @@ -324160,18 +325522,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Absent gallbladder - - - - A developmental defect in which the gallbladder fails to form. DDD:hfirth + + Absent gallbladder + + + + @@ -324204,75 +325566,75 @@ and two otolith organs that are sensitive to linear acceleration. Spasms of facial muscles - Cramping of facial muscles - orcid.org/0000-0001-5889-4463 + Facial tics - orcid.org/0000-0001-5889-4463 - Twitching of facial muscles + ORCID:0000-0001-5889-4463 + Involuntary facial muscle spasms - + - Involuntary facial muscle spasms - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Spasms of facial muscles - + - orcid.org/0000-0001-5889-4463 - Mimic spasms + Muscle spasm of face + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 Jerking of facial muscles - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Facial spasms - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Muscle spasm of face + DDD:cwright + Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Myoclonus of facial muscles - orcid.org/0000-0001-5889-4463 - Spasms of facial muscles + Mimic spasms + ORCID:0000-0001-5889-4463 - DDD:cwright - Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. + Cramping of facial muscles + ORCID:0000-0001-5889-4463 - + + - Facial tics + ORCID:0000-0001-5889-4463 + Twitching of facial muscles @@ -324382,7 +325744,7 @@ and two otolith organs that are sensitive to linear acceleration. Abnormal shape of small intestinal villus - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -324436,16 +325798,16 @@ and two otolith organs that are sensitive to linear acceleration. - HPO:probinson - The enteric villi are atrophic or absent. + Duodenal villous atrophy + HPO:skoehler - + - HPO:skoehler - Small intestine biopsy shows villous atrophy + HPO:probinson + The enteric villi are atrophic or absent. - + Biopsy shows villous atrophy @@ -324454,20 +325816,20 @@ and two otolith organs that are sensitive to linear acceleration. - Duodenal villous atrophy HPO:skoehler + Variable degree of villous atrophy HPO:skoehler - Variable degree of villous atrophy + Small intestine biopsy shows villous atrophy + ORCID:0000-0001-5208-3432 Villous degeneration - orcid.org/0000-0001-5208-3432 @@ -324579,30 +325941,30 @@ and two otolith organs that are sensitive to linear acceleration. Completely missing eyeball + Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. + DDD:ncarter + + + + + ORCID:0000-0001-5889-4463 Completely missing eyeball - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Total anophthalmia - orcid.org/0000-0001-5889-4463 Complete anophthalmia + ORCID:0000-0001-5889-4463 - - Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. - DDD:ncarter - - - @@ -324664,24 +326026,24 @@ and two otolith organs that are sensitive to linear acceleration. Abnormally small eyeball on one side - A developmental anomaly characterized by abnormal smallness of one eye. - DDD:ncarter - - - - - orcid.org/0000-0001-5889-4463 Unilateral nanophthalmos + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Abnormally small eyeball on one side + ORCID:0000-0001-5889-4463 + + A developmental anomaly characterized by abnormal smallness of one eye. + DDD:ncarter + + + @@ -325153,18 +326515,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - DDD:gblack - Generalized reduced transparency of the stroma of the cornea. - - - Generalised opacification of the cornea + + DDD:gblack + Generalized reduced transparency of the stroma of the cornea. + + + @@ -325229,16 +326591,16 @@ and two otolith organs that are sensitive to linear acceleration. Limbal neovascularization - Corneal neovascularisation + ORCID:0000-0001-5208-3432 + New blood vessel formation in cornea - + - orcid.org/0000-0001-5208-3432 - New blood vessel formation in cornea + Corneal neovascularisation - + @@ -325265,19 +326627,19 @@ and two otolith organs that are sensitive to linear acceleration. peter New blood vessel formation in iris - - orcid.org/0000-0001-5208-3432 - New blood vessel formation in iris - - - - DDD:ncarter New growth of vessels on the surface of the iris. + + New blood vessel formation in iris + ORCID:0000-0001-5208-3432 + + + + @@ -325318,19 +326680,19 @@ and two otolith organs that are sensitive to linear acceleration. Dilated pupil - - orcid.org/0000-0001-5208-3432 - Dilated pupil - - - - Abnormal dilatation of the iris. DDD:ncarter + + Dilated pupil + ORCID:0000-0001-5208-3432 + + + + @@ -325355,8 +326717,8 @@ and two otolith organs that are sensitive to linear acceleration. - http://orcid.org/0000-0001-5208-3432 Multiple pupils + ORCID:0000-0001-5208-3432 @@ -325449,8 +326811,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 Absent fovea + ORCID:0000-0001-5208-3432 @@ -325481,8 +326843,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 Chloroquine retinopathy + ORCID:0000-0001-5208-3432 @@ -325744,7 +327106,7 @@ and two otolith organs that are sensitive to linear acceleration. DDD:ncarter Increased pigmentation of the fundus - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -325930,18 +327292,18 @@ and two otolith organs that are sensitive to linear acceleration. Deuteranomoly - A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. - HPO:probinson - - - - - orcid.org/0000-0001-6908-9849 Green-weak + ORCID:0000-0001-6908-9849 + + A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. + HPO:probinson + + + @@ -325963,19 +327325,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Green-blind - - orcid.org/0000-0001-6908-9849 - Green-blind - - - - Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. DDD:gblack + + ORCID:0000-0001-6908-9849 + Green-blind + + + + @@ -325996,18 +327358,18 @@ and two otolith organs that are sensitive to linear acceleration. Red-blind - Blue and green cones only; no functional red cones. - DDD:gblack - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Red-blind + + Blue and green cones only; no functional red cones. + DDD:gblack + + + @@ -326101,18 +327463,18 @@ and two otolith organs that are sensitive to linear acceleration. Eye freckle - A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. - DDD:ncarter - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Eye freckle + + A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. + DDD:ncarter + + + @@ -326181,18 +327543,18 @@ and two otolith organs that are sensitive to linear acceleration. - DDD:gblack - Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. - - - - - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Bulging of eye lens + + DDD:gblack + Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. + + + @@ -326262,18 +327624,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Retinal holes - - Retinal holes - HPO:skoehler - - - A small break in the retina. HPO:probinson + + HPO:skoehler + Retinal holes + + + @@ -326379,19 +327741,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Abnormal location of heart atrium - - Abnormal location of heart atrium - orcid.org/0000-0001-6908-9849 - - - - Abnormality of the spatial relationship of the atria to other components of the heart. DDD:dbrown + + ORCID:0000-0001-6908-9849 + Abnormal location of heart atrium + + + + @@ -326457,6 +327819,8 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4023312 human_phenotype peter + Fyler:150 + Fyler:0150 DDD:dbrown @@ -326484,7 +327848,7 @@ and two otolith organs that are sensitive to linear acceleration. Atrial heterotaxy - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -326495,8 +327859,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-6908-9849 Atrial situs ambiguus + ORCID:0000-0001-6908-9849 @@ -326587,6 +327951,8 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4023308 human_phenotype peter + Fyler:0184 + Fyler:184 @@ -326685,8 +328051,8 @@ and two otolith organs that are sensitive to linear acceleration. A defect where there is no connection between the right atrium and right ventricle. - A defect where there is no connection between the right atrium and right ventricle. PMID:7104116 + A defect where there is no connection between the right atrium and right ventricle. @@ -326944,6 +328310,8 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0344760 human_phenotype peter + Fyler:310 + Fyler:0310 A congenital defect with failure to open of the mitral valve orifice. @@ -327053,6 +328421,7 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Single atrium + Fyler:1140 Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. @@ -327062,8 +328431,8 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-6908-9849 Single atrium - orcid.org/0000-0001-6908-9849 @@ -327084,6 +328453,7 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Cor triatriatum dextrum + Fyler:2854 A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. @@ -327094,8 +328464,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 Cor triatriatum dextrum + ORCID:0000-0001-5208-3432 @@ -327116,6 +328486,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0344730 human_phenotype peter + Fyler:2010 An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. @@ -327273,21 +328644,22 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4023294 human_phenotype peter - Underdeveloped tricuspid valve Tricuspid valve hypoplasia + Underdeveloped tricuspid valve + Fyler:1720 - - Underdeveloped tricuspid valve - orcid.org/0000-0001-6908-9849 - - - Congenital defect characterized by underdevelopment of the tricuspid valve. DDD:dbrown + + Underdeveloped tricuspid valve + ORCID:0000-0001-6908-9849 + + + @@ -327325,16 +328697,16 @@ and two otolith organs that are sensitive to linear acceleration. Unopened atrioventricular valve - An atrioventricular valve that has failed to open (atretic). - DDD:dbrown + Unopened atrioventricular valve + ORCID:0000-0001-6908-9849 - + - orcid.org/0000-0001-6908-9849 - Unopened atrioventricular valve + An atrioventricular valve that has failed to open (atretic). + DDD:dbrown - + @@ -327374,6 +328746,12 @@ and two otolith organs that are sensitive to linear acceleration. Unopened tricuspid valve Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography. + + ORCID:0000-0001-6908-9849 + Unopened tricuspid valve + + + An tricuspid valve that has failed to open. DDD:dbrown @@ -327381,12 +328759,6 @@ and two otolith organs that are sensitive to linear acceleration. - - Unopened tricuspid valve - orcid.org/0000-0001-6908-9849 - - - @@ -327401,6 +328773,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4023291 human_phenotype peter + Fyler:1121 Intermediate atrioventricular septal defect @@ -327533,6 +328906,8 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0265809 human_phenotype peter + Fyler:0650 + Fyler:650 A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. @@ -327741,6 +329116,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0265883 human_phenotype peter + Fyler:2761 A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). @@ -327918,6 +329294,8 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0265865 human_phenotype peter + Fyler:0140 + Fyler:140 DDD:dbrown @@ -328020,6 +329398,8 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0003516 human_phenotype peter + Fyler:560 + Fyler:0560 A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. @@ -328087,6 +329467,8 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4021137 human_phenotype peter + Fyler:0520 + Fyler:520 Persistent truncus arteriosus type II @@ -328112,7 +329494,9 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4021136 human_phenotype peter + Fyler:530 Persistent truncus arteriosus type III + Fyler:0530 DDD:dbrown @@ -328138,6 +329522,8 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Persistent truncus arteriosus type IV + Fyler:540 + Fyler:0540 DDD:dbrown @@ -328164,6 +329550,8 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Aortic arch obstruction + Fyler:1241 + Fyler:1250 DDD:dbrown @@ -328208,6 +329596,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0345093 human_phenotype peter + Fyler:1252 Interrupted aortic arch, type b @@ -328432,6 +329821,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0221215 human_phenotype peter + Fyler:1340 A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. @@ -328457,6 +329847,7 @@ and two otolith organs that are sensitive to linear acceleration. Ventricular septal defect, muscular human_phenotype peter + Fyler:1320 HPO:skoehler @@ -328535,6 +329926,12 @@ and two otolith organs that are sensitive to linear acceleration. peter Pulmonary venolobar syndrome + + Pulmonary venolobar syndrome + ORCID:0000-0001-6908-9849 + + + DDD:dbrown Right pulmonary venous return to the inferior vena cava. @@ -328542,12 +329939,6 @@ and two otolith organs that are sensitive to linear acceleration. - - Pulmonary venolobar syndrome - orcid.org/0000-0001-6908-9849 - - - @@ -328627,9 +330018,16 @@ and two otolith organs that are sensitive to linear acceleration. peter Congenital absence of the pericardium Absent pericardium + Fyler:1910 - orcid.org/0000-0001-6908-9849 + Absent pericardium + ORCID:0000-0001-5208-3432 + + + + + ORCID:0000-0001-6908-9849 Congenital absence of the pericardium @@ -328640,12 +330038,6 @@ and two otolith organs that are sensitive to linear acceleration. - - Absent pericardium - orcid.org/0000-0001-5208-3432 - - - @@ -328728,7 +330120,7 @@ and two otolith organs that are sensitive to linear acceleration. Absent lining around of left side of heart - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent lining around of left side of heart @@ -328844,6 +330236,7 @@ and two otolith organs that are sensitive to linear acceleration. Bland-Garland-White syndrome ALCAPA Anomalous left coronary artery from the pulmonary artery + Fyler:3101 In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins. @@ -328923,10 +330316,11 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Coronary fistula + Fyler:2230 - orcid.org/0000-0001-5208-3432 Coronary fistula + ORCID:0000-0001-5208-3432 @@ -328973,6 +330367,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0344680 human_phenotype peter + Fyler:2840 Abnormality of the coronary sinus @@ -329067,6 +330462,7 @@ and two otolith organs that are sensitive to linear acceleration. Aneurysm is considered a severe form of dilatation. Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. Sinus of Valsalva aneurysm + Fyler:2316 Aneurysm of the aortic sinus Aortic sinus aneurysm @@ -329077,8 +330473,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-6908-9849 Aneurysm of the aortic sinus + ORCID:0000-0001-6908-9849 @@ -329195,8 +330591,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-6908-9849 Bilateral ductus botalli + ORCID:0000-0001-6908-9849 @@ -329218,16 +330614,16 @@ and two otolith organs that are sensitive to linear acceleration. A double outlet right ventricle with a subaortic ventritricular septal defect (a hotel between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. + A double outlet right ventricle with a subaortic ventritricular septal defect (a hotel between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:6193702 - DORV with doubly committed VSD and pulmonary stenosis - + - A double outlet right ventricle with a subaortic ventritricular septal defect (a hotel between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:6193702 + DORV with doubly committed VSD and pulmonary stenosis - + @@ -329243,18 +330639,20 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Double outlet right ventricle, doubly committed ventricular septal defect + Fyler:0604 A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. DORV with doubly committed VSD + Fyler:604 - PMID:10798433 DORV with doubly committed VSD + PMID:10798433 - PMID:6193702 A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. + PMID:6193702 @@ -329293,8 +330691,10 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4023245 human_phenotype peter - Double outlet right ventricle, noncommitted ventricular septal defect A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. + Fyler:0603 + Fyler:603 + Double outlet right ventricle, noncommitted ventricular septal defect DORV with non-committed VSD without pulmonary stenosis @@ -329320,8 +330720,8 @@ and two otolith organs that are sensitive to linear acceleration. A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. - PMID:6193702 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. + PMID:6193702 @@ -329364,8 +330764,8 @@ and two otolith organs that are sensitive to linear acceleration. DORV with subpulmonary VSD and pulmonary stenosis - PMID:6193702 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. + PMID:6193702 @@ -329386,8 +330786,8 @@ and two otolith organs that are sensitive to linear acceleration. A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. - A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:6193702 + A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. @@ -329431,6 +330831,8 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4021134 human_phenotype peter + Fyler:0550 + Fyler:550 Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. @@ -329500,7 +330902,9 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0243002 human_phenotype peter + Fyler:0400 Tricuspid valve atresia + Fyler:400 DDD:dbrown @@ -329510,8 +330914,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 Tricuspid valve atresia + ORCID:0000-0001-5208-3432 @@ -329534,16 +330938,16 @@ and two otolith organs that are sensitive to linear acceleration. peter - Cardiomyopathy, right ventricular + Cardiomyopathy, esp. right ventricular HPO:skoehler - + - Cardiomyopathy, esp. right ventricular + Cardiomyopathy, right ventricular HPO:skoehler - + HPO:probinson @@ -329594,8 +330998,8 @@ and two otolith organs that are sensitive to linear acceleration. Broken-heart syndrome - orcid.org/0000-0001-6908-9849 Broken-heart syndrome + ORCID:0000-0001-6908-9849 @@ -329949,14 +331353,7 @@ and two otolith organs that are sensitive to linear acceleration. Abnormal heart rate - Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. - DDD:dbrown - pmid:19063792 - - - - - Heart rhythm disorders + Irregular heart beat @@ -329968,13 +331365,20 @@ and two otolith organs that are sensitive to linear acceleration. - Irregular heart beat + Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. + DDD:dbrown + pmid:19063792 + + + + + Abnormal heart rate - Abnormal heart rate + Heart rhythm disorders @@ -330086,6 +331490,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C3165130 human_phenotype peter + Fyler:1330 A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. @@ -330115,6 +331520,7 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Perimembraneous ventricular septal defect + Fyler:1310 HPO:skoehler @@ -330123,7 +331529,7 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Perimembraneous ventricular septal defect @@ -330254,7 +331660,7 @@ and two otolith organs that are sensitive to linear acceleration. AV nodal tachycardia - + @@ -330271,7 +331677,14 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4021132 human_phenotype peter + Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. + + Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. + PMID:22459483 + + + @@ -330285,7 +331698,14 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4023231 human_phenotype peter + Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm. + + PMID:22459483 + Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm. + + + @@ -330460,8 +331880,8 @@ and two otolith organs that are sensitive to linear acceleration. Chronic supraventracle tachycardia predominantly seen in childhood. - PMID:4019927 Chronic supraventracle tachycardia predominantly seen in childhood. + PMID:4019927 @@ -330491,8 +331911,8 @@ and two otolith organs that are sensitive to linear acceleration. Chaotic atrial tachycardia - ORPHA:3282 PMID:5451226 + ORPHA:3282 @@ -330510,6 +331930,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4023222 human_phenotype peter + Fyler:7010 An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. @@ -330537,14 +331958,14 @@ and two otolith organs that are sensitive to linear acceleration. Heart rate of greater than 100 beats per minute. - Sinus tach - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Sinus tachy - orcid.org/0000-0001-6908-9849 - Sinus tachy + ORCID:0000-0001-6908-9849 + Sinus tach @@ -330568,8 +331989,8 @@ and two otolith organs that are sensitive to linear acceleration. Sinoatrial node disease - An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. PMID:17420362 + An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. @@ -330856,8 +332277,8 @@ and two otolith organs that are sensitive to linear acceleration. Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. - Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. PMID:22826742 + Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. @@ -330917,18 +332338,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Abnormality of lung veins - - Abnormality of lung veins - - - - An abnormality of the pulmonary veins. HPO:probinson + + Abnormality of lung veins + + + + @@ -330944,7 +332365,9 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4021131 human_phenotype peter + Fyler:910 Total anomalous pulmonary venous connection, supracardiac + Fyler:0910 DDD:dbrown @@ -330968,6 +332391,10 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter Total anomalous pulmonary venous connection, intracardiac + Fyler:0930 + Fyler:0920 + Fyler:920 + Fyler:930 DDD:dbrown @@ -331012,20 +332439,22 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C4021128 human_phenotype peter + Fyler:0950 Total anomalous pulmonary venous connection, mixed + Fyler:950 - - Type 4 total anomalous pulmonary venous connection - orcid.org/0000-0001-5208-3432 - - - DDD:dbrown Type 4 total anomalous pulmonary venous connection. + + Type 4 total anomalous pulmonary venous connection + ORCID:0000-0001-5208-3432 + + + @@ -331059,9 +332488,9 @@ and two otolith organs that are sensitive to linear acceleration. Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. - Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. PMID:16322929 PMID:10859296 + Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. @@ -331128,7 +332557,7 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Fibularis muscle weakness @@ -331595,19 +333024,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Abnormal adrenal gland position - - Abnormal adrenal gland position - orcid.org/0000-0001-5208-3432 - - - - Abnormal anatomical location of the adrenal gland. DDD:spark + + ORCID:0000-0001-5208-3432 + Abnormal adrenal gland position + + + + @@ -331861,14 +333290,14 @@ and two otolith organs that are sensitive to linear acceleration. Neoplasm of the adenohypophysis - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Neoplasm of the adenohypophysis + ORCID:0000-0001-6908-9849 Neoplasm of the pars anterior - http://orcid.org/0000-0001-6908-9849 @@ -331914,12 +333343,6 @@ and two otolith organs that are sensitive to linear acceleration. peter Abnormality of the neurohypophysis - - Abnormality of the neurohypophysis - http://orcid.org/0000-0001-6908-9849 - - - An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. DDD:spark @@ -331927,6 +333350,12 @@ and two otolith organs that are sensitive to linear acceleration. + + ORCID:0000-0001-6908-9849 + Abnormality of the neurohypophysis + + + @@ -331975,7 +333404,7 @@ and two otolith organs that are sensitive to linear acceleration. Neoplasm of the neurohypophysis - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -332023,8 +333452,8 @@ and two otolith organs that are sensitive to linear acceleration. Neurohypophysis dysplasia + ORCID:0000-0001-6908-9849 Neurohypophysis dysplasia - http://orcid.org/0000-0001-6908-9849 @@ -332052,12 +333481,6 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Pituicytoma - ICD-O:9432/1 - - - A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern. DDD:spark @@ -332066,6 +333489,12 @@ and two otolith organs that are sensitive to linear acceleration. + + Pituicytoma + ICD-O:9432/1 + + + @@ -332112,7 +333541,7 @@ and two otolith organs that are sensitive to linear acceleration. - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Ectopic neurohypophysis @@ -332153,18 +333582,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Neurohypophysis agenesis - - http://orcid.org/0000-0001-6908-9849 - Neurohypophysis agenesis - - - Absence of the neurohypophysis owing to a developmental defect. DDD:spark + + ORCID:0000-0001-6908-9849 + Neurohypophysis agenesis + + + @@ -332202,16 +333631,16 @@ and two otolith organs that are sensitive to linear acceleration. Neurohypophysis hypoplasia - DDD:spark - Underdevelopment of the neurohypophysis. + Neurohypophysis hypoplasia + ORCID:0000-0001-6908-9849 - + - http://orcid.org/0000-0001-6908-9849 - Neurohypophysis hypoplasia + DDD:spark + Underdevelopment of the neurohypophysis. - + @@ -332403,9 +333832,7 @@ and two otolith organs that are sensitive to linear acceleration. obsolete Ectopic anterior pituitary - 2012-04-22T04:03:37Z HP:0011765 - peter true HP:0012731 @@ -332488,13 +333915,6 @@ and two otolith organs that are sensitive to linear acceleration. Parathyroid dysfunction Parathyroid issue - - A functional abnormality of the parathyroid gland. - DDD:spark - HPO:probinson - - - Parathyroid issue @@ -332507,6 +333927,13 @@ and two otolith organs that are sensitive to linear acceleration. + + A functional abnormality of the parathyroid gland. + DDD:spark + HPO:probinson + + + @@ -332677,8 +334104,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 Abnormal shape of thyroid gland + ORCID:0000-0001-5208-3432 @@ -332987,18 +334414,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Increased serum fT3 - - Increased serum fT3 - - - - An elevated concentration of 3,3',5-triiodo-L-thyronine in the blood. HPO:probinson + + Increased serum fT3 + + + + @@ -333239,22 +334666,22 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5889-4463 Anomaly of facial soft tissue + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Malformation of facial soft tissue + ORCID:0000-0001-5889-4463 + Deformity of facial soft tissue - orcid.org/0000-0001-5889-4463 - Deformity of facial soft tissue + ORCID:0000-0001-5889-4463 + Malformation of facial soft tissue @@ -333319,65 +334746,65 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Retrusive midface + Midface retrusion + - orcid.org/0000-0001-5889-4463 - Midface deficiency + Small midface + ORCID:0000-0001-5889-4463 - + - Midface retrusion + Midface deficiency + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Decreased projection of midface + ORCID:0000-0001-5889-4463 - Small midface - orcid.org/0000-0001-5889-4463 - - - - - - orcid.org/0000-0001-5889-4463 - Decreased size of midface + HPO:skoehler + Midface hypoplasia - - Hypotrophic midface - orcid.org/0000-0001-5889-4463 + Retrusive midface + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - + - Midface hypoplasia - HPO:skoehler + ORCID:0000-0001-5889-4463 + Decreased size of midface + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Underdevelopment of midface + + Hypotrophic midface + ORCID:0000-0001-5889-4463 + + + @@ -333398,19 +334825,19 @@ and two otolith organs that are sensitive to linear acceleration. Increased size of parotid gland - DDD:jclayton-smith - Increased size of the parotid gland. + ORCID:0000-0001-5889-4463 + Hypertrophy of parotid gland - + - orcid.org/0000-0001-5889-4463 - Hypertrophy of parotid gland + DDD:jclayton-smith + Increased size of the parotid gland. - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased size of parotid gland @@ -333463,15 +334890,15 @@ and two otolith organs that are sensitive to linear acceleration. Lingual hamartoma - A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. HPO:probinson pmid:17667541 + A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. Lingual hamartoma - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -333521,18 +334948,17 @@ and two otolith organs that are sensitive to linear acceleration. - Cleft nasal bridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cleft nose - Indented bridge of nose - orcid.org/0000-0001-5889-4463 + Bifid nasal bridge + ORCID:0000-0001-5889-4463 - - + Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. @@ -333541,17 +334967,18 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5889-4463 - Cleft nose + ORCID:0000-0001-5889-4463 + Cleft nasal bridge - Bifid nasal bridge - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Indented bridge of nose - + + @@ -333589,18 +335016,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Issue with muscle function - - Issue with muscle function - - - - A functional abnormality of a skeletal muscle. HPO:probinson + + Issue with muscle function + + + + @@ -333639,19 +335066,19 @@ and two otolith organs that are sensitive to linear acceleration. Issue with muscle structure Abnormally shaped muscle - - orcid.org/0000-0001-5208-3432 - Abnormally shaped muscle - - - - A structural abnormality of a skeletal muscle. HPO:probinson + + Abnormally shaped muscle + ORCID:0000-0001-5208-3432 + + + + Issue with muscle structure @@ -333697,14 +335124,8 @@ and two otolith organs that are sensitive to linear acceleration. Decreased knee jerk reflex - Decreased patellar reflexes - HPO:skoehler - - - - + ORCID:0000-0001-6908-9849 Decreased knee jerk reflex - http://orcid.org/0000-0001-6908-9849 @@ -333715,6 +335136,12 @@ and two otolith organs that are sensitive to linear acceleration. + + Decreased patellar reflexes + HPO:skoehler + + + @@ -333777,21 +335204,21 @@ and two otolith organs that are sensitive to linear acceleration. peter Impaired topognosis - - A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. - HPO:probinson - - - Impaired touch localisation + + A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. + HPO:probinson + + + Impaired topognosis - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -333910,9 +335337,9 @@ and two otolith organs that are sensitive to linear acceleration. A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). - PMID:24931720 A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. HPO:probinson + PMID:24931720 @@ -334018,8 +335445,8 @@ and two otolith organs that are sensitive to linear acceleration. - Submucous cleft velum - orcid.org/0000-0001-5889-4463 + Partial thickness cleft soft palate + ORCID:0000-0001-5889-4463 @@ -334030,8 +335457,8 @@ and two otolith organs that are sensitive to linear acceleration. - Partial thickness cleft soft palate - orcid.org/0000-0001-5889-4463 + Submucous cleft velum + ORCID:0000-0001-5889-4463 @@ -334102,65 +335529,65 @@ and two otolith organs that are sensitive to linear acceleration. Anomaly of facial bones - orcid.org/0000-0001-5889-4463 - Malformation of facial bones + An abnormality of one or more of the set of bones that make up the facial skeleton. + DDD:awilkie - - + - Abnormality of facial bones - orcid.org/0000-0001-5889-4463 + Abnormality of facial skeleton - + - orcid.org/0000-0001-5889-4463 - Deformity of facial skeleton + ORCID:0000-0001-5889-4463 + Malformation of facial bones - Deformity of the facial bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of facial skeleton - Abnormality of facial skeleton + Anomaly of facial bones + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 Malformation of facial skeleton + ORCID:0000-0001-5889-4463 - An abnormality of one or more of the set of bones that make up the facial skeleton. - DDD:awilkie + ORCID:0000-0001-5889-4463 + Abnormality of facial bones - + + - Anomaly of facial skeleton - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the facial bones - + - orcid.org/0000-0001-5889-4463 - Anomaly of facial bones + Anomaly of facial skeleton + ORCID:0000-0001-5889-4463 - + @@ -334203,32 +335630,32 @@ and two otolith organs that are sensitive to linear acceleration. - Broad chin + Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. + pmid:19125436 - - + - orcid.org/0000-0001-5889-4463 - Increased width of menton region + Broad chin + - Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. - pmid:19125436 + ORCID:0000-0001-5889-4463 + Increased width of chin - + + - Wide chin + ORCID:0000-0001-5889-4463 + Increased width of menton region - - Increased width of chin - orcid.org/0000-0001-5889-4463 + Wide chin @@ -334255,16 +335682,22 @@ and two otolith organs that are sensitive to linear acceleration. Horizontal menton crease - Horizontal chin skin cleft - orcid.org/0000-0001-5889-4463 + Horizontal menton crease + ORCID:0000-0001-5889-4463 + + + + + Chin with horizontal crease - Horizontal menton crease - orcid.org/0000-0001-5889-4463 + Horizontal chin skin cleft + ORCID:0000-0001-5889-4463 + @@ -334279,12 +335712,6 @@ and two otolith organs that are sensitive to linear acceleration. - - Chin with horizontal crease - - - - @@ -334306,22 +335733,22 @@ and two otolith organs that are sensitive to linear acceleration. peter - Chin with H-shaped crease + H-shaped crease in the fat pad of the chin. + pmid:19125436 - - + - Chin, H-Shaped Crease + Chin with H-shaped crease - H-shaped crease in the fat pad of the chin. - pmid:19125436 + H-shaped dimple of the chin - + + Chin, H-shaped groove @@ -334330,7 +335757,7 @@ and two otolith organs that are sensitive to linear acceleration. - H-shaped dimple of the chin + Chin, H-Shaped Crease @@ -334379,24 +335806,24 @@ and two otolith organs that are sensitive to linear acceleration. Philtrum with midline ridge - - Narrow ridge in the midline of the philtral groove. - pmid:19152422 - - - Philtrum with central raphe - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Philtrum with midline ridge + ORCID:0000-0001-5889-4463 + + Narrow ridge in the midline of the philtral groove. + pmid:19152422 + + + @@ -334419,8 +335846,8 @@ and two otolith organs that are sensitive to linear acceleration. - Malaligned philtral columns - orcid.org/0000-0001-5889-4463 + Asymmetric philtral ridges + ORCID:0000-0001-5889-4463 @@ -334431,14 +335858,14 @@ and two otolith organs that are sensitive to linear acceleration. - Asymmetric philtral columns - orcid.org/0000-0001-5889-4463 + Malaligned philtral columns + ORCID:0000-0001-5889-4463 - Asymmetric philtral ridges - orcid.org/0000-0001-5889-4463 + Asymmetric philtral columns + ORCID:0000-0001-5889-4463 @@ -334462,7 +335889,7 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Central sinus of philtrum @@ -334497,40 +335924,40 @@ and two otolith organs that are sensitive to linear acceleration. - Decreased width of philtrum - orcid.org/0000-0001-5889-4463 + Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. + pmid:19152422 - + - orcid.org/0000-0001-5889-4463 - Decreased breadth of philtrum + Thin philtrum + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Thin philtrum + ORCID:0000-0001-5889-4463 + Decreased width of philtrum + ORCID:0000-0001-5889-4463 Decreased horizontal dimension of philtrum - orcid.org/0000-0001-5889-4463 - Decreased transverse dimension of philtrum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased breadth of philtrum - Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. - pmid:19152422 + Decreased transverse dimension of philtrum + ORCID:0000-0001-5889-4463 - + @@ -334573,28 +336000,28 @@ and two otolith organs that are sensitive to linear acceleration. Abnormality of lining of mouth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of oral mucous membrane - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Abnormality of the oral mucosa. - HPO:probinson + ORCID:0000-0001-5889-4463 + Abnormality of mucosa of mouth - + - Abnormality of mucosa of mouth - orcid.org/0000-0001-5889-4463 + Abnormality of the oral mucosa. + HPO:probinson - + @@ -334622,55 +336049,55 @@ and two otolith organs that are sensitive to linear acceleration. Crooked tip of nose - Asymmetry of tip of nose - orcid.org/0000-0001-5889-4463 + Deviated tip of nose + ORCID:0000-0001-5889-4463 - Nasal tip positioned to one side of the midline. - pmid:19152422 + Crooked tip of nose + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Deviated tip of nose + Distortion of the nasal tip + ORCID:0000-0001-5889-4463 - + - Deviated nasal tip + ORCID:0000-0001-5889-4463 + Asymmetry of tip of nose - orcid.org/0000-0001-5889-4463 - Asymmetry of nasal tip + ORCID:0000-0001-5889-4463 + Crooked nasal tip - orcid.org/0000-0001-5889-4463 - Distortion of the nasal tip + Deviated nasal tip - + - Crooked nasal tip - orcid.org/0000-0001-5889-4463 + Nasal tip positioned to one side of the midline. + pmid:19152422 - - + - orcid.org/0000-0001-5889-4463 - Crooked tip of nose + Asymmetry of nasal tip + ORCID:0000-0001-5889-4463 @@ -334702,62 +336129,62 @@ and two otolith organs that are sensitive to linear acceleration. - Pinched nasal tip + Nasal tip, pinched + ORCID:0000-0001-5889-4463 Thin nasal tip - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Pinched tip of nose + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Narrow tip of nose + Thin tip of nose + ORCID:0000-0001-5889-4463 - Thin tip of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Narrow tip of nose - Nasal tip, pinched + Nasal tip, narrow - Narrow nasal tip + Decrease in width of the nasal tip. + pmid:19152422 - - + - Nasal tip, narrow + Narrow nasal tip - Decrease in width of the nasal tip. - pmid:19152422 + Pinched nasal tip - + + @@ -334783,7 +336210,8 @@ and two otolith organs that are sensitive to linear acceleration. - Drooping nasal tip + ORCID:0000-0001-5889-4463 + Low hanging nasal tip @@ -334795,27 +336223,26 @@ and two otolith organs that are sensitive to linear acceleration. - Hooked tip of nose - orcid.org/0000-0001-5889-4463 + Overhanging nasal tip - Nasal tip, overhanging + Drooping nasal tip - orcid.org/0000-0001-5889-4463 - Low hanging nasal tip + Nasal tip, overhanging - Overhanging nasal tip + Hooked tip of nose + ORCID:0000-0001-5889-4463 @@ -334886,16 +336313,16 @@ and two otolith organs that are sensitive to linear acceleration. - Absent scaphoid bone - HPO:skoehler + ORCID:0000-0001-6908-9849 + Missing scaphoid bone - + - orcid.org/0000-0001-6908-9849 - Missing scaphoid bone + Absent scaphoid bone + HPO:skoehler - + @@ -335038,12 +336465,6 @@ and two otolith organs that are sensitive to linear acceleration. Abnormal number of T cells Abnormality of T cell number - - HPO:skoehler - Abnormality of T cell number - - - A deviation from the normal count of T cells. HPO:probinson @@ -335051,8 +336472,14 @@ and two otolith organs that are sensitive to linear acceleration. - HPO:skoehler Abnormal number of T cells + HPO:skoehler + + + + + Abnormality of T cell number + HPO:skoehler @@ -335160,18 +336587,18 @@ and two otolith organs that are sensitive to linear acceleration. Abnormally shaped skeletal - An abnormality of the form, structure, or size of the skeletal system. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormally shaped skeletal + + An abnormality of the form, structure, or size of the skeletal system. + HPO:probinson + + + @@ -335292,18 +336719,18 @@ and two otolith organs that are sensitive to linear acceleration. Short 2nd long bone of foot - HPO:probinson - Short (hypoplastic) second metatarsal bone. - - - - + ORCID:0000-0001-5208-3432 Short 2nd long bone of foot - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Short (hypoplastic) second metatarsal bone. + + + @@ -335425,8 +336852,8 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-5208-3432 Abnormal bone maturation - orcid.org/0000-0001-5208-3432 @@ -335549,18 +336976,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype Hematoperitoneum - - Hematoperitoneum - orcid.org/0000-0001-6908-9849 - - - Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. HPO:probinson + + Hematoperitoneum + ORCID:0000-0001-6908-9849 + + + @@ -335606,7 +337033,7 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Throat swelling @@ -335849,8 +337276,8 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-5208-3432 Abnormal maturation of breastbone - http://orcid.org/0000-0001-5208-3432 @@ -336185,8 +337612,8 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 Abnormal shape of platelets + ORCID:0000-0001-5208-3432 @@ -336486,19 +337913,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Bleeding from the eye - - orcid.org/0000-0001-5208-3432 - Bleeding from the eye - - - - Bleeding from vessels of the various tissues of the eye. DDD:akelly + + ORCID:0000-0001-5208-3432 + Bleeding from the eye + + + + @@ -336621,18 +338048,18 @@ and two otolith organs that are sensitive to linear acceleration. peter Easy bleeding - - DDD:kfreson - Significant bleeding or hemorrhage without significant precipitating factor. - - - Bleeding with minor or no trauma + + DDD:kfreson + Significant bleeding or hemorrhage without significant precipitating factor. + + + Easy bleeding @@ -336687,18 +338114,18 @@ and two otolith organs that are sensitive to linear acceleration. Bleeding poost-delivery - DDD:akelly - Significant maternal haemorrhage/blood loss following deilvery of a child. - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bleeding poost-delivery + + DDD:akelly + Significant maternal haemorrhage/blood loss following deilvery of a child. + + + @@ -336773,18 +338200,18 @@ and two otolith organs that are sensitive to linear acceleration. Abnormal white blood cell count - HPO:probinson - Number of leukocytes per volume of blood beyond normal limits. - - - - + ORCID:0000-0001-6908-9849 Abnormal white blood cell count - orcid.org/0000-0001-6908-9849 + + HPO:probinson + Number of leukocytes per volume of blood beyond normal limits. + + + @@ -336868,18 +338295,18 @@ and two otolith organs that are sensitive to linear acceleration. Increased blood neutrophil counts - DDD:akelly - Increased number of neutrophils circulating in blood. - - - - - orcid.org/0000-0001-5208-3432 Increased blood neutrophil counts + ORCID:0000-0001-5208-3432 + + DDD:akelly + Increased number of neutrophils circulating in blood. + + + @@ -337159,19 +338586,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Flattened head of long bone of hand - - Flattened head of long bone of hand - orcid.org/0000-0001-5208-3432 - - - - Abnormally flat shape of the heads of the metacarpal bones. HPO:probinson + + Flattened head of long bone of hand + ORCID:0000-0001-5208-3432 + + + + @@ -337196,7 +338623,7 @@ and two otolith organs that are sensitive to linear acceleration. Shortening of all finger bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -337436,32 +338863,32 @@ and two otolith organs that are sensitive to linear acceleration. Short pinky toe - HPO:probinson - Underdevelopment (hypoplasia) of the fifth toe. - - - - + ORCID:0000-0001-5208-3432 Short little toe - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short pinky toe - http://orcid.org/0000-0001-5208-3432 Short pinkie toe + ORCID:0000-0001-5208-3432 + + HPO:probinson + Underdevelopment (hypoplasia) of the fifth toe. + + + @@ -337500,19 +338927,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Curvature of 4th toe - - Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). - HPO:probinson - - - Curvature of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). + HPO:probinson + + + @@ -337803,17 +339230,17 @@ and two otolith organs that are sensitive to linear acceleration. peter - HPO:skoehler - Very short digits + Short digit - + - Short digit + HPO:skoehler + Very short digits - + HPO:probinson @@ -337866,7 +339293,7 @@ and two otolith organs that are sensitive to linear acceleration. Short innermost toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -337910,15 +339337,15 @@ and two otolith organs that are sensitive to linear acceleration. Stretchable chest skin - orcid.org/0000-0001-5208-3432 - Hyperelastic chest skin + ORCID:0000-0001-5208-3432 + Stretchable chest skin - Stretchable chest skin - orcid.org/0000-0001-5208-3432 + Hyperelastic chest skin + ORCID:0000-0001-5208-3432 @@ -338046,12 +339473,6 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - HPO:skoehler - Long cerebellar peduncle - - - Elongated superior cerebellar peduncles HPO:skoehler @@ -338064,6 +339485,12 @@ and two otolith organs that are sensitive to linear acceleration. + + HPO:skoehler + Long cerebellar peduncle + + + @@ -338155,18 +339582,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Decreased plasma total carnitine - - - - A decreased concentration of total carnitine in the blood. HPO:probinson + + Decreased plasma total carnitine + + + + @@ -338205,14 +339632,7 @@ and two otolith organs that are sensitive to linear acceleration. Small fifth toenail - orcid.org/0000-0001-5208-3432 - Underdeveloped fifth toenail - - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small fifth toenail @@ -338224,6 +339644,13 @@ and two otolith organs that are sensitive to linear acceleration. + + Underdeveloped fifth toenail + ORCID:0000-0001-5208-3432 + + + + @@ -338242,7 +339669,7 @@ and two otolith organs that are sensitive to linear acceleration. Webbed 3rd-4th finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -338472,7 +339899,14 @@ and two otolith organs that are sensitive to linear acceleration. peter - Respiratory tract infection + HPO:skoehler + Respiratory infections + + + + + + Respiratory infection @@ -338484,14 +339918,7 @@ and two otolith organs that are sensitive to linear acceleration. - HPO:skoehler - Respiratory infections - - - - - - Respiratory infection + Respiratory tract infection @@ -338512,18 +339939,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - An acute infection of the upper or lower respiratory tract. - DDD:tkuijpers - - - Acute respiratory tract infection + + An acute infection of the upper or lower respiratory tract. + DDD:tkuijpers + + + @@ -338642,7 +340069,7 @@ and two otolith organs that are sensitive to linear acceleration. Nodular regenerative hyperplasia of liver - + 2012-06-21T09:06:10Z Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. HP:0011954 @@ -338668,8 +340095,8 @@ and two otolith organs that are sensitive to linear acceleration. Hepatic granulomatosis - + 2012-06-21T09:11:32Z HP:0011955 The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. @@ -338741,19 +340168,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Abnormal pec muscles - - Abnormal pec muscles - orcid.org/0000-0001-5208-3432 - - - - An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormal pec muscles + + + + @@ -338797,6 +340224,13 @@ and two otolith organs that are sensitive to linear acceleration. Torn retina Retinal tear + + ORCID:0000-0001-5208-3432 + Torn retina + + + + A small hole through the whole thickness of the retina. HPO:probinson @@ -338804,19 +340238,12 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Retinal tear - - orcid.org/0000-0001-5208-3432 - Torn retina - - - - @@ -338835,24 +340262,24 @@ and two otolith organs that are sensitive to linear acceleration. Underdeveloped pec muscle on one side - HPO:probinson - Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. + ORCID:0000-0001-5208-3432 + Underdeveloped pec muscle on one side - + + - orcid.org/0000-0001-5208-3432 Small pec muscle on one side + ORCID:0000-0001-5208-3432 - Underdeveloped pec muscle on one side - orcid.org/0000-0001-5208-3432 + HPO:probinson + Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. - - + @@ -339123,19 +340550,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Copper deficiency - - A reduced concentration of copper in the blood. - HPO:probinson - - - Copper deficiency - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + A reduced concentration of copper in the blood. + HPO:probinson + + + @@ -339157,7 +340584,7 @@ and two otolith organs that are sensitive to linear acceleration. - Feeding difficulties + Feeding problems @@ -339169,7 +340596,7 @@ and two otolith organs that are sensitive to linear acceleration. - Feeding problems + Feeding difficulties @@ -339230,18 +340657,18 @@ and two otolith organs that are sensitive to linear acceleration. HP:0030343 Increased circulating luteinizing hormone level - - Elevated LH level - - - - An elevated concentration of luteinizing hormone in the blood. HPO:probinson + + Elevated LH level + + + + @@ -339311,18 +340738,18 @@ and two otolith organs that are sensitive to linear acceleration. Low glucose levels in cerebral spinal fluid - Abnormally low glucose concentration content in the cerebrospinal fluid. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Low glucose levels in cerebral spinal fluid - orcid.org/0000-0001-5208-3432 + + Abnormally low glucose concentration content in the cerebrospinal fluid. + HPO:probinson + + + @@ -339435,18 +340862,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Elevated urinary catecholamines - - - - An increased concentration of catecholamine in the urine. HPO:probinson + + Elevated urinary catecholamines + + + + @@ -339597,18 +341024,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Elevated urinary dopamine - - - - An increased concentration of dopamine in the urine. HPO:probinson + + Elevated urinary dopamine + + + + @@ -339761,8 +341188,8 @@ and two otolith organs that are sensitive to linear acceleration. Clay colored stools + ORCID:0000-0001-5208-3432 Clay colored stools - orcid.org/0000-0001-5208-3432 @@ -339822,18 +341249,18 @@ and two otolith organs that are sensitive to linear acceleration. Calcification of muscle tissue - Formation of abnormal bony tissue within muscle tissue. - HPO:probinson - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Calcification of muscle tissue + + Formation of abnormal bony tissue within muscle tissue. + HPO:probinson + + + @@ -340057,6 +341484,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0344722 human_phenotype peter + Fyler:2002 Abnormal interatrial septum morphology Abnormality of the atrial septum @@ -340067,8 +341495,8 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-5208-3432 Abnormal interatrial septum morphology - orcid.org/0000-0001-5208-3432 @@ -340180,18 +341608,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Paranoia - - - - A persecutory delusion of supposed hostility of others. HPO:probinson + + Paranoia + + + + @@ -340621,7 +342049,23 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0023309 human_phenotype peter + Dislocated lenses + Dislocated lens + + Dislocated lenses + + + + + + + Dislocated lens + ORCID:0000-0002-6548-5200 + + + + Complete dislocation of the lens of the eye. HPO:probinson @@ -340646,6 +342090,7 @@ and two otolith organs that are sensitive to linear acceleration. UMLS:C0035615 human_phenotype peter + Fyler:2720 Aorta descends on right instead of on the left. @@ -340766,19 +342211,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Increased urinary galactose level - - Increased urinary galactose level - orcid.org/0000-0001-5208-3432 - - - - Elevated concentration of galactose in the urine. HPO:probinson + + ORCID:0000-0001-5208-3432 + Increased urinary galactose level + + + + @@ -340927,8 +342372,8 @@ and two otolith organs that are sensitive to linear acceleration. High blood ornithine levels - orcid.org/0000-0001-5208-3432 High blood ornithine levels + ORCID:0000-0001-5208-3432 @@ -341004,18 +342449,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - hepatocellular adenoma - MPATH:353 - - - A benign tumor of the liver of presumably epithelial origin. HPO:probinson + + hepatocellular adenoma + MPATH:353 + + + @@ -341115,8 +342560,8 @@ and two otolith organs that are sensitive to linear acceleration. High urine cortisol level + ORCID:0000-0001-5208-3432 High urine cortisol level - orcid.org/0000-0001-5208-3432 @@ -341326,19 +342771,19 @@ and two otolith organs that are sensitive to linear acceleration. peter Wasting of pec muscles - - HPO:probinson - Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. - - - Wasting of pec muscles - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:probinson + Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. + + + @@ -341635,20 +343080,20 @@ and two otolith organs that are sensitive to linear acceleration. peter Day blindness - - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5208-3432 - Day blindness - - - - A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. HPO:probinson + + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + Day blindness + + + + @@ -341716,8 +343161,8 @@ and two otolith organs that are sensitive to linear acceleration. Extreme generalized edema + ORCID:0000-0001-5208-3432 Extreme generalized edema - orcid.org/0000-0001-5208-3432 @@ -341749,8 +343194,8 @@ and two otolith organs that are sensitive to linear acceleration. Low blood sugar after a meal + ORCID:0000-0001-5208-3432 Low blood sugar after a meal - orcid.org/0000-0001-5208-3432 @@ -342168,6 +343613,12 @@ and two otolith organs that are sensitive to linear acceleration. hecht human_phenotype + + Bone cyst + + + + Bone cysts @@ -342180,12 +343631,6 @@ and two otolith organs that are sensitive to linear acceleration. - - Bone cyst - - - - @@ -342369,8 +343814,8 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-5208-3432 High urine glycopeptide levels - http://orcid.org/0000-0001-5208-3432 @@ -342395,7 +343840,7 @@ and two otolith organs that are sensitive to linear acceleration. High urine aspartylglucosamine levels - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -342652,18 +344097,18 @@ and two otolith organs that are sensitive to linear acceleration. hecht human_phenotype - - An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. - HPO:probinson - - - Specific personality disorders ICD-10:F60 + + An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. + HPO:probinson + + + @@ -342682,18 +344127,18 @@ and two otolith organs that are sensitive to linear acceleration. hecht human_phenotype - - A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. - HPO:probinson - - - Emotionally unstable personality disorder, borderline type ICD-10:F60.3 + + A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. + HPO:probinson + + + @@ -342712,18 +344157,18 @@ and two otolith organs that are sensitive to linear acceleration. hecht human_phenotype - - A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention. - ICD-10:F60.4 - - - Histrionic personality disorder ICD-10:F60.4 + + A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention. + ICD-10:F60.4 + + + @@ -342964,8 +344409,8 @@ and two otolith organs that are sensitive to linear acceleration. High urine neutrophil count - orcid.org/0000-0001-5208-3432 High urine neutrophil count + ORCID:0000-0001-5208-3432 @@ -343017,26 +344462,26 @@ and two otolith organs that are sensitive to linear acceleration. Abnormal urine color - Abnormal urinary color + An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. + HPO:probinson - - + - Abnormal urinary colour + Abnormal urine color + ORCID:0000-0001-5208-3432 - An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. - HPO:probinson + Abnormal urinary color - + + - Abnormal urine color - orcid.org/0000-0001-5208-3432 + Abnormal urinary colour @@ -343103,6 +344548,12 @@ and two otolith organs that are sensitive to linear acceleration. peter Abnormal urine smell + + Abnormal urinary odour + + + + Abnormal urinary odor @@ -343110,8 +344561,8 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-5208-3432 Abnormal urine smell - orcid.org/0000-0001-5208-3432 @@ -343122,12 +344573,6 @@ and two otolith organs that are sensitive to linear acceleration. - - Abnormal urinary odour - - - - @@ -343154,7 +344599,7 @@ and two otolith organs that are sensitive to linear acceleration. Inflammation of artery - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -343195,7 +344640,7 @@ and two otolith organs that are sensitive to linear acceleration. Abnormally shaped pancreas - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormally shaped pancreas @@ -343279,16 +344724,16 @@ and two otolith organs that are sensitive to linear acceleration. Abnormal exocrine pancreatic function - A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. - HPO:probinson + Abnormal exocrine pancreatic function + HPO:skoehler - + - HPO:skoehler - Abnormal exocrine pancreatic function + A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. + HPO:probinson - + @@ -343368,18 +344813,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Abnormal pancreas size - - - - A deviation from the normal size of the pancreas. HPO:probinson + + Abnormal pancreas size + + + + @@ -343579,10 +345024,10 @@ and two otolith organs that are sensitive to linear acceleration. Abnormal blood creatinine level - Creatinine levels abnormal + An abnormal concentration of creatinine in the blood. + HPO:probinson - - + Abnormal blood creatinine level @@ -343591,10 +345036,10 @@ and two otolith organs that are sensitive to linear acceleration. - An abnormal concentration of creatinine in the blood. - HPO:probinson + Creatinine levels abnormal - + + @@ -343645,12 +345090,6 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype Low blood creatinine level - - An abnormally reduced amount of creatinine in the blood. - HPO:probinson - - - Reduced creatinine levels @@ -343663,6 +345102,12 @@ and two otolith organs that are sensitive to linear acceleration. + + An abnormally reduced amount of creatinine in the blood. + HPO:probinson + + + Decreased serum creatinine @@ -343872,7 +345317,7 @@ and two otolith organs that are sensitive to linear acceleration. Wide calf bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -344109,6 +345554,12 @@ and two otolith organs that are sensitive to linear acceleration. hecht human_phenotype + + Abnormality of creatine metabolism + + + + Creatine metabolism abnormal @@ -344121,12 +345572,6 @@ and two otolith organs that are sensitive to linear acceleration. - - Abnormality of creatine metabolism - - - - @@ -344218,8 +345663,8 @@ and two otolith organs that are sensitive to linear acceleration. - + 2012-09-16T05:03:29Z HP:0012115 Inflammation of the liver. @@ -344288,18 +345733,18 @@ and two otolith organs that are sensitive to linear acceleration. hecht human_phenotype - - Abnormal albumin level - - - - Deviation from normal concentration of albumin in the blood. HPO:probinson + + Abnormal albumin level + + + + @@ -344349,12 +345794,6 @@ and two otolith organs that are sensitive to linear acceleration. High blood albumin levels High albumin - - Elevation in the concentration of albumin in the blood. - HPO:probinson - - - High albumin @@ -344362,12 +345801,18 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High blood albumin levels + + Elevation in the concentration of albumin in the blood. + HPO:probinson + + + @@ -344503,7 +345948,7 @@ and two otolith organs that are sensitive to linear acceleration. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High blood methylmalonic acid levels @@ -344575,8 +346020,8 @@ and two otolith organs that are sensitive to linear acceleration. Choroiditis + ORCID:0000-0001-5208-3432 Choroiditis - orcid.org/0000-0001-5208-3432 @@ -344709,8 +346154,8 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-5208-3432 High urine uracil levels - orcid.org/0000-0001-5208-3432 @@ -344902,6 +346347,12 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter + + Bone marrow biopsy shows erythroid hyperplasia + HPO:skoehler + + + Bone marrow smear shows erythroid hyperplasia HPO:skoehler @@ -344914,12 +346365,6 @@ and two otolith organs that are sensitive to linear acceleration. - - Bone marrow biopsy shows erythroid hyperplasia - HPO:skoehler - - - @@ -345501,24 +346946,24 @@ and two otolith organs that are sensitive to linear acceleration. + ORCID:0000-0001-5208-3432 Low blood triglyceride levels - http://orcid.org/0000-0001-5208-3432 - - An decrease in the level of triglycerides in the blood. - HPO:probinson - - - Decreased circulating Tg levels + + An decrease in the level of triglycerides in the blood. + HPO:probinson + + + @@ -345895,18 +347340,18 @@ and two otolith organs that are sensitive to linear acceleration. human_phenotype peter - - Head-banging - - - - HPO:probinson Habitual striking of one's own head against a surface such as a mattress or wall of a crib. + + Head-banging + + + + @@ -346120,8 +347565,8 @@ and two otolith organs that are sensitive to linear acceleration. Abnormality of natural killer cells - HPO:skoehler Abnormal NK cells + HPO:skoehler @@ -346236,44 +347681,44 @@ and two otolith organs that are sensitive to linear acceleration. Facial Dystonia A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. + + Abnormal craniofacial muscle tone + ORCID:0000-0001-5889-4463 + + + + Facial Dystonia - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormal craniofacial posture - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - HPO:probinson - A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. + Abnormal facial muscle tone + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 Distorted craniofacial posture - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormal facial muscle tone - - - - - orcid.org/0000-0001-5889-4463 - Abnormal craniofacial muscle tone + HPO:probinson + A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. - - + @@ -346421,18 +347866,18 @@ and two otolith organs that are sensitive to linear acceleration. High blood HDL level Hyperalphalipoproteinemia - - An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. - HPO:probinson - - - High blood HDL level + + An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. + HPO:probinson + + + @@ -346817,8 +348262,8 @@ and two otolith organs that are sensitive to linear acceleration. HPO:probinson The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. - pmid:25022750 pmid:17768394 + pmid:25022750 @@ -346853,12 +348298,6 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Cluster headache syndrome - ICD-10:G44.0 - - - A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. HPO:probinson @@ -346866,6 +348305,12 @@ Additionally, the headaches cannot attributed to another disorder. + + Cluster headache syndrome + ICD-10:G44.0 + + + @@ -347065,18 +348510,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Abnormal sperm motility - - - - An anomaly of the mobility of ejaculated sperm. HPO:probinson + + Abnormal sperm motility + + + + @@ -347217,24 +348662,25 @@ Additionally, the headaches cannot attributed to another disorder.UMLS:C0266292 human_phenotype peter + Fyler:4512 Kidney structure issue Abnormal kidney morphology Abnormally shaped kidney - Structural kidney abnormalities + Kidney structure issue - Kidney structure issue + Structural kidney abnormalities - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal kidney morphology @@ -347246,8 +348692,8 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 Abnormally shaped kidney + ORCID:0000-0001-5208-3432 @@ -347311,9 +348757,10 @@ Additionally, the headaches cannot attributed to another disorder. - Abnormal renal function - HPO:skoehler + Abnormal kidney function + ORCID:0000-0001-5208-3432 + @@ -347323,10 +348770,9 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 - Abnormal kidney function + HPO:skoehler + Abnormal renal function - @@ -347632,12 +349078,6 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Ruptured spleen - - - - A breach of the capsule of the spleen. HPO:probinson @@ -347650,6 +349090,12 @@ Additionally, the headaches cannot attributed to another disorder. + + Ruptured spleen + + + + @@ -347704,39 +349150,34 @@ Additionally, the headaches cannot attributed to another disorder.Partial anodontia of primary teeth - orcid.org/0000-0001-5889-4463 - Fewer primary teeth than normal + ORCID:0000-0001-5889-4463 + Missing some milk teeth + - Fewer deciduous teeth than normal - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Partial anodontia of deciduous teeth - + - orcid.org/0000-0001-5889-4463 - Decreased number of deciduous teeth + Fewer deciduous teeth than normal + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased number of milk teeth + ORCID:0000-0001-5889-4463 + Fewer baby teeth than normal - orcid.org/0000-0001-5889-4463 - Failure of development of some deciduous teeth - - - - - orcid.org/0000-0001-5889-4463 Decreased number of primary teeth + ORCID:0000-0001-5889-4463 @@ -347747,57 +349188,62 @@ Additionally, the headaches cannot attributed to another disorder. - Missing some baby teeth - orcid.org/0000-0001-5889-4463 + Decreased number of baby teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Partial anodontia of deciduous teeth + ORCID:0000-0001-5889-4463 + Partial anodontia of primary teeth - Failure of development of some primary teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Fewer primary teeth than normal - + - orcid.org/0000-0001-5889-4463 - Decreased number of baby teeth + ORCID:0000-0001-5889-4463 + Missing some baby teeth - Fewer baby teeth than normal - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing some primary teeth - orcid.org/0000-0001-5889-4463 - Partial anodontia of primary teeth + Decreased number of milk teeth + ORCID:0000-0001-5889-4463 + + + + + + Failure of development of some primary teeth + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Missing some milk teeth + Decreased number of deciduous teeth + ORCID:0000-0001-5889-4463 - - Missing some primary teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Failure of development of some deciduous teeth - - + @@ -347903,18 +349349,18 @@ Additionally, the headaches cannot attributed to another disorder. - - Tension-type headache - ICD-10:G44.2 - - - A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. HPO:probinson + + Tension-type headache + ICD-10:G44.2 + + + @@ -347981,7 +349427,7 @@ Additionally, the headaches cannot attributed to another disorder. A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. HPO:probinson - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -348026,18 +349472,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - HPO:skoehler - Intramuscular hematomas - - - Blood clot formed within muscle tissue following leakage of blood into the tissue. HPO:probinson + + HPO:skoehler + Intramuscular hematomas + + + @@ -348150,18 +349596,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Elevated sweat chloride - - - - An increased concentration of chloride in the sweat. HPO:probinson + + Elevated sweat chloride + + + + @@ -348214,7 +349660,7 @@ Additionally, the headaches cannot attributed to another disorder. High urine urocanic acid levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -348334,8 +349780,8 @@ Additionally, the headaches cannot attributed to another disorder. true - + @@ -348346,8 +349792,8 @@ Additionally, the headaches cannot attributed to another disorder. true + - @@ -348653,6 +350099,7 @@ Additionally, the headaches cannot attributed to another disorder.UMLS:C4022992 human_phenotype peter + Fyler:4235 A structural anomaly of the respiratory system. @@ -349358,19 +350805,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Low blood glycine levels - - orcid.org/0000-0001-5208-3432 - Low blood glycine levels - - - - An abnormally reduced concentration of glycine in the blood. HPO:probinson + + ORCID:0000-0001-5208-3432 + Low blood glycine levels + + + + @@ -349459,7 +350906,7 @@ Additionally, the headaches cannot attributed to another disorder.Low blood serine levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Low blood serine levels @@ -349478,8 +350925,8 @@ Additionally, the headaches cannot attributed to another disorder. Hepatic amyloidosis - + 2013-04-07T03:59:46Z A form of amyloidosis that affects the liver. HP:0012280 @@ -349565,8 +351012,8 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 Small end part of outermost thighbone + ORCID:0000-0001-5208-3432 @@ -349610,14 +351057,7 @@ Additionally, the headaches cannot attributed to another disorder.Small end part of innermost shinbone - orcid.org/0000-0001-5208-3432 - Small end part of innermost shinbone - - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of innermost shankbone @@ -349629,6 +351069,13 @@ Additionally, the headaches cannot attributed to another disorder. + + ORCID:0000-0001-5208-3432 + Small end part of innermost shinbone + + + + @@ -349714,8 +351161,8 @@ Additionally, the headaches cannot attributed to another disorder.Abnormal shape of hypothalamus - orcid.org/0000-0001-5208-3432 Abnormal shape of hypothalamus + ORCID:0000-0001-5208-3432 @@ -349768,19 +351215,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Head and neck tumor - - Head and neck tumor - orcid.org/0000-0001-5208-3432 - - - - A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. HPO:probinson + + Head and neck tumor + ORCID:0000-0001-5208-3432 + + + + @@ -349829,19 +351276,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Face tumor - - orcid.org/0000-0001-5208-3432 - Face tumor - - - - A tumor (abnormal growth of tissue) of the face. HPO:probinson + + Face tumor + ORCID:0000-0001-5208-3432 + + + + @@ -349892,18 +351339,18 @@ Additionally, the headaches cannot attributed to another disorder.Mouth tumor - A tumor (abnormal growth of tissue) of the mouth. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Mouth tumor - orcid.org/0000-0001-5208-3432 + + A tumor (abnormal growth of tissue) of the mouth. + HPO:probinson + + + @@ -349963,48 +351410,48 @@ Additionally, the headaches cannot attributed to another disorder.Synechia of the gums - orcid.org/0000-0001-5889-4463 - Partial fusion of the gums + Fusion of the gingiva + ORCID:0000-0001-5889-4463 - - A congenital defect with an abnormal joining of the gums of the upper and lower jaw. - HPO:probinson - pmid:19858676 + ORCID:0000-0001-5889-4463 + Synechia of the gums - + - Fusion of gums + Upper and lower gums fused together + ORCID:0000-0001-5889-4463 - Synechia of the gums - orcid.org/0000-0001-5889-4463 + Fusion of gums + - Upper and lower gums fused together - orcid.org/0000-0001-5889-4463 + Gingival synechia + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Fusion of the gingiva + A congenital defect with an abnormal joining of the gums of the upper and lower jaw. + HPO:probinson + pmid:19858676 - + - orcid.org/0000-0001-5889-4463 - Gingival synechia + ORCID:0000-0001-5889-4463 + Partial fusion of the gums + @@ -350136,18 +351583,18 @@ Additionally, the headaches cannot attributed to another disorder.Slender middle bone of finger - HPO:probinson - Reduced diameter of the middle phalanx of finger. - - - - + ORCID:0000-0001-5208-3432 Slender middle bone of finger - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Reduced diameter of the middle phalanx of finger. + + + @@ -350191,8 +351638,8 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 Slender outermost bone of finger + ORCID:0000-0001-5208-3432 @@ -350233,19 +351680,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Slender innermost bone of finger - - Slender innermost bone of finger - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Reduced diameter of the proximal phalanx of finger. + + Slender innermost bone of finger + ORCID:0000-0001-5208-3432 + + + + @@ -350289,8 +351736,8 @@ Additionally, the headaches cannot attributed to another disorder. + ORCID:0000-0001-5208-3432 Long middle bone of finger - orcid.org/0000-0001-5208-3432 @@ -350331,19 +351778,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Long outermost bone of finger - - orcid.org/0000-0001-5208-3432 - Long outermost bone of finger - - - - HPO:probinson Increased length of the distal phalanx of finger. + + Long outermost bone of finger + ORCID:0000-0001-5208-3432 + + + + @@ -350452,6 +351899,7 @@ Additionally, the headaches cannot attributed to another disorder.UMLS:C3163801 human_phenotype peter + Fyler:2700 Abnormality of the aortic arch @@ -350496,21 +351944,22 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter Aortic arch hypoplasia + Fyler:2704 Underdeveloped aortic arch - HPO:probinson - Underdevelopment of the arch of aorta. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped aortic arch + + HPO:probinson + Underdevelopment of the arch of aorta. + + + @@ -350581,8 +352030,8 @@ Additionally, the headaches cannot attributed to another disorder.Abnormal maturation of rib bones - http://orcid.org/0000-0001-5208-3432 Abnormal maturation of rib bones + ORCID:0000-0001-5208-3432 @@ -350747,19 +352196,19 @@ Additionally, the headaches cannot attributed to another disorder.peter High blood monocyte number - - High blood monocyte number - orcid.org/0000-0001-5208-3432 - - - - An increased number of circulating monocytes. HPO:probinson + + High blood monocyte number + ORCID:0000-0001-5208-3432 + + + + @@ -350798,18 +352247,18 @@ Additionally, the headaches cannot attributed to another disorder.Low blood monocyte number - An decreased number of circulating monocytes. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Low blood monocyte number - orcid.org/0000-0001-5208-3432 + + An decreased number of circulating monocytes. + HPO:probinson + + + @@ -352346,8 +353795,8 @@ Additionally, the headaches cannot attributed to another disorder. + ORCID:0000-0001-5208-3432 Low urine potassium levels - orcid.org/0000-0001-5208-3432 @@ -352399,7 +353848,7 @@ Additionally, the headaches cannot attributed to another disorder.Low urine phosphate levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Low urine phosphate levels @@ -352497,36 +353946,36 @@ Additionally, the headaches cannot attributed to another disorder. - Absence of concavity or convexity of the face when viewed in profile. - pmid:19125436 - - - - - Flat face + ORCID:0000-0001-5889-4463 + Flat facial shape - Flat facial profile HPO:skoehler + Flat facial profile - orcid.org/0000-0001-5889-4463 - Flat facies + Absence of concavity or convexity of the face when viewed in profile. + pmid:19125436 - + - orcid.org/0000-0001-5889-4463 - Flat facial shape + Flat face + + Flat facies + ORCID:0000-0001-5889-4463 + + + @@ -352569,34 +354018,34 @@ Additionally, the headaches cannot attributed to another disorder.Malar anomaly - Anomaly of the malar bones - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malar anomaly - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Deformity of the malar bones - Malformation of the malar bones - orcid.org/0000-0001-5889-4463 + Anomaly of the malar bones + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Malar anomaly + Malformation of the malar bones + ORCID:0000-0001-5889-4463 - + An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. HPO:probinson pmid:19125436 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -352650,56 +354099,56 @@ Additionally, the headaches cannot attributed to another disorder. Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. pmid:19125436 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Zygomatic hypertrophy + ORCID:0000-0001-5889-4463 + Prominence of cheekbone - + + - Hyperplasia of zygomatic bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Zygomatic bone excess - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Cheekbone excess - Pronounced cheekbone - orcid.org/0000-0001-5889-4463 - - - - - - Zygomatic bone excess - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Zygomatic hypertrophy - + Hyperplasia of cheekbone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Malar hypertrophy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Prominence of cheekbone + ORCID:0000-0001-5889-4463 + Hyperplasia of zygomatic bone + + + + + Pronounced cheekbone + ORCID:0000-0001-5889-4463 @@ -352750,11 +354199,10 @@ Additionally, the headaches cannot attributed to another disorder. - HPO:skoehler - Overgrowth of the midface + HPO:skoehler + Midface hyperplasia - - + Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face @@ -352764,45 +354212,46 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5889-4463 - Midfacial prominence + HPO:skoehler + Overgrowth of the midface + + + + + + ORCID:0000-0001-5889-4463 + Midfacial excess Hypertrophy of midface - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Midface hyperplasia - HPO:skoehler + Midfacial prominence + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 Large midface - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Big midface - orcid.org/0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Midfacial excess - - - - @@ -352838,14 +354287,9 @@ Additionally, the headaches cannot attributed to another disorder.UMLS:C4022925 human_phenotype peter + Fyler:4863 Abnormally shaped eye - - Abnormal eye morphology - - - - A structural anomaly of the eye. HPO:probinson @@ -352854,7 +354298,13 @@ Additionally, the headaches cannot attributed to another disorder. Abnormally shaped eye - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + + + + + Abnormal eye morphology @@ -352991,19 +354441,19 @@ Additionally, the headaches cannot attributed to another disorder.Small lens - - orcid.org/0000-0001-5208-3432 - Small lens - - - - Abnormal smallness of the lens. HPO:probinson + + ORCID:0000-0001-5208-3432 + Small lens + + + + @@ -353051,12 +354501,6 @@ Additionally, the headaches cannot attributed to another disorder.Tired Tiredness - - Tired - - - - A subjective feeling of tiredness characterized by a lack of energy and motivation. HPO:probinson @@ -353075,6 +354519,12 @@ Additionally, the headaches cannot attributed to another disorder. + + Tired + + + + @@ -353223,19 +354673,19 @@ Additionally, the headaches cannot attributed to another disorder.Nasal inflammation - - orcid.org/0000-0001-5889-4463 - Nasal inflammation - - - - HPO:probinson Inflammation of the nasal mucosa with nasal congestion. + + ORCID:0000-0001-5889-4463 + Nasal inflammation + + + + @@ -353279,7 +354729,14 @@ Additionally, the headaches cannot attributed to another disorder.Absent big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent big toe + + + + + + ORCID:0000-0001-5208-3432 Missing big toe @@ -353291,13 +354748,6 @@ Additionally, the headaches cannot attributed to another disorder. - - orcid.org/0000-0001-5208-3432 - Absent big toe - - - - @@ -353470,18 +354920,18 @@ Additionally, the headaches cannot attributed to another disorder.peter Mandibular hyporeflexia - - orcid.org/0000-0001-5889-4463 - Mandibular hyporeflexia - - - HPO:probinson Reduced intensity of muscle tendon reflexes in jaw. + + ORCID:0000-0001-5889-4463 + Mandibular hyporeflexia + + + @@ -353618,8 +355068,8 @@ Additionally, the headaches cannot attributed to another disorder. + ORCID:0000-0001-5208-3432 Plaque build-up in aorta artery - orcid.org/0000-0001-5208-3432 @@ -353670,13 +355120,13 @@ Additionally, the headaches cannot attributed to another disorder.peter - A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips. - HPO:probinson + Bedsore - + + - Bedsore + Pressure Sore @@ -353688,10 +355138,10 @@ Additionally, the headaches cannot attributed to another disorder. - Pressure Sore + A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips. + HPO:probinson - - + @@ -353928,18 +355378,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - A deviation from normal of the concentration of citrate(3-) in the urine. - HPO:probinson - - - Abnormal urine citrate concentration + + A deviation from normal of the concentration of citrate(3-) in the urine. + HPO:probinson + + + @@ -354072,21 +355522,21 @@ Additionally, the headaches cannot attributed to another disorder. - Scissors gait - HPO:skoehler + Scissor gait - Scissor gait + Scissors gait + HPO:skoehler - orcid.org/0000-0001-5208-3432 Scissor walk + ORCID:0000-0001-5208-3432 @@ -354178,8 +355628,8 @@ Additionally, the headaches cannot attributed to another disorder.Premature pubic hair growth + ORCID:0000-0001-5208-3432 Premature pubic hair growth - orcid.org/0000-0001-5208-3432 @@ -354207,18 +355657,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - HPO:probinson - Onset of adrenarche at an earlier age than usual. - - - Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). PMID:10414639 + + HPO:probinson + Onset of adrenarche at an earlier age than usual. + + + @@ -354248,51 +355698,51 @@ Additionally, the headaches cannot attributed to another disorder.Notched front primary tooth - HPO:probinson - The presence of a V-shaped indentation (notch) in the primary central incisor. + ORCID:0000-0001-5889-4463 + Notched front deciduous tooth - + - Notched front primary tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hutchinson-boeck teeth - + - orcid.org/0000-0001-5889-4463 - Syphilitic primary incisor + ORCID:0000-0001-5889-4463 + Notched front primary tooth - Hutchinson's incisor - orcid.org/0000-0001-5889-4463 + Hutchinson's sign + ORCID:0000-0001-5889-4463 - Hutchinson's sign - orcid.org/0000-0001-5889-4463 + HPO:probinson + The presence of a V-shaped indentation (notch) in the primary central incisor. - + - orcid.org/0000-0001-5889-4463 - Notched front deciduous tooth + ORCID:0000-0001-5889-4463 + Notched front baby tooth + - orcid.org/0000-0001-5889-4463 - Notched front baby tooth + ORCID:0000-0001-5889-4463 + Syphilitic primary incisor - - orcid.org/0000-0001-5889-4463 - Hutchinson-boeck teeth + ORCID:0000-0001-5889-4463 + Hutchinson's incisor @@ -354365,19 +355815,19 @@ Additionally, the headaches cannot attributed to another disorder.peter High blood carbon dioxide level - - Abnormally elevated blood carbon dioxide (CO2) level. - HPO:probinson - - - High blood carbon dioxide level - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Abnormally elevated blood carbon dioxide (CO2) level. + HPO:probinson + + + @@ -354404,17 +355854,17 @@ Additionally, the headaches cannot attributed to another disorder. - https://en.wikipedia.org/wiki/hypocapnia - http://orcid.org/0000-0001-5208-3432 Reduced carbon dioxide in the blood + https://en.wikipedia.org/wiki/hypocapnia + ORCID:0000-0001-5208-3432 Hypocarbia + ORCID:0000-0001-5208-3432 https://en.wikipedia.org/wiki/hypocapnia - http://orcid.org/0000-0001-5208-3432 @@ -354444,7 +355894,7 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Low blood oxygen level @@ -354638,13 +356088,6 @@ Additionally, the headaches cannot attributed to another disorder.peter Colon ulcer - - Colon ulcer - orcid.org/0000-0001-6908-9849 - - - - An ulcer of the colon due to pressure and irritation from retained fecal masses. ORCID:0000-0001-5208-3432 @@ -354652,6 +356095,13 @@ Additionally, the headaches cannot attributed to another disorder. + + ORCID:0000-0001-6908-9849 + Colon ulcer + + + + @@ -354787,21 +356237,21 @@ Additionally, the headaches cannot attributed to another disorder.Absent/underdeveloped cerebral white matter Absent/small cerebral white matter - - Absence or underdevelopment of the cerebral white matter. - HPO:probinson - - - Absent/underdeveloped cerebral white matter - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + Absence or underdevelopment of the cerebral white matter. + HPO:probinson + + + + + ORCID:0000-0001-5208-3432 Absent/small cerebral white matter @@ -354887,19 +356337,27 @@ Additionally, the headaches cannot attributed to another disorder.UMLS:C0518656 human_phenotype peter + Chronic extreme exhaustion - ORCID:0000-0001-5208-3432 - Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. + Chronic fatigue + ORCID:0000-0002-6548-5200 - + + - Chronic fatigue + Chronic extreme exhaustion + + ORCID:0000-0001-5208-3432 + Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. + + + @@ -354920,28 +356378,28 @@ Additionally, the headaches cannot attributed to another disorder.peter - An abnormality of actions or reactions of a person taking place during interactions with others. - HPO:probinson + Abnormal social behavior - + + - Abnormal social interactions + Abnormal social behaviour - + - Abnormal social behavior + An abnormality of actions or reactions of a person taking place during interactions with others. + HPO:probinson - - + - Abnormal social behaviour + Abnormal social interactions - + @@ -355064,8 +356522,8 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 Abnormal shape of gallbladder + ORCID:0000-0001-5208-3432 @@ -355288,13 +356746,6 @@ Additionally, the headaches cannot attributed to another disorder.peter Abnormal shape of brain - - orcid.org/0000-0001-5208-3432 - Abnormal shape of brain - - - - Abnormality of the brain @@ -355307,6 +356758,13 @@ Additionally, the headaches cannot attributed to another disorder. + + ORCID:0000-0001-5208-3432 + Abnormal shape of brain + + + + @@ -355356,15 +356814,15 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Brain wasting + ORCID:0000-0001-5208-3432 Brain degeneration - orcid.org/0000-0001-5208-3432 @@ -355548,8 +357006,8 @@ Additionally, the headaches cannot attributed to another disorder.Infrequent bowel movements - http://orcid.org/0000-0001-6908-9849 Infrequent bowel movements + ORCID:0000-0001-6908-9849 @@ -355762,12 +357220,6 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Alarm clock headache - - - - A headache disorder that occurs exclusively at night, waking the affected individual from sleep. HPO:probinson @@ -355776,6 +357228,12 @@ Additionally, the headaches cannot attributed to another disorder. + + Alarm clock headache + + + + @@ -355818,10 +357276,11 @@ Additionally, the headaches cannot attributed to another disorder.High urine bacteria - ORCID:0000-0001-5208-3432 - The presence of bacteria in the urine. + Bacteria in urine + ORCID:0000-0001-5208-3432 - + + High urine bacteria @@ -355830,11 +357289,10 @@ Additionally, the headaches cannot attributed to another disorder. - Bacteria in urine - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + The presence of bacteria in the urine. - - + @@ -355954,10 +357412,9 @@ Additionally, the headaches cannot attributed to another disorder.Increased liver iron level - orcid.org/0000-0001-5208-3432 - Increased iron concentration in liver + HPO:skoehler + Increased liver iron level - @@ -355969,9 +357426,10 @@ Additionally, the headaches cannot attributed to another disorder. - Increased liver iron level - HPO:skoehler + ORCID:0000-0001-5208-3432 + Increased iron concentration in liver + @@ -356084,35 +357542,35 @@ Additionally, the headaches cannot attributed to another disorder.peter - Sun setting eyes + Sunsetting eye - An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. - HPO:probinson - pmid:17030938 + Eyes fixed downward - + + - Sunsetting eye + Sun setting eyes - Setting-sun eye phenomenon + An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. + HPO:probinson + pmid:17030938 - - + - Eyes fixed downward + Setting-sun eye phenomenon - + @@ -356135,6 +357593,12 @@ Additionally, the headaches cannot attributed to another disorder.Increased volume of lip vermillion Prominent lips + + ORCID:0000-0001-5889-4463 + Increased volume of lip vermillion + + + HPO:probinson Increased width of the skin of vermilion border region of upper lip. @@ -356142,15 +357606,8 @@ Additionally, the headaches cannot attributed to another disorder. + ORCID:0000-0001-5889-4463 Plump lips - orcid.org/0000-0001-5889-4463 - - - - - - HPO:skoehler - Prominent lips @@ -356162,16 +357619,17 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased volume of lip - orcid.org/0000-0001-5889-4463 - Increased volume of lip vermillion + Prominent lips + HPO:skoehler + @@ -356199,16 +357657,16 @@ Additionally, the headaches cannot attributed to another disorder.Outward turned lips - orcid.org/0000-0001-5889-4463 - Everted lips + Outward turned lips + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Outward turned lips + ORCID:0000-0001-5889-4463 + Everted lips - @@ -356240,21 +357698,14 @@ Additionally, the headaches cannot attributed to another disorder.Wasting of the tongue - orcid.org/0000-0001-5889-4463 Lingual atrophy + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Wasting of the tongue - - - - - + ORCID:0000-0001-5889-4463 Lingual wasting - orcid.org/0000-0001-5889-4463 @@ -356264,6 +357715,13 @@ Additionally, the headaches cannot attributed to another disorder. + + Wasting of the tongue + ORCID:0000-0001-5889-4463 + + + + @@ -356283,19 +357741,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Obstructed carotid artery - - Obstructed carotid artery - orcid.org/0000-0001-5208-3432 - - - - Complete obstruction of a carotid artery. ORCID:0000-0001-5208-3432 + + Obstructed carotid artery + ORCID:0000-0001-5208-3432 + + + + @@ -356372,7 +357830,7 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Shakey voice @@ -356405,35 +357863,35 @@ Additionally, the headaches cannot attributed to another disorder.Adhesion of the temporomandibular joint - Fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. - ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + Rigidity of the temporomandibular joint - + - Freezing of the temporomandibular joint - orcid.org/0000-0001-5889-4463 + Freezing of jaw joint + - orcid.org/0000-0001-5889-4463 - Adhesion of the temporomandibular joint + Fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. + ORCID:0000-0001-5208-3432 - - + - Rigidity of the temporomandibular joint - orcid.org/0000-0001-5889-4463 + Freezing of the temporomandibular joint + ORCID:0000-0001-5889-4463 - Freezing of jaw joint + Adhesion of the temporomandibular joint + ORCID:0000-0001-5889-4463 - - + + @@ -356466,78 +357924,78 @@ Additionally, the headaches cannot attributed to another disorder.Jaw joint grating sound - HPO:probinson - Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. + ORCID:0000-0001-5889-4463 + Jaw joint grating sound - + + - Jaw joint popping sound - orcid.org/0000-0001-5889-4463 + Jaw joint noise + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Jaw joint clicking sound + ORCID:0000-0001-5889-4463 + Temporomandibular joint grating sound - - Temporomandibular joint grating sound - orcid.org/0000-0001-5889-4463 + Temporomandibular joint popping sound + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Temporomandibular joint noise + Temporomandibular joint sounds + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Jaw joint grating sound + ORCID:0000-0001-5889-4463 + Temporomandibular joint noise - - + - Jaw joint sounds - orcid.org/0000-0001-5889-4463 + Jaw joint popping sound + ORCID:0000-0001-5889-4463 - + - Jaw joint crepitus - orcid.org/0000-0001-5889-4463 + Jaw joint clicking sound + ORCID:0000-0001-5889-4463 - + + - Temporomandibular joint sounds - orcid.org/0000-0001-5889-4463 + HPO:probinson + Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. - + - orcid.org/0000-0001-5889-4463 - Temporomandibular joint popping sound + ORCID:0000-0001-5889-4463 + Jaw joint crepitus - + - orcid.org/0000-0001-5889-4463 Temporomandibular joint clicking sound + ORCID:0000-0001-5889-4463 - Jaw joint noise - orcid.org/0000-0001-5889-4463 + Jaw joint sounds + ORCID:0000-0001-5889-4463 @@ -356746,18 +358204,18 @@ Additionally, the headaches cannot attributed to another disorder.Inflammation of spinal cord - HPO:probinson - Inflammation of the spinal cord. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Inflammation of spinal cord + + HPO:probinson + Inflammation of the spinal cord. + + + @@ -356877,14 +358335,7 @@ Additionally, the headaches cannot attributed to another disorder.Inflammation of fat tissue - orcid.org/0000-0001-5208-3432 - Inflammation of fat tissue - - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Inflammation of adipose tissue @@ -356895,6 +358346,13 @@ Additionally, the headaches cannot attributed to another disorder. + + Inflammation of fat tissue + ORCID:0000-0001-5208-3432 + + + + @@ -356936,7 +358394,7 @@ Additionally, the headaches cannot attributed to another disorder. Narrowing of a cerebral artery - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -357410,16 +358868,16 @@ Additionally, the headaches cannot attributed to another disorder.Weakness of orbicularis oculi muscles - HPO:probinson - Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. + HPO:skoehler + Weakness of orbicularis oculi muscles - + - Weakness of orbicularis oculi muscles - HPO:skoehler + HPO:probinson + Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. - + @@ -357582,18 +359040,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. - ORCID:0000-0001-5208-3432 - - - Lower limb pain + + An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. + ORCID:0000-0001-5208-3432 + + + @@ -357718,14 +359176,14 @@ Additionally, the headaches cannot attributed to another disorder. - Abnormality of circle of Willis + Abnormal circle of Willis morphology - + @@ -357750,8 +359208,8 @@ Additionally, the headaches cannot attributed to another disorder.Abnormality of the cerebral arterial circle + ORCID:0000-0001-6908-9849 Abnormality of the cerebral arterial circle - http://orcid.org/0000-0001-6908-9849 @@ -357768,7 +359226,7 @@ Additionally, the headaches cannot attributed to another disorder. Hypoplastic posterior communicating artery - + 2013-12-09T07:06:12Z HP:0012519 Hypoplastic posterior communicating arteries @@ -357829,18 +359287,18 @@ Additionally, the headaches cannot attributed to another disorder.peter Absent optic nerve - - http://orcid.org/0000-0001-6908-9849 - Absent optic nerve - - - Congenital absence of the optic nerve. HPO:probinson + + ORCID:0000-0001-6908-9849 + Absent optic nerve + + + @@ -357964,12 +359422,6 @@ Additionally, the headaches cannot attributed to another disorder.Gray platelets Grey platelets - - Grey platelets - - - - A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. HPO:probinson @@ -357977,6 +359429,12 @@ Additionally, the headaches cannot attributed to another disorder. + + Grey platelets + + + + @@ -358110,7 +359568,15 @@ Additionally, the headaches cannot attributed to another disorder.UMLS:C0150055 human_phenotype peter + Long-lasting pain + + ORCID:0000-0002-6548-5200 + Long-lasting pain + + + + HPO:probinson Persistent pain, usually defined as pain that has laster longer than 3 to 6 months. @@ -358167,18 +359633,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Abnormal sensations with no apparent physical cause that are painful or unpleasant. - ORCID:0000-0001-5208-3432 - - - Dysesthesias HPO:skoehler + + Abnormal sensations with no apparent physical cause that are painful or unpleasant. + ORCID:0000-0001-5208-3432 + + + @@ -358264,18 +359730,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. - HPO:probinson - - - Food intolerance + + A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. + HPO:probinson + + + @@ -358299,7 +359765,7 @@ Additionally, the headaches cannot attributed to another disorder. Gluten sensitivity - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -358358,19 +359824,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Armpit cyst - - An epidermoid cyst in the armpit. - ORCID:0000-0001-5208-3432 - - - Armpit cyst - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + + An epidermoid cyst in the armpit. + ORCID:0000-0001-5208-3432 + + + @@ -358710,8 +360176,8 @@ Additionally, the headaches cannot attributed to another disorder.Small thumbnail - orcid.org/0000-0001-5208-3432 - Underdeveloped thumbnail + Small thumbnail + ORCID:0000-0001-5208-3432 @@ -358723,8 +360189,8 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 - Small thumbnail + Underdeveloped thumbnail + ORCID:0000-0001-5208-3432 @@ -358807,18 +360273,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Absent nail of big toe - - - - Absent nail of big toe. HPO:probinson + + Absent nail of big toe + + + + Absent big toe nail @@ -358873,18 +360339,18 @@ Additionally, the headaches cannot attributed to another disorder.High blood beta-alanine levels - HPO:probinson - Increased concentration of beta-alanine in the blood. - - - - - orcid.org/0000-0001-5208-3432 High blood beta-alanine levels + ORCID:0000-0001-5208-3432 + + HPO:probinson + Increased concentration of beta-alanine in the blood. + + + @@ -359163,34 +360629,34 @@ Additionally, the headaches cannot attributed to another disorder.Puffiness of lower eyelid - Edema in the region of the Lower eyelid. - ORCID:0000-0001-5208-3432 - - - - - Puffiness of lower eyelid - orcid.org/0000-0001-5889-4463 + Fullness of lower eyelid + ORCID:0000-0001-5889-4463 Swelling of lower eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + Edema in the region of the Lower eyelid. + ORCID:0000-0001-5208-3432 + + + + + ORCID:0000-0001-5889-4463 Cellulitis of lower eyelid - orcid.org/0000-0001-5889-4463 - Fullness of lower eyelid + Puffiness of lower eyelid + ORCID:0000-0001-5889-4463 @@ -359232,19 +360698,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Delayed start of first period - - First period after the age of 15 years. - HPO:probinson - - - Delayed start of first period - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + First period after the age of 15 years. + HPO:probinson + + + @@ -359272,8 +360738,8 @@ Additionally, the headaches cannot attributed to another disorder. - http://orcid.org/0000-0001-6908-9849 Malignant synovioma + ORCID:0000-0001-6908-9849 @@ -359295,18 +360761,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - A partial duplication of the ureter such that the duplicated ureters fuse to a single ureter before their insertion into the bladder. - Eurenomics:ewuehl - - - Duplication of ureter ICD-10:Q62.5 + + A partial duplication of the ureter such that the duplicated ureters fuse to a single ureter before their insertion into the bladder. + Eurenomics:ewuehl + + + @@ -359586,18 +361052,18 @@ Additionally, the headaches cannot attributed to another disorder.Simple kidney cyst - An isolated cyst of the kidney. - Eurenomics:ewuehl - - - - + ORCID:0000-0001-6908-9849 Simple kidney cyst - http://orcid.org/0000-0001-6908-9849 + + An isolated cyst of the kidney. + Eurenomics:ewuehl + + + @@ -359639,15 +361105,15 @@ Additionally, the headaches cannot attributed to another disorder.Small kidney on one side - Underdeveloped kidney on one side - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small kidney on one side - Small kidney on one side - orcid.org/0000-0001-5208-3432 + Underdeveloped kidney on one side + ORCID:0000-0001-5208-3432 @@ -359717,19 +361183,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Kidney degeneration - - Kidney degeneration - orcid.org/0000-0001-5208-3432 - - - - Atrophy of the kidney. HPO:probinson + + Kidney degeneration + ORCID:0000-0001-5208-3432 + + + + @@ -359770,18 +361236,18 @@ Additionally, the headaches cannot attributed to another disorder.peter Bilateral kidney degeneration - - orcid.org/0000-0001-5208-3432 - Bilateral kidney degeneration - - - A two-sided form of atrophy of the kidney. HPO:probinson + + Bilateral kidney degeneration + ORCID:0000-0001-5208-3432 + + + @@ -359801,24 +361267,24 @@ Additionally, the headaches cannot attributed to another disorder.Gross hematuria - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Bloody urine - - http://orcid.org/0000-0001-6908-9849 - Gross hematuria - - - HPO:sdoelken Hematuria that is visible upon inspection of the urine. + + ORCID:0000-0001-6908-9849 + Gross hematuria + + + @@ -360011,18 +361477,18 @@ Additionally, the headaches cannot attributed to another disorder.High urine albumin levels - Eurenomics:fschaefer - The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day). - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 High urine albumin levels + + Eurenomics:fschaefer + The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day). + + + @@ -360083,7 +361549,7 @@ Additionally, the headaches cannot attributed to another disorder. Severly high blood protein levels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -360294,19 +361760,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Low urine chloride levels - - Low urine chloride levels - orcid.org/0000-0001-5208-3432 - - - - An decreased concentration of chloride in the urine. HPO:probinson + + ORCID:0000-0001-5208-3432 + Low urine chloride levels + + + + @@ -360425,19 +361891,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Low urine sodium levels - - orcid.org/0000-0001-5208-3432 - Low urine sodium levels - - - - An abnormally decreased sodium concentration in the urine. Eurenomics:ewuehl + + ORCID:0000-0001-5208-3432 + Low urine sodium levels + + + + @@ -360669,18 +362135,18 @@ Additionally, the headaches cannot attributed to another disorder.Low urine magnesium levels - An decreased concentration of magnesium the urine. - Eurenomics:fschaefer - - - - - orcid.org/0000-0001-5208-3432 Low urine magnesium levels + ORCID:0000-0001-5208-3432 + + An decreased concentration of magnesium the urine. + Eurenomics:fschaefer + + + Decreased urine magnesium @@ -361050,8 +362516,8 @@ Additionally, the headaches cannot attributed to another disorder. + ORCID:0000-0001-6908-9849 Multiple pouches in bladder wall - orcid.org/0000-0001-6908-9849 @@ -361250,18 +362716,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Stage 4 chronic kidney disease - - - - A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). Eurenomics:fschaefer + + Stage 4 chronic kidney disease + + + + @@ -361291,14 +362757,14 @@ Additionally, the headaches cannot attributed to another disorder. - Abnormality of the suspensory ligament of lens + Abnormal suspensory ligament of lens morphology - + @@ -361312,7 +362778,7 @@ Additionally, the headaches cannot attributed to another disorder. - + 2014-01-17T10:59:37Z An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. Ciliary zonule abnormality @@ -361322,26 +362788,27 @@ Additionally, the headaches cannot attributed to another disorder.peter Abnormality of zinn's membrane Zonule of zinn abnormality + Abnormality of the suspensory ligament of lens - https://en.wikipedia.org/wiki/zonule_of_zinn - Zonule of zinn abnormality - orcid.org/0000-0001-6908-9849 + An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. + HPO:probinson - + - Abnormality of zinn's membrane https://en.wikipedia.org/wiki/zonule_of_zinn - orcid.org/0000-0001-6908-9849 + Zonule of zinn abnormality + ORCID:0000-0001-6908-9849 - An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. - HPO:probinson + https://en.wikipedia.org/wiki/zonule_of_zinn + ORCID:0000-0001-6908-9849 + Abnormality of zinn's membrane - + @@ -361363,8 +362830,8 @@ Additionally, the headaches cannot attributed to another disorder.Trembling eye lens + ORCID:0000-0001-6908-9849 Trembling eye lens - orcid.org/0000-0001-6908-9849 @@ -361458,8 +362925,8 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-6908-9849 Abnormal eye pressure + ORCID:0000-0001-6908-9849 @@ -361569,19 +363036,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Kidney calcium wasting - - orcid.org/0000-0001-6908-9849 - Kidney calcium wasting - - - - HPO:probinson High urine calcium in the presence of hypocalcemia. + + Kidney calcium wasting + ORCID:0000-0001-6908-9849 + + + + @@ -361658,6 +363125,8 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter Abnormal shape of nervous system + Fyler:4300 + Fyler:4135 Abnormal nervous system morphology @@ -361667,13 +363136,13 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5208-3432 Abnormal nervous system morphology + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal shape of nervous system @@ -361858,18 +363327,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - HPO:probinson - Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. - - - Enlarged peripheral nerves HPO:skoehler + + HPO:probinson + Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. + + + @@ -361931,18 +363400,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. - MONARCH:mhaendel - - - Abnormal inflammatory response + + Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. + MONARCH:mhaendel + + + @@ -361979,18 +363448,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - An abnormal reduction in the inflammatory response to injury or infection. - MONARCH:mhaendel - - - Decreased inflammatory response + + An abnormal reduction in the inflammatory response to injury or infection. + MONARCH:mhaendel + + + @@ -362093,18 +363562,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Exercise-induced asthma - - - - Asthma attacks following exercise. HPO:probinson + + Exercise-induced asthma + + + + @@ -362123,6 +363592,12 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter + + Acute severe asthma + + + + HPO:probinson Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine. @@ -362130,12 +363605,6 @@ Additionally, the headaches cannot attributed to another disorder. - - Acute severe asthma - - - - @@ -362668,7 +364137,7 @@ Additionally, the headaches cannot attributed to another disorder. Absent upper vagina - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -362697,19 +364166,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Absent lower vagina - - orcid.org/0000-0001-5208-3432 - Absent lower vagina - - - - A failure to develop of the lower part of the vagina. HPO:probinson + + Absent lower vagina + ORCID:0000-0001-5208-3432 + + + + @@ -362757,18 +364226,18 @@ Additionally, the headaches cannot attributed to another disorder.hecht human_phenotype - - An abnormal build up of iron (Fe) in brain tissue. - HPO:probinson - - - Iron accumulation in brain + + An abnormal build up of iron (Fe) in brain tissue. + HPO:probinson + + + @@ -362816,18 +364285,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype Brain copper accumulation - - Copper accumulation in brain - - - - An anomalous build up of copper (Cu) in the brain. HPO:probinson + + Copper accumulation in brain + + + + @@ -363662,19 +365131,19 @@ Additionally, the headaches cannot attributed to another disorder.peter Anomaly of shaft of long bone of lower limb - - Anomaly of shaft of long bone of lower limb - orcid.org/0000-0001-5208-3432 - - - - A structural abnormality of a diaphysis of the leg. UToronto:htrang + + ORCID:0000-0001-5208-3432 + Anomaly of shaft of long bone of lower limb + + + + @@ -363800,18 +365269,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - HPO:skoehler - Widened subarachnoid spaces - - - An increase in size of the anatomic space between the arachnoid membrane and pia mater. HPO:probinson + + HPO:skoehler + Widened subarachnoid spaces + + + @@ -363978,8 +365447,8 @@ Additionally, the headaches cannot attributed to another disorder. - http://orcid.org/0000-0001-5208-3432 Delayed maturation of the end part of the verebral bone + ORCID:0000-0001-5208-3432 @@ -364028,18 +365497,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Moderate hearing impairment - - - - HPO:probinson The presence of a moderate form of hearing impairment. + + Moderate hearing impairment + + + + @@ -364060,30 +365529,30 @@ Additionally, the headaches cannot attributed to another disorder.Severe hearing loss - Severe hearing impairment + ORCID:0000-0001-6908-9849 + Severe hearing loss - orcid.org/0000-0001-6908-9849 Severe deafness + ORCID:0000-0001-6908-9849 - A severe form of hearing impairment. - HPO:probinson + Severe hearing impairment - + + - Severe hearing loss - orcid.org/0000-0001-6908-9849 + A severe form of hearing impairment. + HPO:probinson - - + @@ -364101,18 +365570,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - A profound (essentially complete) form of hearing impairment. - HPO:probinson - - - Profound hearing impairment + + A profound (essentially complete) form of hearing impairment. + HPO:probinson + + + @@ -364209,7 +365678,7 @@ Additionally, the headaches cannot attributed to another disorder. Abnormal shape of the digestive system - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -364312,8 +365781,8 @@ Additionally, the headaches cannot attributed to another disorder.HP:0100637 - orcid.org/0000-0001-5889-4463 - Tumor of the nose + Nasal tumor + ORCID:0000-0001-5889-4463 @@ -364325,8 +365794,8 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5889-4463 - Nasal tumor + ORCID:0000-0001-5889-4463 + Tumor of the nose @@ -364428,6 +365897,7 @@ Additionally, the headaches cannot attributed to another disorder.UMLS:C0037188 human_phenotype peter + Fyler:7014 Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. @@ -364477,35 +365947,35 @@ Additionally, the headaches cannot attributed to another disorder.Puffiness of upper eyelid - Fullness of upper eyelid + ORCID:0000-0001-5889-4463 + Cellulitis of upper eyelid - - Swelling of upper eyelid + Fullness of upper eyelid - orcid.org/0000-0001-5889-4463 - Cellulitis of upper eyelid + Edema in the region of the upper eyelid. + HPO:probinson - + - orcid.org/0000-0001-5889-4463 - Puffiness of upper eyelid + Swelling of upper eyelid - Edema in the region of the upper eyelid. - HPO:probinson + Puffiness of upper eyelid + ORCID:0000-0001-5889-4463 - + + @@ -364547,18 +366017,18 @@ Additionally, the headaches cannot attributed to another disorder.Recurrent low potassium - An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. - HPO:probinson - - - - - orcid.org/0000-0001-6908-9849 Recurrent low potassium + ORCID:0000-0001-6908-9849 + + An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. + HPO:probinson + + + @@ -364650,25 +366120,25 @@ Additionally, the headaches cannot attributed to another disorder.Failure of development of tongue - Absence of the tongue owing to a developmental abnormality. - HPO:probinson - - - - + ORCID:0000-0001-5889-4463 Missing tongue - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Failure of development of tongue + ORCID:0000-0001-5889-4463 + + Absence of the tongue owing to a developmental abnormality. + HPO:probinson + + + @@ -364774,16 +366244,16 @@ Additionally, the headaches cannot attributed to another disorder.Ketotic low blood sugar - HPO:probinson - Low blood glucose is accompanied by elevated levels of ketone bodies in the body. + Ketotic low blood sugar + ORCID:0000-0001-6908-9849 - + - Ketotic low blood sugar - orcid.org/0000-0001-6908-9849 + HPO:probinson + Low blood glucose is accompanied by elevated levels of ketone bodies in the body. - + @@ -364807,6 +366277,12 @@ Additionally, the headaches cannot attributed to another disorder.peter The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). There is agreement that an actue cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. + + Coughing + + + + A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. HPO:probinson @@ -364820,12 +366296,6 @@ Additionally, the headaches cannot attributed to another disorder. - - Coughing - - - - @@ -364843,18 +366313,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - A profound delay in the achievement of motor or mental milestones in the domains of development of a child. - DDD:hvfirth - - - HPO:skoehler Psychomotor retardation, profound + + A profound delay in the achievement of motor or mental milestones in the domains of development of a child. + DDD:hvfirth + + + @@ -364923,56 +366393,56 @@ Additionally, the headaches cannot attributed to another disorder.Absence of canine - orcid.org/0000-0001-5889-4463 - Failure of development of eye tooth + Absence of eye tooth + ORCID:0000-0001-5889-4463 - + + + ORCID:0000-0001-5889-4463 Missing eye tooth - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of eye tooth + Absent canines + + + + + + ORCID:0000-0001-5889-4463 + Missing canine - Agenesis of canine tooth. - HPO:probinson + Failure of development of eye tooth + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Absence of canine - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of canine - Absent canines - - - - - - Missing canine - orcid.org/0000-0001-5889-4463 + Agenesis of canine tooth. + HPO:probinson - - + @@ -364999,7 +366469,7 @@ Additionally, the headaches cannot attributed to another disorder. Undeveloped small intestine - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -365092,6 +366562,12 @@ Additionally, the headaches cannot attributed to another disorder.peter HP:0040037 + + Thin fingernail + + + + HPO:probinson Nail that appears thin when viewed on end. @@ -365099,12 +366575,6 @@ Additionally, the headaches cannot attributed to another disorder. - - Thin fingernail - - - - @@ -365149,14 +366619,8 @@ Additionally, the headaches cannot attributed to another disorder.Central obesity - Abdominal obesity - - - - - - Central obesity HPO:skoehler + Central obesity @@ -365167,6 +366631,12 @@ Additionally, the headaches cannot attributed to another disorder. + + Abdominal obesity + + + + @@ -365208,7 +366678,7 @@ Additionally, the headaches cannot attributed to another disorder. Absent thighbone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -365266,22 +366736,22 @@ Additionally, the headaches cannot attributed to another disorder. - HPO:skoehler - Short palpebral fissures + Short opening between the eyelids + ORCID:0000-0001-5889-4463 + - Decreased height of palpebral fissure - orcid.org/0000-0001-5889-4463 + HPO:skoehler + Short palpebral fissures - Short opening between the eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Decreased height of palpebral fissure - @@ -365324,6 +366794,12 @@ Additionally, the headaches cannot attributed to another disorder.peter HP:0040038 + + Thin toenail + + + + HPO:probinson Toenail that appears thin when viewed on end. @@ -365338,12 +366814,6 @@ Additionally, the headaches cannot attributed to another disorder. - - Thin toenail - - - - @@ -365623,18 +367093,18 @@ Additionally, the headaches cannot attributed to another disorder.Abnormal neuronal morphology - A structural anomaly of a neuron. - KI:phemming - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal neuron shape + + A structural anomaly of a neuron. + KI:phemming + + + @@ -365732,8 +367202,8 @@ Additionally, the headaches cannot attributed to another disorder.Mastoid agenesis - Failure of development of mastoid - orcid.org/0000-0001-5889-4463 + Mastoid agenesis + ORCID:0000-0001-5889-4463 @@ -365744,8 +367214,8 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5889-4463 - Mastoid agenesis + ORCID:0000-0001-5889-4463 + Failure of development of mastoid @@ -366016,18 +367486,18 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype peter - - Increased arm span - - - - HPO:probinson Increased length of the arm span (length from one end of an individual's arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle. + + Increased arm span + + + + @@ -366297,18 +367767,18 @@ Additionally, the headaches cannot attributed to another disorder.Ear tumor - A tumor (abnormal growth of tissue) of the ear. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Ear tumor + ORCID:0000-0001-5208-3432 + + A tumor (abnormal growth of tissue) of the ear. + HPO:probinson + + + @@ -366471,8 +367941,8 @@ Additionally, the headaches cannot attributed to another disorder. + ORCID:0000-0001-5208-3432 Recurrent bladder infections - orcid.org/0000-0001-5208-3432 @@ -366517,8 +367987,8 @@ Additionally, the headaches cannot attributed to another disorder.Reticulate pigmentation of oral mucous membrane + ORCID:0000-0001-5889-4463 Reticulate pigmentation of oral mucous membrane - orcid.org/0000-0001-5889-4463 @@ -366529,7 +367999,7 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Mottled pigmentation of oral mucosa @@ -366573,26 +368043,26 @@ Additionally, the headaches cannot attributed to another disorder.Underdeveloped heel bone Small heel bone + + HPO:probinson + Underdevelopment of the heel bone. + + + Underdeveloped heel bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small heel bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - - HPO:probinson - Underdevelopment of the heel bone. - - - @@ -366669,8 +368139,8 @@ Additionally, the headaches cannot attributed to another disorder. + ORCID:0000-0001-5208-3432 Abnormal maturation of long bone in upper arm - http://orcid.org/0000-0001-5208-3432 @@ -366933,7 +368403,7 @@ Additionally, the headaches cannot attributed to another disorder. Lymphatic vessel tumor - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -366989,46 +368459,46 @@ Additionally, the headaches cannot attributed to another disorder.Unilateral facial paralysis - orcid.org/0000-0001-5889-4463 - Unilateral facial muscle paralysis + ORCID:0000-0001-5889-4463 + Weakness of one side of the face + - Unilateral facial muscle weakness - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Paralysis of one side of the face + - Unilateral facial weakness - orcid.org/0000-0001-5889-4463 + HPO:probinson + One-sided weakness of the muscles of facial expression and eye closure. - + - Paralysis of one side of the face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Unilateral facial paralysis - - HPO:probinson - One-sided weakness of the muscles of facial expression and eye closure. + Unilateral facial muscle weakness + ORCID:0000-0001-5889-4463 - + - Weakness of one side of the face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Unilateral facial muscle paralysis - - Unilateral facial paralysis - orcid.org/0000-0001-5889-4463 + Unilateral facial weakness + ORCID:0000-0001-5889-4463 @@ -367055,39 +368525,39 @@ Additionally, the headaches cannot attributed to another disorder.Extra fontanelle - Supernumary fontanelle - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Supernumary cranial suture - + Extra cranial suture - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Supernumary cranial suture - orcid.org/0000-0001-5889-4463 + A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. + HPO:probinson + pmid:20496093 - + - orcid.org/0000-0001-5889-4463 - Accessory fontanelle + ORCID:0000-0001-5889-4463 + Supernumary fontanelle - A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. - HPO:probinson - pmid:20496093 + ORCID:0000-0001-5889-4463 + Extra fontanelle - + - Extra fontanelle - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Accessory fontanelle @@ -367135,17 +368605,18 @@ Additionally, the headaches cannot attributed to another disorder.Thin lower jaw - Narrow jaw + ORCID:0000-0001-5889-4463 + Thin lower jaw - + - orcid.org/0000-0001-5889-4463 - Thin lower face + Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). + HPO:probinson + pmid:19125436 - - + Narrow lower jaw @@ -367154,24 +368625,23 @@ Additionally, the headaches cannot attributed to another disorder. - Narrow lower face + ORCID:0000-0001-5889-4463 + Thin lower face - + - orcid.org/0000-0001-5889-4463 - Thin lower jaw + Narrow lower face - + - Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). - HPO:probinson - pmid:19125436 + Narrow jaw - + + @@ -367221,10 +368691,11 @@ Additionally, the headaches cannot attributed to another disorder. - Broad lower face + Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). + HPO:probinson + pmid:19125436 - - + Wide jaw @@ -367233,11 +368704,10 @@ Additionally, the headaches cannot attributed to another disorder. - Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). - HPO:probinson - pmid:19125436 + Broad lower face - + + @@ -367352,16 +368822,16 @@ Additionally, the headaches cannot attributed to another disorder. - Insertion of the posterior columella superior to the nasal base. - pmid:19152422 + Ala lower than columella + ORCID:0000-0001-5889-4463 - + - Ala lower than columella - orcid.org/0000-0001-5889-4463 + Insertion of the posterior columella superior to the nasal base. + pmid:19152422 - + @@ -367387,64 +368857,64 @@ Additionally, the headaches cannot attributed to another disorder.Deformity of nasal base - orcid.org/0000-0001-5889-4463 - Abnormality of base of nose + Abnormal nasal base - orcid.org/0000-0001-5889-4463 - Anomaly of base of nose + ORCID:0000-0001-5889-4463 + Deformity of base of nose - + + - Abnormal nasal base + ORCID:0000-0001-5889-4463 + Deformity of nasal base - + - Deformity of nasal base - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Malformation of nasal base - An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. - HPO:probinson - pmid:19152422 + Abnormality of base of nose + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Deformity of base of nose + ORCID:0000-0001-5889-4463 + Malformation of base of nose - Anomaly of nasal base - orcid.org/0000-0001-5889-4463 + An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. + HPO:probinson + pmid:19152422 - + - orcid.org/0000-0001-5889-4463 - Malformation of nasal base + Anomaly of base of nose + ORCID:0000-0001-5889-4463 - - + - Malformation of base of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anomaly of nasal base - - + @@ -367469,29 +368939,28 @@ Additionally, the headaches cannot attributed to another disorder.Narrow base of nose - Thin base of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Narrow base of nose - orcid.org/0000-0001-5889-4463 - Decreased width of nasal base + Decreased width of base of nose + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 Thin nasal base + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased width of base of nose + Narrow nasal base @@ -367504,14 +368973,15 @@ Additionally, the headaches cannot attributed to another disorder. - Narrow base of nose - orcid.org/0000-0001-5889-4463 + Decreased width of nasal base + ORCID:0000-0001-5889-4463 - Narrow nasal base + Thin base of nose + ORCID:0000-0001-5889-4463 @@ -367538,12 +369008,6 @@ Additionally, the headaches cannot attributed to another disorder.Increased width of nasal base Broad base of nose - - Wide nasal base - - - - HPO:probinson Increased distance between the attachments of the alae nasi to the face. @@ -367552,35 +369016,41 @@ Additionally, the headaches cannot attributed to another disorder. - orcid.org/0000-0001-5889-4463 - Wide base of nose + Wide nasal base - Broad nasal base + ORCID:0000-0001-5889-4463 + Increased width of base of nose - orcid.org/0000-0001-5889-4463 - Increased width of base of nose + Broad nasal base + ORCID:0000-0001-5889-4463 Increased width of nasal base - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + Wide base of nose + ORCID:0000-0001-5889-4463 + + + + + Broad base of nose + ORCID:0000-0001-5889-4463 @@ -367612,66 +369082,66 @@ Additionally, the headaches cannot attributed to another disorder.Increased width of nasal ridge - orcid.org/0000-0001-5889-4463 - Wide dorsum of nose + Wide nasal ridge + - orcid.org/0000-0001-5889-4463 - Wide nasal dorsum + HPO:probinson + Increased width of the nasal ridge. + pmid:19152422 - + - orcid.org/0000-0001-5889-4463 - Increased width of nasal dorsum + ORCID:0000-0001-5889-4463 + Broad dorsum of nose Broad nasal dorsum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Wide nasal ridge + Increased width of dorsum of nose + ORCID:0000-0001-5889-4463 - - Broad nasal ridge + ORCID:0000-0001-5889-4463 + Increased width of nasal ridge - + - Broad dorsum of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Wide dorsum of nose - Increased width of nasal ridge - orcid.org/0000-0001-5889-4463 + Broad nasal ridge - + - orcid.org/0000-0001-5889-4463 - Increased width of dorsum of nose + Increased width of nasal dorsum + ORCID:0000-0001-5889-4463 - HPO:probinson - Increased width of the nasal ridge. - pmid:19152422 + Wide nasal dorsum + ORCID:0000-0001-5889-4463 - + @@ -367699,43 +369169,43 @@ Additionally, the headaches cannot attributed to another disorder.Fullness of tissue around the nose - orcid.org/0000-0001-5889-4463 - Hypertrophy of paranasal tissue + HPO:probinson + Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. + pmid:19152422 - + - Thick tissue around the nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Fullness of tissue around the nose - orcid.org/0000-0001-5889-4463 - Fullness of tissue around the nose + Hyperplasia of paranasal tissue + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 - Thick paranasal tissue + ORCID:0000-0001-5889-4463 + Thick tissue around the nose + - orcid.org/0000-0001-5889-4463 - Hyperplasia of paranasal tissue + Hypertrophy of paranasal tissue + ORCID:0000-0001-5889-4463 - HPO:probinson - Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. - pmid:19152422 + Thick paranasal tissue + ORCID:0000-0001-5889-4463 - + @@ -367753,19 +369223,19 @@ Additionally, the headaches cannot attributed to another disorder.human_phenotype One underdeveloped breast - - http://orcid.org/0000-0001-6908-9849 - One underdeveloped breast - - - - HPO:probinson Underdevelopment of the breast on one side only. + + One underdeveloped breast + ORCID:0000-0001-6908-9849 + + + + @@ -367813,8 +369283,8 @@ Additionally, the headaches cannot attributed to another disorder. + ORCID:0000-0001-6908-9849 Two underdeveloped breasts - http://orcid.org/0000-0001-6908-9849 @@ -367857,8 +369327,8 @@ Additionally, the headaches cannot attributed to another disorder.Underdeveloped female external genitalia + ORCID:0000-0001-6908-9849 Underdeveloped female external genitalia - http://orcid.org/0000-0001-6908-9849 @@ -368151,18 +369621,18 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have human_phenotype peter - - Mild - - - - HPO:probinson Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. + + Mild + + + + @@ -368485,15 +369955,15 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have - Localized + Localised - + - Localised + Localized - + @@ -368514,18 +369984,18 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Outermost - HPO:probinson - Localized away from the central point of the body. - - - - + ORCID:0000-0001-6908-9849 Outermost - http://orcid.org/0000-0001-6908-9849 + + HPO:probinson + Localized away from the central point of the body. + + + @@ -368786,18 +370256,18 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Narrowing of small intestine - HPO:probinson - The narrowing or partial blockage of a portion of the small intestine. - - - - + ORCID:0000-0001-5208-3432 Narrowing of small intestine - http://orcid.org/0000-0001-5208-3432 + + HPO:probinson + The narrowing or partial blockage of a portion of the small intestine. + + + @@ -368847,18 +370317,18 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have hecht human_phenotype - - Small intestinal bleeding - - - - Bleeding from the small intestine. HPO:probinson + + Small intestinal bleeding + + + + @@ -368921,19 +370391,19 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have human_phenotype Narrowing of the colon - - Narrowing of the colon - orcid.org/0000-0001-5208-3432 - - - - A narrowing of a segment of colon whereby bowel continuity is maintained. HPO:probinson + + ORCID:0000-0001-5208-3432 + Narrowing of the colon + + + + @@ -369020,8 +370490,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Increased pigmentation in scrotum + ORCID:0000-0001-5208-3432 Increased pigmentation in scrotum - orcid.org/0000-0001-5208-3432 @@ -369202,18 +370672,18 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Abnormally shaped of reproductive cell - Any structural anomaly of a reproductive cell. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Abnormally shaped of reproductive cell - orcid.org/0000-0001-5208-3432 + + Any structural anomaly of a reproductive cell. + HPO:probinson + + + @@ -369302,8 +370772,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have + ORCID:0000-0001-5208-3432 Abnormal shape of sperm - orcid.org/0000-0001-5208-3432 @@ -369439,6 +370909,12 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have hecht human_phenotype + + Vanishing testis + + + + A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. HPO:probinson @@ -369446,12 +370922,6 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have - - Vanishing testis - - - - @@ -369528,14 +370998,14 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have - http://orcid.org/0000-0001-6908-9849 - Absent ductus deferens + Absent deferent duct + ORCID:0000-0001-6908-9849 - Absent deferent duct - http://orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Absent ductus deferens @@ -369814,8 +371284,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Abnormality of vaginal lips - orcid.org/0000-0001-5208-3432 Abnormality of vaginal lips + ORCID:0000-0001-5208-3432 @@ -369864,19 +371334,19 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have human_phenotype Enlarged vaginal lips - - orcid.org/0000-0001-5208-3432 - Enlarged vaginal lips - - - - HPO:probinson Overgrowth of the outer labia. + + Enlarged vaginal lips + ORCID:0000-0001-5208-3432 + + + + @@ -369917,13 +371387,6 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have human_phenotype Twisted fallopian tube - - orcid.org/0000-0001-5208-3432 - Twisted fallopian tube - - - - A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. HPO:probinson @@ -369931,6 +371394,13 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have + + ORCID:0000-0001-5208-3432 + Twisted fallopian tube + + + + @@ -370127,19 +371597,19 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have peter High hairline at back of head - - High hairline at back of head - orcid.org/0000-0001-5889-4463 - - - - Hair on the neck extends less inferiorly than usual. UToronto:htrang + + ORCID:0000-0001-5889-4463 + High hairline at back of head + + + + @@ -370181,27 +371651,27 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Increased size of facial muscles - Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). - UToronto:htrang + ORCID:0000-0001-5889-4463 + Increased size of facial muscles - + + - orcid.org/0000-0001-5889-4463 Hyperplasia of facial muscles + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased size of facial muscles + Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). + UToronto:htrang - - + - orcid.org/0000-0001-5889-4463 Large facial muscles + ORCID:0000-0001-5889-4463 @@ -370249,44 +371719,44 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Increased size of neck muscles - orcid.org/0000-0001-5889-4463 - Overgrowth of neck muscles + ORCID:0000-0001-5889-4463 + Hypertrophy of cervical muscles - - Increased size of neck muscles - orcid.org/0000-0001-5889-4463 + Large neck muscles + ORCID:0000-0001-5889-4463 - + - Hypertrophy of cervical muscles - orcid.org/0000-0001-5889-4463 + Overgrowth of neck muscles + ORCID:0000-0001-5889-4463 + Hyperplasia of neck muscles - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Large neck muscles - - - - Muscle hypertrophy affecting the muscles of the neck. UToronto:htrang + + ORCID:0000-0001-5889-4463 + Increased size of neck muscles + + + + @@ -370563,6 +372033,12 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have peter Kabuki syndrome eyelids + + Kabuki syndrome eyelids + ORCID:0000-0001-5889-4463 + + + Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. HPO:probinson @@ -370572,12 +372048,6 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have - - orcid.org/0000-0001-5889-4463 - Kabuki syndrome eyelids - - - @@ -370660,8 +372130,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have HPO:mtaboada - PMID:20301629 A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. + PMID:20301629 @@ -370678,9 +372148,9 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. - A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. HPO:mtaboada PMID:27821973 + A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. @@ -370698,8 +372168,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have The basilar artery arises from the confluence of the two vertebral arteries. - Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. PMID:24765483 + Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. @@ -370716,9 +372186,9 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. - A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. - UManchester:psergouniotis PMID:23479532 + A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. + ORCID:0000-0003-0986-4123 @@ -370735,7 +372205,7 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. @@ -370753,8 +372223,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. - UManchester:psergouniotis A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. + ORCID:0000-0003-0986-4123 @@ -370780,10 +372250,11 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have 2017-12-20T17:20:06Z robinp A manifest or latent ocular deviation in which one or other eye tends to deviate nasally. + Convergent strabismus + ORCID:0000-0003-0986-4123 A manifest or latent ocular deviation in which one or other eye tends to deviate nasally. - UManchester:psergouniotis @@ -370801,7 +372272,7 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. @@ -370861,10 +372332,11 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have 2017-12-22T15:01:01Z robinp A manifest or latent ocular deviation in which one or other eye tends to deviate temporally. + Divergent strabismus - UManchester:psergouniotis A manifest or latent ocular deviation in which one or other eye tends to deviate temporally. + ORCID:0000-0003-0986-4123 @@ -370889,8 +372361,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have - PMID:23509356 The presence of autoantibodies in the serum that react against granocyte-macrophage colony stimulating factor. + PMID:23509356 @@ -370939,8 +372411,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Osteoarthritis of the metatarsophalangeal joint of the first toe. - HPO:probinson - PMID:24649409 + PMID:24649409 + HPO:probinson @@ -370957,9 +372429,9 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. - HPO:probinson Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. - PMID:6879730 + PMID:6879730 + HPO:probinson @@ -371002,7 +372474,7 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. - UToronto:chum + UToronto:chum @@ -371054,8 +372526,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. - HPO:probinson Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. + HPO:probinson @@ -371111,8 +372583,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. - PMID:20847697 Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. + PMID:20847697 @@ -371238,8 +372710,8 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Sudden breakage of an artery leading to leakage of blood from the circulation. - HPO:probinson Sudden breakage of an artery leading to leakage of blood from the circulation. + HPO:probinson @@ -371258,7 +372730,7 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have An increased concentration of prostate specific antigen (PSA) in the circulation. - PMID:26366236 + PMID:26366236 @@ -371301,18 +372773,18 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have Low ESR A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. - - PMID:10524488 - A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. - - - Low ESR + + PMID:10524488 + A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. + + + @@ -371345,16 +372817,12 @@ However, with the advent of genetic analysis, adenovirus and parvovirus B19 have 2016-08-26T11:13:58Z HPO:probinson Atresia of the rectum - A developmental defect resulting in complete obliteration of the lumen of the rectum. -That is, there is an abnormal closure, or atresia of the tubular structure of the -rectum. + A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. - HPO:probinson - PMID:20006038 - A developmental defect resulting in complete obliteration of the lumen of the rectum. -That is, there is an abnormal closure, or atresia of the tubular structure of the -rectum. + PMID:20006038 + HPO:probinson + A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. @@ -371372,9 +372840,9 @@ rectum. An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or mulscular abnormalities, which remains after disimpaction of the rectum. - HPO:probinson + PMID:10869000 + HPO:probinson An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or mulscular abnormalities, which remains after disimpaction of the rectum. - PMID:10869000 @@ -371393,7 +372861,7 @@ rectum. A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. - HPO:probinson + HPO:probinson A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. @@ -371411,7 +372879,7 @@ rectum. Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. - PMID:20223314 + PMID:20223314 Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. @@ -371432,10 +372900,10 @@ rectum. Miliary osteoma - PMID:26273166 - PMID:21152797 - HPO:probinson The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. + PMID:21152797 + HPO:probinson + PMID:26273166 @@ -371710,8 +373178,8 @@ rectum. A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. - A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. PMID:11598263 + A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. @@ -372086,8 +373554,8 @@ rectum. Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes. - A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. PMID:21319348 + A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. @@ -372132,8 +373600,8 @@ rectum. The practice of eating earth or soil-like substrates such as clay or chalk. - PMID:23816735 The practice of eating earth or soil-like substrates such as clay or chalk. + PMID:23816735 @@ -372202,8 +373670,8 @@ rectum. Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. + ORCID:0000-0003-0986-4123 Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. - UManchester:psergouniotis @@ -372344,8 +373812,8 @@ rectum. The QRS complexes of the electrocardiogram alternate in height. - PMID:8222799 The QRS complexes of the electrocardiogram alternate in height. + PMID:8222799 @@ -372388,8 +373856,8 @@ rectum. A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. - PMID:24701633 A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. + PMID:24701633 @@ -372407,9 +373875,9 @@ rectum. Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362]. + PMID:12082143 + PMID:21738362 Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. - PMID:21738362 - PMID:12082143 @@ -372427,8 +373895,8 @@ rectum. Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disordersmay show a reduced content of desmosine. - An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. PMID:2307214 + An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. @@ -372464,34 +373932,34 @@ rectum. Bloody diarrhoea - Blood in stool + Bloody diarrhea - + - Bloody stool + Bloody diarrhoea - + - Bloody diarrhea + Bloody bowel movement - Bloody diarrhoea + Bloody stool - + - Bloody bowel movement + Blood in stool - + @@ -372534,9 +374002,9 @@ rectum. PMID:25473242 - Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. - PMID:28207011 PMID:24882996 + PMID:28207011 + Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. @@ -372632,8 +374100,8 @@ rectum. Unprovoked explosive pathological sneezing. - Unprovoked explosive pathological sneezing. PMID:17388999 + Unprovoked explosive pathological sneezing. @@ -372853,9 +374321,9 @@ rectum. A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). - PMID:25864701 A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). PMID:22483320 + PMID:25864701 @@ -372873,9 +374341,9 @@ rectum. A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots/ - PMID:22483320 PMID:25864701 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots/ + PMID:22483320 @@ -372892,9 +374360,9 @@ rectum. A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. - PMID:25864701 - PMID:22483320 A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. + PMID:22483320 + PMID:25864701 @@ -372911,8 +374379,8 @@ rectum. A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. - A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. PMID:25864701 + A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. PMID:22483320 @@ -372932,8 +374400,8 @@ rectum. assumed. - PMID:25864701 Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. + PMID:25864701 @@ -373089,8 +374557,8 @@ assumed. This feature may be seen rarely as a paraneoplastic manifestation. - An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. PMID:24346922 + An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. @@ -373108,8 +374576,8 @@ assumed. A type of focal seizure (i.e., affecting initially only one hemisphere of the brain) that is simple (not resulting in alteration of consciousness) that originates in the occipital lobe. Visual hallucinations are the hallmark of occipital seizures, but are not invariably present. Hallucinations typically commence in the visual field contralateral to the affected visual cortex and then spread to involve the entire visual field. Elementary visual seizures are characterized by fleeting visual manifestations which may be either positive (flashes, phosphenes) or, less commonly, negative (scotoma, hemianopia, amaurosis). Positive phenomena are usually flashes of colour or light, which are simple in shape and may be static or mobile. - PMID:12615636 A type of focal seizure (i.e., affecting initially only one hemisphere of the brain) that is simple (not resulting in alteration of consciousness) that originates in the occipital lobe. Visual hallucinations are the hallmark of occipital seizures, but are not invariably present. Hallucinations typically commence in the visual field contralateral to the affected visual cortex and then spread to involve the entire visual field. Elementary visual seizures are characterized by fleeting visual manifestations which may be either positive (flashes, phosphenes) or, less commonly, negative (scotoma, hemianopia, amaurosis). Positive phenomena are usually flashes of colour or light, which are simple in shape and may be static or mobile. + PMID:12615636 @@ -373127,8 +374595,8 @@ assumed. A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. - A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. PMID:19061615 + A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. @@ -373255,21 +374723,21 @@ assumed. - - PMID:16269085 - PMID:9715244 - PMID:19946526 - PMID:24758199 - Enlargement of the soft tissues of one or more fingers. - - - Swelling of fingers + + PMID:24758199 + PMID:19946526 + Enlargement of the soft tissues of one or more fingers. + PMID:9715244 + PMID:16269085 + + + @@ -373464,8 +374932,8 @@ assumed. Gingival calcifications - Ectopic deposition of calcium salts found in the gingiva. PMID:25928877 + Ectopic deposition of calcium salts found in the gingiva. @@ -373518,13 +374986,13 @@ assumed. Involuntary contraction or twitching of the muscles. - Shuddering + Shivering - Shivering + Shuddering @@ -373627,8 +375095,8 @@ assumed. Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. - PMID:18329691 Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. + PMID:18329691 @@ -373855,8 +375323,8 @@ assumed. An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. - An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. PMID:25072684 + An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. @@ -373873,8 +375341,8 @@ assumed. Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). - Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). PMID:25072684 + Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). @@ -373916,9 +375384,9 @@ assumed. Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging. + PMID:14594874 PMID:12527689 Abnormal function of the left ventricule during left ventricular relaxation and filling. - PMID:14594874 @@ -374070,8 +375538,8 @@ assumed. Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease. - PMID:23247773 A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings. + PMID:23247773 @@ -374102,8 +375570,8 @@ assumed. An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. - An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. PMID:22526827 + An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. @@ -374135,9 +375603,9 @@ assumed. Trigemino-oculomotor synkinesis + Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. PMID:25754805 PMID:23345532 - Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. @@ -374248,8 +375716,8 @@ assumed. Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states. - An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. PMID:3542299 + An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. @@ -374269,9 +375737,9 @@ assumed. Infantile digital fibromatosis - NCIT:C3456 - A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. PMID:27684985 + A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. + NCIT:C3456 @@ -374339,8 +375807,8 @@ assumed. Palm tree sign - PMID:26112857 Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. + PMID:26112857 @@ -374636,8 +376104,8 @@ assumed. - Applies to a sign or symptom that is provoked or brought about by a vaccination. PMID:26633955 + Applies to a sign or symptom that is provoked or brought about by a vaccination. @@ -374656,13 +376124,13 @@ assumed. Triggered by monthly period - Triggered by period + Triggered by monthly period - Triggered by monthly period + Triggered by period @@ -374727,13 +376195,13 @@ assumed. - Triggered by tobacco use + Triggered by smoking - Triggered by smoking + Triggered by tobacco use @@ -374938,8 +376406,8 @@ event. NREM parasomnia - A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during during slow-wave sleep (ie, NREM stage 3 sleep). PMID:27647645 + A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during during slow-wave sleep (ie, NREM stage 3 sleep). @@ -374964,7 +376432,7 @@ event. - orcid.org/0000-0002-0736-9199 + ORCID:0000-0002-0736-9199 Sleep walking @@ -375022,8 +376490,8 @@ event. Subhyaloid heme - PMID:27090882 A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. + PMID:27090882 @@ -375034,11 +376502,11 @@ event. Preretinal hemorrhage - + 2016-12-17T00:54:15Z HPO:probinson + An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. Preretinal haemorrhage - An accumulation of blood located posterior to the internal limiting membrane (ILM) and anterior to the nerve fiber layer (NFL) of the retina. Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. Preretinal heme @@ -375048,6 +376516,12 @@ event. + + UManchester:psergouniotis + An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. + + + @@ -375212,7 +376686,7 @@ brownish tinge. Whitehead - orcid.org/0000-0002-0736-9199 + ORCID:0000-0002-0736-9199 @@ -375232,7 +376706,7 @@ brownish tinge. Blackhead - orcid.org/0000-0002-0736-9199 + ORCID:0000-0002-0736-9199 @@ -375327,13 +376801,13 @@ brownish tinge. A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. - Neck stiffness + Stiff neck - Stiff neck + Neck stiffness @@ -375405,13 +376879,13 @@ brownish tinge. A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity. - Stiff finger + Finger stiffness - Finger stiffness + Stiff finger @@ -375431,13 +376905,13 @@ brownish tinge. Hip stiffness - Hip stiffness + Stiff hip - Stiff hip + Hip stiffness @@ -375457,13 +376931,13 @@ brownish tinge. Knee stiffness - Knee stiffness + Stiff knee - Stiff knee + Knee stiffness @@ -375509,13 +376983,13 @@ brownish tinge. A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity. - Toe stiffness + Stiff toe - Stiff toe + Toe stiffness @@ -375569,7 +377043,7 @@ brownish tinge. - orcid.org/0000-0002-0736-9199 + ORCID:0000-0002-0736-9199 Stammering @@ -376015,14 +377489,12 @@ brownish tinge. Episodic - + 2016-12-21T00:51:43Z HPO:probinson - Intermittant - Recurrent Now and then In our definition, episodic is synonymous with internittent and recurrent. The term does not imply any particular temporal pattern of the recurrence. - Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. + Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. Now and then @@ -376037,10 +377509,10 @@ brownish tinge. Periodic - + 2016-12-21T00:55:09Z HPO:probinson - Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval, i.e., the symptom-free periods are always of the same length. + Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length. @@ -376104,7 +377576,7 @@ brownish tinge. Irregular pupil - orcid.org/0000-0002-0736-9199 + ORCID:0000-0002-0736-9199 Irregular pupil @@ -376224,8 +377696,8 @@ brownish tinge. Neovascularization of the iris - Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. PMID:27895936 + Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. @@ -376532,8 +378004,8 @@ brownish tinge. A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. - PMID:23321410 A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. + PMID:23321410 @@ -376550,8 +378022,8 @@ brownish tinge. A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. - PMID:23321410 A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. + PMID:23321410 @@ -376682,8 +378154,8 @@ brownish tinge. In primary biliary cirrhosis, interlobular bile duct destruction is immune mediated. - Damage to and and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). PMID:16177252 + Damage to and and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). @@ -376704,19 +378176,13 @@ brownish tinge. A deviation from the normal concentration of beta-2-microglobulin in the blood. - Abnormality of circulating beta2-m level + Abnormality of circulating B2M level - A deviation from the normal concentration of beta-2-microglobulin in the blood. - PMID:16166103 - - - - - Abnormality of circulating B2M level + Abnormality of circulating beta2-m level @@ -376727,6 +378193,12 @@ brownish tinge. + + A deviation from the normal concentration of beta-2-microglobulin in the blood. + PMID:16166103 + + + @@ -376790,8 +378262,8 @@ brownish tinge. Conjunctival papillae with a diameter Giant papillae greater than 1 millimeter. - Conjunctival papillae with a diameter Giant papillae greater than 1 millimeter. PMID:26278858 + Conjunctival papillae with a diameter Giant papillae greater than 1 millimeter. @@ -376834,18 +378306,18 @@ brownish tinge. Sp100 is the main antigenic target of MND reactivity. Anti-MND activity can be seen in primary biliary cirrhosis and in other conditions. Anti-MND antibodies - - PMID:11882049 - A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. - - - Anti-MND antibodies + + PMID:11882049 + A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. + + + @@ -376884,8 +378356,8 @@ brownish tinge. A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. + PMID:21044654 A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. - PMID:21044654 @@ -376943,8 +378415,8 @@ brownish tinge. Increased number of calices of the kidney. - PMID:19002724 Increased number of calices of the kidney. + PMID:19002724 @@ -376974,8 +378446,8 @@ brownish tinge. Hypoplasia of the medullary pyramids - PMID:16293636 Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. + PMID:16293636 @@ -376993,8 +378465,8 @@ brownish tinge. The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium. - Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. PMID:19571790 + Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. @@ -377106,8 +378578,8 @@ brownish tinge. Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. - PMID:25012363 PMID:15961864 + PMID:25012363 Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. @@ -377181,8 +378653,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An increased concentration of glutamine in the urine. - PMID:11283793 An increased concentration of glutamine in the urine. + PMID:11283793 @@ -377240,8 +378712,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].The presence of autoantibodies (immunoglobulins) in the serum that react against pituitary tissue. - PMID:17341554 Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. + PMID:17341554 @@ -377276,18 +378748,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Buffalo hump An area of fat accumulation at the backof the next in the form of a hump. - - An area of fat accumulation at the backof the next in the form of a hump. - PMID:22301856 - - - Buffalo hump + + PMID:22301856 + An area of fat accumulation at the backof the next in the form of a hump. + + + @@ -377372,8 +378844,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. - High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. PMID:23247773 + High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. @@ -377391,8 +378863,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. - PMID:23247773 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. + PMID:23247773 @@ -377409,8 +378881,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. - The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. PMID:23247773 + The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. @@ -377463,8 +378935,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. - On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. PMID:23247773 + On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. @@ -377481,8 +378953,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, - PMID:23247773 Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, + PMID:23247773 @@ -377500,8 +378972,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. - PMID:23247773 Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. + PMID:23247773 @@ -377556,8 +379028,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. - PMID:23247773 A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. + PMID:23247773 @@ -377780,8 +379252,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].The fossa navicularis is the small normal dilatation of the distal penile urethra. - A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. PMID:22022062 + A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. @@ -377887,16 +379359,16 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. - Diffuse alveolar haemorrhage + A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. + PMID:23678356 - - + - PMID:23678356 - A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. + Diffuse alveolar haemorrhage - + + @@ -377912,8 +379384,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].The presence of free air in the mediastinum. - The presence of free air in the mediastinum. PMID:28217437 + The presence of free air in the mediastinum. @@ -377931,8 +379403,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. + PMID:18493546 A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. - PMID:18493546 PMID:12162234 @@ -378040,9 +379512,11 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - + 2017-04-23T12:50:43Z HPO:probinson + HP:0002109 + Abnormality of the bronchi Any anomaly of the function of the bronchi. @@ -378072,7 +379546,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - + 2017-04-23T12:51:32Z HPO:probinson Any anomaly of the function of the bronchi. @@ -378265,8 +379739,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Swollen throat - http://www.livestrong.com/article/153098-a-sore-and-swollen-throat/ Swollen throat + http://www.livestrong.com/article/153098-a-sore-and-swollen-throat/ @@ -378362,8 +379836,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole. - PMID:9034636 Any structural anomaly of the papillary muscles of the left ventricle. + PMID:9034636 @@ -378381,8 +379855,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].This malformation consists of a direct continuity between a hypertrophied papillary muscle and the anterior mitral leaflet (Normally, the papillary muscle is connected to the leaflet via the chordae tendinae). Themalformation can be identified echocardiographically. It results in a long rigid area of mid-cavity narrowing that in turn can cause left ventricular outflow tract obstruction. - PMID:1884449 A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. + PMID:1884449 @@ -378413,8 +379887,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Possible mechanisms for systolic anterior motion with anterior displacement of the papillary muscles (PM): (1) the normal posterior component of PM tension is reduced by anterior displacement of the muscle tips; (2) interposing the leaflets into the streamlines of flow causes drag forces with an anterior component; and (3) pulling up the posterior leaflet so that it meets the anterior leaflet closer to its base creates a long, overlapping residual leaflet, as seen clinically. This leaflet portion is relatively free to move anteriorly, unlike the coapted leaflet bodies that are restrained by the balance of ventricular and atrial pressures acting across them. The angle between the posterior leaflet and posterior wall is increased [PMID:7850958]. - PMID:7850958 Abnormally anterior location of the papillary muscles of the left ventricle. + PMID:7850958 @@ -378444,8 +379918,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Testicular adrenal rest tumor (TART) isa abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. - Testicular adrenal rest tumor (TART) isa abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. pmid:19956703 + Testicular adrenal rest tumor (TART) isa abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. @@ -378513,13 +379987,6 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. Decreased CSF 5-HIAA - - CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. - ORCID:0000-0003-0169-8159 - PMID:27388694 - - - Decreased CSF 5-HIAA @@ -378532,6 +379999,13 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. + + PMID:27388694 + CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. + ORCID:0000-0003-0169-8159 + + + @@ -378556,13 +380030,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].HPO:probinson Low CSF total protein CSF total protein level is below the lower limit of normal. + Decreased cerebrospinal fluid total protein - - Low CSF total protein - - - - PMID:27388694 CSF total protein level is below the lower limit of normal. @@ -378570,6 +380039,12 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. + + Low CSF total protein + + + + @@ -378586,7 +380061,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. Low CSF albumin - + @@ -378624,8 +380099,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. ORCID:0000-0003-0169-8159 - An elveated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). PMID:20951217 + An elveated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). @@ -378915,8 +380390,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate dischanrge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. - An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate dischanrge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. PMID:25394566 + An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate dischanrge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. @@ -379019,8 +380494,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A congenital anomaly characterized by the presence of two bladders. - PMID:25657554 A congenital anomaly characterized by the presence of two bladders. + PMID:25657554 @@ -379070,8 +380545,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. - A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. PMID:25772937 + A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. @@ -379119,8 +380594,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Underdevelopment of a large segment of the thoracic and the abdominal aorta. - PMID:24516866 Underdevelopment of a large segment of the thoracic and the abdominal aorta. + PMID:24516866 @@ -379240,9 +380715,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Origin of the right coronary artery (RCA) from the left sinus of Valsalva orof the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. - Origin of the right coronary artery (RCA) from the left sinus of Valsalva orof the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. PMID:28374180 PMID:27358682 + Origin of the right coronary artery (RCA) from the left sinus of Valsalva orof the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. @@ -379259,8 +380734,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].The circumflex coronary artery originates from the right aortic sinus of Valsalva. - The circumflex coronary artery originates from the right aortic sinus of Valsalva. PMID:25104986 + The circumflex coronary artery originates from the right aortic sinus of Valsalva. @@ -379279,8 +380754,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Further synonyms include Anomalous origin of the coronary artery from the opposite sinus of Valsalva with an interarterial course and Anomalous origin of the coronary artery from the wrong sinus of Valsalva with a proximal course between the aorta and pulmonary artery - PMID:24424336 Origin of the right coronary artery (RCA) from the left sinus of Valsalva orof the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, + PMID:24424336 @@ -379312,8 +380787,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Gottron papules - Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. PMID:28058540 + Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. @@ -379569,8 +381044,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. - A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. PMID:23304176 + A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. @@ -379679,8 +381154,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn. - PMID:21575077 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on eachhalf of the body. + PMID:21575077 @@ -379888,15 +381363,15 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Decreased mean corpuscular haemoglobin - Decreased MCH + Decreased mean corpuscular haemoglobin - + - Decreased mean corpuscular haemoglobin + Decreased MCH - + @@ -379941,7 +381416,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -379952,10 +381427,41 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. Elevated circulating ribitol concentration + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2017-07-09T13:01:59Z HPO:probinson An increase above the normal concentration of ribitol in the blood. + Increased level of ribitol in serum @@ -380003,8 +381509,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - Subcutaneous bleeding with a diamter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. PMID:20411091 + Subcutaneous bleeding with a diamter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. @@ -380051,7 +381557,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. @@ -380069,7 +381575,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. @@ -380088,7 +381594,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 PMID:16196117 @@ -380106,8 +381612,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. - Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. PMID:16196117 + Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. @@ -380160,8 +381666,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. - Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. PMID:16196117 + Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. @@ -380190,8 +381696,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. - PMID:16196117 Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. + PMID:16196117 @@ -380276,8 +381782,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. - PMID:27190856 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. + PMID:27190856 @@ -380315,7 +381821,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A mild form of myopia with up to -3.00 diopters. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A mild form of myopia with up to -3.00 diopters. @@ -380370,11 +381876,12 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. 2017-12-15T23:00:56Z HPO:probinson + Fyler:2820 Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. - MP:0006064 Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. + MP:0006064 @@ -380409,10 +381916,11 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].2017-12-15T23:02:17Z HPO:probinson Any structural anomaly of the principal vein draining blood from the lower portion of the body. + Fyler:2810 - Any structural anomaly of the principal vein draining blood from the lower portion of the body. MP:0006063 + Any structural anomaly of the principal vein draining blood from the lower portion of the body. @@ -380427,10 +381935,11 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].2017-12-15T23:47:17Z HPO:probinson Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. + Fyler:1452 - PMID:4015927 Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. + PMID:4015927 @@ -380465,6 +381974,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].2017-12-15T23:54:09Z HPO:probinson Any structural abnormality of the left atrium. + Fyler:3010 @@ -380497,6 +382007,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].2017-12-15T23:56:01Z HPO:probinson Any structural abnormality of the right atrium. + Fyler:1770 @@ -380519,7 +382030,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. Bleeding occuring within the fovea. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -380536,6 +382047,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].HPO:probinson Submacular haemorrhage Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. + Sub-macular hemorrhage Submacular haemorrhage @@ -380544,7 +382056,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. @@ -380575,7 +382087,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. @@ -380593,8 +382105,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Tendency for the visual ais of one eye to be higher than that of the other. + ORCID:0000-0003-0986-4123 Tendency for the visual ais of one eye to be higher than that of the other. - UManchester:psergouniotis @@ -380611,7 +382123,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. @@ -380630,8 +382142,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions. - UManchester:psergouniotis A type of strabismus in which the visual axis of one eye is higher than that of the other. + ORCID:0000-0003-0986-4123 @@ -380650,7 +382162,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. A type of strabismus in which the visual axis of one eye is higher than that of the other. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -380668,7 +382180,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. PMID:15731772 @@ -380700,8 +382212,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. - UManchester:psergouniotis A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. + ORCID:0000-0003-0986-4123 @@ -380728,11 +382240,11 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. 2018-01-13T20:38:29Z HPO:probinson - Mechanical limitation of the range of movement of the superior oblique muscle. In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. + Mechanical limitation of the range of movement of the superior oblique muscle. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Mechanical limitation of the range of movement of the superior oblique muscle. @@ -380750,9 +382262,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. - PMID:11545636 An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 + PMID:11545636 @@ -380770,7 +382282,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Under-depression in adduction - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. @@ -380789,8 +382301,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. + ORCID:0000-0003-0986-4123 A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. - UManchester:psergouniotis @@ -380808,7 +382320,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Mechanical limitation of the range of movement of the inferior oblique muscle. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Mechanical limitation of the range of movement of the inferior oblique muscle. @@ -380827,7 +382339,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Decreased strength of the inferior oblique muscle. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Decreased strength of the inferior oblique muscle. @@ -380847,7 +382359,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. PMID:11545636 A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -380864,8 +382376,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. + ORCID:0000-0003-0986-4123 A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. - UManchester:psergouniotis @@ -380882,7 +382394,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Decreased strength of the inferior rectus muscle. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Decreased strength of the inferior rectus muscle. @@ -380902,7 +382414,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. Mechanical limitation of the range of movement of the inferior rectus muscle. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -380919,8 +382431,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. + ORCID:0000-0003-0986-4123 A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. - UManchester:psergouniotis @@ -380942,11 +382454,21 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - Lid lag - + Lid lag on downgaze + 2018-01-13T22:37:21Z HPO:probinson + Lid lag + Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. + Eyelid lag + von Graefe sign + + ORCID:0000-0003-0986-4123 + Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. + + + @@ -380960,8 +382482,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. - UManchester:psergouniotis A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. + ORCID:0000-0003-0986-4123 @@ -380978,8 +382500,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An inward turning (inversion) of the margin of the upper eyelid. - UManchester:psergouniotis An inward turning (inversion) of the margin of the upper eyelid. + ORCID:0000-0003-0986-4123 @@ -380997,7 +382519,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. @@ -381015,7 +382537,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. @@ -381035,8 +382557,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Meibomian gland dysfunction + ORCID:0000-0003-0986-4123 A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. - UManchester:psergouniotis @@ -381053,7 +382575,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). @@ -381071,8 +382593,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. - UManchester:psergouniotis A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. + ORCID:0000-0003-0986-4123 @@ -381088,8 +382610,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. - Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. UToronto:HTrang + Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. @@ -381130,14 +382652,14 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Eyelids stay open + ORCID:0000-0001-5889-4463 Eyelids stay open - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Inability to close the eyelids @@ -381160,15 +382682,15 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Inability to close the eyelids at night - Eyelids stay open at night - orcid.org/0000-0001-5889-4463 + Inability to close the eyelids at night + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Inability to close the eyelids at night + Eyelids stay open at night + ORCID:0000-0001-5889-4463 @@ -381202,15 +382724,15 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Inability to close the eyelids due to scarring + ORCID:0000-0001-5889-4463 Inability to close the eyelids due to scarring - orcid.org/0000-0001-5889-4463 Eyelids stay open due to scarring - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -381303,8 +382825,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Aplasia of the cervix - orcid.org/0000-0001-5208-3432 Absent cervix + ORCID:0000-0001-5208-3432 @@ -381389,16 +382911,16 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Abnormal female genital system physiology - Abnormal female genital system physiology + Abnormal female reproductive system physiology - + - Abnormal female reproductive system physiology + Abnormal female genital system physiology - + @@ -381480,11 +383002,11 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Decreased female libido UMLS:C4022676 - Decreased female sex drive Dminished sexual desire in female. + Decreased female sex drive - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Decreased female sex drive @@ -381503,8 +383025,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Increased female sex drive + ORCID:0000-0001-5208-3432 Increased female sex drive - orcid.org/0000-0001-5208-3432 @@ -381522,8 +383044,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].The tag can be located on either side of the pinna. - pmid:19152421 eom:1b6d89bad30b8f18 + pmid:19152421 Small protrusion within the pinna. @@ -381544,13 +383066,6 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Constricted ear Cleft between the helix and the lobe. - - eom:cffbc3de49dbb172 - pmid:19152421 - Cleft between the helix and the lobe. - - - Question mark ears HPO:skoehler @@ -381564,6 +383079,13 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. + + pmid:19152421 + Cleft between the helix and the lobe. + eom:cffbc3de49dbb172 + + + @@ -381577,9 +383099,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Small cartilaginous prominence on the posterior concha. - pmid:19152421 - Small cartilaginous prominence on the posterior concha. eom:193d1645eb4eced8 + Small cartilaginous prominence on the posterior concha. + pmid:19152421 @@ -381600,18 +383122,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Accessory Tragus - Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. - eom:095679c21044c851 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Extra cartilage in front of the ear + + eom:095679c21044c851 + Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. + + + @@ -381626,8 +383148,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. pmid:19152421 - Small indentation in the lower part of the ascending helix, concha, or in the crus helix. eom:1fe5d46deac24493 + Small indentation in the lower part of the ascending helix, concha, or in the crus helix. @@ -381644,9 +383166,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. - pmid:19152421 - Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. eom:ddce48fcd9ee46f4 + Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. + pmid:19152421 @@ -381670,57 +383192,57 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Anomaly of cartilage of nose - Malformation of nasal cartilage - orcid.org/0000-0001-5889-4463 + Abnormality of the nasal cartilage - + - orcid.org/0000-0001-5889-4463 - Deformity of nasal cartilage + ORCID:0000-0001-5889-4463 + Malformation of cartilage of nose - Anomaly of nasal cartilage - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Anomaly of cartilage of nose - Malformation of cartilage of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of cartilage of nose - Abnormality of the nasal cartilage + ORCID:0000-0001-5889-4463 + Abnormality of cartilage of nose - Anomaly of cartilage of nose - orcid.org/0000-0001-5889-4463 + Deformity of nasal cartilage + ORCID:0000-0001-5889-4463 - + + - orcid.org/0000-0001-5889-4463 - Abnormality of cartilage of nose + Malformation of nasal cartilage + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Deformity of cartilage of nose + Anomaly of nasal cartilage + ORCID:0000-0001-5889-4463 - - + @@ -381746,61 +383268,61 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately. - Absent cartilage of nose - orcid.org/0000-0001-5889-4463 - - - - - - orcid.org/0000-0001-5889-4463 - Failure of development of cartilage of nose + Absent nasal cartilage eom:73e4e8bb2eec316d - Lack of a palpable nasal cartilage. pmid:19152422 + Lack of a palpable nasal cartilage. + ORCID:0000-0001-5889-4463 Agenesis of cartilage of nose - orcid.org/0000-0001-5889-4463 - Failure of development of nasal cartilage - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Agenesis of nasal cartilage - + ORCID:0000-0001-5889-4463 Missing cartilage of nose - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Failure of development of nasal cartilage + + + + + Missing nasal cartilage + ORCID:0000-0001-5889-4463 - Agenesis of nasal cartilage - orcid.org/0000-0001-5889-4463 + Absent cartilage of nose + ORCID:0000-0001-5889-4463 + - Absent nasal cartilage + ORCID:0000-0001-5889-4463 + Failure of development of cartilage of nose @@ -381820,14 +383342,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Divergence of digits along the A/P axis (in the plane of the palm). - Spreading of the fingers - - - - - - pmid:19125433 eom:ebc67f029da3caac + pmid:19125433 Divergence of digits along the A/P axis (in the plane of the palm). @@ -381838,6 +383354,12 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. + + Spreading of the fingers + + + + @@ -381851,8 +383373,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not. - pmid:19125433 The absence of all phalanges of a digit and the associated metacarpal /metatarsal. + pmid:19125433 eom:603438e0616f4f69 @@ -381871,18 +383393,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered. - Small toe - - - - - + pmid:19125433 Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. eom:4d06c726e63758c5 - pmid:19125433 + + Small toe + + + + @@ -381896,18 +383418,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. - Partial absence of foot - - - - - - eom:6a2c173d3d7e3219 pmid:19125433 + eom:6a2c173d3d7e3219 An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. + + Partial absence of foot + + + + @@ -381922,19 +383444,19 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5. Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. - - eom:5b823be1388221a1 - pmid:19125433 - Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. - - - Small finger + + pmid:19125433 + eom:5b823be1388221a1 + Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. + + + @@ -382125,8 +383647,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Incomplete maturation of the public bone - orcid.org/0000-0001-5208-3432 Incomplete maturation of the public bone + ORCID:0000-0001-5208-3432 @@ -382146,7 +383668,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Partial hip dislocation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial hip dislocation @@ -382198,8 +383720,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].pmid:3409932 + ORCID:0000-0001-5208-3432 S-shaped calf bone - orcid.org/0000-0001-5208-3432 @@ -382293,18 +383815,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait. Walking on tiptoes - - pmid:24757457 - An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait. - - - Walking on tiptoes + + pmid:24757457 + An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait. + + + @@ -382318,7 +383840,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Freckles in groin region - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Freckles in groin region @@ -382437,8 +383959,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An abnormal reduction in mitochondrial DNA content of cells. - An abnormal reduction in mitochondrial DNA content of cells. pmid:23385875 + An abnormal reduction in mitochondrial DNA content of cells. @@ -382484,8 +384006,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. - pmid:17425791 A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. + pmid:17425791 @@ -382591,8 +384113,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. - A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. pmid:23696924 + A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. @@ -382676,13 +384198,13 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Neoplasm of the paranasal sinuses - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Tumor of the paranasal sinuses - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Neoplasm of the paranasal sinuses @@ -382783,7 +384305,7 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - + MSH:D001984 SNOMEDCT_US:126705004 @@ -382998,14 +384520,14 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Curvature of digit - pmid:16252026 An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). + pmid:16252026 Curvature of digit - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -383201,16 +384723,16 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. HPO:skoehler - Increased testosterone + High serum testosterone levels - - + HPO:skoehler - High serum testosterone levels + Increased testosterone - + + HPO:skoehler @@ -383219,8 +384741,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - Increased serum testosterone levels HPO:skoehler + Increased serum testosterone levels @@ -383278,8 +384800,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. HPO:probinson - An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. pmid:2185464 + An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. @@ -383308,8 +384830,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. - HPO:Probinson A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. + HPO:Probinson @@ -383325,10 +384847,10 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. - A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. - UToronto:HTrang HPO:probinson pmid:9400354 + UToronto:HTrang + A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. @@ -383356,8 +384878,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Reduced collagen 6 in muscle - A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. UToronto:HTrang + A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. @@ -383392,8 +384914,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. UToronto:htrang - pmid:11917091 Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. + pmid:11917091 @@ -383410,8 +384932,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Reduced dystrophin staining in muscle - UToronto:htrang A decreased amount of dystrophin in muscle fiber tissue. + UToronto:htrang @@ -383427,10 +384949,10 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. + pmid:11592034 + UToronto:htrang HPO:probinson Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. - UToronto:htrang - pmid:11592034 @@ -383447,9 +384969,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. HPO:probinson + UToronto:htrang Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. pmid:24843229 - UToronto:htrang @@ -383482,8 +385004,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. - A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. UToronto:htrang + A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. @@ -383499,10 +385021,10 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. + HPO:probinson UToronto:htrang pmid:24843229 Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. - HPO:probinson @@ -383518,9 +385040,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. - HPO:probinson - pmid:24843229 UToronto:htrang + pmid:24843229 + HPO:probinson Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. @@ -383539,8 +385061,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. pmid:24843229 Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. - UToronto:htrang HPO:probinson + UToronto:htrang @@ -383556,8 +385078,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. - Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. UToronto:htrang + Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. @@ -383624,8 +385146,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. - Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. UToronto:htrang + Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. @@ -383662,9 +385184,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. - A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. HPO:probinson pmid:24843229 + A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. @@ -383680,8 +385202,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. - UToronto:htrang Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. + UToronto:htrang @@ -383748,8 +385270,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. - Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. UToronto:htrang + Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. @@ -383765,9 +385287,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. - HPO:probinson A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. pmid:24843229 + HPO:probinson @@ -383836,8 +385358,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. pmid:24843229 - A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. HPO:probinson + A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. @@ -383853,9 +385375,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue. - HPO:probinson A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue. UToronto:htrang + HPO:probinson @@ -383970,9 +385492,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. - HPO:cmiller - pmid:18809794 Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. + pmid:18809794 + HPO:cmiller @@ -384006,8 +385528,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Absence of large von Willebrand Factor multimers on gel electrophoresis. - Absence of large von Willebrand Factor multimers on gel electrophoresis. HPO:cmiller + Absence of large von Willebrand Factor multimers on gel electrophoresis. @@ -384024,9 +385546,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Detection of abnormal ultra-large von Willebrand factor multimers. - Detection of abnormal ultra-large von Willebrand factor multimers. pmid:11756169 HPO:cmiller + Detection of abnormal ultra-large von Willebrand factor multimers. @@ -384042,8 +385564,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Complete absence of all von Willebrand factor multimers. - Complete absence of all von Willebrand factor multimers. HPO:cmiller + Complete absence of all von Willebrand factor multimers. @@ -384078,8 +385600,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. - Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. HPO:cmiller + Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. @@ -384113,18 +385635,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].UMLS:C4022610 An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. - - An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. - HPO:cmiller - - - Excessive bleeding from superficial cuts + + HPO:cmiller + An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. + + + @@ -384137,8 +385659,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An abnormal high amount of bleeding following the procedure of taking a blood sample. - An abnormal high amount of bleeding following the procedure of taking a blood sample. HPO:cmiller + An abnormal high amount of bleeding following the procedure of taking a blood sample. @@ -384158,14 +385680,20 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Recurrent or excessive bleeding from the mouth. - orcid.org/0000-0001-5889-4463 + HPO:cmiller + Recurrent or excessive bleeding from the mouth. + + + + Oral cavity hemorrhage + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Bleeding from mouth - orcid.org/0000-0001-5889-4463 @@ -384176,12 +385704,6 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - - Recurrent or excessive bleeding from the mouth. - HPO:cmiller - - - @@ -384194,19 +385716,19 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not. Abnormality of hairline at back of head - - Abnormality of hairline at back of head - orcid.org/0000-0001-5889-4463 - - - - HPO:probinson An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not. + + Abnormality of hairline at back of head + ORCID:0000-0001-5889-4463 + + + + @@ -384240,18 +385762,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Increased bowel sounds - HPO:probinson - An increased amount of bowel sounds. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bowel sounds + + An increased amount of bowel sounds. + HPO:probinson + + + @@ -384262,22 +385784,22 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. SNOMEDCT_US:15280003 UMLS:C0232695 - An decreased amount of bowel sounds. Decreased bowel sounds + An decreased amount of bowel sounds. - - orcid.org/0000-0001-5208-3432 - Decreased bowel sounds - - - - HPO:probinson An decreased amount of bowel sounds. + + Decreased bowel sounds + ORCID:0000-0001-5208-3432 + + + + @@ -384474,9 +385996,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. - HPO:probinson - Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. PMID:21994886 + Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. + HPO:probinson @@ -384536,20 +386058,20 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Bile duct cancer - Bile duct cancer - orcid.org/0000-0001-6908-9849 - - - - - - pmid:8268770 - HPO:probinson Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. + pmid:8268770 pmid:18536057 + HPO:probinson + + ORCID:0000-0001-6908-9849 + Bile duct cancer + + + + @@ -384585,9 +386107,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Clinical presentation of a ruptuerd gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. - pmid:22210542 HPO:probinson Rupture of the wall of the gallbladder. + pmid:22210542 @@ -384625,8 +386147,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Bence Jones proteins are produced by neoplastic plasma cells and can be found in the context of multiple myeloma or Waldenstrom's macroglobulinemia. - The presence of free monoclonal immunoglobulin light chains in the urine. pmid:7876381 + The presence of free monoclonal immunoglobulin light chains in the urine. HPO:probinson @@ -384648,16 +386170,16 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. - Kidney pain + Flank pain - + - Flank pain + Kidney pain - + @@ -384700,19 +386222,19 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Cervical tumor - orcid.org/0000-0001-6908-9849 - Cervical tumor - - - - - - HPO:probinson Abnormal growth of tissue projecting from a mucous membrane of the endocervix. + HPO:probinson pmid:21270291 + + ORCID:0000-0001-6908-9849 + Cervical tumor + + + + @@ -384730,18 +386252,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Inflammation of the uterine cervix. - Uterine cervix inflammation - orcid.org/0000-0001-5208-3432 + pmid:21270291 + Inflammation of the uterine cervix. + HPO:probinson - - + - HPO:probinson - Inflammation of the uterine cervix. - pmid:21270291 + Uterine cervix inflammation + ORCID:0000-0001-5208-3432 - + + @@ -384789,10 +386311,10 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Abnormally large size of glomeruli. - pmid:21115671 + Abnormally large size of glomeruli. pmid:9402101 + pmid:21115671 HPO:probinson - Abnormally large size of glomeruli. @@ -384848,19 +386370,19 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Pain in the jaw or ear induced by chewing or otherwise moving the jaw. - orcid.org/0000-0001-6908-9849 - Jaw pain while chewing - - - - - - Pain in the jaw or ear induced by chewing or otherwise moving the jaw. pmid:12972467 HPO:probinson + Pain in the jaw or ear induced by chewing or otherwise moving the jaw. + + Jaw pain while chewing + ORCID:0000-0001-6908-9849 + + + + @@ -384894,18 +386416,18 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections. - Night sweats - - - - - - pmid:23136329 HPO:probinson Occurence of excessive sweating during sleep. + pmid:23136329 + + Night sweats + + + + @@ -384938,8 +386460,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Dilatation of the superficial abdominal veins - pmid:5897968 Increase in diameter of the veins located underneath the skin of the abdomen. + pmid:5897968 @@ -384958,9 +386480,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Gastric varices - HPO:probinson Extreme dilation of the submucusoal veins in the stomach. pmid:24891929 + HPO:probinson @@ -384996,10 +386518,10 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].A collection of clotted blood surrounding the kidney. - pmid:17963347 pmid:3360039 - HPO:probinson A collection of clotted blood surrounding the kidney. + pmid:17963347 + HPO:probinson @@ -385084,8 +386606,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Increased amount of peripheral myelination. - HPO:probinson Increased amount of peripheral myelination. + HPO:probinson @@ -385131,8 +386653,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. - Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. HPO:jbeats + Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. @@ -385151,8 +386673,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. pmid:10727485 - HPO:jbeats The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). + HPO:jbeats @@ -385169,8 +386691,8 @@ a lack of fusion of these two centers of ossification [from PMID:9367321]. This feature may be observed in hereditary neuropathy with liability to pressure palsies, but also in acquired inflammatory neuropathies. - HPO:jbaets Loss of myelin from peripheral nerves in a pattern that differs between right and left. + HPO:jbaets @@ -385241,9 +386763,9 @@ a lack of fusion of these two centers of ossification [from PMID:9367321].Gordon's reflex indicates a lesion of the pyramidal tract. + pmid:18637037 Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). UKT:rschuele - pmid:18637037 @@ -385273,10 +386795,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com Visually enhanced vestibulo-ocular reflex impairment + pmid:16954982 + HPO:probinson The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). - HPO:probinson - pmid:16954982 @@ -385293,19 +386815,19 @@ interaction. This feature is an impairment of this reflex, manifested as the com Dystonia tremor An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). - - Dystonia tremor - orcid.org/0000-0001-6908-9849 - - - An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). - HPO:probinson pmid:21404980 + HPO:probinson + + ORCID:0000-0001-6908-9849 + Dystonia tremor + + + @@ -385324,7 +386846,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Essential tremor @@ -385342,9 +386864,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Nodding movement of the head or body. + HPO:probinson pmid:4821687 Nodding movement of the head or body. - HPO:probinson @@ -385361,15 +386883,15 @@ interaction. This feature is an impairment of this reflex, manifested as the com Tremor of a body part + ORCID:0000-0001-6908-9849 Tremor of a body part - orcid.org/0000-0001-6908-9849 - Tremor classified by the affected body part. HPO:probinson + Tremor classified by the affected body part. @@ -385408,10 +386930,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. - HPO:probinson - UNCL:mbertoli A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. pmid:17986328 + UNCL:mbertoli + HPO:probinson @@ -385428,8 +386950,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. - UNCL:tevangelista pmid:17986328 + UNCL:tevangelista @@ -385543,8 +387065,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. - UK:rheller A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. + UK:rheller @@ -385578,8 +387100,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. - UK:rheller Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. + UK:rheller @@ -385596,8 +387118,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. - UK:rheller Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. + UK:rheller @@ -385616,9 +387138,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). - The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). - pmid:21654930 UK:rheller + pmid:21654930 + The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). @@ -385635,9 +387157,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com This feature may be observed with Lambert-Eaton Myasthenic Ssyndrome. - A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. - pmid:23970984 UK:rheller + pmid:23970984 + A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. @@ -385659,8 +387181,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Flail chest - Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. HPO:tevangelista + Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. @@ -385676,8 +387198,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor. - The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor. UK:rheller + The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor. @@ -385694,8 +387216,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com This abnormality can be observed in patients with Lambert-Eaton syndrome and other paraneoplastic syndromes. - The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. pmid:7739683 + The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. UNCL:mbertoli @@ -385713,9 +387235,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Anti-MUSK antibodies - UNCL:hlochmueller The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). pmid:22770539 + UNCL:hlochmueller @@ -385732,8 +387254,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Reduced velocity and acceleration in the pupillary light response. - pmid:974056 UNCL:tevangelista + pmid:974056 @@ -385769,8 +387291,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. - ICM:PCaroppo Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. + ICM:PCaroppo @@ -385789,8 +387311,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Sex addiction - orcid.org/0000-0001-5208-3432 Sex addiction + ORCID:0000-0001-5208-3432 @@ -385837,8 +387359,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). - ICM:PCaroppo Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). + ICM:PCaroppo @@ -385873,8 +387395,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com ICM:PCaroppo Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. - pmid:15077237 pmid:25452726 + pmid:15077237 @@ -385893,9 +387415,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Trouble remembering words - A progressive loss of the ability to remember the meaning of words, faces and objects. - ICM:PCaroppo pmid:24966676 + ICM:PCaroppo + A progressive loss of the ability to remember the meaning of words, faces and objects. @@ -385924,8 +387446,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com - Behavior that is not in line with social norms. ICM:PCaroppo + Behavior that is not in line with social norms. @@ -385942,16 +387464,16 @@ interaction. This feature is an impairment of this reflex, manifested as the com Excessive desire to eat sweet foods. - Sweet craving + ICM:PCaroppo + Excessive desire to eat sweet foods. - - + - Excessive desire to eat sweet foods. - ICM:PCaroppo + Sweet craving - + + @@ -385986,19 +387508,19 @@ interaction. This feature is an impairment of this reflex, manifested as the com Perseverative behavior Perseverative behaviour - - Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact. - HPO:probinson - pmid:9050113 - - - Perseverative behaviour + + HPO:probinson + Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact. + pmid:9050113 + + + @@ -386011,8 +387533,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein. - Neuromics:vstraub A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein. + Neuromics:vstraub @@ -386029,8 +387551,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Muscle fiber desmin-reactive inclusion bodies - Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. Neuromics:vstraub + Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. @@ -386046,8 +387568,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. - A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. Neuromics:vstraub + A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. @@ -386063,8 +387585,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. - Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. Neuromics:vstraub + Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. @@ -386114,8 +387636,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. - pmid:17504518 Neuromics:vstraub + pmid:17504518 The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. @@ -386132,8 +387654,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An increased amount of glycogen in muscle tissue found specifically in lysosomes. - An increased amount of glycogen in muscle tissue found specifically in lysosomes. Neuromics:vstraub + An increased amount of glycogen in muscle tissue found specifically in lysosomes. @@ -386167,8 +387689,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. - Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. Neuromics:vstraub + Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. @@ -386201,8 +387723,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An increased CPK level more than 50X above the upper normal level. - Neuromics:vstraub An increased CPK level more than 50X above the upper normal level. + Neuromics:vstraub @@ -386219,8 +387741,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormalities of the overall muscle bulk based on clinical observation. - Neuromics:vstraub Abnormalities of the overall muscle bulk based on clinical observation. + Neuromics:vstraub @@ -386250,8 +387772,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com - HPO:probinson Reduced strength of the musculature of the hand. + HPO:probinson @@ -386267,19 +387789,19 @@ interaction. This feature is an impairment of this reflex, manifested as the com Underdeveloped upper arm muscles Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. - - Underdeveloped upper arm muscles - orcid.org/0000-0001-5208-3432 - - - - Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. HPO:probinson + + ORCID:0000-0001-5208-3432 + Underdeveloped upper arm muscles + + + + @@ -386356,14 +387878,14 @@ interaction. This feature is an impairment of this reflex, manifested as the com HPO:probinson - Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins. pmid:21960890 + Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins. - orcid.org/0000-0001-6908-9849 Blood clot in portal vein + ORCID:0000-0001-6908-9849 @@ -386404,17 +387926,17 @@ interaction. This feature is an impairment of this reflex, manifested as the com Blood clot in liver vein - orcid.org/0000-0001-5208-3432 - Blood clot in liver vein + An obstruction in the veins of the liver caused by a blood clot (thrombosis). + HPO:probinson - - + - HPO:probinson - An obstruction in the veins of the liver caused by a blood clot (thrombosis). + Blood clot in liver vein + ORCID:0000-0001-5208-3432 - + + @@ -386430,9 +387952,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com The occurence of an elevated body temperature of the mother during pregnancy. - The occurence of an elevated body temperature of the mother during pregnancy. - pmid:24567014 HPO:probinson + pmid:24567014 + The occurence of an elevated body temperature of the mother during pregnancy. @@ -386450,17 +387972,17 @@ interaction. This feature is an impairment of this reflex, manifested as the com Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Maternal fever during labor + pmid:8135133 pmid:11430951 The occurence of maternal fever during labor. HPO:probinson - pmid:8135133 @@ -386476,9 +387998,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com The occurence of fever in a mother during the first trimester of pregnancy. - pmid:24917213 HPO:probinson The occurence of fever in a mother during the first trimester of pregnancy. + pmid:24917213 @@ -386495,17 +388017,17 @@ interaction. This feature is an impairment of this reflex, manifested as the com Blood clot in splanchnic vein - HPO:probinson - The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). - pmid:20532730 + Blood clot in splanchnic vein + ORCID:0000-0001-6908-9849 - + - Blood clot in splanchnic vein - orcid.org/0000-0001-6908-9849 + The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). + pmid:20532730 + HPO:probinson - + @@ -386523,8 +388045,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Blood clot in mesentertic vein - orcid.org/0000-0001-6908-9849 Blood clot in mesentertic vein + ORCID:0000-0001-6908-9849 @@ -386569,8 +388091,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. - Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. HPO:probinson + Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. @@ -386604,8 +388126,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A reduced ability of a T cell population to expand by cell division following T cell activation. - A reduced ability of a T cell population to expand by cell division following T cell activation. HPO:probinson + A reduced ability of a T cell population to expand by cell division following T cell activation. @@ -386703,8 +388225,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Localized or generalized increased genital pigmentation. - orcid.org/0000-0001-5208-3432 Increased genital pigmentation + ORCID:0000-0001-5208-3432 @@ -386724,7 +388246,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Decreased genital pigmentation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -386887,18 +388409,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com The distal limit of the skinfold can be located on the penile shaft or the tip of the penis. Ventral skinfold extending from penis to scrotum. - - Webbed penis - - - - pmid:23650202 Ventral skinfold extending from penis to scrotum. + + Webbed penis + + + + @@ -386931,18 +388453,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com Wide penis Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. - - pmid:23650202 - Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. - - - Wide penis + + pmid:23650202 + Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. + + + @@ -386982,10 +388504,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. + Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. pmid:17451374 - HPO:probinson pmid:12913845 - Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. + HPO:probinson @@ -387007,15 +388529,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. pmid:18436706 + HPO:probinson - - HPO:probinson - Increased serum insulin-like growth factor 1 - - - @@ -387028,9 +388545,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. - Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. - HPO:probinson pmid:3348976 + HPO:probinson + Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. @@ -387095,7 +388612,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Extra scrotum - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -387120,18 +388637,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations. - pmid:23650202 - Scrotum in a position other than the usual position inferior to the base of the penis. - - - - - orcid.org/0000-0001-5208-3432 Abnormal scrotum position + ORCID:0000-0001-5208-3432 + + pmid:23650202 + Scrotum in a position other than the usual position inferior to the base of the penis. + + + @@ -387147,6 +388664,12 @@ interaction. This feature is an impairment of this reflex, manifested as the com A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. Apparently small scrotum for age. + + Small scrotum + + + + Underdeveloped scrotum @@ -387159,12 +388682,6 @@ interaction. This feature is an impairment of this reflex, manifested as the com - - Small scrotum - - - - @@ -387198,8 +388715,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com The pedicle is part of the lumbar vertebrae - each lumbar vertebra consists of a vertebral body and a vertebral arch. The vertebral arch, consisting of a pair of pedicles and a pair of laminae, encloses the vertebral foramen. - Abnormal morphology of a vertebral pedical. UToronto:bgallinger + Abnormal morphology of a vertebral pedical. @@ -387252,8 +388769,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Underdeveloped pedicle of the fifth lumbar vertebra. - UToronto:bgallinger Underdeveloped pedicle of the fifth lumbar vertebra. + UToronto:bgallinger @@ -387374,18 +388891,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com - UToronto:bgallinger - A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. - - - - - orcid.org/0000-0001-5889-4463 Triangle shaped tongue + ORCID:0000-0001-5889-4463 + + UToronto:bgallinger + A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. + + + @@ -387473,17 +388990,17 @@ interaction. This feature is an impairment of this reflex, manifested as the com An abnormal flattening of an epiphysis of femur. - orcid.org/0000-0001-5208-3432 - Flattended end part of thigh bone + An abnormal flattening of an epiphysis of femur. + HPO:probinson - - + - HPO:probinson - An abnormal flattening of an epiphysis of femur. + ORCID:0000-0001-5208-3432 + Flattended end part of thigh bone - + + @@ -387647,8 +389164,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Irregularity of the normally smooth surface of a metaphysis of a tibia. - Irregularity of the normally smooth surface of a metaphysis of a tibia. HPO:probinson + Irregularity of the normally smooth surface of a metaphysis of a tibia. @@ -387685,15 +389202,15 @@ interaction. This feature is an impairment of this reflex, manifested as the com Irregularity of the normally smooth surface of a metaphysis of a fibula. - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregularity of wide portion of calf bone - HPO:probinson Irregularity of the normally smooth surface of a metaphysis of a fibula. + HPO:probinson @@ -387761,14 +389278,14 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormality of wide portion of outermost thighbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - An anomaly of the metaphysis of the distal femur (close to the knee). HPO:probinson + An anomaly of the metaphysis of the distal femur (close to the knee). @@ -387784,18 +389301,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com UMLS:C4022526 Presence of only 10 (instead of the usual 12) pairs of ribs. - - 10 pairs of ribs - - - - UToronto:bgallinger Presence of only 10 (instead of the usual 12) pairs of ribs. + + 10 pairs of ribs + + + + @@ -387829,8 +389346,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. - An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. UToronto:bgallinger + An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. @@ -387880,8 +389397,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A deviation from the normal number of vertebrae in the spinal column. - A deviation from the normal number of vertebrae in the spinal column. HPO:probinson + A deviation from the normal number of vertebrae in the spinal column. @@ -387927,8 +389444,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com The presence of 11 instead of the normal 12 thoracic vertebrae. - UToronto:bgallinger The presence of 11 instead of the normal 12 thoracic vertebrae. + UToronto:bgallinger @@ -387946,13 +389463,13 @@ interaction. This feature is an impairment of this reflex, manifested as the com Flared metaphysis of lower limb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. HPO:probinson + The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. @@ -387976,14 +389493,14 @@ interaction. This feature is an impairment of this reflex, manifested as the com - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Flared outermost metaphysis of shankbone + ORCID:0000-0001-5208-3432 Flared outermost metaphysis of shinbone - orcid.org/0000-0001-5208-3432 @@ -388000,18 +389517,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. - HPO:probinson - The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. - - - - + ORCID:0000-0001-5208-3432 Flared outermost wide portion of of calf bone - orcid.org/0000-0001-5208-3432 + + HPO:probinson + The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. + + + @@ -388024,19 +389541,19 @@ interaction. This feature is an impairment of this reflex, manifested as the com Dislocated arm joints Displacement or malalignment of one or more joints in the upper extremity (arm). - - orcid.org/0000-0001-5208-3432 - Dislocated arm joints - - - - Displacement or malalignment of one or more joints in the upper extremity (arm). HPO:probinson + + ORCID:0000-0001-5208-3432 + Dislocated arm joints + + + + @@ -388050,14 +389567,14 @@ interaction. This feature is an impairment of this reflex, manifested as the com Displacement or malalignment of one or more joints in the lower extremity (leg). - HPO:probinson Displacement or malalignment of one or more joints in the lower extremity (leg). + HPO:probinson + ORCID:0000-0001-5208-3432 Dislocated leg joints - orcid.org/0000-0001-5208-3432 @@ -388074,18 +389591,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). Obliteration of cranial cancellous bone - - orcid.org/0000-0001-5889-4463 - Obliteration of cranial cancellous bone - - - HPO:probinson Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). + + Obliteration of cranial cancellous bone + ORCID:0000-0001-5889-4463 + + + @@ -388160,21 +389677,21 @@ interaction. This feature is an impairment of this reflex, manifested as the com - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Inflammation of oral commisures - orcid.org/0000-0001-5889-4463 - Red and sore corners of the mouth + Inflammation of corners of the mouth + ORCID:0000-0001-5889-4463 - Inflammation of corners of the mouth - orcid.org/0000-0001-5889-4463 + Red and sore corners of the mouth + ORCID:0000-0001-5889-4463 @@ -388198,52 +389715,52 @@ interaction. This feature is an impairment of this reflex, manifested as the com Decreased facial muscle strength - Decreased facial muscle strength - orcid.org/0000-0001-5889-4463 - - - - - - Weakness of facial musculature + ORCID:0000-0001-5889-4463 + Decreased strength of facial muscles - HPO:probinson Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). + HPO:probinson - Face weakness + Weakness of facial musculature - orcid.org/0000-0001-5889-4463 - Myasthenia of facial muscles + Weakness of face + - Weakness of face + ORCID:0000-0001-5889-4463 + Decreased facial muscle strength - Decreased strength of facial muscles - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Myasthenia of facial muscles + + + + + Face weakness + ORCID:0000-0001-5889-4463 Reduced facial muscle strength - orcid.org/0000-0001-5889-4463 @@ -388318,8 +389835,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormality of the vertebral artery - HPO:probinson An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. + HPO:probinson @@ -388363,9 +389880,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Underdevelopment of the vertebral artery on both sides. - pmid:23816871 - HPO:probinson Underdevelopment of the vertebral artery on both sides. + HPO:probinson + pmid:23816871 @@ -388381,8 +389898,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Fissure within the spinal cord of the neck. - Fissure within the spinal cord of the neck. HPO:probinson + Fissure within the spinal cord of the neck. @@ -388446,8 +389963,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Decreased number of osteoclasts. - HPO:probinson Decreased number of osteoclasts. + HPO:probinson @@ -388464,8 +389981,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). - HPO:probinson Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). + HPO:probinson @@ -388487,8 +390004,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. - HPO:probinson The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. + HPO:probinson @@ -388504,9 +390021,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). - pmid:19375384 - UToronto:bgallinger A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). + UToronto:bgallinger + pmid:19375384 @@ -388664,8 +390181,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). - An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). HPO:probinson + An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). @@ -388711,8 +390228,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). - HPO:probinson An reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). + HPO:probinson @@ -388724,14 +390241,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com obsolete Increased circulating gonadotropin level true - An elevation in the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). + HP:0000837 - - HPO:probinson - An elevation in the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). - - - @@ -388962,8 +390473,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. - HPO:probinson An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. + HPO:probinson @@ -389013,8 +390524,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. - A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. HPO:probinson + A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. @@ -389059,8 +390570,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. - HPO:probinson An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. + HPO:probinson @@ -389076,8 +390587,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. - HPO:probinson A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. + HPO:probinson @@ -389093,8 +390604,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormal levels of interferon in the blood. - Abnormal levels of interferon in the blood. PMID:28487810 + Abnormal levels of interferon in the blood. @@ -389110,8 +390621,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormal levels of interferon gamma measured in the blood circulation. - PMID:11335769 Abnormal levels of interferon gamma measured in the blood circulation. + PMID:11335769 @@ -389127,9 +390638,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com An elevation in the concentration of interferon gamma measured in the blood circulation. + HPO:probinson pmid:11335769 An elevation in the concentration of interferon gamma measured in the blood circulation. - HPO:probinson @@ -389151,8 +390662,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. - HPO:probinson Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. + HPO:probinson @@ -389201,8 +390712,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. - A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. HPO:probinson + A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. @@ -389220,8 +390731,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com The icosanoids include the prostaglandins, prostacyclins, thromboxanes, leukotrienes, and epoxyeicosatrienoic acids. Icosanoids have various roles in processes that regulate inflammation, fever, blood pressure, blood clotting, immune system function, reproductive processes and tissue growth, and the sleep/wake cycle. - HPO:probinson An anomaly of the metabolism of an icosanoid (also know as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). + HPO:probinson @@ -389275,8 +390786,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. - HPO:probinson Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. + HPO:probinson @@ -389293,8 +390804,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. - Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. pmid:24104780 + Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. HPO:probinson @@ -389312,8 +390823,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com pmid:23962177 - HPO:probinson The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. + HPO:probinson @@ -389341,10 +390852,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. - HPO:probinson An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. - pmid:25480037 + HPO:probinson pmid:6540680 + pmid:25480037 @@ -389395,8 +390906,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. - An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. HPO:probinson + An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. @@ -389429,8 +390940,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A deviation of the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). - A deviation of the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). pmid:15771579 + A deviation of the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). HPO:probinson @@ -389447,8 +390958,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). - A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). HPO:probinson + A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). @@ -389464,8 +390975,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). - HPO:probinson An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). + HPO:probinson @@ -389481,8 +390992,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A deviation from normal proportion immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). - HPO:probinson A deviation from normal proportion immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). + HPO:probinson @@ -389498,8 +391009,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). - HPO:probinson An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). + HPO:probinson @@ -389532,9 +391043,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. - PMID:23731328 - HPO:probinson A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. + HPO:probinson + PMID:23731328 @@ -389584,8 +391095,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. - A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. HPO:probinson + A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. PMID:9802980 @@ -389602,8 +391113,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. - PMID:9802980 A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. + PMID:9802980 @@ -389620,8 +391131,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com HPO:probinson - An elevation in the normal proportion fof marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. PMID:9802980 + An elevation in the normal proportion fof marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. @@ -389637,9 +391148,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. + pmid:19342988 HPO:probinson A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. - pmid:19342988 @@ -389655,8 +391166,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. - HPO:probinson An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. + HPO:probinson @@ -389672,8 +391183,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. - HPO:probinson A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. + HPO:probinson @@ -389689,8 +391200,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An anomaly of the metabolism of thromboxane (CHEBI:26995). Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. - HPO:probinson An anomaly of the metabolism of thromboxane (CHEBI:26995). Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. + HPO:probinson @@ -389723,8 +391234,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. - HPO:probinson Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. + HPO:probinson @@ -389744,8 +391255,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. - HPO:probinson pmid:11135453 + HPO:probinson @@ -389766,8 +391277,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Low-grade adenocarcinoma of endolymphatic sac origin - A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). pmid:24966979 + A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). @@ -389815,8 +391326,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. - HPO:probinson Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. + HPO:probinson @@ -389832,9 +391343,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. - pmid:19450911 - Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. HPO:probinson + Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. + pmid:19450911 @@ -389851,8 +391362,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormal release of dense granules from platelets. - Abnormal release of dense granules from platelets. HPO:probinson + Abnormal release of dense granules from platelets. @@ -389879,8 +391390,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormal release of alpha granule contents from platelets. - Abnormal release of alpha granule contents from platelets. HPO:probinson + Abnormal release of alpha granule contents from platelets. @@ -389930,8 +391441,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. - HPO:probinson An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. + HPO:probinson @@ -389970,8 +391481,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com The excessive glucagon secreted by a glucagonoma may lead to dermatitis (migratory necrolytic erythema), glucose intolerance, weight loss, anemia, diarrhea, and thromboembolism. - HPO:probinson An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. + HPO:probinson @@ -390047,9 +391558,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Pinealoblastoma - HPO:probinson - PMID:21717450 Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells. + HPO:probinson + PMID:21717450 @@ -390076,8 +391587,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com - HPO:probinson A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. + HPO:probinson @@ -390103,8 +391614,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Sebaceous carcinoma - A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance. HPO:probinson + A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance. @@ -390219,8 +391730,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A carcinoma derived from a squamous epithelial cell of the tongue. - HPO:probinson A carcinoma derived from a squamous epithelial cell of the tongue. + HPO:probinson @@ -390248,9 +391759,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. - Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. - HPO:probinson pmid:20730609 + HPO:probinson + Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. @@ -390300,14 +391811,14 @@ interaction. This feature is an impairment of this reflex, manifested as the com Tumor of the vulva - HPO:probinson A tumor (abnormal growth of tissue) of the female external genital tract (vulva). + HPO:probinson Tumor of the vulva - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -390326,9 +391837,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Vulval squamous cell carcinoma - A cancer that originates in the sqamous cells that line the surface of the vulva. pmid:25848321 HPO:probinson + A cancer that originates in the sqamous cells that line the surface of the vulva. @@ -390462,15 +391973,15 @@ interaction. This feature is an impairment of this reflex, manifested as the com Cyst on spleen - A closed sac located in the spleen. - pmid:24794024 HPO:probinson + pmid:24794024 + A closed sac located in the spleen. - http://orcid.org/0000-0001-5208-3432 Cyst on spleen + ORCID:0000-0001-5208-3432 @@ -390492,18 +392003,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com A smooth, extratesticular, spherical cyst in the head of the epididymis. - Epididymal cysts - HPO:skoehler - - - - - HPO:probinson pmid:14767330 + HPO:probinson A smooth, extratesticular, spherical cyst in the head of the epididymis. + + Epididymal cysts + HPO:skoehler + + + @@ -390538,8 +392049,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A benign central bone tumor composed of fibrous connective tissue within which bone is formed. - HPO:probinson A benign central bone tumor composed of fibrous connective tissue within which bone is formed. + HPO:probinson @@ -390605,9 +392116,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com A myxoma originating in the skin. + A myxoma originating in the skin. pmid:25118746 HPO:probinson - A myxoma originating in the skin. @@ -390625,8 +392136,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. - pmid:15661706 A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. + pmid:15661706 HPO:probinson @@ -390650,14 +392161,6 @@ interaction. This feature is an impairment of this reflex, manifested as the com Nerve tumor A tumor made up of nerve cells and nerve fibers. - - Nerve tumor - http://orcid.org/0000-0001-5208-3432 - http://www.apma.org/learn/foothealth.cfm?itemnumber=987 - - - - HPO:probinson A tumor made up of nerve cells and nerve fibers. @@ -390665,13 +392168,21 @@ interaction. This feature is an impairment of this reflex, manifested as the com - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Pinched nerve http://www.apma.org/learn/foothealth.cfm?itemnumber=987 + + ORCID:0000-0001-5208-3432 + http://www.apma.org/learn/foothealth.cfm?itemnumber=987 + Nerve tumor + + + + @@ -390690,22 +392201,22 @@ interaction. This feature is an impairment of this reflex, manifested as the com Osteocartilaginous exostoses + HPO:probinson A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. pmid:18271966 - HPO:probinson - HPO:skoehler - Osteochondromas + ORCID:0000-0001-5208-3432 + Osteocartilaginous exostoses + https://en.wikipedia.org/wiki/osteochondroma - https://en.wikipedia.org/wiki/osteochondroma - http://orcid.org/0000-0001-5208-3432 - Osteocartilaginous exostoses + HPO:skoehler + Osteochondromas @@ -390725,8 +392236,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com HPO:probinson - A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. pmid:19387641 + A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. @@ -390746,8 +392257,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com HPO:probinson - pmid:23329939 A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone. + pmid:23329939 @@ -390768,8 +392279,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. - HPO:probinson pmid:21430899 + HPO:probinson @@ -390788,15 +392299,15 @@ interaction. This feature is an impairment of this reflex, manifested as the com Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. - HPO:skoehler Fibrofolliculomas + HPO:skoehler + Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. pmid:17804924 HPO:probinson - Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. @@ -390844,8 +392355,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Anal canal tumor - http://orcid.org/0000-0001-5208-3432 Anal canal tumor + ORCID:0000-0001-5208-3432 @@ -390913,9 +392424,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com An adenoma carcinoma that originates in the anal canal. - pmid:22379406 - An adenoma carcinoma that originates in the anal canal. HPO:probinson + An adenoma carcinoma that originates in the anal canal. + pmid:22379406 @@ -390932,9 +392443,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com A tumor of the anal margin. - pmid:22379406 - A tumor of the anal margin. HPO:probinson + A tumor of the anal margin. + pmid:22379406 @@ -390951,9 +392462,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Macroscopically, anal margin Paget's disease presents as an erythematous and eczematous rash similar to benign skin conditions or other perianal diseases such as Bowen's disease, hydradenitis suppurativa, pruritus ani, or Crohn's disease. + HPO:probinson pmid:22379406 An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells. - HPO:probinson @@ -390971,9 +392482,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com A squamous cell carcinoma that originates in the skin of the anal margin. - HPO:probinson pmid:22379406 A squamous cell carcinoma that originates in the skin of the anal margin. + HPO:probinson @@ -391025,10 +392536,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. - HPO:probinson pmid:21043816 A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. pmid:24179657 + HPO:probinson @@ -391066,9 +392577,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Merkel cell cancer of the skin + pmid:16565213 A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. HPO:probinson - pmid:16565213 @@ -391116,8 +392627,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. - Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. HPO:probinson + Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. @@ -391167,8 +392678,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. - HPO:probinson A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. + HPO:probinson pmid:19946589 @@ -391310,8 +392821,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. - PMID:25502644 No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. + PMID:25502644 @@ -391337,10 +392848,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. + An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. HPO:probinson PMID:17522779 PMID:3076152 - An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. @@ -391409,13 +392920,13 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormal light-adapted 30Hz flicker electroretinogram - Abnormal light-adapted 30Hz flicker ERG + Abnormal light-adapted flicker ERG - Abnormal light-adapted flicker ERG + Abnormal light-adapted 30Hz flicker ERG @@ -391686,7 +393197,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. @@ -391711,8 +393222,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. - Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. PMID:6169833 + Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. @@ -391728,7 +393239,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. @@ -391852,8 +393363,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Crystalline deposits in the retina. - Crystalline deposits in the retina. PMID:12498506 + Crystalline deposits in the retina. @@ -391905,18 +393416,18 @@ interaction. This feature is an impairment of this reflex, manifested as the com Difficulty seeing moving objects - Difficulty in seeing moving objects. - pmid:25770143 - - - - + ORCID:0000-0001-5208-3432 Difficulty seeing moving objects - orcid.org/0000-0001-5208-3432 + + Difficulty in seeing moving objects. + pmid:25770143 + + + @@ -391967,8 +393478,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com + ORCID:0000-0001-5208-3432 Moderate low vision - http://orcid.org/0000-0001-5208-3432 http://www.aoa.org/patients-and-public/caring-for-your-vision/low-vision?sso=y @@ -392146,7 +393657,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Arc-shaped blind spot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -393189,8 +394700,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. - PMID:27847630 Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. + PMID:27847630 @@ -393235,8 +394746,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities. - UManchester:psergouniotis Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities. + ORCID:0000-0003-0986-4123 @@ -393414,9 +394925,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. - HPO:probinson PMID:20719302 Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. + HPO:probinson @@ -393579,12 +395090,12 @@ interaction. This feature is an impairment of this reflex, manifested as the com SNOMEDCT_US:417393008 UMLS:C1563272 Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Vitreous snowballs can be observed in intermediate uveitis. - PMID:20029143 Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. + PMID:20029143 @@ -393598,8 +395109,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com UMLS:C4073117 Normally, there are no leukocytes in the vitreous as this is an immune-privileged site. If the blood-retinal barrier is disrupted, then leukocytes gain access to the vitreous. Vitreous inflammatory cells can be measured by flow cytometry of vitreous fluid. - UManchester:psergouniotis The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. + ORCID:0000-0003-0986-4123 @@ -393610,13 +395121,13 @@ interaction. This feature is an impairment of this reflex, manifested as the com Optically empty vitreous UMLS:C4073118 + ORCID:0000-0003-0986-4123 Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. - UManchester:psergouniotis PMID:15557460 - PMID:7867814 Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. + PMID:7867814 @@ -393635,8 +395146,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. - Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. PMID:2146943 + Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. @@ -393678,8 +395189,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com When traction retinal detachment involves the macula, which is responsible for reading and driving vision, severe visual loss occurs. - In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment. PMID:23329331 + In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment. @@ -393697,8 +395208,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com HPO:probinson - PMID:22076700 A type of retinal neovascularization that affects the periphery of the retina. + PMID:22076700 HPO:probinson @@ -393817,7 +395328,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com UMLS:C4073122 Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also know as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Abnormality of the common tendinous ring @@ -393837,8 +395348,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com SNOMEDCT_US:95800001 UMLS:C0521770 The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. - UManchester:psergouniotis Asteroid hyalosis is a degenerative process. + ORCID:0000-0003-0986-4123 @@ -393852,11 +395363,11 @@ interaction. This feature is an impairment of this reflex, manifested as the com SNOMEDCT_US:232064001 UMLS:C1840452 A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 - PMID:8152765 A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. + PMID:8152765 @@ -393883,8 +395394,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Onset prior to birth. - HPO:probinson Onset prior to birth. + HPO:probinson @@ -393951,10 +395462,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com A hypopigmented spot in the shape of a leaf from the mountain ash tree. + PMID:9637809 + A hypopigmented spot in the shape of a leaf from the mountain ash tree. HPO:probinson PMID:23761491 - A hypopigmented spot in the shape of a leaf from the mountain ash tree. - PMID:9637809 @@ -394108,8 +395619,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com HPO:probinson - A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. PMID:26221520 + A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. @@ -394154,8 +395665,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Glucagon is a 29-amino acid polypeptide that is manufactured by the alpha cells of the pancreatic islets. It plays a key role in glucose counterregulation in response to hypoglycemia. Hypoglycemia is normally a powerful stimulator of glucagon secretion. - HPO:probinson A deviation from the normal concentration of glucagon in the blood circulation. + HPO:probinson @@ -394275,8 +395786,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location. - PMID:23291329 - UToronto:chum + PMID:23291329 + UToronto:chum A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location. @@ -394295,8 +395806,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Unilateral pulmonary agenesis + UToronto:chum Unilateral pulmonary agenesis - UToronto:chum @@ -394314,9 +395825,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Myeloschisis is a cleft spinal cord arising from a failure of neural tube closure. The placode is defined as a plate of embryonic epithelial cells constituting a primordial cell group from which the spinal cord arises and is often seen in a myelomeningocele. In a myelomeningocele, an exposed placode is often a myeloschisis. In other words, a myeloschisis is a collapsed myelomeningocele. When the placode in the myelomeningocele sac is a cleft spinal cord, this anomaly is classified as myeloschisis rather than myelomeningocele. - PMID:20885122 - UToronto:chum + PMID:20885122 The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. + UToronto:chum @@ -394336,8 +395847,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Localized dilatation of the central canal of the spinal cord which produces a fluid-filled sac or diverticulum which then protrudes through the cord and the defective dorsal dura between the posterior parts of the vertebra. - PMID:9514174 - UToronto:chum + UToronto:chum + PMID:9514174 Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. @@ -394355,8 +395866,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. - UToronto:chum A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. + UToronto:chum @@ -394374,7 +395885,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. - UToronto:chum + UToronto:chum Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. @@ -394395,7 +395906,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Asherman syndrome - UToronto:chum + UToronto:chum Adhesions or scar tissue that form inside the cavity of the uterus. @@ -394417,7 +395928,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Vein of Galen aneurysm - UToronto:chum + UToronto:chum Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation. @@ -394435,8 +395946,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A large maternal clot that separates the chorionic place from the villous chorion. - UToronto:chum - PMID:11125254 + UToronto:chum + PMID:11125254 A large maternal clot that separates the chorionic place from the villous chorion. @@ -394475,8 +395986,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. - UToronto:chum A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. + UToronto:chum @@ -394494,7 +396005,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. - UToronto:chum + UToronto:chum Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. @@ -394509,12 +396020,12 @@ interaction. This feature is an impairment of this reflex, manifested as the com SNOMEDCT_US:57341009 UMLS:C0270250 - peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. + Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. - UToronto:chum - PMID:3317498 - peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. + PMID:3317498 + UToronto:chum + Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. @@ -394549,14 +396060,16 @@ interaction. This feature is an impairment of this reflex, manifested as the com SNOMEDCT_US:67751000119106 UMLS:C0748427 Increase in size of the right atrium. - Right atrial dilatation - This feature can be appreciated on chext radiography, MRI, or CT. + Fyler:2859 Dilated right atrium Enlarged heart right atrium + Right atrial dilatation + This feature can be appreciated on chext radiography, MRI, or CT. + Fyler:1771 - HPO:probinson Increase in size of the right atrium. + HPO:probinson @@ -394575,9 +396088,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. - PMID:14246338 - UToronto:chum + PMID:14246338 A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. + UToronto:chum @@ -394593,7 +396106,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Cyst on the surface of the placenta consisting of amnion and chorion. - UToronto:chum + UToronto:chum Cyst on the surface of the placenta consisting of amnion and chorion. @@ -394610,7 +396123,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com Phocomelia involving all four extremities. - UToronto:chum + UToronto:chum Phocomelia involving all four extremities. @@ -394642,17 +396155,17 @@ interaction. This feature is an impairment of this reflex, manifested as the com - + SNOMEDCT_US:253813000 UMLS:C0431603 Ectopic liver tissue can occur in several different organs, but the gallbladder is the commonest site of origin. Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. - HPO:probinson - PMID:637502 - Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. PMID:11988792 + Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. + PMID:637502 + HPO:probinson @@ -394668,8 +396181,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. - PMID:20981865 - UToronto:chum + PMID:20981865 + UToronto:chum Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. @@ -394690,8 +396203,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Cyst of the central nervous system - PMID:24455569 HPO:probinson + PMID:24455569 PMID:11593239 A fluid-filled sac (cyst) located within the central nervous system. @@ -394731,8 +396244,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A neurenteric cyst located in the spine. - UToronto:chum A neurenteric cyst located in the spine. + UToronto:chum @@ -394748,8 +396261,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A neurenteric cyst located within the skull. - UToronto:chum A neurenteric cyst located within the skull. + UToronto:chum @@ -394766,8 +396279,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. - UToronto:chum Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. + UToronto:chum @@ -394821,14 +396334,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com NCIT:C2916 - Carcinoma - NCIT:C2916 - - - - - HPO:probinson A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). + HPO:probinson @@ -394846,11 +396353,11 @@ interaction. This feature is an impairment of this reflex, manifested as the com Malformations of the tricuspid valve include a wide range of morphologic features that can be divided into two main groups: those in which the primary lesion is downward displacement of the basal attachment of the mural and septal (or both) leaflets, known as Ebstein's malformation (1), and those without downward displacement but with deformation of the leaflets and the tension apparatus, an arrangement described as dysplasia. In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae. - PMID:2007717 - PMID:26059011 - HPO:probinson - UToronto:chum + UToronto:chum + PMID:26059011 + PMID:2007717 A congenital malformation of the tricuspid valve characterized by leaflet deformation. + HPO:probinson @@ -394867,9 +396374,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. - UToronto:chum PMID:2521673 HPO:probinson + UToronto:chum @@ -394905,8 +396412,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. - UToronto:chum Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. + UToronto:chum @@ -394925,7 +396432,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com A teratoma arising in the sacro-coccygeal region. - UToronto:chum + UToronto:chum A teratoma arising in the sacro-coccygeal region. @@ -395081,8 +396588,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Bergmeister papilla - Persistanced of a posterior remnant of the hyaloid artery located at the optic disc. HPO:probinson + Persistanced of a posterior remnant of the hyaloid artery located at the optic disc. @@ -395247,8 +396754,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Timo cyst - PMID:19205594 - UToronto:chum + PMID:19205594 + UToronto:chum A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. @@ -395267,11 +396774,11 @@ interaction. This feature is an impairment of this reflex, manifested as the com Single-twin demise - HPO:jdavis - PMID:10732306 - PMID:2187353 - PMID:2704493 - PMID:9699754 + HPO:jdavis + PMID:10732306 + PMID:2187353 + PMID:2704493 + PMID:9699754 PMID:24361180 Loss of one twin occurring after midgestation (17 weeks gestation). @@ -395408,9 +396915,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. - An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. - PMID:25148116 HPO:probinson + PMID:25148116 + An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. @@ -395456,9 +396963,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis. + HPO:probinson Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis. PMID:6353041 - HPO:probinson @@ -395476,7 +396983,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. - UToronto:chum + UToronto:chum @@ -395494,10 +397001,10 @@ interaction. This feature is an impairment of this reflex, manifested as the com Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. + PMID:26929770 + HPO:probinson + PMID:24447956 Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. - PMID:26929770 - HPO:probinson - PMID:24447956 @@ -395569,8 +397076,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com PMID:19240824 - UToronto:chum Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. + UToronto:chum @@ -395783,8 +397290,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. - Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. PMID:23248551 + Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. UToronto:chum @@ -395802,8 +397309,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com HPO:probinson - PMID:12970121 An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. + PMID:12970121 PMID:15943976 @@ -395820,8 +397327,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. - HPO:probinson A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. + HPO:probinson @@ -395837,9 +397344,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. - PMID:28487810 - HPO:probinson An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. + HPO:probinson + PMID:28487810 @@ -395855,9 +397362,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com An increased concentration of interleukin-6 in the circulation. - PMID:9883970 An increased concentration of interleukin-6 in the circulation. HPO:probinson + PMID:9883970 @@ -395879,9 +397386,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Amnestic aphasia + HPO:probinson + PMID:18348092 An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. - PMID:18348092 - HPO:probinson @@ -395900,8 +397407,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com UToronto:chum - PMID:25821300 A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. + PMID:25821300 @@ -395919,9 +397426,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com Perceived flashes of light. + PMID:10506812 HPO:probinson Perceived flashes of light. - PMID:10506812 @@ -395956,8 +397463,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com HPO:probinson - PMID:15256605 Blockage of the external auditory canal by a buildup of earwax. + PMID:15256605 @@ -395974,8 +397481,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com This feature is not necessarily associated with impacted cerumen, which if present should be coded separately. - An increased quantity of earwax. PMID:probinson + An increased quantity of earwax. @@ -395993,8 +397500,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Abnormal cerumen colour - An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. HPO:probinson + An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. @@ -396010,7 +397517,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. - HPO:probinson + HPO:probinson A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. @@ -396030,7 +397537,7 @@ interaction. This feature is an impairment of this reflex, manifested as the com A tumor originating in the jaw (mandible or maxilla). - HPO:probinson + HPO:probinson A tumor originating in the jaw (mandible or maxilla). @@ -396065,9 +397572,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. - An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. - PMID:15198367 HPO:probinson + PMID:15198367 + An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. @@ -396103,8 +397610,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com Increased C peptide level - An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. HPO:probinson + An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. @@ -396121,9 +397628,9 @@ interaction. This feature is an impairment of this reflex, manifested as the com A diminished volume of the central part of the bed nucleus of the stria terminalis. + A diminished volume of the central part of the bed nucleus of the stria terminalis. PMID:7477289 HPO:probinson - A diminished volume of the central part of the bed nucleus of the stria terminalis. @@ -396140,8 +397647,8 @@ interaction. This feature is an impairment of this reflex, manifested as the com PMID:12600711 - HPO:probinson The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. + HPO:probinson @@ -396161,10 +397668,10 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. - PMID:23960302 HPO:probinson - PMID:16156241 Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. + PMID:23960302 + PMID:16156241 @@ -396209,7 +397716,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Lower eyelid retraction - + SNOMEDCT_US:700264006 UMLS:C1861656 This is is not to be confused with ectropion (eyelid eversion). Lower eyelid retraction presents clinically with scleral show; round, sad-looking eyes; lateral canthal tendon laxity; and symptoms of ocular irritation, including photophobia, excessive tearing, and nocturnal lagophthalmos. @@ -396253,10 +397760,10 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. - HPO:probinson + PMID:26273150 PMID:22016269 Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. - PMID:26273150 + HPO:probinson @@ -396289,8 +397796,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Nails whose growth is quicker than normal. - HPO:probinson Nails whose growth is quicker than normal. + HPO:probinson @@ -396306,8 +397813,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Nail whose growth pattern or speed deviates from normal. - HPO:probinson Nail whose growth pattern or speed deviates from normal. + HPO:probinson @@ -396323,8 +397830,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. - HPO:probinson The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. + HPO:probinson @@ -396366,7 +397873,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. - HPO:probinson + HPO:probinson @@ -396406,8 +397913,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Tonsillar hypertrophy + HPO:probinson Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. - HPO:probinson @@ -396447,7 +397954,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Hypoplastic tonsils - HPO:probinson + HPO:probinson Lack of observable tonsillar tissue. @@ -396466,8 +397973,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Orange tonsils - HPO:probinson PMID:19470903 + HPO:probinson A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. @@ -396485,8 +397992,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue. - HPO:probinson A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue. + HPO:probinson @@ -396518,8 +398025,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Beaked nails may be observed with conditions including hyperparathyroidism, renal failure, psoriasis, and systemic sclerosis. - Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. HPO:probinson + Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. @@ -396629,8 +398136,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Thick sclera - HPO:probinson Increased dimension of the sclera in the anterior-posterior axis. + HPO:probinson @@ -396681,7 +398188,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Eyelid fasciculation - + UMLS:C4280682 Eyelid fluttering Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. @@ -396690,10 +398197,10 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Muscle twitches in eye lid - Muscle twitches in eye lid + Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. + HPO:probinson - - + Muscle twitches in eyelid @@ -396702,10 +398209,10 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t - HPO:probinson - Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. + Muscle twitches in eye lid - + + @@ -396746,8 +398253,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An anomalous (adventitious) sound produced by the breathing process. - An anomalous (adventitious) sound produced by the breathing process. HPO:probinson + An anomalous (adventitious) sound produced by the breathing process. @@ -396768,8 +398275,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Crepitations - Abnormal breath sounds characterized by discontinuous clicking or rattling. UToronto:chum + Abnormal breath sounds characterized by discontinuous clicking or rattling. @@ -396818,18 +398325,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Neck pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. - - Neck pain - - - - An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. UToronto:chum + + Neck pain + + + + @@ -396896,16 +398403,16 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Wrist pain - Wrist pain + An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. + UToronto:chum - - + - UToronto:chum - An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. + Wrist pain - + + @@ -396920,18 +398427,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. Finger pain - - UToronto:chum - An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. - - - Finger pain + + An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. + UToronto:chum + + + @@ -396945,18 +398452,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. Hip pain - - An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. - UToronto:chum - - - Hip pain + + UToronto:chum + An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. + + + @@ -396978,16 +398485,16 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t - Pain under knee cap + UToronto:chum + An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. - - + - An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. - UToronto:chum + Pain under knee cap - + + @@ -397022,18 +398529,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Toe pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. - - Toe pain - - - - UToronto:chum An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. + + Toe pain + + + + @@ -397135,10 +398642,10 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. - Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. + HPO:probinson PMID:25587479 PMID:12786876 - HPO:probinson + Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. @@ -397174,8 +398681,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An anomaly of venous function. - An anomaly of venous function. HPO:probinson + An anomaly of venous function. @@ -397192,9 +398699,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. + PMID:24085809 An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. HPO:probinson - PMID:24085809 @@ -397241,8 +398748,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. - HPO:probinson An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. + HPO:probinson @@ -397258,8 +398765,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). - Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). HPO:probinson + Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). @@ -397275,8 +398782,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). - Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). HPO:probinson + Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). @@ -397292,13 +398799,15 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t SNOMEDCT_US:14821001 SNOMEDCT_US:24614000 UMLS:C0266642 + Fyler:0190 + Fyler:190 Heterotaxia An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. + HPO:probinson An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. PMID:21731561 - HPO:probinson @@ -397336,9 +398845,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. + HPO:probinson PMID:24600153 A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. - HPO:probinson @@ -397355,9 +398864,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. + PMID:25376120 A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. HPO:probinson - PMID:25376120 @@ -397373,8 +398882,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. - An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. HPO:probinson + An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. PMID:12928305 @@ -397394,9 +398903,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Several behaviors, besides psychoactive substance ingestion, produce short-term reward that may engender persistent behavior despite knowledge of adverse consequences, i.e., diminished control over the behavior. + PMID:20560821 HPO:probinson A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains. - PMID:20560821 @@ -397414,7 +398923,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Top1 antibody positivity - PMID:16112028 + PMID:16112028 The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. @@ -397469,9 +398978,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Widening of the nostrils upon inhalation as a manifestation of respiratory distress. - PMID:25274969 - UToronto:chum Widening of the nostrils upon inhalation as a manifestation of respiratory distress. + PMID:25274969 + UToronto:chum @@ -397489,7 +398998,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Chest retractions - PMID:25274969 + PMID:25274969 A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. @@ -397506,8 +399015,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Abnormal increased size of the elbow joint. - HPO:probinson Abnormal increased size of the elbow joint. + HPO:probinson @@ -397523,8 +399032,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Abnormally increased size of the knee joint. + HPO:probinson Abnormally increased size of the knee joint. - HPO:probinson @@ -397544,17 +399053,17 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. - Misaligned eyes + The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. + HPO:probinson + PMID:7795293 - - + - HPO:probinson - PMID:7795293 - The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. + Unequal eye height - + + Eyes at different heights @@ -397563,7 +399072,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t - Unequal eye height + Misaligned eyes @@ -397601,7 +399110,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormality of XY sexual development characterized by the absence of both testes at birth. - HPO:probinson + HPO:probinson An abnormality of XY sexual development characterized by the absence of both testes at birth. @@ -397653,8 +399162,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Abnormality of Z-joint - HPO:probinson An anomaly of the small joints located between and behind adjacent vertebrae. + HPO:probinson @@ -397702,8 +399211,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. + HPO:probinson Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. - HPO:probinson @@ -397739,7 +399248,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. - PMID:17444587 + PMID:17444587 @@ -397755,8 +399264,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. - NIHR:ldaugherty PMID:24121092 + NIHR:ldaugherty Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. @@ -397816,8 +399325,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Obstructive deficit on pulmonary function test - NIHR:ldaugherty FEV1/FVC less than 0.7 (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). + NIHR:ldaugherty @@ -397834,8 +399343,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Abnormal pulmonary function test - Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. HPO:probinson + Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. @@ -397910,10 +399419,11 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Coronary artery ectasia Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. Coronary artery dilatation + Fyler:3129 - PMID:28374180 HPO:probinson + PMID:28374180 Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. @@ -397933,8 +399443,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. - Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. PMID:22108232 + Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. @@ -397952,8 +399462,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Feeding problem necessitating gastrojejunal tube feeding. - PMID:11827911 Feeding problem necessitating gastrojejunal tube feeding. + PMID:11827911 @@ -398006,8 +399516,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A anomaly in the rate of apoptosis in lymphocytes. - HPO:probinson A anomaly in the rate of apoptosis in lymphocytes. + HPO:probinson @@ -398082,8 +399592,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t White matter hyperintensity - PMID:15576652 A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. + PMID:15576652 @@ -398127,16 +399637,16 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. - DWMH + PMID:15576652 + Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. - - + - Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. - PMID:15576652 + DWMH - + + @@ -398149,9 +399659,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. - PMID:20004088 + PMID:20004088 + NIHR:ldaugherty Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. - NIHR:ldaugherty @@ -398166,7 +399676,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. - NIHR:ldaugherty + NIHR:ldaugherty No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. @@ -398235,8 +399745,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Pruritus on foot Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot. - Itchy foot Itchy feet + Itchy foot Itchy feet @@ -398272,9 +399782,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t The palmomental reflex is often present in normal people and may be absent in disease states. Testing merely for the presence or absence of the reflex therefore lacks both specificity and sensitivity. A strong, sustained, and easily repeatable contraction of the mentalis muscle, which can be elicited by stimulation of areas other than the palm, is more likely to indicate cerebral damage. - HPO:probinson A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. - PMID:12122165 + PMID:12122165 + HPO:probinson @@ -398289,9 +399799,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. - PMID:12700289 - HPO:probinson A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. + HPO:probinson + PMID:12700289 @@ -398307,8 +399817,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. + HPO:probinson A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. - HPO:probinson @@ -398369,8 +399879,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Anti-liver cytosol antibody-1 positivity - PMID:7806169 The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. + PMID:7806169 @@ -398387,7 +399897,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Two clitorides located side by side. - PMID:23650202 + PMID:23650202 @@ -398435,7 +399945,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Some rugae formation is typically found on the labia majora, but less than on the scrotum. - PMID:23650202 + PMID:23650202 Marked rugae formation of the skin of the labia majora. @@ -398725,8 +400235,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Segmental additional circular muscle coat - PMID:26078585 PMID:18788889 + PMID:26078585 Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. @@ -398980,20 +400490,21 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t The pars membranacea is the last portion of the septum formed in the fetus, is lo-cated between the left and right ventricles in front of the tricuspid valve, and between the left ventricle and the right atrium, behind the tricuspid valve. It lies in close proximity to the aortic and atrioventricular valves and is considered to be the weakest part of the ventricular septum. The aneurysms of the membranous portion usually measure 1 to 2 cm in all diameters and their walls are composed of fibrous tissue forming thick trabeculae when seen from the left ventricle. They can project into different portions of the right ventricle or right atrium. Interventricular septum membranous part aneurysm Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). + Fyler:2346 Aneurysm of the membranous ventricular septum - PMID:5846101 - PMID:6018320 - Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). + Interventricular septum membranous part aneurysm + ORCID:0000-0001-5208-3432 - + - orcid.org/0000-0001-5208-3432 - Interventricular septum membranous part aneurysm + PMID:6018320 + Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). + PMID:5846101 - + @@ -399010,8 +400521,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Aneurysm of the muscular ventricular septum - PMID:5846101 Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). + PMID:5846101 @@ -399022,8 +400533,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t obsolete Abnormal pupillary morphology - 2017-04-18T12:39:46Z true + HP:0000615 @@ -399206,6 +400717,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t 2017-04-18T13:38:34Z robinp An abnormality of the structure of the pulmonary veins. + Fyler:3000 @@ -399336,8 +400848,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). - A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). PMID:25780588 + A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). @@ -399355,10 +400867,10 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Vaulted pontine tegmentum - An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. PMID:17690130 PMID:18842761 PMID:25691269 + An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. @@ -399406,9 +400918,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. + A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. PMID:27388694 ORCID:0000-0003-0169-8159 - A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. @@ -399446,8 +400958,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t ORCID:0000-0003-0169-8159 - PMID:24123328 An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). + PMID:24123328 @@ -399481,9 +400993,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. - PMID:27284435 - NCIT:C1882229 A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. + NCIT:C1882229 + PMID:27284435 @@ -399585,8 +401097,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. - Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. PMID:21994886 + Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. @@ -399604,8 +401116,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A microbial infection is often for suppurative cholangitis, but the change also occurs in the presence of sterile bile, particularly after bile extravasation. The release of chemokines or cytokines is the likely cause in some cases. - PMID:21994886 Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess). + PMID:21994886 @@ -399623,8 +401135,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. - PMID:22333006 Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. + PMID:22333006 @@ -399641,8 +401153,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. - Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. PMID:21994886 + Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. @@ -399717,8 +401229,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present. - PMID:24265565 A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present. + PMID:24265565 @@ -399775,18 +401287,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t CSF rhinorrhoea CSF rhinorrhea or liquorrhoea commonly occurs following head trauma (fronto-basal skull fractures), as a result of intracranial surgery, or destruction lesions. A spinal fluid leak from the intracranial space to the nasal respiratory tract is potentially very serious because of the risk of an ascending infection which could produce fulminant meningitis. - - PMID:17767107 - Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. - - - CSF rhinorrhoea + + Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. + PMID:17767107 + + + @@ -399861,8 +401373,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Areflexia that is limited to one side of the body. - PMID:6722516 Areflexia that is limited to one side of the body. + PMID:6722516 @@ -399983,8 +401495,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. - PMID:27500096 Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. + PMID:27500096 @@ -400084,8 +401596,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Multiple defects in the atrial septum. - PMID:18559707 Multiple defects in the atrial septum. + PMID:18559707 @@ -400105,8 +401617,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Eccrine syringofibroadenomatous hyperplasia - NCIT:CL017969 PMID:26937300 + NCIT:CL017969 Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA). @@ -400175,8 +401687,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t NCIT:C6559 - Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. PMID:16702501 + Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. @@ -400194,9 +401706,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Cylindromas can be single or multiple and commonly involve the scalp (turban tumor) and face. Multiple cylindromas can have a syndromic association as seen in Brooke-Spiegler syndrome and familial cylindromatosis. + NCIT:C27094 A benign skin adnexal tumor of eccrine differentiation. PMID:27294061 - NCIT:C27094 @@ -400215,8 +401727,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t PMID:25069607 - NCIT:C27200 A malignant neoplasm of the stomach that grows submocosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible. + NCIT:C27200 @@ -400237,8 +401749,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Snail-like pelvis - The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. PMID:3799723 + The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. @@ -400255,9 +401767,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. + A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. PMID:24339047 PMID:11694546 - A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. @@ -400277,8 +401789,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Plasma lactescence - PMID:15368719 Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. + PMID:15368719 @@ -400296,16 +401808,16 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Increased plasma CEA - Increased plasma CEA + PMID:11274010 + An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. - - + - An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. - PMID:11274010 + Increased plasma CEA - + + @@ -400321,8 +401833,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. - An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. PMID:16343244 + An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. @@ -400345,8 +401857,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol. - PMID:14749226 A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol. + PMID:14749226 @@ -400401,8 +401913,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Plasma IGFALS is positively associated with prostate cancer risk. - A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. PMID:20142246 + A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. @@ -400451,18 +401963,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. Insulin-like factor 3 (INSL3) is a peptide hormone produced in leydig cells of the testes. Its role in the adult male is unknown but INSL3 and its receptor RXFP2 have been linked to bone cell differentiation. It is speculated that low levels of INSL3 could be responsible for low bone mineral density in patients with primary osteoporosis and Klinefelter Syndrome. - - Reduced plasma INSL3 level - - - - Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. PMID:24640568 + + Reduced plasma INSL3 level + + + + @@ -400478,7 +401990,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Maturation arrest (MA) of spermatogenesis is diagnosed on histology as interruption of spermatogenesis before the final stage without impairment of Sertoli or Leydig cells. It is considered a condition of irreversible or absolute infertility. - PMID:21684558 + PMID:21684558 Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. @@ -400515,8 +402027,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Maturation arrest of spermatogenesis at spermatid stage - A type of maturation arrest in which spermatids are detected without spermatozoa. PMID:21684558 + A type of maturation arrest in which spermatids are detected without spermatozoa. @@ -400549,8 +402061,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. - Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. PMID:26222562 + Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. @@ -400567,8 +402079,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. - A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. PMID:8387724 + A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. @@ -400586,8 +402098,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. - A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. PMID:18554391 + A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. @@ -400617,8 +402129,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Agenesis of the soft palate - A developmental defect characterized by lack of a soft palate. PMID:11420024 + A developmental defect characterized by lack of a soft palate. @@ -400637,8 +402149,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. - An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. PMID:17403946 + An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. @@ -400822,8 +402334,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. - PMID:10362969 This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. + PMID:10362969 @@ -400870,8 +402382,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. - PMID:10362969 Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. + PMID:10362969 @@ -401309,8 +402821,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Persistent vaginal dryness. - Persistent vaginal dryness. PMID:21702402 + Persistent vaginal dryness. @@ -401508,8 +403020,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. - Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. PMID:22693172 + Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. @@ -401614,8 +403126,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. - PMID:23771171 An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. + PMID:23771171 @@ -401671,8 +403183,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. - PMID:19283655 As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. + PMID:19283655 @@ -401702,8 +403214,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. - A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. PMID:17467434 + A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. @@ -401739,9 +403251,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. + PMID:17467434 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. PMID:24827036 - PMID:17467434 @@ -401782,8 +403294,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. - PMID:17467434 A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. + PMID:17467434 @@ -401897,7 +403409,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. - PMID:12814644 + PMID:12814644 @@ -401938,8 +403450,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A developmental anomaly of the heart characterizedby the presence of three atria because the left atrium is divided by an abnormal septum. - PMID:22379596 A developmental anomaly of the heart characterizedby the presence of three atria because the left atrium is divided by an abnormal septum. + PMID:22379596 @@ -402004,7 +403516,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t - + 2017-06-10T15:30:13Z peter Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. @@ -402023,8 +403535,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). - A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). PMID:22145138 + A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). @@ -402149,8 +403661,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. - PMID:16776766 An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. + PMID:16776766 @@ -402168,16 +403680,16 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t VMA - VMA + Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. + PMID:24053995 - - + - PMID:24053995 - Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. + VMA - + + @@ -402193,16 +403705,16 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. - VMT + PMID:24053995 + Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. - - + - Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. - PMID:24053995 + VMT - + + @@ -402245,9 +403757,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Membranous anomaly - Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. - PMID:20513134 PMID:21921955 + PMID:20513134 + Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. @@ -402302,8 +403814,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Decreased platelet cell membrane concentration of glycoprotein Ib. - PMID:11157507 Decreased platelet cell membrane concentration of glycoprotein Ib. + PMID:11157507 @@ -402322,8 +403834,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Caroticocavernous fistula - PMID:23571267 Ab abnormal connection between a carotid artery and the cavernous sinus. + PMID:23571267 @@ -402340,8 +403852,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. - PMID:22353005 An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. + PMID:22353005 @@ -402371,9 +403883,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t The word myelo-kathexis is derived from the Greek words for marrow (myelo) retention (kathexis). Unlike other forms of severe neutropenia, myelokathexis is characterized by granulocytic hyperplasia in the bone marrow, which contains neutrophils with cytoplasmic vacuoles, nuclear hypersegmentation, and pyknotic nuclear lobes connected by thin filaments. - Impaired egress of mature neutrophils from bone marrow causing neutropenia. - PMID:25662009 PMID:10607719 + PMID:25662009 + Impaired egress of mature neutrophils from bone marrow causing neutropenia. @@ -402390,8 +403902,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). - An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). PMID:24123328 + An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). @@ -402409,8 +403921,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t In the involuntary pharyngeal phase, the soft palate rises to close the nasopharynx and prevent nasal regurgitations. The hyoid bone rises, bringing the larynx up, while the epiglottis closes the entrance to the larynx. The base of the tongue contacts the pharyngeal wall, at the same time as the hyoid moves forward, coinciding with the relaxation of the cricopharyngeus muscle and the opening of the upper esophageal sphincter. - PMID:27785002 Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. + PMID:27785002 @@ -402468,8 +403980,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). - PMID:27091239 Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). + PMID:27091239 @@ -402501,8 +404013,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t In contrast to paramyotonia congenita or hyperkalaemic periodic paralysis, potassium-aggravated myotonias (PAM) patients show no muscle weakness and hardly any cold sensitivity. However, they show an aggravation of their myotonia after ingestion of potassium, which distinguishes them from patients with chloride channelopathies. - PMID:19472919 Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. + PMID:19472919 @@ -402520,8 +404032,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A pregnancy that extends to 42 weeks of gestation or beyond. - PMID:24753906 A pregnancy that extends to 42 weeks of gestation or beyond. + PMID:24753906 @@ -402590,8 +404102,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. - An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. PMID:12966518 + An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. PMID:12525546 @@ -402633,8 +404145,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. - Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. PMID:15668452 + Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. @@ -402651,8 +404163,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Head is bent in the posterior direction in a permanent fashion. - Head is bent in the posterior direction in a permanent fashion. PMID:25288843 + Head is bent in the posterior direction in a permanent fashion. @@ -402710,8 +404222,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. - PMID:20054043 Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. + PMID:20054043 @@ -402753,8 +404265,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormality of the concentration of pregnenolone in the blood. - An abnormality of the concentration of pregnenolone in the blood. PMID:24849255 + An abnormality of the concentration of pregnenolone in the blood. @@ -402927,8 +404439,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. - PMID:26079824 A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. + PMID:26079824 @@ -402964,8 +404476,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. - PMID:26079824 A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. + PMID:26079824 @@ -403001,8 +404513,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. - A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. PMID:26079824 + A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. @@ -403021,8 +404533,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Samples from patients with Wolman Disease display extremely low or unmeasurable levels of lysosomal acid lipase (LAL) activity. Samples from patients with cholesteryl ester storage disease can display residual activities in the 5 to ten percent range. - Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. PMID:22227072 + Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. @@ -403093,8 +404605,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Reduction in the activity of lipoprotein lipase in the blood. - PMID:18194851 Reduction in the activity of lipoprotein lipase in the blood. + PMID:18194851 @@ -403371,8 +404883,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. - PMID:20082456 An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. + PMID:20082456 @@ -403389,8 +404901,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t The length of the incisura from the upper to lower border is greater than that observed in the average population. - The length of the incisura from the upper to lower border is greater than that observed in the average population. PMID:20082456 + The length of the incisura from the upper to lower border is greater than that observed in the average population. @@ -403425,8 +404937,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Width of the incisura from the anterior to posterior border less than that observed in the average population. - Width of the incisura from the anterior to posterior border less than that observed in the average population. PMID:20082456 + Width of the incisura from the anterior to posterior border less than that observed in the average population. @@ -403463,18 +404975,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A morphological abnor,mality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). Squaring of the scapula - - PMID:24706940 - A morphological abnor,mality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). - - - Squaring of the inferior scapulae + + PMID:24706940 + A morphological abnor,mality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). + + + @@ -403636,8 +405148,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Enlargement of the lip typically due to fluid buildup or inflammation. + ORCID:0000-0001-5208-3432 Enlargement of the lip typically due to fluid buildup or inflammation. - http://orcid.org/0000-0001-5208-3432 @@ -403694,8 +405206,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. - A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. PMID:24219484 + A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. @@ -403712,18 +405224,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Itchy palm Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. - - http://orcid.org/0000-0001-5208-3432 - Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. - - - Itchy palm + + ORCID:0000-0001-5208-3432 + Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. + + + @@ -403739,18 +405251,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Metallic taste in mouth Metallic taste - - A distortion of the sense of taste, often characterized by the sensation of a metallic taste. - PMID:21075995 - - - Metallic taste in mouth + + PMID:21075995 + A distortion of the sense of taste, often characterized by the sensation of a metallic taste. + + + Metallic taste @@ -403819,8 +405331,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. - An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. PMID:23125071 + An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. @@ -403855,8 +405367,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. - PMID:23125071 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. + PMID:23125071 @@ -403874,9 +405386,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. - An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. - PMID:17082338 PMID:23125071 + PMID:17082338 + An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. @@ -404012,8 +405524,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. - http://orcid.org/0000-0001-5208-3432 Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. + ORCID:0000-0001-5208-3432 @@ -404030,8 +405542,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). - http://orcid.org/0000-0001-5208-3432 Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). + ORCID:0000-0001-5208-3432 @@ -404049,8 +405561,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. + ORCID:0000-0001-5208-3432 PMID:12121224 - http://orcid.org/0000-0001-5208-3432 @@ -404069,8 +405581,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Reduced IL2RA upregulation upon TCR activation + ORCID:0000-0001-5208-3432 Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). - http://orcid.org/0000-0001-5208-3432 @@ -404137,8 +405649,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage - A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage PMID:28238385 + A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage @@ -404414,9 +405926,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. - PMID:21600032 PMID:14708109 Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. + PMID:21600032 @@ -404499,6 +406011,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t 2017-08-13T21:38:04Z peter + Fyler:3020 + Fyler:3011 Increase in size of the left atrium. Enlarged heart left atrium @@ -404534,8 +406048,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. - Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. PMID:19398672 + Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. @@ -404580,8 +406094,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A deviation from the normal concentration of properdin in the blood. - A deviation from the normal concentration of properdin in the blood. PMID:16301317 + A deviation from the normal concentration of properdin in the blood. @@ -404600,9 +406114,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. + PMID:24402839 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. PMID:26811161 - PMID:24402839 @@ -404906,7 +406420,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A nonparallel arrangement of cardiac myocytes. - PMID:7890275 + PMID:7890275 @@ -405021,8 +406535,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. - PMID:28456755 A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. + PMID:28456755 @@ -405039,18 +406553,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t TTR cardiac amyloidosis A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is indentified by immunohistochemical staining. - - A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is indentified by immunohistochemical staining. - PMID:22949539 - - - TTR cardiac amyloidosis + + PMID:22949539 + A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is indentified by immunohistochemical staining. + + + @@ -405082,8 +406596,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. - PMID:10435025 A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. + PMID:10435025 @@ -405139,9 +406653,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and action that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. + PMID:22311886 PMID:7788887 A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and action that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. - PMID:22311886 @@ -405201,8 +406715,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. - PMID:20167932 Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. + PMID:20167932 @@ -405219,8 +406733,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. - PMID:25196244 Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. + PMID:25196244 @@ -405304,8 +406818,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. - An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. PMID:11292918 + An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. @@ -405357,20 +406871,22 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t peter D-loop transposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. + Fyler:700 D-TGA + Fyler:0700 - - D-TGA - - - - PMID:25082585 A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. + + D-TGA + + + + @@ -405421,18 +406937,18 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Calcified amorphous tumour of the heart A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. - - Calcified amorphous tumour of the heart - - - - PMID:24932362 A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. + + Calcified amorphous tumour of the heart + + + + @@ -405446,9 +406962,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An unpleasant sensation of tightness or pressure in the chest. - http://orcid.org/0000-0001-5208-3432 - PMID:16990972 An unpleasant sensation of tightness or pressure in the chest. + PMID:16990972 + ORCID:0000-0001-5208-3432 @@ -405473,7 +406989,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Otitis media characterized by thick or sticky fluid behind the tympanic membrane. - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -405655,8 +407171,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A neoplasm that affects the hard palate, soft palate, or uvula. - A neoplasm that affects the hard palate, soft palate, or uvula. NCIT:C4402 + A neoplasm that affects the hard palate, soft palate, or uvula. @@ -405909,8 +407425,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. - PMID:27107657 The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. + PMID:27107657 @@ -405928,8 +407444,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Micromegakaryocytes are characteristic of myelodysplastic syndromebut may be seen in other conditions. - The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. PMID:27107657 + The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. @@ -406072,8 +407588,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormally decreased proportion of naive T cells relative to the total number of T cells. - HPO:probinson An abnormally decreased proportion of naive T cells relative to the total number of T cells. + HPO:probinson @@ -406107,9 +407623,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. - An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. PMID:22294241 PMID:16285891 + An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. @@ -406297,9 +407813,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). - An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). - PMID:15371947 PMID:18684881 + PMID:15371947 + An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). @@ -406336,8 +407852,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t - PMID:19278419 An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56 the adhesion molecule mediating homotypic adhesion, and is used as a functional marker for NK cells. + PMID:19278419 @@ -406351,6 +407867,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t 2017-09-04T15:22:36Z peter + Fyler:4013 Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. @@ -406407,9 +407924,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. - PMID:24246681 - An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. RGD:sjwang + An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. + PMID:24246681 @@ -406465,16 +407982,16 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Increased BMI - Increased BMI + PMID:17973940 + Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. - - + - Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. - PMID:17973940 + Increased BMI - + + @@ -406515,10 +408032,10 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Laser pointer-induced maculopathy - PMID:25323644 - A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity. - PMID:28611647 ORCiD:0000-0002-2244-7917 + PMID:28611647 + A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity. + PMID:25323644 @@ -406565,8 +408082,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Reduced size of the cerebellar cortex. - RGD:gth Reduced size of the cerebellar cortex. + RGD:gth @@ -406584,8 +408101,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Abnormal circulating beta-CTx level - RGD:sjwang A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. + RGD:sjwang PMID:15309383 @@ -406609,8 +408126,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. - RGD:sjwang A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. + RGD:sjwang @@ -406646,10 +408163,10 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Osteocalcin, also known as bone gamma-carboxyglutamic acid (Gla) protein (BGP), is the most abundant noncollagenous protein of bone matrix. It is released by osteoblasts during bone formation and binds with the mineralized bone matrix. Osteocalcin has an endocrine function, regulating glucose and lipid homeostasis. - PMID:25577163 + A deviation from the normal concentration of osteocalcin in the blood circulation. RGD:sjwang PMID:23737779 - A deviation from the normal concentration of osteocalcin in the blood circulation. + PMID:25577163 @@ -406684,8 +408201,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A reduced level of osteocalcin in the blood. - RGD:sjwang A reduced level of osteocalcin in the blood. + RGD:sjwang @@ -406832,9 +408349,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. - PMID:23555012 PMID:12855585 A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. + PMID:23555012 @@ -406846,6 +408363,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t obsolete Abnormal tricuspid valve morphology true + HP:0001702 @@ -406916,8 +408434,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An increase in the diameter of the ring (annulus) of the tricuspid valve. - PMID:3958362 An increase in the diameter of the ring (annulus) of the tricuspid valve. + PMID:3958362 @@ -407006,8 +408524,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t An abnormal increase in the amount of subcutaneous fat in the legs. - PMID:24788242 An abnormal increase in the amount of subcutaneous fat in the legs. + PMID:24788242 @@ -407024,8 +408542,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple). shiny, isolated, flat-topped papules and plaques. - PMID:22356325 Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple). shiny, isolated, flat-topped papules and plaques. + PMID:22356325 @@ -407060,8 +408578,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A cystic lesions that forms a benign tumor of an apocrine sweat gland. - NCIT:C43342 PMID:17406184 + NCIT:C43342 A cystic lesions that forms a benign tumor of an apocrine sweat gland. @@ -407129,8 +408647,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. - A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. NCIT:C3377 + A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. @@ -407147,8 +408665,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]. - NCIT:C4882 A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]. + NCIT:C4882 @@ -407165,8 +408683,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. - A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. PMID:27298930 + A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. @@ -407195,9 +408713,9 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. - A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. - PMID:27134598 NCIT:C5344 + PMID:27134598 + A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. @@ -407245,8 +408763,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. - PMID:23902698 A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. + PMID:23902698 @@ -407263,8 +408781,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. - A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. PMID:23902698 + A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. @@ -407311,8 +408829,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger. - Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger. PMID:23902698 + Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger. @@ -407329,8 +408847,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. - Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. PMID:23902698 + Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. @@ -407347,8 +408865,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A benign cartilaginous tumors of the lung. - PMID:27602219 A benign cartilaginous tumors of the lung. + PMID:27602219 @@ -407365,8 +408883,8 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t A cognitive or behavioral change that lasts for at least 30 minutes, with evidence of seizures on electroencephalogram. - PMID:17805245 A cognitive or behavioral change that lasts for at least 30 minutes, with evidence of seizures on electroencephalogram. + PMID:17805245 @@ -407391,6 +408909,7 @@ boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance t obsolete Abnormal mitral valve morphology true + HP:0001633 @@ -407553,8 +409072,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. - PMID:26618117 A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. + PMID:26618117 @@ -407589,8 +409108,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. - PMID:26618117 A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. + PMID:26618117 @@ -407607,18 +409126,18 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti CSWS Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. - - PMID:28654799 - Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. - - - CSWS + + PMID:28654799 + Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. + + + @@ -407633,8 +409152,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Epithelial neoplasm is a benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. - NCIT:C3709 A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]. + NCIT:C3709 @@ -407670,8 +409189,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. - Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. PMID:24777667 + Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. @@ -407700,8 +409219,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. - PMID:21128317 NCIT:C41247 + PMID:21128317 @@ -407730,8 +409249,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. - PMID:28501848 A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. + PMID:28501848 @@ -407957,8 +409476,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. - An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. PMID:26544946 + An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. @@ -407988,8 +409507,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti An essential feature of successful mammalian reproduction is the fusion of a sperm with a metaphase II oocyte. Oocytes are first arrested at prophase I and resume meiosis in response to luteinizing hormone (LH). Following spindle assembly and extrusion of the first polar body, oocytes are again arrested at metaphase II until fertilization. - Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. PMID:27273344 + Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. @@ -408025,8 +409544,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. - Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. PMID:24574560 + Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. @@ -408043,8 +409562,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electorn microscopy. - PMID:3224502 An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electorn microscopy. + PMID:3224502 @@ -408074,9 +409593,9 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. + A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. NCIT:C7735 PMID:11444201 - A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. @@ -408114,9 +409633,9 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria. - PMID:20181155 - A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria. NCIT:C5932 + A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria. + PMID:20181155 @@ -408152,8 +409671,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti PMID:24376301 - Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. NCIT:C3146 + Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. @@ -408270,8 +409789,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti This feature is tested on the right and left side and if positive, each feature contributes one point to the Beighton score. - An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. PMID:24358988 + An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. @@ -408300,8 +409819,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). - PMID:27358682 Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). + PMID:27358682 @@ -408366,8 +409885,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Presence of IgG antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. - PMID:24160488 Presence of IgG antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. + PMID:24160488 @@ -408384,8 +409903,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Presence of complement C3 in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. - PMID:24160488 Presence of complement C3 in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. + PMID:24160488 @@ -408402,18 +409921,18 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Myelin-like whorls in vacuolated fibres Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. - - Myelin-like whorls in vacuolated fibres - - - - PMID:18974994 Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. + + Myelin-like whorls in vacuolated fibres + + + + @@ -408440,8 +409959,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. - Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. PMID:22001765 + Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. @@ -408487,8 +410006,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti NCIT:C4469 - A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma. PMID:25387502 + A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma. @@ -408643,6 +410162,7 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti 2017-09-29T11:27:41Z peter An abnormal communication between coronary artery and a cardiac chamber. + Fyler:2233 Coronary cameral fistulas are usually congenital and asymptomatic in majority of patients. @@ -408679,6 +410199,7 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti 2017-09-29T11:31:18Z peter + Fyler:2780 A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. @@ -408697,11 +410218,12 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti 2017-09-29T12:05:45Z peter + Fyler:2240 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. - MP:0011656 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. + MP:0011656 @@ -408733,11 +410255,12 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti 2017-09-29T22:56:16Z peter + Fyler:3817 An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. - An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. Fyler:3817 + An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. @@ -408752,10 +410275,11 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti 2017-09-29T23:10:58Z peter Any structural anomaly of the pulmonary valve leaflets. + Fyler:1652 - Fyler:1652 Any structural anomaly of the pulmonary valve leaflets. + Fyler:1652 @@ -408789,6 +410313,7 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti 2017-09-29T23:13:33Z peter + Fyler:1480 Any structural anomaly of the aortic valve leaflets. @@ -408808,11 +410333,12 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti 2017-09-29T23:18:10Z peter An abnormally increased thickness of a leaflet of the aortic valve. + Fyler:1486 - PMID:9360334 An abnormally increased thickness of a leaflet of the aortic valve. Fyler:1486 + PMID:9360334 @@ -408826,12 +410352,13 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti 2017-09-29T23:21:20Z peter + Fyler:1484 Absent aortic valve A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. - PMID:2274446 Fyler:1484 + PMID:2274446 A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. @@ -408897,8 +410424,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. - As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. PMID:2503273 + As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. @@ -408970,7 +410497,7 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. - PMID:2503273 + PMID:2503273 @@ -409005,8 +410532,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. - PMID:2503273 The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. + PMID:2503273 @@ -409059,8 +410586,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. - In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. PMID:2503273 + In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. @@ -409077,8 +410604,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. - PMID:2503273 An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. + PMID:2503273 @@ -409095,8 +410622,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. - There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. PMID:2503273 + There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. @@ -409113,8 +410640,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. - PMID:2503273 There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. + PMID:2503273 @@ -409131,8 +410658,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. - PMID:2503273 This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. + PMID:2503273 @@ -409149,8 +410676,8 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. - PMID:22529554 A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. + PMID:22529554 @@ -409231,10 +410758,10 @@ ectatic papillary dermal capillaries and postcapillary venules in the upper reti Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia. + Fyler:102 Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia. - Fyler:0102 MP:0011253 - Fyler:102 + Fyler:0102 @@ -409477,9 +411004,9 @@ beating. Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position. + Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position. PMID:21505577 Sanford:krageth - Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position. @@ -409496,9 +411023,9 @@ beating. Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. - PMID:24158023 - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. + PMID:24158023 @@ -409516,18 +411043,18 @@ beating. Shoulder dislocation occurring repeated times. - Multiple shoulder dislocation - - - - - - Shoulder dislocation occurring repeated times. Sanford:krageth + Shoulder dislocation occurring repeated times. PMID:29197942 + + Multiple shoulder dislocation + + + + @@ -409582,16 +411109,16 @@ beating. - Sub-ILM hemorrhage + A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. + PMID:17229799 - - + - PMID:17229799 - A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. + Sub-ILM hemorrhage - + + Sub-inner limiting membrane haemorrhage @@ -409667,8 +411194,8 @@ beating. Faint anterior chamber flare. - Faint anterior chamber flare. PMID:16196117 + Faint anterior chamber flare. @@ -409685,8 +411212,8 @@ beating. Moderate anterior chamber flare (iris and lens details clear). - PMID:16196117 Moderate anterior chamber flare (iris and lens details clear). + PMID:16196117 @@ -409721,8 +411248,8 @@ beating. Intense anterior chamber flare (fibrin/plastic aqueous). - Intense anterior chamber flare (fibrin/plastic aqueous). PMID:16196117 + Intense anterior chamber flare (fibrin/plastic aqueous). @@ -409740,8 +411267,8 @@ beating. An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. - UManchester:psergouniotis PMID:28841851 + ORCID:0000-0003-0986-4123 An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. @@ -409792,8 +411319,8 @@ beating. A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. - A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. PMID:17515479 + A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. @@ -409856,9 +411383,9 @@ beating. Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. - PMID:25187745 - Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. ORCID:0000-0001-5835-5515 + Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. + PMID:25187745 @@ -409907,8 +411434,8 @@ beating. So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. - PMID:23220902 So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. + PMID:23220902 @@ -409934,6 +411461,7 @@ beating. 2017-12-17T01:04:45Z peter + Fyler:2732 The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. @@ -409974,8 +411502,8 @@ beating. The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. - PMID:18694519 The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. + PMID:18694519 @@ -410306,8 +411834,8 @@ beating. The presence of an aortic valve with four instead of the normal three cusps (flaps). - PMID:27390747 The presence of an aortic valve with four instead of the normal three cusps (flaps). + PMID:27390747 @@ -410575,18 +412103,18 @@ beating. Orthodromic AVRT A type of atrioventricular reentrant tachycardia (AVRT) where the are the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. - - Orthodromic AVRT - - - - PMID:29234357 A type of atrioventricular reentrant tachycardia (AVRT) where the are the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. + + Orthodromic AVRT + + + + @@ -410616,12 +412144,12 @@ beating. 2017-12-17T17:01:47Z peter - Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic). A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). + Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic). A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). - PMID:29184614 + PMID:29184614 @@ -410694,8 +412222,8 @@ beating. Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. - PMID:8172861 Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. + PMID:8172861 @@ -410743,8 +412271,8 @@ beating. Morbidity and mortality from atherosclerosis is largely due to type IV and type V lesions in which disruptions of the lesion surface, hematoma or hemorrhage, and thrombotic deposits have developed. Type IV or V lesions with one or more of these additional features are classified as type VI and may also be referred to as complicated lesions. Type VI may be subdivided by the superimposed features. Thus, disruption of the surface may be labeled type VIa; hematoma or hemorrhage, type VIb; and thrombosis, type VIc. Type VIabc indicates the presence of all three features. - Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. PMID:7648691 + Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. @@ -410893,8 +412421,8 @@ beating. An unusually severe infection by cytomegalovirus. - PMID:12588074 An unusually severe infection by cytomegalovirus. + PMID:12588074 @@ -410924,8 +412452,8 @@ beating. Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. - PMID:24678403 An unusually severe adenovirus infection. + PMID:24678403 @@ -410972,8 +412500,8 @@ beating. A dissemination viral infection caused by a live attenuated vaccine virus. - A dissemination viral infection caused by a live attenuated vaccine virus. PMID:25452596 + A dissemination viral infection caused by a live attenuated vaccine virus. @@ -411069,6 +412597,7 @@ beating. 2017-12-18T00:20:14Z peter + Fyler:4867 Any structural anomaly of the ear. @@ -411212,8 +412741,8 @@ beating. A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. + ORCID:0000-0003-0986-4123 A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. - UManchester:psergouniotis @@ -411230,7 +412759,7 @@ beating. A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittant. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittant. @@ -411248,7 +412777,7 @@ beating. An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). @@ -411267,7 +412796,7 @@ beating. A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -411285,8 +412814,8 @@ beating. Alternating strabismus + ORCID:0000-0003-0986-4123 A type of exotropia in which either eye may be used for fixation. - UManchester:psergouniotis @@ -411303,8 +412832,8 @@ beating. Exotropia in an individual who has previously had esotropia or esophoria. - UManchester:psergouniotis Exotropia in an individual who has previously had esotropia or esophoria. + ORCID:0000-0003-0986-4123 @@ -411322,7 +412851,7 @@ beating. Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -411352,7 +412881,7 @@ beating. Secondary exotropia - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. @@ -411371,7 +412900,7 @@ beating. Non-accomodative convergence excess esotropia - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved. @@ -411382,11 +412911,19 @@ beating. - Sensory esotropia + Secondary esotropia 2018-01-13T14:08:58Z peter + Convergent squint which follows loss or impairment of vision. + Sensory esotropia + + Convergent squint which follows loss or impairment of vision. + ORCID:0000-0003-0986-4123 + + + @@ -411397,11 +412934,11 @@ beating. 2018-01-13T14:16:59Z peter - A small angle heterotropia (usually of 10 dioptres or less) in which a form of binocular single vision occurs. + A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. - A small angle heterotropia (usually of 10 dioptres or less) in which a form of binocular single vision occurs. - UManchester:psergouniotis + A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. + ORCID:0000-0003-0986-4123 @@ -411419,7 +412956,7 @@ beating. A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -411430,14 +412967,14 @@ beating. Incyclotropia - + 2018-01-14T15:35:57Z peter A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. - UManchester:psergouniotis A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. + ORCID:0000-0003-0986-4123 @@ -411448,14 +412985,14 @@ beating. Excyclotropia - + 2018-01-14T15:39:16Z peter A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. - UManchster:psergouniotis A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. + UManchster:psergouniotis @@ -411470,10 +413007,11 @@ beating. 2018-01-21T13:18:26Z peter A form of hypermetropia with not more that +2.00 diopters. + Mild hyperopia - UManchester:psergouniotis A form of hypermetropia with not more that +2.00 diopters. + ORCID:0000-0003-0986-4123 @@ -411488,10 +413026,11 @@ beating. 2018-01-21T13:20:25Z peter A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. + Moderate hyperopia + ORCID:0000-0003-0986-4123 A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. - UManchester:psergouniotis @@ -411510,7 +413049,7 @@ beating. A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. PMID:24113300 - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -411526,6 +413065,12 @@ beating. peter Increased lacrimation owing to overproduction of tears. + + ORCID:0000-0003-0986-4123 + Increased lacrimation owing to overproduction of tears. + + + @@ -411536,7 +413081,14 @@ beating. 2018-01-21T13:29:32Z peter + A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. + + A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. + ORCID:0000-0003-0986-4123 + + + @@ -411547,7 +413099,14 @@ beating. 2018-01-21T13:32:30Z peter + A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). + + A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). + ORCID:0000-0003-0986-4123 + + + @@ -411558,8 +413117,14 @@ beating. 2018-01-21T13:36:29Z peter - Reduced tear outflow is due to tear pump dysfunction and associated with increased tearing. + A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. + + ORCID:0000-0003-0986-4123 + A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. + + + @@ -411573,8 +413138,8 @@ beating. An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. - UManchester:psergouniotis An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. + ORCID:0000-0003-0986-4123 @@ -411591,8 +413156,8 @@ beating. Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. + ORCID:0000-0003-0986-4123 Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. - UManchester:psergouniotis @@ -411609,7 +413174,7 @@ beating. A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. @@ -411628,8 +413193,8 @@ beating. A functional anomaly of the inferior or superior oblique muscle. + ORCID:0000-0003-0986-4123 A functional anomaly of the inferior or superior oblique muscle. - UManchester:psergouniotis @@ -411658,7 +413223,7 @@ beating. Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. @@ -411676,7 +413241,7 @@ beating. Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. @@ -411694,7 +413259,7 @@ beating. Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. @@ -411725,7 +413290,7 @@ beating. Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -411743,8 +413308,8 @@ beating. In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. - UManchester:psergouniotis Mechanical limitation of the range of movement of the superior rectus muscle. + ORCID:0000-0003-0986-4123 @@ -411761,8 +413326,8 @@ beating. Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. + ORCID:0000-0003-0986-4123 Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. - UManchester:psergouniotis @@ -411779,8 +413344,8 @@ beating. A functional anomaly of the superior or inferior rectus muscle. - UManchester:psergouniotis A functional anomaly of the superior or inferior rectus muscle. + ORCID:0000-0003-0986-4123 @@ -411810,8 +413375,8 @@ beating. Decreased strength (ability to move) of the lateral rectus muscle. - UManchester:psergouniotis Decreased strength (ability to move) of the lateral rectus muscle. + ORCID:0000-0003-0986-4123 @@ -411828,7 +413393,7 @@ beating. Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. @@ -411858,8 +413423,8 @@ beating. Decreased strength of the medial rectus muscle. + ORCID:0000-0003-0986-4123 Decreased strength of the medial rectus muscle. - UManchester:psergouniotis @@ -411888,8 +413453,8 @@ beating. A functional anomaly of a vertical or horizontal rectus muscle. - UManchester:psergouniotis A functional anomaly of a vertical or horizontal rectus muscle. + ORCID:0000-0003-0986-4123 @@ -411907,7 +413472,7 @@ beating. Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -411925,8 +413490,8 @@ beating. In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. - UManchester:psergouniotis Mechanical limitation of the range of movement of the medial rectus muscle. + ORCID:0000-0003-0986-4123 @@ -411956,7 +413521,7 @@ beating. A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 @@ -411970,7 +413535,14 @@ beating. 2018-01-21T14:46:28Z peter + A form of esotropia in which the angle of deviation is not affected by accommodative effort. + + A form of esotropia in which the angle of deviation is not affected by accommodative effort. + ORCID:0000-0003-0986-4123 + + + @@ -411992,6 +413564,7 @@ beating. 2018-01-21T14:47:19Z peter + An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging. @@ -412006,7 +413579,7 @@ beating. Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. @@ -412021,7 +413594,14 @@ beating. 2018-01-21T14:47:50Z peter + Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. + + Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. + ORCID:0000-0003-0986-4123 + + + @@ -412032,7 +413612,16 @@ beating. 2018-01-21T14:48:00Z peter + Constant esotropia with an accommodative component + Constant esotropia with an accommodative element + A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. + + A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. + ORCID:0000-0003-0986-4123 + + + @@ -412043,7 +413632,14 @@ beating. 2018-01-21T14:48:11Z peter + An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. + + ORCID:0000-0003-0986-4123 + An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. + + + @@ -412054,7 +413650,14 @@ beating. 2018-01-21T14:48:32Z peter + Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent. and usually follows surgical overcorrection. + + ORCID:0000-0003-0986-4123 + Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent. and usually follows surgical overcorrection. + + + @@ -412068,8 +413671,8 @@ beating. Fixation of an object in the area adjacent to the fovea. - UManchester:psergouniotis Fixation of an object in the area adjacent to the fovea. + ORCID:0000-0003-0986-4123 @@ -412086,8 +413689,8 @@ beating. Fixation of an object in a peripheral area of the retina. - UManchester:psergouniotis Fixation of an object in a peripheral area of the retina. + ORCID:0000-0003-0986-4123 @@ -412104,8 +413707,8 @@ beating. A type of epicanthus in which a medial vertical fold is present between upper and lower lids. + ORCID:0000-0003-0986-4123 A type of epicanthus in which a medial vertical fold is present between upper and lower lids. - UManchester:psergouniotis @@ -412123,7 +413726,7 @@ beating. A type of epicanthus in which a primarily upper lid fold is present. - UManchester:psergouniotis + ORCID:0000-0003-0986-4123 A type of epicanthus in which a primarily upper lid fold is present. @@ -412131,6 +413734,629 @@ beating. + + + + Abnormal posterior circulating artery morphology + + 2018-01-27T11:25:13Z + peter + Any structural anomaly of the posterior circulating artery (PCOM). + The posterior circulating artery (PCOM) forms the posterior portion of the circle of Willis, connecting the interior carotid artery (proximal to its bifurcation into the anterior cerebral artery and the middle cerebral artery) with the posterior cerebral artery. + + + + + + + + Posterior communicating artery aneurysm + + 2018-01-27T11:27:22Z + peter + A widening (ballooning) localized in the wall of the posterior communicating artery. + Posterior communicating artery aneurysm can leads to an acute palsy of the third cranial nerve with ipsilateral pupil dilation. Posterior communicating aneurysms can be classified into aneurysms that project laterally and below the tentorial incisura and cause oculomotor nerve compression, and aneurysms that project laterally above the tentorium that can manifest as temporal lobe hematoma if they rupture. + + + + + + + + Posterior communicating artery infundibulum + + 2018-01-27T11:28:34Z + peter + PCOM infundibula are often considered as normal anatomical variants devoid of pathogenic significance, but have been noted to progress to aneurysms in some cases. + A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. + + + PMID:9848859 + A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. + + + + + + + + + + Neurogenic strabismus + + 2018-01-27T11:35:03Z + peter + Paralytic strabismus + An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. + + + ORCID:0000-0003-0986-4123 + An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. + + + + + + + + + + Cyclotropia + + 2018-01-27T11:38:31Z + peter + A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). + + + A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). + ORCID:0000-0003-0986-4123 + + + + + + + + + + Cyclophoria + + 2018-01-27T11:40:02Z + peter + A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. + + + A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. + ORCID:0000-0003-0986-4123 + + + + + + + + + + Incyclophoria + + 2018-01-27T11:40:45Z + peter + A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. + + + ORCID:0000-0003-0986-4123 + A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. + + + + + + + + + + Excyclophoria + + 2018-01-27T11:47:57Z + peter + A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other. + + + + + + + + Eosinophilic ascites + + 2018-01-27T12:22:52Z + peter + A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. + + + PMID:27721930 + A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. + + + + + + + + + + Microtropia with identity + + 2018-01-28T11:42:09Z + peter + A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. + + + PMID:9602615 + ORCID:0000-0003-0986-4123 + A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. + + + + + + + + + + Microtropia without identity + + 2018-01-28T11:44:11Z + peter + A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. + + + PMID:9602615 + A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. + ORCID:0000-0003-0986-4123 + + + + + + + + + + Absent coronary sinus + + + + + + + + + + + + + + + + + + + + + + 2018-01-28T12:02:56Z + peter + Fyler:2841 + A developmental defect in which the coronary sinus fails to form. + + + A developmental defect in which the coronary sinus fails to form. + PMID:24551710 + HPO:nvasilevsky + + + + + + + + + + Abnormal ascending aorta morphology + + 2018-01-28T12:14:30Z + peter + Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. + Fyler:1431 + + + Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. + MP:0009867 + + + + + + + + + + Abnormal eyelid movement + + 2018-01-28T12:51:02Z + peter + An abnormality in voluntary or involuntary eyelid movements or their control. + + + + + + + + Cogan lid twitch + + 2018-01-28T12:52:25Z + peter + Eyelid twitch + Transient eyelid retraction during refixation from down to straight ahead. + Lid twitch + Cogan eyelid twitch + + + ORCID:0000-0003-0986-4123 + Transient eyelid retraction during refixation from down to straight ahead. + + + + + + + + + + Oblique astigmatism + + 2018-01-28T13:31:31Z + peter + Astigmatism in which the refractive power of the vertical meridian is the greatest. + + + Astigmatism in which the refractive power of the vertical meridian is the greatest. + ORCID:0000-0003-0986-4123 + + + + + + + + + + With the rule astigmatism + + 2018-01-28T13:33:42Z + peter + Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). + + + ORCID:0000-0003-0986-4123 + Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). + + + + + + + + + + Against the rule astigmatism + + 2018-01-28T13:36:27Z + peter + Astigmatism with more plus power on the horizontal meridian. + + + + + + + + Mixed astigmatism + + 2018-01-28T13:37:32Z + peter + A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). + + + ORCID:0000-0003-0986-4123 + A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). + + + + + + + + + + Lenticular astigmatism + + 2018-01-28T13:40:22Z + peter + A type of astigmatism related to an irregular shape of the lens. + + + + + + + + Irregular astigmatism + + 2018-01-28T13:51:36Z + peter + A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. + + + + + + + + Increased serum leptin + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-02-25T14:05:58Z + peter + An increased concentration of leptin in the blood. + Elevated circulating leptin level + + + RGD:sjwang + An increased concentration of leptin in the blood. + + + + + + + + + + Decreased circulating glycerol level + + 2018-02-25T14:13:06Z + peter + A decrease below the normal concentration of glycerol in the blood. + + + + + + + + Abnormal circulating glycerol level + + 2018-02-25T14:28:46Z + peter + Any deviation from the normal concentration of glycerol in the blood. + + + + + + + + Recurrent + + 2018-02-25T14:40:47Z + peter + Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present. + Intermittent + + + + + + + + Clinical course + + 2018-02-25T14:55:46Z + peter + The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. + Natural history of disease + + + + + + + + Elevated apolipoprotein B level + + 2018-02-25T15:02:46Z + peter + Elevated ApoB level + Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. + + + ORCID:0000-0001-5356-4174 + Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. + + + + + + + + + + Decreased apolipoprotein AI level + + 2018-02-25T15:04:10Z + peter + Decreased apo-AI level + Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease. + Decreased apoA-I level + + + Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease. + ORCID:0000-0001-5356-4174 + + + + + + + + + + Elevated apolipoprotein A-II level + + 2018-02-25T15:06:30Z + peter + Elevated APOAII level + Elevated apoA-II level + An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. + Elevated Apo-AII level + + + ORCID:0000-0001-5356-4174 + An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. + + + + + + + + + + Vocal cord dysfunction + + + + + + + + + + + + + + + + + + + + + + 2018-03-04T12:07:39Z + peter + Any functional anomaly of the vocal cord. + + + + + + + + Fundus hemorrhage + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-03-07T15:30:14Z + peter + Bleeding within the fundus of the eye. + + + + + + + + Premacular hemorrhage + + 2018-03-07T15:32:12Z + peter + + + + + + + + Intraretinal hemorrhage + + 2018-03-07T15:35:11Z + peter + + + + @@ -412166,7 +414392,7 @@ beating. Mortality/Aging - + HPO:skoehler UMLS:C4022499 @@ -412214,19 +414440,19 @@ beating. Lack of skin coloring on chest human_phenotype - - Lack of skin coloring on chest - orcid.org/0000-0001-5208-3432 - - - - Lack of skin pigmentation (coloring) of the chest. HPO:skoehler + + Lack of skin coloring on chest + ORCID:0000-0001-5208-3432 + + + + @@ -412268,41 +414494,41 @@ beating. Failure of development of facial bones - orcid.org/0000-0001-5889-4463 Absence of facial bones + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of facial bones + ORCID:0000-0001-5889-4463 + Missing facial bones - + - orcid.org/0000-0001-5889-4463 - Agenesis of facial bones + ORCID:0000-0001-5889-4463 + Failure of development of facial bones + - orcid.org/0000-0001-5889-4463 Failure of development of facial skeleton + ORCID:0000-0001-5889-4463 - Missing facial bones - orcid.org/0000-0001-5889-4463 + Agenesis of facial bones + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Aplasia of facial skeleton @@ -412554,7 +414780,7 @@ beating. Prominent tailbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Prominent tailbone @@ -412593,7 +414819,7 @@ beating. Protruding tailbone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Protruding tailbone @@ -412634,7 +414860,7 @@ beating. Curvature of big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curvature of big toe @@ -412676,8 +414902,8 @@ beating. Curvature of finger + ORCID:0000-0001-5208-3432 Curvature of finger - orcid.org/0000-0001-5208-3432 @@ -412741,7 +414967,7 @@ beating. Curvature of index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -412781,8 +415007,8 @@ beating. Curvature of thumb - orcid.org/0000-0001-5208-3432 Curvature of thumb + ORCID:0000-0001-5208-3432 @@ -412822,8 +415048,8 @@ beating. Curvature of middle finger - orcid.org/0000-0001-5208-3432 Curvature of middle finger + ORCID:0000-0001-5208-3432 @@ -412864,7 +415090,7 @@ beating. Curvature of ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -412987,40 +415213,40 @@ beating. Short upper eyelid Small upper eyelid - - Underdevelopment of upper eyelid - orcid.org/0000-0001-5889-4463 - - - - Hypotrophic upper eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Short upper eyelid - orcid.org/0000-0001-5889-4463 + Decreased size of upper eyelid + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 Small upper eyelid - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased size of upper eyelid + ORCID:0000-0001-5889-4463 + Underdevelopment of upper eyelid + + ORCID:0000-0001-5889-4463 + Short upper eyelid + + + + @@ -413056,15 +415282,15 @@ beating. Absent/underdeveloped 5th long bone of foot - Absent/small 5th long bone of foot - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped 5th long bone of foot - Absent/underdeveloped 5th long bone of foot - http://orcid.org/0000-0001-5208-3432 + Absent/small 5th long bone of foot + ORCID:0000-0001-5208-3432 @@ -413102,7 +415328,7 @@ beating. Abnormality of the 2nd long bone of foot - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the 2nd long bone of foot @@ -413141,7 +415367,7 @@ beating. Abnormality of the 4th long bone of foot - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the 4th long bone of foot @@ -413181,8 +415407,8 @@ beating. Overgrowth and curving of fingernail + ORCID:0000-0001-5208-3432 Overgrowth and curving of fingernail - http://orcid.org/0000-0001-5208-3432 @@ -413248,7 +415474,7 @@ beating. Detachment of fingernails - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Detachment of fingernails @@ -413292,7 +415518,7 @@ beating. Detachment of toenails - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Detachment of toenails @@ -413333,7 +415559,7 @@ beating. Absent eccrine sweat glands - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -413371,8 +415597,8 @@ beating. Underdeveloped major sweat glands + ORCID:0000-0001-6908-9849 Underdeveloped major sweat glands - http://orcid.org/0000-0001-6908-9849 @@ -413410,8 +415636,8 @@ beating. Underdeveloped diaphragm - orcid.org/0000-0001-5208-3432 Underdeveloped diaphragm + ORCID:0000-0001-5208-3432 @@ -413497,16 +415723,16 @@ beating. Macular oedema - Macular oedema + ORCID:0000-0003-0986-4123 + Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. - - + - UManchester:psergouniotis - Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. + Macular oedema - + + @@ -413550,14 +415776,14 @@ beating. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Partial absence of upper eyelashes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Hypotrichosis of upper eyelashes @@ -413674,8 +415900,8 @@ beating. Ciliary trichomegaly of lower eyelashes - orcid.org/0000-0001-5889-4463 Increased length of lower eyelashes + ORCID:0000-0001-5889-4463 @@ -413721,14 +415947,14 @@ beating. Decreased length of upper eyelashes - Short upper eyelashes + Decreased length of upper eyelashes + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased length of upper eyelashes + Short upper eyelashes @@ -413768,14 +415994,14 @@ beating. Decreased length of lower eyelashes - Short lower eyelashes + Decreased length of lower eyelashes + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Decreased length of lower eyelashes + Short lower eyelashes @@ -413819,20 +416045,20 @@ beating. Aplasia of upper eyelashes - Agenesis of upper eyelashes - orcid.org/0000-0001-5889-4463 + Aplasia of upper eyelashes + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Aplasia of upper eyelashes + ORCID:0000-0001-5889-4463 + Agenesis of upper eyelashes Failure of development of upper eyelashes - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -413878,14 +416104,14 @@ beating. Abnormality of nose hair - orcid.org/0000-0001-5889-4463 - Abnormality of nose hair + Abnormality of nasal hair - Abnormality of nasal hair + ORCID:0000-0001-5889-4463 + Abnormality of nose hair @@ -414031,7 +416257,7 @@ beating. Decreased fat tissue - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -414073,7 +416299,8 @@ beating. Dysmelia - Abnormality of limbs + Abnormal limbs + HPO:skoehler @@ -414085,8 +416312,7 @@ beating. - Abnormal limbs - HPO:skoehler + Abnormality of limbs @@ -414125,7 +416351,7 @@ beating. Abnormal shape of bones of the upper limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal shape of bones of the upper limbs @@ -414165,7 +416391,7 @@ beating. Abnormal shape of bones of the lower limbs - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal shape of bones of the lower limbs @@ -414366,7 +416592,7 @@ beating. - Abnormal morphology of forearm bone + Abnormal forearm bone morphology @@ -414394,7 +416620,7 @@ beating. Abnormal shape of of forearm bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal shape of of forearm bone @@ -414486,8 +416712,8 @@ beating. Abnormal blood calcium levels - orcid.org/0000-0001-5208-3432 Abnormal blood calcium levels + ORCID:0000-0001-5208-3432 @@ -414517,7 +416743,7 @@ beating. Irregular teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -414602,8 +416828,8 @@ beating. - A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. PMID:18830393 + A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. @@ -414622,13 +416848,13 @@ beating. Toe-walking - Toe walking + Toe-walking - Toe-walking + Toe walking @@ -414739,8 +416965,8 @@ beating. - Abnormal plasma aldosterone HPO:skoehler + Abnormal plasma aldosterone @@ -414851,34 +417077,34 @@ beating. Any abnormality in the total number of lymphocytes in the blood. - Abnormal numbers of lymphocytes + Abnormal lymphocyte count - Abnormality of lymphocyte number HPO:skoehler + Abnormality of lymphocyte number + Abnormal number of lymphocytes HPO:skoehler - Abnormal lymphocyte counts - Abnormal lymphocyte count + HPO:skoehler + Abnormal lymphocyte counts - HPO:skoehler - Abnormal number of lymphocytes + Abnormal numbers of lymphocytes @@ -414927,20 +417153,20 @@ beating. + Abnormality of natural killer cell count HPO:skoehler - Abnormal number of natural killer cells - Abnormality of natural killer cell count + Abnormal number of natural killer cells HPO:skoehler - Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. PMID:19278419 + Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. @@ -414980,8 +417206,8 @@ beating. The tympanic membrane is considered to be the border of middle and outer ear. - orcid.org/0000-0001-5208-3432 Abnormality of the eardrum + ORCID:0000-0001-5208-3432 @@ -415035,8 +417261,8 @@ beating. Uneven ears - orcid.org/0000-0001-5208-3432 Uneven ears + ORCID:0000-0001-5208-3432 @@ -415086,14 +417312,14 @@ beating. A tumor (abnormal growth of tissue) of the outer ear. - HPO:probinson A tumor (abnormal growth of tissue) of the outer ear. + HPO:probinson Outer ear tumor - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -415143,17 +417369,17 @@ beating. Inner ear tumor - Inner ear tumor - orcid.org/0000-0001-5208-3432 + HPO:probinson + A tumor (abnormal growth of tissue) of the inner ear. - - + - A tumor (abnormal growth of tissue) of the inner ear. - HPO:probinson + ORCID:0000-0001-5208-3432 + Inner ear tumor - + + @@ -415418,8 +417644,8 @@ beating. Absent eustachian tube + ORCID:0000-0001-5208-3432 Absent eustachian tube - orcid.org/0000-0001-5208-3432 @@ -415577,8 +417803,8 @@ beating. A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. - A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. HPO:probinson + A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. @@ -415767,23 +417993,23 @@ beating. - + HPO:skoehler UMLS:C4022420 Abnormal liver iron concentration Abnormal liver iron level - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal liver iron concentration - Abnormal liver iron level HPO:skoehler + Abnormal liver iron level @@ -415812,8 +418038,8 @@ beating. Comedogenic acne - PMID:18177407 A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. + PMID:18177407 @@ -415832,8 +418058,8 @@ beating. Histiocytosis, mucinous - PMID:10606860 Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. + PMID:10606860 @@ -415979,7 +418205,14 @@ beating. HPO:skoehler SNOMEDCT_US:237961001 UMLS:C1855995 + An increase in the level of L-2-hydroxyglutaric acid in the urine. + + An increase in the level of L-2-hydroxyglutaric acid in the urine. + ORCID:0000-0001-5208-3432 + + + @@ -416111,26 +418344,26 @@ beating. UMLS:C4280291 UMLS:C4280292 UMLS:C4280293 - Nappy scalp hair texture Kinky scalp hair texture + Nappy scalp hair texture Afro-textured scalp hair + ORCID:0000-0001-5889-4463 Kinky scalp hair texture - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Afro-textured scalp hair - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Nappy scalp hair texture @@ -416179,14 +418412,14 @@ beating. Pyoderma fistulans significa - orcid.org/0000-0001-5208-3432 - Hidradenitis suppurativa + https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx + A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. - + - Verneuil's disease - PMID:23439959 + ORCID:0000-0001-5208-3432 + Hidradenitis suppurativa @@ -416198,15 +418431,15 @@ beating. PMID:23439959 - Smoker's boils + Verneuil's disease - A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. - https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx + Smoker's boils + PMID:23439959 - + @@ -416370,21 +418603,21 @@ beating. Abnormality of spacing of front teeth - Abnormal spaced incisors + ORCID:0000-0001-5889-4463 + Abnormality of spacing of incisors - Abnormality of spacing of front teeth - orcid.org/0000-0001-5889-4463 + Abnormal spaced incisors - Abnormality of spacing of incisors - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of spacing of front teeth @@ -416458,7 +418691,7 @@ beating. Abnormal shape of pelvis bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal shape of pelvis bone @@ -416478,8 +418711,8 @@ beating. Lipomas of upper lids + ORCID:0000-0001-5889-4463 Fatty tumors on upper eyelids - orcid.org/0000-0001-5889-4463 @@ -416610,14 +418843,14 @@ beating. Facial wart - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Facial verruca - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -416702,35 +418935,35 @@ beating. Low serum testosterone levels - Decreased serum testosterone level + HPO:skoehler + Low serum testosterone levels HPO:skoehler - Low serum testosterone levels + Low serum testosterone level - HPO:skoehler - Low serum testosterone level + Decreased serum testosterone level - HPO:skoehler Decreased testosterone + HPO:skoehler - HPO:skoehler Decreased serum testosterone levels + HPO:skoehler @@ -416802,15 +419035,15 @@ beating. Abnormality of lingual muscle - orcid.org/0000-0001-5889-4463 - Abnormality of lingual muscle + Abnormality of the tongue muscle + - Abnormality of the tongue muscle + ORCID:0000-0001-5889-4463 + Abnormality of lingual muscle - @@ -416846,7 +419079,7 @@ beating. HPO:skoehler - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of extrinsic lingual muscle @@ -416964,38 +419197,38 @@ beating. Perioral dermatitis - Chapped lip + Dry lips - Perioral dermatitis - orcid.org/0000-0001-5889-4463 + Chapped lips - + + - Chapped lips + Chapped lip - Common cheilitis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Perioral dermatitis - + - Dry lips + ORCID:0000-0001-5889-4463 + Cheilitis simplex - - orcid.org/0000-0001-5889-4463 - Cheilitis simplex + Common cheilitis + ORCID:0000-0001-5889-4463 @@ -417032,14 +419265,14 @@ beating. Stool holding - orcid.org/0000-0001-5208-3432 Stool holding + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Stool soiling @@ -417090,15 +419323,15 @@ beating. Oral hemorrhage - Oral bleeding + ORCID:0000-0001-5889-4463 + Oral hemorrhage - - orcid.org/0000-0001-5889-4463 - Oral hemorrhage + Oral bleeding + @@ -417127,8 +419360,8 @@ beating. A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. - A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. PMID:19398898 + A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. @@ -417146,8 +419379,8 @@ beating. Systemic inflammatory response to infection in newborn babies. - PMID:4067741 Systemic inflammatory response to infection in newborn babies. + PMID:4067741 @@ -417185,25 +419418,25 @@ beating. Desquamation - flaking skin + peeling skin - scaly skin + Scaling skin - peeling skin + flaking skin - Scaling skin + scaly skin @@ -417221,14 +419454,14 @@ beating. White scaly skin - White scaling skin + White scaly skin + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - White scaly skin + White scaling skin @@ -417450,15 +419683,15 @@ beating. - The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. PhenoTips:CHum + The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. pmid:17353476 - Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions. HPO:pnrobinson + Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions. @@ -417476,8 +419709,8 @@ beating. PhenoTips:CHum - A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. PhenoTips:CHum + A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. @@ -418036,9 +420269,9 @@ beating. Elevated glycosylated hemoglobin + PMID:20042774 An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. - HPO:probinson - PMID:20042774 + HPO:probinson @@ -418119,18 +420352,18 @@ beating. Absent NK cells Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. - - Absent NK cells - - - - HPO:probinson Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. + + Absent NK cells + + + + @@ -418653,8 +420886,8 @@ beating. A subtype of skin dimples occurring on the hands. - HPO:skoehler A subtype of skin dimples occurring on the hands. + HPO:skoehler @@ -418842,10 +421075,10 @@ beating. A deviation in the size of nasopharyngeal adenoids. - Abnormal size of nasopharyngeal adenoids - orcid.org/0000-0001-7941-2961 + ORCID:0000-0001-7941-2961 + A deviation in the size of nasopharyngeal adenoids. - + @@ -418912,7 +421145,7 @@ beating. Absence of the nasopharyngeal adenoids as a developmental defect. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absence of the nasopharyngeal adenoids as a developmental defect. @@ -418949,8 +421182,8 @@ beating. An abnormal decrease in the size of nasopharyngeal adenoids. - orcid.org/0000-0001-7941-2961 An abnormal decrease in the size of nasopharyngeal adenoids. + ORCID:0000-0001-7941-2961 @@ -419038,7 +421271,7 @@ beating. - HPO:probinson + HPO:probinson An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. @@ -419107,7 +421340,7 @@ beating. Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections - orcid.org/0000-0001-7941-2961 + ORCID:0000-0001-7941-2961 Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections @@ -419176,16 +421409,16 @@ beating. A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. - PMID:19527360 - Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. + A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. + HPO:probinson - + - HPO:probinson - A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. + Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. + PMID:19527360 - + @@ -419575,8 +421808,8 @@ beating. Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). - Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). https://rarediseases.info.nih.gov/diseases/6229/cyclic-neutropenia + Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). @@ -419897,14 +422130,14 @@ beating. - + In glycerol kinase deficiency, the increased glycerol concentration has been noted to cause false-positive results of hypertriglyceridemia, a phenomenon called pseudohypertriglyceridemia. Pseudohypertriglyceridemia Increased concentration of glycerol in the blood. - PMID:23415440 Increased concentration of glycerol in the blood. + PMID:23415440 @@ -420319,8 +422552,8 @@ beating. Hypoplasia of olfactory bulb - HPO:skoehler Underdevelopment of the olfactory bulb. + HPO:skoehler @@ -420662,15 +422895,15 @@ beating. Absent lymphatic vessels + ORCID:0000-0001-5208-3432 Absent lymphatic vessels - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Aplasia (absence) of the lymphatic vessels. + ORCID:0000-0001-5208-3432 @@ -421040,7 +423273,7 @@ beating. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Partial double eyebrow @@ -421085,36 +423318,36 @@ beating. Narrow palpebral fissures - Narrow eyelid opening + HPO:probinson + Reduction in the vertical distance between the upper and lower eyelids. - - + - Reduction in the vertical distance between the upper and lower eyelids. - HPO:probinson + Decreased size of palpebral fissure + ORCID:0000-0001-5889-4463 - + + + + Narrow eyelid opening + + + - Small palpebral fissures HPO:skoehler + Small palpebral fissures - orcid.org/0000-0001-5889-4463 Small opening between the eyelids + ORCID:0000-0001-5889-4463 - - Decreased size of palpebral fissure - orcid.org/0000-0001-5889-4463 - - - @@ -421454,8 +423687,8 @@ beating. HPO:skoehler - https://emedicine.medscape.com/article/135478-overview A reduced level of the complement component C4 in the circulation. + https://emedicine.medscape.com/article/135478-overview @@ -421472,8 +423705,8 @@ beating. A reduced level of the complement component C4a in circulation. - https://emedicine.medscape.com/article/135478-overview A reduced level of the complement component C4a in circulation. + https://emedicine.medscape.com/article/135478-overview @@ -421542,9 +423775,9 @@ beating. Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. + PMID:3953566 Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. HPO:probinson - PMID:3953566 @@ -421560,8 +423793,8 @@ beating. An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. - HPO:probinson PMID:26372049 + HPO:probinson An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. @@ -421895,8 +424128,8 @@ beating. - + UMLS:C4073182 @@ -421913,8 +424146,8 @@ beating. PIVKA-II can be measured by enzyme-linked immunosorbent assay (ELISA). - Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. PMID:12717392 + Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. HPO:pnrobinson @@ -421999,13 +424232,13 @@ beating. HPO:skoehler - Thin eyebrows + Thin eyebrow - Thin eyebrow + Thin eyebrows @@ -422044,28 +424277,28 @@ beating. Hypotrichosis of eyebrow - Sparse eyebrows + HPO:skoehler + Decreased density/number of eyebrow hairs. - - + - Sparse eyebrow + Hypotrichosis of eyebrow + HPO:skoehler - - HPO:skoehler - Hypotrichosis of eyebrow + Sparse eyebrow + - HPO:skoehler - Decreased density/number of eyebrow hairs. + Sparse eyebrows - + + @@ -422239,8 +424472,8 @@ beating. PMID:28599980 - The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). sanford:krageth + The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). @@ -422664,12 +424897,6 @@ beating. doelkens human_phenotype - - A benign or malignant neoplasm (tumour) of the peripheral nervous system. - HPO:probinson - - - HPO:sdoelken Tumor of the peripheral nervous system @@ -422677,6 +424904,12 @@ beating. + + A benign or malignant neoplasm (tumour) of the peripheral nervous system. + HPO:probinson + + + @@ -422722,18 +424955,18 @@ beating. doelkens human_phenotype - - A benign nerve sheath tumor composed of Schwann cells. - HPO:sdoelken - - - HPO:skoehler Schwannomas + + A benign nerve sheath tumor composed of Schwann cells. + HPO:sdoelken + + + @@ -422893,7 +425126,7 @@ beating. Eye tumor - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Eye tumor @@ -422958,8 +425191,14 @@ beating. Breast tumor + Tumours of the breast + + + + + + ORCID:0000-0001-5208-3432 Breast tumor - orcid.org/0000-0001-5208-3432 @@ -422970,12 +425209,6 @@ beating. - - Tumours of the breast - - - - @@ -423067,13 +425300,13 @@ beating. - Vulcan ear + Spock ear - Spock ear + Vulcan ear @@ -423161,18 +425394,18 @@ beating. - A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. - HPO:sdoelken - - - - + ORCID:0000-0001-6908-9849 Yellowish cloudy center of lens - orcid.org/0000-0001-6908-9849 + + A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. + HPO:sdoelken + + + @@ -423376,18 +425609,18 @@ beating. doelkens human_phenotype - - A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. - HPO:sdoelken - - - Overfriendliness + + A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. + HPO:sdoelken + + + @@ -423462,7 +425695,7 @@ beating. Recurring pancreas inflammation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Recurring pancreas inflammation @@ -423521,7 +425754,7 @@ beating. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal thryoid location @@ -423654,7 +425887,7 @@ beating. human_phenotype - Tics + Tic disorder @@ -423667,7 +425900,7 @@ beating. - Tic disorder + Tics @@ -423778,18 +426011,18 @@ beating. doelkens human_phenotype - - An abnormality of the hair of head. - HPO:probinson - - - Abnormality of the scalp hair + + An abnormality of the hair of head. + HPO:probinson + + + @@ -423935,19 +426168,19 @@ beating. - - Wide 3rd toe - orcid.org/0000-0001-5208-3432 - - - - A broad appearance of the third toe. HPO:sdoelken + + ORCID:0000-0001-5208-3432 + Wide 3rd toe + + + + @@ -423986,12 +426219,6 @@ beating. human_phenotype Wide 4th toe - - A broad appearance of the fourth toe. - HPO:sdoelken - - - Broad 4th toe @@ -423999,8 +426226,14 @@ beating. - orcid.org/0000-0001-5208-3432 + A broad appearance of the fourth toe. + HPO:sdoelken + + + + Wide 4th toe + ORCID:0000-0001-5208-3432 @@ -424046,21 +426279,22 @@ beating. Broad pinky toe - Broad pinkie toe - orcid.org/0000-0001-5208-3432 + Broad pinky toe + ORCID:0000-0001-5208-3432 - A broad appearance of the fifth toe. - HPO:sdoelken + ORCID:0000-0001-5208-3432 + Broad pinkie toe - + + - orcid.org/0000-0001-5208-3432 - Broad pinky toe + Broad little toe + ORCID:0000-0001-5208-3432 @@ -424072,11 +426306,10 @@ beating. - orcid.org/0000-0001-5208-3432 - Broad little toe + A broad appearance of the fifth toe. + HPO:sdoelken - - + @@ -424125,8 +426358,8 @@ beating. Absent end part of the 2nd toe bone + ORCID:0000-0001-5208-3432 Absent end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 @@ -424178,7 +426411,7 @@ beating. Bracket shaped end part of 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of 2nd toe bone @@ -424231,7 +426464,7 @@ beating. Cone-shaped end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the 2nd toe bone @@ -424285,7 +426518,7 @@ beating. Enlarged end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -424337,7 +426570,7 @@ beating. Fragmentation of the end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the 2nd toe bone @@ -424390,8 +426623,8 @@ beating. Irregular end part of the 2nd toe bone + ORCID:0000-0001-5208-3432 Irregular end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 @@ -424445,7 +426678,7 @@ beating. Increased bone density of end part of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -424538,8 +426771,8 @@ beating. Small end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 Small end part of the 2nd toe bone + ORCID:0000-0001-5208-3432 @@ -424592,7 +426825,7 @@ beating. Speckled calcifications in the end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -424644,8 +426877,8 @@ beating. Triangular end part of the 2nd toe bone - orcid.org/0000-0001-5208-3432 Triangular end part of the 2nd toe bone + ORCID:0000-0001-5208-3432 @@ -424697,8 +426930,8 @@ beating. Absent end part of the 3rd toe + ORCID:0000-0001-5208-3432 Absent end part of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -424750,7 +426983,7 @@ beating. Bracket shaped end part of 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of 3rd toe bone @@ -424803,8 +427036,8 @@ beating. Cone-shaped end part of the 3rd toe bone + ORCID:0000-0001-5208-3432 Cone-shaped end part of the 3rd toe bone - orcid.org/0000-0001-5208-3432 @@ -424856,8 +427089,8 @@ beating. Enlarged end part of the 3rd toe bone - orcid.org/0000-0001-5208-3432 Enlarged end part of the 3rd toe bone + ORCID:0000-0001-5208-3432 @@ -424909,7 +427142,7 @@ beating. Fragmentation of the end part of the 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the 3rd toe bone @@ -424963,7 +427196,7 @@ beating. Irregular end part of the 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -425015,19 +427248,19 @@ beating. human_phenotype Increased bone density of end part of the 3rd toe bone - - orcid.org/0000-0001-5208-3432 - Increased bone density of end part of the 3rd toe bone - - - - Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HPO:probinson + + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the 3rd toe bone + + + + @@ -425111,7 +427344,7 @@ beating. Small end part of the 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -425163,7 +427396,7 @@ beating. Speckled calcifications in the end part of the 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the 3rd toe bone @@ -425216,7 +427449,7 @@ beating. Triangular end part of the 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the 3rd toe bone @@ -425269,8 +427502,8 @@ beating. Absent end part of the 4th toe bone + ORCID:0000-0001-5208-3432 Absent end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 @@ -425322,7 +427555,7 @@ beating. Bracket shaped end part of 4th toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of 4th toe bone @@ -425375,8 +427608,8 @@ beating. Cone-shaped end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 Cone-shaped end part of the 4th toe bone + ORCID:0000-0001-5208-3432 @@ -425428,8 +427661,8 @@ beating. Enlarged end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 Enlarged end part of the 4th toe bone + ORCID:0000-0001-5208-3432 @@ -425481,8 +427714,8 @@ beating. Fragmentation of the end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the 4th toe bone + ORCID:0000-0001-5208-3432 @@ -425535,7 +427768,7 @@ beating. Irregular end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -425594,8 +427827,8 @@ beating. + ORCID:0000-0001-5208-3432 Increased bone density of end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 @@ -425682,7 +427915,7 @@ beating. Small end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the 4th toe bone @@ -425735,7 +427968,7 @@ beating. Speckled calcifications in the end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the 4th toe bone @@ -425789,7 +428022,7 @@ beating. Triangular end part of the 4th toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -425843,22 +428076,22 @@ beating. Absent end part of the little toe bone - orcid.org/0000-0001-5208-3432 - Absent end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 + Absent end part of the little toe bone - orcid.org/0000-0001-5208-3432 Absent end part of the pinky toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent end part of the little toe bone + ORCID:0000-0001-5208-3432 + Absent end part of the pinkie toe bone @@ -425912,21 +428145,21 @@ beating. Bracket shaped end part of pinky toe bone - Bracket shaped end part of pinkie toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Bracket shaped end part of little toe bone - Bracket shaped end part of little toe bone - orcid.org/0000-0001-5208-3432 + Bracket shaped end part of pinkie toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of pinky toe bone @@ -425981,22 +428214,22 @@ beating. Cone-shaped end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the pinkie toe bone + Cone-shaped end part of the little toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the little toe bone + ORCID:0000-0001-5208-3432 + Cone-shaped end part of the pinky toe bone - Cone-shaped end part of the pinky toe bone - orcid.org/0000-0001-5208-3432 + Cone-shaped end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 @@ -426050,21 +428283,21 @@ beating. Enlarged end part of the little toe bone - orcid.org/0000-0001-5208-3432 - Enlarged end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 + Enlarged end part of the pinky toe bone - orcid.org/0000-0001-5208-3432 - Enlarged end part of the pinky toe bone + Enlarged end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the little toe bone @@ -426119,22 +428352,22 @@ beating. Fragmentation of the end part of the pinky toe bone - Fragmentation of the end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 + Fragmentation of the end part of the little toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the pinky toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Fragmentation of the end part of the little toe bone + ORCID:0000-0001-5208-3432 + Fragmentation of the end part of the pinkie toe bone @@ -426188,22 +428421,22 @@ beating. Irregular end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the little toe bone - Irregular end part of the pinky toe bone - orcid.org/0000-0001-5208-3432 + Irregular end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Irregular end part of the pinkie toe bone + Irregular end part of the pinky toe bone + ORCID:0000-0001-5208-3432 @@ -426258,22 +428491,22 @@ beating. Increased bone density of end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the pinky toe bone - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the little toe bone + ORCID:0000-0001-5208-3432 @@ -426368,22 +428601,22 @@ beating. Small end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 - Small end part of the little toe bone + Small end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 - Small end part of the pinky toe bone - orcid.org/0000-0001-5208-3432 + Small end part of the little toe bone + ORCID:0000-0001-5208-3432 - Small end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small end part of the pinky toe bone @@ -426437,22 +428670,22 @@ beating. Speckled calcifications in the end part of the pinkie toe bone - Speckled calcifications in the end part of the pinky toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Speckled calcifications in the end part of the little toe bone - Speckled calcifications in the end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Speckled calcifications in the end part of the pinky toe bone - Speckled calcifications in the end part of the little toe bone - orcid.org/0000-0001-5208-3432 + Speckled calcifications in the end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 @@ -426506,22 +428739,22 @@ beating. Triangular end part of the pinky toe bone - Triangular end part of the pinky toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Triangular end part of the pinkie toe bone - orcid.org/0000-0001-5208-3432 - Triangular end part of the pinkie toe bone + ORCID:0000-0001-5208-3432 + Triangular end part of the little toe bone - Triangular end part of the little toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Triangular end part of the pinky toe bone @@ -426572,8 +428805,8 @@ beating. Abnormality of the end part of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -426624,8 +428857,8 @@ beating. Abnormality of the end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -426676,8 +428909,8 @@ beating. Abnormality of the end part of the innermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -426728,7 +428961,7 @@ beating. Abnormality of the end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the 3rd toe @@ -426780,8 +429013,8 @@ beating. Abnormality of the end part of the middle bone of the 3rd toe + ORCID:0000-0001-5208-3432 Abnormality of the end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -426832,7 +429065,7 @@ beating. Abnormality of the end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the 3rd toe @@ -426885,7 +429118,7 @@ beating. Abnormality of the end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -426936,7 +429169,7 @@ beating. Abnormality of the end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormality of the end part of the middle bone of the 4th toe @@ -426988,8 +429221,8 @@ beating. Abnormality of the end part of the innermost bone of the 4th toe + ORCID:0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -427042,22 +429275,22 @@ beating. Abnormality of the end part of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 - Abnormality of the end part of the outermost bone of the little toe + Abnormality of the end part of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Abnormality of the end part of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormality of the end part of the outermost bone of the pinky toe - Abnormality of the end part of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Abnormality of the end part of the outermost bone of the little toe @@ -427110,22 +429343,22 @@ beating. Abnormality of the end part of the middle bone of the pinkie toe - Abnormality of the end part of the middle bone of the little toe - orcid.org/0000-0001-5208-3432 + Abnormality of the end part of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Abnormality of the end part of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Abnormality of the end part of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 + Abnormality of the end part of the middle bone of the little toe @@ -427178,22 +429411,22 @@ beating. Abnormality of the end part of the innermost bone of the pinkie toe - Abnormality of the end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Abnormality of the end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Abnormality of the end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 + Abnormality of the end part of the innermost bone of the pinkie toe @@ -427246,7 +429479,7 @@ beating. Absent end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -427298,8 +429531,8 @@ beating. Bracket shaped end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Bracket shaped end part of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -427352,7 +429585,7 @@ beating. Cone-shaped end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -427404,7 +429637,7 @@ beating. Enlarged end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the outermost bone of the 2nd toe @@ -427457,8 +429690,8 @@ beating. Fragmentation of the end part of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -427510,8 +429743,8 @@ beating. Irregular end part of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Irregular end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -427564,7 +429797,7 @@ beating. Increased bone density of end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -427651,8 +429884,8 @@ beating. Small end part of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Small end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -427704,8 +429937,8 @@ beating. Speckled calcifications in the end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -427757,8 +429990,8 @@ beating. Triangular end part of the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Triangular end part of the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -427811,7 +430044,7 @@ beating. Absent end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -427863,7 +430096,7 @@ beating. Bracket shaped end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the middle bone of the 2nd toe @@ -427916,7 +430149,7 @@ beating. Cone-shaped end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Cone-shaped end part of the middle bone of the 2nd toe @@ -427969,8 +430202,8 @@ beating. Enlarged end part of the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 Enlarged end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -428022,7 +430255,7 @@ beating. Fragmentation of the end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the middle bone of the 2nd toe @@ -428075,8 +430308,8 @@ beating. Irregular end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -428128,8 +430361,8 @@ beating. Increased bone density of end part of the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 Increased bone density of end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -428216,8 +430449,8 @@ beating. Small end part of the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 Small end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -428269,8 +430502,8 @@ beating. Speckled calcifications in of the end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Speckled calcifications in of the end part of the middle bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -428321,7 +430554,7 @@ beating. Triangular end part of the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the middle bone of the 2nd toe @@ -428374,8 +430607,8 @@ beating. Absent end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Absent end part of the innermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -428427,7 +430660,7 @@ beating. Bracket shaped end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the 2nd toe @@ -428480,8 +430713,8 @@ beating. Cone-shaped end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Cone-shaped end part of the innermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -428533,7 +430766,7 @@ beating. Enlarged end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the innermost bone of the 2nd toe @@ -428586,7 +430819,7 @@ beating. Fragmentation of the end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the innermost bone of the 2nd toe @@ -428639,7 +430872,7 @@ beating. Irregular end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the innermost bone of the 2nd toe @@ -428692,8 +430925,8 @@ beating. Increased bone density of end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the innermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 @@ -428780,7 +431013,7 @@ beating. Small end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the innermost bone of the 2nd toe @@ -428834,7 +431067,7 @@ beating. Speckled calcifications in the end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -428886,7 +431119,7 @@ beating. Triangular end part of the innermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the innermost bone of the 2nd toe @@ -428928,18 +431161,18 @@ beating. doelkens human_phenotype - - Abnormality of the pubic hair - - - - Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. HPO:sdoelken + + Abnormality of the pubic hair + + + + @@ -429029,7 +431262,7 @@ beating. Absent end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -429081,8 +431314,8 @@ beating. Bracket shaped end part of the outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Bracket shaped end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -429135,7 +431368,7 @@ beating. Cone-shaped end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -429187,8 +431420,8 @@ beating. Enlarged end part of the outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Enlarged end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -429240,8 +431473,8 @@ beating. Fragmentation of the end part of the outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -429293,7 +431526,7 @@ beating. Irregular end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the outermost bone of the 3rd toe @@ -429347,7 +431580,7 @@ beating. Increased bone density of end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -429435,7 +431668,7 @@ beating. Small end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -429488,7 +431721,7 @@ beating. Speckled calcifications in the end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -429540,8 +431773,8 @@ beating. Triangular end part of the outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Triangular end part of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -429593,8 +431826,8 @@ beating. Absent end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 Absent end part of the middle bone of the 3rd toe + ORCID:0000-0001-5208-3432 @@ -429646,8 +431879,8 @@ beating. Bracket shaped end part of the middle bone of 3rd toe + ORCID:0000-0001-5208-3432 Bracket shaped end part of the middle bone of 3rd toe - orcid.org/0000-0001-5208-3432 @@ -429700,7 +431933,7 @@ beating. Cone-shaped end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -429751,8 +431984,8 @@ beating. Enlarged end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 Enlarged end part of the middle bone of the 3rd toe + ORCID:0000-0001-5208-3432 @@ -429804,8 +432037,8 @@ beating. Fragmentation of the end part of the middle bone of the 3rd toe + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -429857,8 +432090,8 @@ beating. Irregular end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the 3rd toe + ORCID:0000-0001-5208-3432 @@ -429910,8 +432143,8 @@ beating. Increased bone density of end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of the 3rd toe + ORCID:0000-0001-5208-3432 @@ -429999,7 +432232,7 @@ beating. Small end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -430051,7 +432284,7 @@ beating. Speckled calcifications in the end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the middle bone of the 3rd toe @@ -430104,7 +432337,7 @@ beating. Triangular end part of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the middle bone of the 3rd toe @@ -430157,8 +432390,8 @@ beating. Absent end part of the innermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Absent end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -430210,8 +432443,8 @@ beating. Bracket shaped end part of the innermost bone of 3rd toe + ORCID:0000-0001-5208-3432 Bracket shaped end part of the innermost bone of 3rd toe - orcid.org/0000-0001-5208-3432 @@ -430264,7 +432497,7 @@ beating. Cone-shaped end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -430316,7 +432549,7 @@ beating. Enlarged end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the innermost bone of the 3rd toe @@ -430369,8 +432602,8 @@ beating. Fragmentation of the end part of the innermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -430422,7 +432655,7 @@ beating. Irregular end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the innermost bone of the 3rd toe @@ -430476,7 +432709,7 @@ beating. Increased bone density of end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -430563,7 +432796,7 @@ beating. Small end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the innermost bone of the 3rd toe @@ -430617,7 +432850,7 @@ beating. Speckled calcifications in of the end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -430669,8 +432902,8 @@ beating. Triangular end part of the innermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Triangular end part of the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -430719,7 +432952,7 @@ beating. Fragmented end part of bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -430771,7 +433004,7 @@ beating. Absent end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent end part of the outermost bone of the 4th toe @@ -430824,8 +433057,8 @@ beating. Bracket shaped end part of the outermost bone of the 4th toe + ORCID:0000-0001-5208-3432 Bracket shaped end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -430877,8 +433110,8 @@ beating. Cone-shaped end part of the outermost bone of the 4th toe + ORCID:0000-0001-5208-3432 Cone-shaped end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -430931,7 +433164,7 @@ beating. Enlarged end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -430984,7 +433217,7 @@ beating. Fragmentation of the end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -431037,7 +433270,7 @@ beating. Irregular end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -431089,8 +433322,8 @@ beating. Increased bone density of end part of the outermost bone of the 4th toe + ORCID:0000-0001-5208-3432 Increased bone density of end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -431178,7 +433411,7 @@ beating. Small end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -431230,7 +433463,7 @@ beating. Speckled calcifications in the end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Speckled calcifications in the end part of the outermost bone of the 4th toe @@ -431284,7 +433517,7 @@ beating. Triangular end part of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -431336,8 +433569,8 @@ beating. Absent end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 Absent end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -431389,8 +433622,8 @@ beating. Bracket shaped end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 Bracket shaped end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -431442,8 +433675,8 @@ beating. Cone-shaped end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 Cone-shaped end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -431495,8 +433728,8 @@ beating. Enlarged end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 Enlarged end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -431548,8 +433781,8 @@ beating. Fragmentation of the end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -431601,8 +433834,8 @@ beating. Irregular end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -431654,8 +433887,8 @@ beating. Increased bone density of end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -431743,7 +433976,7 @@ beating. Small end part of middle long bone of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -431795,8 +434028,8 @@ beating. Speckled calcifications in the end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -431848,8 +434081,8 @@ beating. Triangular end part of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 Triangular end part of the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -431901,8 +434134,8 @@ beating. Absent end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 Absent end part of the innermost bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -431954,8 +434187,8 @@ beating. Bracket shaped end part of the innermost bone of 4th toe + ORCID:0000-0001-5208-3432 Bracket shaped end part of the innermost bone of 4th toe - orcid.org/0000-0001-5208-3432 @@ -432007,8 +434240,8 @@ beating. Cone-shaped end part of the innermost bone of the 4th toe + ORCID:0000-0001-5208-3432 Cone-shaped end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -432060,8 +434293,8 @@ beating. Enlarged end part of the innermost bone of the 4th toe + ORCID:0000-0001-5208-3432 Enlarged end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -432113,8 +434346,8 @@ beating. Fragmentation of the end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the innermost bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -432166,7 +434399,7 @@ beating. Irregular end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the innermost bone of the 4th toe @@ -432219,7 +434452,7 @@ beating. Increased bone density of end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the innermost bone of the 4th toe @@ -432307,7 +434540,7 @@ beating. Small end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Small end part of the innermost bone of the 4th toe @@ -432361,7 +434594,7 @@ beating. Speckled calcifications in the end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -432413,8 +434646,8 @@ beating. Triangular end part of the innermost bone of the 4th toe + ORCID:0000-0001-5208-3432 Triangular end part of the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -432468,22 +434701,22 @@ beating. Absent end part of the outermost bone of the little toe - Absent end part of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + Absent end part of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent end part of the outermost bone of the pinkie toe + Absent end part of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent end part of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 + Absent end part of the outermost bone of the pinkie toe @@ -432537,22 +434770,22 @@ beating. Bracket shaped end part of the outermost bone of the pinky toe - Bracket shaped end part of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + Bracket shaped end part of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Bracket shaped end part of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Bracket shaped end part of the outermost bone of the little toe - Bracket shaped end part of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Bracket shaped end part of the outermost bone of the pinky toe @@ -432606,22 +434839,22 @@ beating. Cone-shaped end part of the outermost bone of the little toe - Cone-shaped end part of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Cone-shaped end part of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Cone-shaped end part of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - Cone-shaped end part of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 + Cone-shaped end part of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 @@ -432675,21 +434908,21 @@ beating. Enlarged end part of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 Enlarged end part of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the outermost bone of the pinky toe @@ -432744,22 +434977,22 @@ beating. Fragmentation of the end part of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 - Fragmentation of the end part of the outermost bone of the pinky toe + Fragmentation of the end part of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Fragmentation of the end part of the outermost bone of the little toe + Fragmentation of the end part of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Fragmentation of the end part of the outermost bone of the pinkie toe + Fragmentation of the end part of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 @@ -432813,22 +435046,22 @@ beating. Irregular end part of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 Irregular end part of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Irregular end part of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 Irregular end part of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 @@ -432882,22 +435115,22 @@ beating. Increased bone density of end part of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 - Increased bone density of end part of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the outermost bone of the little toe - Increased bone density of end part of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Increased bone density of end part of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - Increased bone density of end part of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 + Increased bone density of end part of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 @@ -432986,22 +435219,22 @@ beating. Small end part of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 Small end part of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Small end part of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 + Small end part of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Small end part of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 + Small end part of the outermost bone of the little toe @@ -433055,22 +435288,22 @@ beating. Speckled calcifications in the end part of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 - Speckled calcifications in the end part of the outermost bone of the little toe + Speckled calcifications in the end part of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - Speckled calcifications in the end part of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + Speckled calcifications in the end part of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Speckled calcifications in the end part of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Speckled calcifications in the end part of the outermost bone of the little toe @@ -433124,22 +435357,22 @@ beating. Triangular end part of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 - Triangular end part of the outermost bone of the pinkie toe + Triangular end part of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Triangular end part of the outermost bone of the pinky toe + Triangular end part of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triangular end part of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 @@ -433193,22 +435426,22 @@ beating. Absent end part of the middle bone of the pinky toe - Absent end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Absent end part of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 - Absent end part of the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent end part of the middle bone of the little toe - Absent end part of the middle bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent end part of the middle bone of the pinkie toe @@ -433262,22 +435495,22 @@ beating. Bracket shaped end part of the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 - Bracket shaped end part of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 + Bracket shaped end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 Bracket shaped end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Bracket shaped end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 + Bracket shaped end part of the middle bone of the pinky toe @@ -433331,22 +435564,22 @@ beating. Cone-shaped end part of the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the middle bone of the pinkie toe + Cone-shaped end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 + Cone-shaped end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 + Cone-shaped end part of the middle bone of the pinky toe @@ -433400,22 +435633,22 @@ beating. Enlarged end part of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 Enlarged end part of the middle bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Enlarged end part of the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 Enlarged end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -433469,22 +435702,22 @@ beating. Fragmentation of the end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 - Fragmentation of the end part of the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Fragmentation of the end part of the middle bone of the pinkie toe - Fragmentation of the end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Fragmentation of the end part of the middle bone of the pinky toe @@ -433538,22 +435771,22 @@ beating. Irregular end part of the middle bone of the pinkie toe - Irregular end part of the middle bone of the little toe - orcid.org/0000-0001-5208-3432 + Irregular end part of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 - Irregular end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Irregular end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 @@ -433607,22 +435840,22 @@ beating. Increased bone density of end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 Increased bone density of end part of the middle bone of the little toe - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 Increased bone density of end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -433711,22 +435944,22 @@ beating. Small end part of the middle bone of the pinky toe - Small end part of the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 + Small end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Small end part of the middle bone of the little toe + Small end part of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Small end part of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small end part of the middle bone of the pinky toe @@ -433780,22 +436013,22 @@ beating. Speckled calcifications in end part of the innermost bone of the pinky toe - Speckled calcifications in end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + Speckled calcifications in end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - Speckled calcifications in end part of the innermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + Speckled calcifications in end part of the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Speckled calcifications in end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Speckled calcifications in end part of the innermost bone of the little toe @@ -433849,22 +436082,22 @@ beating. Triangular end part of the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 Triangular end part of the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Triangular end part of the middle bone of the little toe + Triangular end part of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Triangular end part of the middle bone of the pinkie toe + Triangular end part of the middle bone of the little toe + ORCID:0000-0001-5208-3432 @@ -433918,22 +436151,22 @@ beating. Absent end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Absent end part of the innermost bone of the pinkie toe + Absent end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 + Absent end part of the innermost bone of the pinkie toe Absent end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -433987,22 +436220,22 @@ beating. Bracket shaped end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 @@ -434056,22 +436289,22 @@ beating. Cone-shaped end part of the innermost bone of the pinkie toe - Cone-shaped end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Cone-shaped end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Cone-shaped end part of the innermost bone of the pinky toe + Cone-shaped end part of the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 Cone-shaped end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -434126,21 +436359,21 @@ beating. Enlarged end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Enlarged end part of the innermost bone of the pinky toe + Enlarged end part of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 - Enlarged end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Enlarged end part of the innermost bone of the pinky toe @@ -434194,22 +436427,22 @@ beating. Fragmentation of the end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Fragmentation of the end part of the innermost bone of the little toe + Fragmentation of the end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Fragmentation of the end part of the innermost bone of the pinky toe + Fragmentation of the end part of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 Fragmentation of the end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -434263,22 +436496,22 @@ beating. Irregular end part of the innermost bone of the pinkie toe - Irregular end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Irregular end part of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 - Irregular end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Irregular end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 Irregular end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 @@ -434332,21 +436565,21 @@ beating. Increased bone density of end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 - Increased bone density of end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 + Increased bone density of end part of the innermost bone of the pinkie toe - Increased bone density of end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Increased bone density of end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density of end part of the innermost bone of the little toe @@ -434436,22 +436669,22 @@ beating. Small end part of the innermost bone of the pinkie toe - Small end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + Small end part of the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Small end part of the innermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + Small end part of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 - Small end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Small end part of the innermost bone of the pinky toe @@ -434505,22 +436738,22 @@ beating. Speckled calcifications in the end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - Speckled calcifications in the end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Speckled calcifications in the end part of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Speckled calcifications in the end part of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 + Speckled calcifications in the end part of the innermost bone of the pinkie toe @@ -434574,22 +436807,22 @@ beating. Triangular end part of the innermost bone of the pinkie toe - Triangular end part of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Triangular end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Triangular end part of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 + Triangular end part of the innermost bone of the little toe - Triangular end part of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Triangular end part of the innermost bone of the pinkie toe @@ -434635,7 +436868,7 @@ beating. Fusion involving bones of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fusion involving bones of the toes @@ -434705,8 +436938,8 @@ beating. + ORCID:0000-0001-5208-3432 Fusion involving bones of the upper limbs - orcid.org/0000-0001-5208-3432 @@ -434761,7 +436994,7 @@ beating. Fusion of joints - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -435041,12 +437274,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 doelkens human_phenotype - - HPO:skoehler - Hiccups - - - Hiccup @@ -435059,6 +437286,12 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + + HPO:skoehler + Hiccups + + + A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. HPO:sdoelken @@ -435401,15 +437634,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-6908-9849 Cleft hand - orcid.org/0000-0001-6908-9849 - - - - - - orcid.org/0000-0001-6908-9849 - Lobster claw hand @@ -435420,6 +437646,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + + ORCID:0000-0001-6908-9849 + Lobster claw hand + + + + @@ -435451,8 +437684,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Polydactyly, preaxial - HPO:skoehler Polydactyly, preaxial + HPO:skoehler @@ -435594,7 +437827,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Abnormal shape of tendon - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -435665,8 +437898,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fusion involving digits - orcid.org/0000-0001-5208-3432 Fusion involving digits + ORCID:0000-0001-5208-3432 @@ -435704,7 +437937,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Cushing's symphalangism - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -435724,8 +437957,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fusion of long bones of hand/long bones of foot + ORCID:0000-0001-5208-3432 Fusion of long bones of hand/long bones of foot - orcid.org/0000-0001-5208-3432 @@ -435753,18 +437986,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Wrist bone/ankle bone fusions - HPO:sdoelken - The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. - - - - - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Wrist bone/ankle bone fusions + + HPO:sdoelken + The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. + + + @@ -435829,16 +438062,16 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Paramedian labial pits - Depression located paramedially on the vermilion of a lip. - HPO:sdoelken + ORCID:0000-0001-5889-4463 + Paramedian labial pits - + - orcid.org/0000-0001-5889-4463 - Paramedian labial pits + Depression located paramedially on the vermilion of a lip. + HPO:sdoelken - + @@ -435955,7 +438188,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Colon tumor - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -436044,16 +438277,16 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 A small, skin-lined tract that leads from the surface to deep within the tissues. - Skin pits + Skin pit - + - Skin pit + Skin pits - + @@ -436077,41 +438310,41 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Pits around the ear - Periauricular earpits - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Pits around the ear - orcid.org/0000-0001-5889-4463 Periauricular pits + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Periauricular sinus - orcid.org/0000-0001-5889-4463 + Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. + HPO:sdoelken + + + + + ORCID:0000-0001-5889-4463 Periauricular fistulas - Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. - HPO:sdoelken + ORCID:0000-0001-5889-4463 + Periauricular earpits - + @@ -436482,8 +438715,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Muscle fibre atrophy - orcid.org/0000-0001-5208-3432 Muscle fiber degeneration + ORCID:0000-0001-5208-3432 @@ -437106,7 +439339,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent pyramidal tract - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent pyramidal tract @@ -437201,8 +439434,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. - Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf + Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. @@ -437224,12 +439457,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Milk allergy - - Cow milk allergy - - - - HPO:sdoelken Hypersensitivity in form of an adverse immune reaction against cow milk protein. @@ -437237,8 +439464,14 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-6908-9849 Milk allergy - orcid.org/0000-0001-6908-9849 + + + + + + Cow milk allergy @@ -437261,8 +439494,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused wrist bones and long bones of hand + ORCID:0000-0001-5208-3432 Fused wrist bones and long bones of hand - orcid.org/0000-0001-5208-3432 @@ -437290,8 +439523,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused bones of the midfoot + ORCID:0000-0001-6908-9849 Fused bones of the midfoot - orcid.org/0000-0001-6908-9849 @@ -437317,29 +439550,29 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Unilateral cleft upper lip - Unilateral cleft upper lip - http://orcid.org/0000-0001-5889-4463 - http://orcid.org/0000-0001-5208-3432 + A non-midline cleft of the upper lip on one side only. + HPO:probinson - + - Unilateral cheiloschisis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + One sided cleft upper lip + - A non-midline cleft of the upper lip on one side only. - HPO:probinson + Unilateral cleft upper lip + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 - + - One sided cleft upper lip - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Unilateral cheiloschisis - @@ -437359,16 +439592,16 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 One sided cleft palate - orcid.org/0000-0001-5889-4463 - One sided cleft palate + Unilateral palatoschisis + ORCID:0000-0001-5889-4463 - - Unilateral palatoschisis - orcid.org/0000-0001-5889-4463 + One sided cleft palate + ORCID:0000-0001-5889-4463 + @@ -437417,30 +439650,30 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5889-4463 - Both sided cleft lip + A non-midline cleft of the upper lip on the left and right sides. + HPO:probinson - - + - orcid.org/0000-0001-5889-4463 - Right and left cleft lip + ORCID:0000-0001-5889-4463 + Bilateral cheiloschisis - - orcid.org/0000-0001-5889-4463 - Bilateral cheiloschisis + ORCID:0000-0001-5889-4463 + Both sided cleft lip + - A non-midline cleft of the upper lip on the left and right sides. - HPO:probinson + ORCID:0000-0001-5889-4463 + Right and left cleft lip - + + @@ -437461,8 +439694,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5889-4463 Right and left cleft palate + ORCID:0000-0001-5889-4463 @@ -437474,8 +439707,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5889-4463 Bilateral palatoschisis + ORCID:0000-0001-5889-4463 @@ -437495,8 +439728,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Paramedian cleft palate - orcid.org/0000-0001-5889-4463 Paramedian cleft palate + ORCID:0000-0001-5889-4463 @@ -437876,18 +440109,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Contracture of the innermost hinge joint of the 4th toe - - Contracture of the innermost hinge joint of the 4th toe - orcid.org/0000-0001-5208-3432 - - - HPO:probinson The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. + + ORCID:0000-0001-5208-3432 + Contracture of the innermost hinge joint of the 4th toe + + + @@ -438099,8 +440332,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-6908-9849 Contracture of the outermost hinge joint of the 5th toe + ORCID:0000-0001-6908-9849 @@ -438331,7 +440564,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent digital bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent digital bone of the 3rd toe @@ -438374,7 +440607,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent bones of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -438417,22 +440650,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent pinkie toe bones - orcid.org/0000-0001-5208-3432 - Absent little toe bones + ORCID:0000-0001-5208-3432 + Absent pinky toe bones - Absent pinky toe bones - orcid.org/0000-0001-5208-3432 + Absent little toe bones + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Absent pinkie toe bones + ORCID:0000-0001-5208-3432 @@ -438482,8 +440715,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - http://orcid.org/0000-0001-5208-3432 Short 3rd toe bone + ORCID:0000-0001-5208-3432 @@ -438527,18 +440760,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Short 4th toe bone - Developmental hypoplasia of one or more phalanx of fourth toe. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short 4th toe bone + + Developmental hypoplasia of one or more phalanx of fourth toe. + HPO:probinson + + + @@ -438580,6 +440813,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Short pinky toe bone Short little toe bone + + ORCID:0000-0001-5208-3432 + Short pinkie toe bone + + + + Developmental hypoplasia of one or more phalanx of little toe. HPO:probinson @@ -438587,22 +440827,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-5208-3432 Short little toe bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short pinky toe bone - http://orcid.org/0000-0001-5208-3432 - - - - - - http://orcid.org/0000-0001-5208-3432 - Short pinkie toe bone @@ -438645,15 +440878,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent/underdeveloped outermost 3rd toe bone - orcid.org/0000-0001-5208-3432 - Absent/small outermost 3rd toe bone + Absent/underdeveloped outermost 3rd toe bone + ORCID:0000-0001-5208-3432 - Absent/underdeveloped outermost 3rd toe bone - http://orcid.org/0000-0001-5208-3432 + Absent/small outermost 3rd toe bone + ORCID:0000-0001-5208-3432 @@ -438696,15 +440929,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent/small outermost bone of 4th toe - orcid.org/0000-0001-5208-3432 Absent/small outermost bone of 4th toe + ORCID:0000-0001-5208-3432 Absent/underdeveloped outermost bone of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -438749,29 +440982,29 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent/underdeveloped outermost pinky toe bone - Absent/small outermost pinkie toe bone - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped outermost pinky toe bone + ORCID:0000-0001-5208-3432 Absent/small outermost pinky toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - Absent/small outermost little toe bone - orcid.org/0000-0001-5208-3432 + Absent/small outermost pinkie toe bone + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped outermost pinky toe bone + ORCID:0000-0001-5208-3432 + Absent/small outermost little toe bone @@ -438814,15 +441047,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent/underdeveloped middle 3rd toe bone - orcid.org/0000-0001-5208-3432 - Absent/small middle 3rd toe bone + Absent/underdeveloped middle 3rd toe bone + ORCID:0000-0001-5208-3432 - Absent/underdeveloped middle 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small middle 3rd toe bone @@ -438866,14 +441099,14 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent/small middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent/underdeveloped middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -438918,29 +441151,29 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent/underdeveloped middle bone of pinky toe - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle bone of little toe + Absent/underdeveloped middle bone of pinkie toe + ORCID:0000-0001-5208-3432 - Absent/underdeveloped middle bone of pinkie toe - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/underdeveloped middle bone of little toe - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped middle bone of pinky toe + ORCID:0000-0001-5208-3432 + Absent/small middle 5th toe bone - orcid.org/0000-0001-5208-3432 - Absent/small middle 5th toe bone + ORCID:0000-0001-5208-3432 + Absent/underdeveloped middle bone of pinky toe @@ -438990,15 +441223,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Absent/small innermost bone of 3rd toe - orcid.org/0000-0001-5208-3432 + Absent/underdeveloped innermost bone of 3rd toe + ORCID:0000-0001-5208-3432 - Absent/underdeveloped innermost bone of 3rd toe - orcid.org/0000-0001-5208-3432 + Absent/small innermost bone of 3rd toe + ORCID:0000-0001-5208-3432 @@ -439042,15 +441275,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent/underdeveloped innermost 4th toe bone - orcid.org/0000-0001-5208-3432 - Absent/small innermost 4th toe bone - - - - - + ORCID:0000-0001-5208-3432 Absent/underdeveloped innermost 4th toe bone - http://orcid.org/0000-0001-5208-3432 @@ -439061,6 +441287,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + + ORCID:0000-0001-5208-3432 + Absent/small innermost 4th toe bone + + + + @@ -439102,39 +441335,39 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent/small innermost little toe bone - orcid.org/0000-0001-5208-3432 - Absent/small innermost pinkie toe bone + Absent/small innermost pinky toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Absent/small innermost little toe bone + Absent/small innermost pinkie toe bone + ORCID:0000-0001-5208-3432 - Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe. - HPO:probinson - - - - - Absent/small innermost pinky toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent/small innermost little toe bone - orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost 5th toe bone + ORCID:0000-0001-5208-3432 + + Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe. + HPO:probinson + + + @@ -439174,8 +441407,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Absent outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -439223,16 +441456,16 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent outermost bone of the 4th toe - Absent distal phalanx of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent outermost bone of the 4th toe + - orcid.org/0000-0001-5208-3432 - Absent outermost bone of the 4th toe + Absent distal phalanx of the 4th toe + ORCID:0000-0001-5208-3432 - @@ -439273,22 +441506,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent outermost bone of the little toe - orcid.org/0000-0001-5208-3432 - Absent outermost bone of the little toe + Absent outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Absent outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Absent outermost bone of the little toe - orcid.org/0000-0001-5208-3432 - Absent outermost bone of the pinkie toe + Absent outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 @@ -439333,7 +441566,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -439381,7 +441614,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent middle bone of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -439419,27 +441652,27 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 HP:0100383 UMLS:C4022110 human_phenotype - Absent middle bone of pinky toe Absent middle bone of little toe + Absent middle bone of pinky toe Absent middle bone of pinkie toe + ORCID:0000-0001-5208-3432 Absent middle bone of pinky toe - http://orcid.org/0000-0001-5208-3432 Absent middle bone of little toe - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent middle bone of pinkie toe - http://orcid.org/0000-0001-5208-3432 @@ -439481,19 +441714,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Absent innermost bone of the 3rd toe - - Absent innermost bone of the 3rd toe - orcid.org/0000-0001-6908-9849 - - - - Absence of proximal phalanx of third toe, owing to a congenital defect of development. HPO:probinson + + Absent innermost bone of the 3rd toe + ORCID:0000-0001-6908-9849 + + + + @@ -439530,8 +441763,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent innermost bone of the 4th toe + ORCID:0000-0001-6908-9849 Absent innermost bone of the 4th toe - orcid.org/0000-0001-6908-9849 @@ -439574,22 +441807,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent innermost bone of the pinky toe - Absent innermost bone of the pinky toe - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Absent innermost bone of the little toe - Absent innermost bone of the pinkie toe - orcid.org/0000-0001-6908-9849 + Absent innermost bone of the pinky toe + ORCID:0000-0001-6908-9849 - Absent innermost bone of the little toe - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 + Absent innermost bone of the pinkie toe @@ -439631,7 +441864,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent middle toe bones - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -439673,7 +441906,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent innermost toe bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -439715,19 +441948,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Short outermost bone of the 3rd toe - - orcid.org/0000-0001-5208-3432 - Short outermost bone of the 3rd toe - - - - Developmental hypoplasia of the distal phalanx of third toe. HPO:probinson + + Short outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 + + + + @@ -439765,19 +441998,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Short outermost bone of the 4th toe - - orcid.org/0000-0001-5208-3432 - Short outermost bone of the 4th toe - - - - Developmental hypoplasia of the distal phalanx of fourth toe. HPO:sdoelken + + Short outermost bone of the 4th toe + ORCID:0000-0001-5208-3432 + + + + @@ -439818,32 +442051,32 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Short outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + Developmental hypoplasia of the distal phalanx of little toe. + HPO:sdoelken + + + + + ORCID:0000-0001-5208-3432 Short outermost bone of the little toe - orcid.org/0000-0001-5208-3432 Short outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Short outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - - Developmental hypoplasia of the distal phalanx of little toe. - HPO:sdoelken - - - @@ -439924,8 +442157,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Short middle bone of 4th toe + ORCID:0000-0001-5208-3432 Short middle bone of 4th toe - http://orcid.org/0000-0001-5208-3432 @@ -439971,33 +442204,33 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Short middle phalanx of the fifth toe UMLS:C4021003 human_phenotype - Short middle bone of pinky toe Short middle bone of pinkie toe + Short middle bone of pinky toe Short middle bone of little toe - http://orcid.org/0000-0001-5208-3432 - Short middle bone of pinky toe + Short middle bone of pinkie toe + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 Short middle bone of little toe + ORCID:0000-0001-5208-3432 - Hypoplastic/small middle phalanx of the 5th toe + ORCID:0000-0001-5208-3432 + Short middle bone of pinky toe - Short middle bone of pinkie toe - http://orcid.org/0000-0001-5208-3432 + Hypoplastic/small middle phalanx of the 5th toe @@ -440134,43 +442367,43 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Short innermost bone of little toe - Short proximal phalanx of the fifth toe + Hypoplastic/small proximal phalanx of the 5th toe - http://orcid.org/0000-0001-5208-3432 - Short innermost bone of little toe + Short innermost bone of pinky toe + ORCID:0000-0001-5208-3432 - Hypoplastic/small proximal phalanx of the 5th toe + Developmental hypoplasia of the proximal phalanx of fifth toe. + HPO:probinson - - + - http://orcid.org/0000-0001-5208-3432 - Short innermost bone of pinky toe + Short innermost bone of little toe + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 Short innermost bone of pinkie toe + ORCID:0000-0001-5208-3432 - Developmental hypoplasia of the proximal phalanx of fifth toe. - HPO:probinson + Short proximal phalanx of the fifth toe - + + @@ -440190,18 +442423,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Duplication of the outermost bone of the 3rd toe - HPO:probinson - Partial or complete duplication of distal phalanx of third toe. - - - - - orcid.org/0000-0001-5208-3432 Duplication of the outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 + + HPO:probinson + Partial or complete duplication of distal phalanx of third toe. + + + @@ -440219,19 +442452,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Duplication of the outermost bone of the 4th toe - - orcid.org/0000-0001-5208-3432 - Duplication of the outermost bone of the 4th toe - - - - HPO:sdoelken Partial or complete duplication of the distal phalanx of fourth toe. + + Duplication of the outermost bone of the 4th toe + ORCID:0000-0001-5208-3432 + + + + @@ -440253,35 +442486,35 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Duplication of the outermost bone of the fifth toe - Duplication of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Duplication of the outermost bone of the fifth toe + ORCID:0000-0001-5208-3432 - Duplication of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + HPO:sdoelken + Partial or complete duplication of the distal phalanx of little toe. - - + - orcid.org/0000-0001-5208-3432 - Duplication of the outermost bone of the fifth toe + ORCID:0000-0001-5208-3432 + Duplication of the outermost bone of the little toe - HPO:sdoelken - Partial or complete duplication of the distal phalanx of little toe. + ORCID:0000-0001-5208-3432 + Duplication of the outermost bone of the pinkie toe - + + - orcid.org/0000-0001-5208-3432 - Duplication of the outermost bone of the little toe + Duplication of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 @@ -440312,7 +442545,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Duplication of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -440335,18 +442568,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Duplication of the middle bone of the 4th toe - HPO:sdoelken - Partial or complete duplication of middle phalanx of fourth toe. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the middle bone of the 4th toe + + HPO:sdoelken + Partial or complete duplication of middle phalanx of fourth toe. + + + @@ -440368,28 +442601,28 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Duplication of the middle bone of the little toe - orcid.org/0000-0001-5208-3432 - Duplication of the middle bone of the pinky toe + HPO:probinson + Partial or complete duplication of the middle phalanx of the 5th toe. - - + - Duplication of the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Duplication of the middle bone of the pinky toe - HPO:probinson - Partial or complete duplication of the middle phalanx of the 5th toe. + ORCID:0000-0001-5208-3432 + Duplication of the middle bone of the little toe - + + - Duplication of the middle bone of the little toe - orcid.org/0000-0001-5208-3432 + Duplication of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 @@ -440414,7 +442647,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Duplication of the innermost 3rd toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -440450,7 +442683,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Duplication of the innermost 4th toe bone @@ -440482,22 +442715,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Duplication of the innermost bone of the little toe - orcid.org/0000-0001-5208-3432 + Duplication of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - Duplication of the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Duplication of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 - Duplication of the innermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Duplication of the innermost bone of the pinkie toe @@ -440538,8 +442771,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Complete duplication of the outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Complete duplication of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -440592,8 +442825,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-5208-3432 Complete duplication of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -440636,8 +442869,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Complete duplication of the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 Complete duplication of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 @@ -440649,15 +442882,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 Complete duplication of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 @@ -440698,18 +442931,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Complete duplication of the middle bone of the 3rd toe - Complete duplication of middle phalanx of third toe. - HPO:sdoelken - - - - + ORCID:0000-0001-5208-3432 Complete duplication of the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + + Complete duplication of middle phalanx of third toe. + HPO:sdoelken + + + @@ -440745,19 +442978,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Complete duplication of the middle bone of the 4th toe - - orcid.org/0000-0001-5208-3432 - Complete duplication of the middle bone of the 4th toe - - - - Complete duplication of middle phalanx of fourth toe. HPO:sdoelken + + ORCID:0000-0001-5208-3432 + Complete duplication of the middle bone of the 4th toe + + + + @@ -440776,32 +443009,32 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Complete duplication of the middle bone of the little toe - http://orcid.org/0000-0001-5208-3432 - Complete duplication of the middle bone of the little toe + Complete duplication of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Complete duplication of the middle bone of the pinky toe - - Complete duplication of the middle bone of the pinkie toe - http://orcid.org/0000-0001-5208-3432 - - - - Complete duplication of the middle phalanx of the 5th toe. HPO:probinson + + ORCID:0000-0001-5208-3432 + Complete duplication of the middle bone of the little toe + + + + @@ -440836,19 +443069,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Complete duplication of the innermost 3rd toe bone - - Complete duplication of the innermost 3rd toe bone - orcid.org/0000-0001-6908-9849 - - - - HPO:sdoelken Partial or complete duplication of proximal phalanx of third toe. + + Complete duplication of the innermost 3rd toe bone + ORCID:0000-0001-6908-9849 + + + + @@ -440863,8 +443096,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Complete duplication of the innermost 4th toe bone - orcid.org/0000-0001-6908-9849 Complete duplication of the innermost 4th toe bone + ORCID:0000-0001-6908-9849 @@ -440907,31 +443140,31 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Complete duplication of the innermost bone of the pinkie toe - http://orcid.org/0000-0001-5208-3432 - Complete duplication of the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 + Complete duplication of the innermost bone of the little toe - http://orcid.org/0000-0001-5208-3432 - Complete duplication of the innermost bone of the little toe + Complete duplication of the proximal phalanx of fifth toe. + HPO:sdoelken - - + - http://orcid.org/0000-0001-5208-3432 - Complete duplication of the innermost bone of the pinky toe + Complete duplication of the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Complete duplication of the proximal phalanx of fifth toe. - HPO:sdoelken + Complete duplication of the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - + + @@ -440955,8 +443188,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-5208-3432 Partial duplication of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -440983,7 +443216,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial duplication of the outermost bone of the fourth toe @@ -441008,39 +443241,39 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Partial duplication of the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 - Partial duplication of the outermost bone of the little toe + Partial duplication of the outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - Partial duplication of the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Partial duplication of the outermost bone of the little toe + ORCID:0000-0001-5208-3432 Partial duplication of the outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 - - HPO:sdoelken - Partial duplication of the distal phalanx of little toe. - - - Partial duplication of the outermost bone of the fifth toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:sdoelken + Partial duplication of the distal phalanx of little toe. + + + @@ -441057,18 +443290,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Partial duplication of the middle bone of 3rd toe - HPO:probinson - Partial duplication of middle phalanx of third toe. - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Partial duplication of the middle bone of 3rd toe + + HPO:probinson + Partial duplication of middle phalanx of third toe. + + + @@ -441091,8 +443324,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 Partial duplication of the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -441114,13 +443347,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Partial duplication of the middle bone of the pinkie toe Partial duplication of the middle bone of the little toe - - Partial duplication of the middle bone of the pinkie toe - http://orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Partial duplication of the middle phalanx of the 5th toe. @@ -441128,15 +443354,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - http://orcid.org/0000-0001-5208-3432 - Partial duplication of the middle bone of the little toe + ORCID:0000-0001-5208-3432 + Partial duplication of the middle bone of the pinky toe - http://orcid.org/0000-0001-5208-3432 - Partial duplication of the middle bone of the pinky toe + Partial duplication of the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Partial duplication of the middle bone of the little toe @@ -441156,19 +443389,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Partial duplication of the innermost bone of 3rd toe - - HPO:probinson - Partial duplication of proximal phalanx of third toe. - - - Partial duplication of the innermost bone of 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + HPO:probinson + Partial duplication of proximal phalanx of third toe. + + + @@ -441183,8 +443416,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Partial duplication of the innermost bone of 4th toe - orcid.org/0000-0001-5208-3432 Partial duplication of the innermost bone of 4th toe + ORCID:0000-0001-5208-3432 @@ -441207,28 +443440,28 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Partial duplication of the innermost bone of the little toe - HPO:sdoelken - Partial duplication of the proximal phalanx of fifth toe. - - - - - http://orcid.org/0000-0001-5208-3432 - Partial duplication of the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 + Partial duplication of the innermost bone of the little toe + ORCID:0000-0001-5208-3432 Partial duplication of the innermost bone of the pinky toe - http://orcid.org/0000-0001-5208-3432 - Partial duplication of the innermost bone of the little toe - http://orcid.org/0000-0001-5208-3432 + HPO:sdoelken + Partial duplication of the proximal phalanx of fifth toe. + + + + + ORCID:0000-0001-5208-3432 + Partial duplication of the innermost bone of the pinkie toe @@ -441270,7 +443503,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Broad middle 3rd toe bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -441311,7 +443544,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Broad middle 4th toe bone - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad middle 4th toe bone @@ -441356,21 +443589,21 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Broad middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - Broad middle bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Broad middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Broad middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 + Broad middle bone of the little toe @@ -441411,8 +443644,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Wide innermost bone of 3rd toe + ORCID:0000-0001-5208-3432 Wide innermost bone of 3rd toe - orcid.org/0000-0001-5208-3432 @@ -441454,7 +443687,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Wide innermost bone of 4th toe - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -441497,22 +443730,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Broad innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Broad innermost bone of the little toe + ORCID:0000-0001-5208-3432 + Broad innermost bone of the pinky toe Broad innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Broad innermost bone of the pinky toe + Broad innermost bone of the little toe + ORCID:0000-0001-5208-3432 @@ -441554,14 +443787,14 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Wide outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Wide outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad outermost bone of the 3rd toe @@ -441604,15 +443837,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Wide outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Broad outermost bone of the 4th toe + ORCID:0000-0001-5208-3432 Wide outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 @@ -441656,29 +443889,29 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Broad outermost bone of the 5th toe - Wide outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Wide outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - Wide outermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Broad outermost bone of the 5th toe - orcid.org/0000-0001-5208-3432 - Wide outermost bone of the pinky toe + Wide outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Broad outermost bone of the 5th toe + ORCID:0000-0001-5208-3432 + Wide outermost bone of the little toe @@ -441698,18 +443931,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Bullet-shaped middle bone of the 3rd toe - An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Bullet-shaped middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + + An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:probinson + + + @@ -441725,18 +443958,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Bullet-shaped middle bone of the 4th toe - An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Bullet-shaped middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 + + An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:probinson + + + @@ -441754,31 +443987,31 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Bullet-shaped middle bone of the pinkie toe - An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:probinson + Bullet-shaped middle bone of the pinky toe + ORCID:0000-0001-5208-3432 - + + - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped middle bone of the little toe - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Bullet-shaped middle bone of the pinkie toe - http://orcid.org/0000-0001-5208-3432 - Bullet-shaped middle bone of the pinky toe + An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:probinson - - + @@ -441795,19 +444028,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Bullet-shaped proximal bone of the 3rd toe - - orcid.org/0000-0001-5208-3432 - Bullet-shaped proximal bone of the 3rd toe - - - - An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bullet-shaped proximal bone of the 3rd toe + + + + @@ -441824,18 +444057,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Bullet-shaped proximal bone of the 4th toe - An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Bullet-shaped proximal bone of the 4th toe - orcid.org/0000-0001-5208-3432 + + An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:probinson + + + @@ -441854,28 +444087,28 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Bullet-shaped innermost bone of little toe - http://orcid.org/0000-0001-5208-3432 - Bullet-shaped innermost bone of pinky toe + An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. + HPO:probinson - - + - Bullet-shaped innermost bone of little toe - http://orcid.org/0000-0001-5208-3432 + Bullet-shaped innermost bone of pinky toe + ORCID:0000-0001-5208-3432 - An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. - HPO:probinson + ORCID:0000-0001-5208-3432 + Bullet-shaped innermost bone of pinkie toe - + + - http://orcid.org/0000-0001-5208-3432 - Bullet-shaped innermost bone of pinkie toe + ORCID:0000-0001-5208-3432 + Bullet-shaped innermost bone of little toe @@ -441894,19 +444127,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Bullet-shaped outermost bone of the 3rd toe - - orcid.org/0000-0001-5208-3432 - Bullet-shaped outermost bone of the 3rd toe - - - - An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bullet-shaped outermost bone of the 3rd toe + + + + @@ -441921,19 +444154,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Bullet-shaped outermost bone of the 4th toe - - Bullet-shaped outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 - - - - An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HPO:probinson + + ORCID:0000-0001-5208-3432 + Bullet-shaped outermost bone of the 4th toe + + + + @@ -441951,15 +444184,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Bullet-shaped outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 Bullet-shaped outermost bone of the little toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Bullet-shaped outermost bone of the pinkie toe + Bullet-shaped outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 @@ -441971,8 +444204,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 - Bullet-shaped outermost bone of the pinky toe + Bullet-shaped outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 @@ -442013,19 +444246,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Curved middle bone of 3rd toe - - orcid.org/0000-0001-5208-3432 - Curved middle bone of 3rd toe - - - - A deviation from the normal straight form of the middle phalanx of the third toe. HPO:probinson + + Curved middle bone of 3rd toe + ORCID:0000-0001-5208-3432 + + + + @@ -442062,19 +444295,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Curved middle bone of 4th toe - - orcid.org/0000-0001-5208-3432 - Curved middle bone of 4th toe - - - - A deviation from the normal straight form of the middle phalanx of the fourth toe. HPO:probinson + + ORCID:0000-0001-5208-3432 + Curved middle bone of 4th toe + + + + @@ -442113,13 +444346,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Curved middle bone of pinkie toe Curved middle bone of pinky toe - - orcid.org/0000-0001-5208-3432 - Curved middle bone of pinkie toe - - - - A deviation from the normal straight form of the middle phalanx of the fifth toe. HPO:probinson @@ -442127,15 +444353,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-5208-3432 Curved middle bone of pinky toe - orcid.org/0000-0001-5208-3432 + + + + + + Curved middle bone of pinkie toe + ORCID:0000-0001-5208-3432 Curved middle bone of little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -442176,19 +444409,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Curved innermost bone of 3rd toe - - orcid.org/0000-0001-5208-3432 - Curved innermost bone of 3rd toe - - - - A deviation from the normal straight form of the proximal phalanx of the third toe. HPO:probinson + + ORCID:0000-0001-5208-3432 + Curved innermost bone of 3rd toe + + + + @@ -442225,19 +444458,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Curved innermost bone of the 4th toe - - Curved innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 - - - - A deviation from the normal straight form of the proximal phalanx of the fourth toe. HPO:probinson + + Curved innermost bone of the 4th toe + ORCID:0000-0001-5208-3432 + + + + @@ -442277,8 +444510,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Curved innermost pinkie toe bone + ORCID:0000-0001-5208-3432 + Curved innermost pinkie toe bone + + + + + + ORCID:0000-0001-5208-3432 Curved innermost little toe bone - orcid.org/0000-0001-5208-3432 @@ -442290,14 +444530,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Curved innermost pinkie toe bone - orcid.org/0000-0001-5208-3432 - - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved innermost pinky toe bone @@ -442340,18 +444573,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Curved outermost bone of the 3rd toe - A deviation from the normal straight form of the distal phalanx of the third toe. - HPO:probinson - - - - + ORCID:0000-0001-5208-3432 Curved outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + + A deviation from the normal straight form of the distal phalanx of the third toe. + HPO:probinson + + + @@ -442388,19 +444621,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Curved outermost bone of the 4th toe - - Curved outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 - - - - A deviation from the normal straight form of the distal phalanx of the fourth toe. HPO:probinson + + ORCID:0000-0001-5208-3432 + Curved outermost bone of the 4th toe + + + + @@ -442440,21 +444673,14 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Curved outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 Curved outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 - - - - - - Curved outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Curved outermost bone of the little toe @@ -442466,6 +444692,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + + ORCID:0000-0001-5208-3432 + Curved outermost bone of the pinkie toe + + + + @@ -442553,7 +444786,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Osteolytic defects of the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -442572,7 +444805,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Osteolytic defects of the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -442590,8 +444823,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Osteolytic defects of the outermost bone of the 5th toe - orcid.org/0000-0001-5208-3432 Osteolytic defects of the outermost bone of the 5th toe + ORCID:0000-0001-5208-3432 @@ -442645,8 +444878,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Uneven increase in bone density in the middle bone of the 3rd toe + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the middle bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -442703,7 +444936,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Uneven increase in bone density in middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -442767,31 +445000,31 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Uneven increase in bone density in the middle bone of the pinkie toe - Uneven increase in bone density in the middle bone of the pinky toe - orcid.org/0000-0001-5208-3432 + Uneven increase in bone density in the middle bone of the little toe + ORCID:0000-0001-5208-3432 - Uneven increase in bone density in the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + HPO:probinson + Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. - - + - Uneven increase in bone density in the middle bone of the little toe - orcid.org/0000-0001-5208-3432 + Uneven increase in bone density in the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 - HPO:probinson - Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. + Uneven increase in bone density in the middle bone of the pinkie toe + ORCID:0000-0001-5208-3432 - + + @@ -442843,7 +445076,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Uneven increase in bone density in the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of the 3rd toe @@ -442907,7 +445140,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Uneven increase in bone density in the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -442965,28 +445198,28 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Uneven increase in bone density in the innermost bone of the pinkie toe - HPO:probinson - Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the innermost bone of the little toe - + + - Uneven increase in bone density in the innermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 + HPO:probinson + Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. - - + - orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in the innermost bone of the little toe + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the innermost bone of the pinky toe @@ -443041,8 +445274,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Uneven increase in bone density in the outermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -443097,18 +445330,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Uneven increase in bone density in the outermost bone of the 4th toe - - orcid.org/0000-0001-5208-3432 - Uneven increase in bone density in the outermost bone of the 4th toe - - - HPO:probinson Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. + + ORCID:0000-0001-5208-3432 + Uneven increase in bone density in the outermost bone of the 4th toe + + + @@ -443162,32 +445395,32 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Uneven increase in bone density in the outermost pinkie toe bone - HPO:probinson - Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. - - - - + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the outermost pinky toe bone - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the outermost little toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Uneven increase in bone density in the outermost pinkie toe bone + + HPO:probinson + Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. + + + @@ -443202,8 +445435,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused middle bones of 3rd toe - orcid.org/0000-0001-5208-3432 Fused middle bones of 3rd toe + ORCID:0000-0001-5208-3432 @@ -443222,7 +445455,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused middle bones of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused middle bones of 4th toe @@ -443242,7 +445475,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused middle bones of 5th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused middle bones of 5th toe @@ -443263,7 +445496,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost bone of 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -443283,7 +445516,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost bones of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -443304,22 +445537,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost bone of little toe - Fused innermost bone of little toe - orcid.org/0000-0001-5208-3432 + Fused innermost bone of pinky toe + ORCID:0000-0001-5208-3432 - Fused innermost bone of pinky toe - orcid.org/0000-0001-5208-3432 + Fused innermost bone of little toe + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused innermost bone of pinkie toe - orcid.org/0000-0001-5208-3432 @@ -443339,8 +445572,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused outermost bone of 3rd toe - orcid.org/0000-0001-5208-3432 Fused outermost bone of 3rd toe + ORCID:0000-0001-5208-3432 @@ -443361,7 +445594,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -443383,22 +445616,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused outermost bones of the little toe - orcid.org/0000-0001-5208-3432 - Fused outermost bones of the little toe + Fused outermost bones of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Fused outermost bones of the pinky toe + ORCID:0000-0001-5208-3432 + Fused outermost bones of the little toe - orcid.org/0000-0001-5208-3432 Fused outermost bones of the pinkie toe + ORCID:0000-0001-5208-3432 @@ -443422,18 +445655,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost and middle bones of 3rd toe - Bony fusion of the middle and proximal phalanges of the 3rd toe. - HPO:sdoelken - - - - + ORCID:0000-0001-5208-3432 Fused innermost and middle bones of 3rd toe - orcid.org/0000-0001-5208-3432 + + Bony fusion of the middle and proximal phalanges of the 3rd toe. + HPO:sdoelken + + + @@ -443453,7 +445686,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost and middle bones of 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused innermost and middle bones of 4th toe @@ -443486,8 +445719,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost and middle little toe bones - http://orcid.org/0000-0001-5208-3432 - Fused innermost and middle little toe bones + Fused innermost and middle pinkie toe bones + ORCID:0000-0001-5208-3432 @@ -443499,15 +445732,15 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Fused innermost and middle pinkie toe bones - http://orcid.org/0000-0001-5208-3432 + Fused innermost and middle pinky toe bones + ORCID:0000-0001-5208-3432 - Fused innermost and middle pinky toe bones - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Fused innermost and middle little toe bones @@ -443528,8 +445761,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost bone of 2nd toe with the 2nd long bone of foot + ORCID:0000-0001-5208-3432 Fused innermost bone of 2nd toe with the 2nd long bone of foot - orcid.org/0000-0001-5208-3432 @@ -443551,7 +445784,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost bones of third toe with 3rd long bone of foot - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -443572,8 +445805,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost bone of the 4th toe with 4th long bone of foot + ORCID:0000-0001-5208-3432 Fused innermost bone of the 4th toe with 4th long bone of foot - orcid.org/0000-0001-5208-3432 @@ -443595,7 +445828,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fused innermost pinky toe bone with the 5th long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -443616,22 +445849,22 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Triangular shaped outermost bone of the little toe + ORCID:0000-0001-5208-3432 Triangular shaped outermost bone of the pinky toe - orcid.org/0000-0001-5208-3432 - Triangular shaped outermost bone of the little toe - orcid.org/0000-0001-5208-3432 + Triangular shaped outermost bone of the pinkie toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Triangular shaped outermost bone of the pinkie toe + Triangular shaped outermost bone of the little toe + ORCID:0000-0001-5208-3432 @@ -443656,8 +445889,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fusion of the innermost big toe bone with the 1st long bone of foot - orcid.org/0000-0001-5208-3432 Fusion of the innermost big toe bone with the 1st long bone of foot + ORCID:0000-0001-5208-3432 @@ -443690,7 +445923,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Fused middle and innermost bones of 2nd toe @@ -443795,13 +446028,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Abnormality of the joints of the lower limbs - Abnormality of lower limb joint + Abnormality of the joints of the lower limbs - Abnormality of the joints of the lower limbs + Abnormality of lower limb joint @@ -444322,16 +446555,16 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. - Abnormality of vitamin metabolism + HPO:probinson + An anomaly in the metabolism of a vitamin. - - + - An anomaly in the metabolism of a vitamin. - HPO:probinson + Abnormality of vitamin metabolism - + + @@ -444497,13 +446730,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Deficient in vitamin D - Vitamin D deficiency + Deficient in vitamin D - Deficient in vitamin D + Vitamin D deficiency @@ -444611,6 +446844,12 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Frequent urination Constant urination + + Constant urination + + + + Frequent urination @@ -444623,12 +446862,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - - Constant urination - - - - @@ -444761,12 +446994,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Painful or difficult urination Dull burning sensation with urination - - HPO:probinson - Painful or difficult urination. - - - Dull burning sensation with urination @@ -444774,7 +447001,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 + HPO:probinson + Painful or difficult urination. + + + + + ORCID:0000-0001-5208-3432 Painful or difficult urination @@ -444818,19 +447051,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Absent urine output - - Absence of urine, clinically classified as below 50ml/day. - HPO:sdoelken - - - Absent urine output - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Absence of urine, clinically classified as below 50ml/day. + HPO:sdoelken + + + @@ -444992,8 +447225,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - + 2010-12-20T11:13:14Z HP:0100523 Hepatic abscess @@ -445006,18 +447239,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype HP:0001400 - - Liver abscess - - - - HPO:probinson The presence of an abscess of the liver. + + Liver abscess + + + + @@ -445167,10 +447400,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Lung cancer - HPO:probinson - Tumor of the lung. + Lung cancer - + + Lung tumor @@ -445179,10 +447412,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Lung cancer + HPO:probinson + Tumor of the lung. - - + @@ -445346,18 +447579,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 doelkens human_phenotype - - HPO:sdoelken - The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. - - - Wind-swept deformity of the knees + + HPO:sdoelken + The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. + + + @@ -445379,19 +447612,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Inflammation of the outer white part of the eye - - Inflammation of the outer white part of the eye - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Inflammation of the sclera. + + Inflammation of the outer white part of the eye + ORCID:0000-0001-5208-3432 + + + + @@ -445584,13 +447817,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Inflammation of the fascia - - Inflammation of the fascia - orcid.org/0000-0001-5208-3432 - - - - HPO:skoehler @@ -445626,6 +447852,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + + ORCID:0000-0001-5208-3432 + Inflammation of the fascia + + + + HPO:probinson Inflammation of fascia, the tissue under the skin and over the muscle. @@ -445653,15 +447886,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Malformation of the supraorbital ridges - Abnormality of the brow of the face - orcid.org/0000-0001-5889-4463 - - - - - - orcid.org/0000-0001-5889-4463 - Malformation of the supraorbital ridges + ORCID:0000-0001-5889-4463 + Deformity of the supraorbital ridges @@ -445672,20 +447898,27 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Deformity of the supraorbital margins - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Abnormality of the brow of the face + + + + + + ORCID:0000-0001-5889-4463 + Malformation of the supraorbital ridges - Malformation of the supraorbital margins - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the supraorbital margins - orcid.org/0000-0001-5889-4463 - Deformity of the supraorbital ridges + Malformation of the supraorbital margins + ORCID:0000-0001-5889-4463 @@ -445736,27 +447969,21 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Puffiness around the eyes - Puffy eyes - - - - - - orcid.org/0000-0001-5889-4463 - Periorbital swelling + ORCID:0000-0001-5889-4463 + Periorbital cellulitis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Swelling around the eyes - orcid.org/0000-0001-5889-4463 Puffiness around the eyes + ORCID:0000-0001-5889-4463 @@ -445768,8 +447995,14 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Periorbital cellulitis - orcid.org/0000-0001-5889-4463 + Puffy eyes + + + + + + Periorbital swelling + ORCID:0000-0001-5889-4463 @@ -445817,12 +448050,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Fullness of eyelids Swelling of eyelids - - Puffy eyelids - - - - Edema in the region of the eyelids. HPO:probinson @@ -445830,21 +448057,27 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Swelling of eyelids - orcid.org/0000-0001-5889-4463 + Puffy lids - Puffy lids + Puffy eyelids + ORCID:0000-0001-5889-4463 Fullness of eyelids - orcid.org/0000-0001-5889-4463 + + + + + + ORCID:0000-0001-5889-4463 + Swelling of eyelids @@ -445870,18 +448103,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype - - A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. - HPO:sdoelken - - - Femoral hernia MEDDRA:10016434 + + A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. + HPO:sdoelken + + + @@ -445918,18 +448151,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 doelkens human_phenotype - - An abnormal site of the kidney. - HPO:probinson - - - Abnormal localisation of kidneys + + An abnormal site of the kidney. + HPO:probinson + + + @@ -445984,43 +448217,43 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype - Cognitive deficits + Intellectual impairment - Mental impairment + Cognitive impairment - Cognitive defects + Cognitive deficits - Abnormality in the process of thought including the ability to process information. - HPO:sdoelken + Cognitive abnormality - + + - Intellectual impairment + Abnormality in the process of thought including the ability to process information. + HPO:sdoelken - - + - Cognitive abnormality + Cognitive defects - Cognitive impairment + Mental impairment @@ -446089,8 +448322,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 Heart tumor + ORCID:0000-0001-5208-3432 @@ -446139,7 +448372,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Narrowing of an artery @@ -446174,7 +448407,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Narrowing of carotid artery - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -446217,18 +448450,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Abnormal shape of forebrain - An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal shape of forebrain + + An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. + HPO:probinson + + + @@ -446278,10 +448511,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Breakage (tear) of a tendon. - HPO:probinson + Ruptured tendon - + + Tendon rupture @@ -446290,10 +448523,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Ruptured tendon + Breakage (tear) of a tendon. + HPO:probinson - - + @@ -446433,19 +448666,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Overgrowth of one leg - - Overgrowth of one leg - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Overgrowth of only one leg. + + Overgrowth of one leg + ORCID:0000-0001-5208-3432 + + + + @@ -446490,18 +448723,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Overgrowth of one arm - HPO:probinson - Overgrowth of only one arm. - - - - + ORCID:0000-0001-5208-3432 Overgrowth of one arm - orcid.org/0000-0001-5208-3432 + + HPO:probinson + Overgrowth of only one arm. + + + @@ -446642,19 +448875,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Asymmetric lower limb shortening - - Asymmetric lower limb shortening - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson Unilateral atrophy (reduction in size) of a leg. + + ORCID:0000-0001-5208-3432 + Asymmetric lower limb shortening + + + + @@ -446700,7 +448933,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Asymmetric upper limb shortening - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Asymmetric upper limb shortening @@ -446844,8 +449077,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-5208-3432 Duplication of spinal cord - orcid.org/0000-0001-5208-3432 @@ -446894,7 +449127,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Triplication of spinal cord @@ -446941,18 +449174,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Absent spinal cord - Congenital absence of the spinal cord. - HPO:sdoelken - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Absent spinal cord + + Congenital absence of the spinal cord. + HPO:sdoelken + + + @@ -447058,18 +449291,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Abnormal bone maturation of vertebra - An abnormality of the formation and mineralization of one or more vertebrae. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Abnormal bone maturation of vertebra + ORCID:0000-0001-5208-3432 + + An abnormality of the formation and mineralization of one or more vertebrae. + HPO:probinson + + + @@ -447090,18 +449323,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 doelkens human_phenotype - - A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. - HPO:sdoelkens - - - Carcinoid tumors HPO:skoehler + + A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. + HPO:sdoelkens + + + @@ -447348,18 +449581,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 doelkens human_phenotype - - Urinary bladder inflammation - - - - HPO:probinson Inflammation of the urinary bladder. + + Urinary bladder inflammation + + + + @@ -447470,8 +449703,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-5208-3432 Barret syndrome - orcid.org/0000-0001-5208-3432 @@ -447521,7 +449754,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Polys of nose - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -448000,8 +450233,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-5889-4463 Missing nostrils - orcid.org/0000-0001-5889-4463 @@ -448049,24 +450282,24 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Pulmonary oedema - orcid.org/0000-0001-5208-3432 - Excess fluid in lungs + Fluid accumulation in the lungs. + HPO:sdoelken - - + - orcid.org/0000-0001-5208-3432 Wet lung + ORCID:0000-0001-5208-3432 - Fluid accumulation in the lungs. - HPO:sdoelken + ORCID:0000-0001-5208-3432 + Excess fluid in lungs - + + @@ -448251,18 +450484,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Lip tumor - A tumor (abnormal growth of tissue) of the lip. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Lip tumor + + A tumor (abnormal growth of tissue) of the lip. + HPO:probinson + + + Tumor of the lip @@ -448366,19 +450599,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Respiratory system tumor - - orcid.org/0000-0001-5208-3432 - Respiratory system tumor - - - - A tumor (abnormal growth of tissue) of the respiratory system. HPO:probinson + + Respiratory system tumor + ORCID:0000-0001-5208-3432 + + + + @@ -448400,8 +450633,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Painful menstruation + ORCID:0000-0001-5208-3432 Painful menstruation - http://orcid.org/0000-0001-5208-3432 @@ -448439,8 +450672,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 Abnormal uterus bleeding + ORCID:0000-0001-5208-3432 @@ -448452,9 +450685,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 obsolete Hypermenorrhea - 2010-12-27T06:16:02Z HP:0100609 - doelkens true HP:0000132 @@ -448482,8 +450713,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 + ORCID:0000-0001-5208-3432 High blood phenylalanine level in mother - orcid.org/0000-0001-5208-3432 @@ -448576,18 +450807,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Death between the age of 16 and 40 years. - - Death between the age of 16 and 40 years. - HPO:probinson - - - Death in early adulthood + + HPO:probinson + Death between the age of 16 and 40 years. + + + @@ -448647,7 +450878,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Muscle inflammation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -448705,6 +450936,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Ovarian cancer Ovarian tumor + + Ovarian tumor + ORCID:0000-0001-5208-3432 + + + + Ovarian cancer @@ -448717,13 +450955,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - - Ovarian tumor - orcid.org/0000-0001-5208-3432 - - - - @@ -449137,8 +451368,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Chronic liver failure - orcid.org/0000-0001-5208-3432 Chronic liver failure + ORCID:0000-0001-5208-3432 @@ -449239,8 +451470,8 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5889-4463 Tessier facial cleft number 14 + ORCID:0000-0001-5889-4463 @@ -449251,7 +451482,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Tessier facial cleft number 0 @@ -449308,7 +451539,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Tumor of the nasopharynx - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -449415,18 +451646,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Oesophagitis - MEDDRA:10030216 - - - - - orcid.org/0000-0001-5208-3432 Inflammation of the esophagus + ORCID:0000-0001-5208-3432 + + Oesophagitis + MEDDRA:10030216 + + + HPO:probinson Inflammation of the esophagus. @@ -449516,9 +451747,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 obsolete Neoplasia of the nose - 2010-12-29T05:31:36Z HP:0100637 - doelkens true HP:0012720 @@ -449575,7 +451804,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 HP:0030073 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Tumor of the pharynx @@ -449597,13 +451826,13 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Abnormal erection - Erectile abnormalities + Abnormal erection - Abnormal erection + Erectile abnormalities @@ -449808,10 +452037,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype - An anomaly of the color of the nail. - HPO:probinson + Abnormality of nail colour - + + Abnormality of nail color @@ -449820,10 +452049,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Abnormality of nail colour + An anomaly of the color of the nail. + HPO:probinson - - + @@ -449877,6 +452106,12 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Bladder hernia Prolapsed bladder + + Anterior vaginal wall prolapse with bulging of the bladder into the vagina. + HPO:sdoelken + + + Bladder hernia @@ -449889,12 +452124,6 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - - Anterior vaginal wall prolapse with bulging of the bladder into the vagina. - HPO:sdoelken - - - @@ -449944,19 +452173,19 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 human_phenotype Thyroid gland inflammation - - orcid.org/0000-0001-5208-3432 - Thyroid gland inflammation - - - - HPO:probinson Inflammation of the thyroid gland. + + Thyroid gland inflammation + ORCID:0000-0001-5208-3432 + + + + @@ -450094,42 +452323,42 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Neoplasm of the mouth - orcid.org/0000-0001-5889-4463 - Tumor of mouth + A tumor (abnormal growth of tissue) of the oral cavity. + HPO:probinson - - + - orcid.org/0000-0001-5889-4463 - Lesion of mouth + ORCID:0000-0001-5889-4463 + Lesion of oral cavity - A tumor (abnormal growth of tissue) of the oral cavity. - HPO:probinson + ORCID:0000-0001-5889-4463 + Tumor of oral cavity - + + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Neoplasm of the mouth - Tumor of oral cavity - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Lesion of mouth - - + - orcid.org/0000-0001-5889-4463 - Lesion of oral cavity + ORCID:0000-0001-5889-4463 + Tumor of mouth - + + @@ -450183,18 +452412,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Vaginal tumor - A tumor (abnormal growth of tissue) of the vagina. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Vaginal tumor + + A tumor (abnormal growth of tissue) of the vagina. + HPO:probinson + + + @@ -450225,10 +452454,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - HPO:skoehler - Insulin-dependent diabetes mellitus + Type 1 diabetes - + + Type I diabetes @@ -450237,10 +452466,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Type 1 diabetes + HPO:skoehler + Insulin-dependent diabetes mellitus - - + @@ -450390,14 +452619,14 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - orcid.org/0000-0001-5208-3432 - Bacterial infection of skin + Skin infection - Skin infection + ORCID:0000-0001-5208-3432 + Bacterial infection of skin @@ -450450,7 +452679,7 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Abnormality of the cerebral blood vessels - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -450474,18 +452703,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 doelkens human_phenotype - - Dyskinesias - HPO:skoehler - - - A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. HPO:sdoelken + + Dyskinesias + HPO:skoehler + + + @@ -450558,18 +452787,18 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 doelkens human_phenotype - - Cartilage inflammation - - - - HPO:sdoelken Inflammation of cartilage. + + Cartilage inflammation + + + + @@ -450730,23 +452959,23 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Abnormal color of the oral mucosa - Abnormal color of the oral mucosa - orcid.org/0000-0001-5889-4463 + An abnormality of the pigmentation of the mucosa of the mouth. + HPO:probinson - - + - orcid.org/0000-0001-5889-4463 Abnormal pigmentation of oral mucous membrane + ORCID:0000-0001-5889-4463 - An abnormality of the pigmentation of the mucosa of the mouth. - HPO:probinson + Abnormal color of the oral mucosa + ORCID:0000-0001-5889-4463 - + + @@ -450801,16 +453030,16 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 Abnormal shape of spongy bone - Abnormal structure or form of trabecular bone. - HPO:probinson + Abnormal shape of spongy bone + ORCID:0000-0001-5208-3432 - + - orcid.org/0000-0001-5208-3432 - Abnormal shape of spongy bone + Abnormal structure or form of trabecular bone. + HPO:probinson - + @@ -450965,16 +453194,10 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - Wrinkled skin - - - - - - Premature skin wrinkling + HPO:probinson + The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. - - + Skin wrinkling @@ -450983,10 +453206,16 @@ Risk factors for desmoid disease amongst FAP patients include female gender, a 3 - HPO:probinson - The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. + Premature skin wrinkling - + + + + + Wrinkled skin + + + @@ -451158,6 +453387,13 @@ mask. Tumor of salivary gland Cancer of salivary gland + + Tumor of salivary gland + ORCID:0000-0001-5889-4463 + + + + A tumor (abnormal growth of tissue) of a salivary gland. HPO:probinson @@ -451165,26 +453401,19 @@ mask. + ORCID:0000-0001-5889-4463 Cancer of salivary gland - orcid.org/0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Tumor of salivary gland - - - - - Abnormality of Sharpey fibers + Abnormal Sharpey fiber morphology 2010-12-30T02:25:32Z An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. @@ -451194,6 +453423,7 @@ mask. UMLS:C4021997 doelkens human_phenotype + Abnormality of Sharpey fibers An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. @@ -451276,18 +453506,18 @@ mask. doelkens human_phenotype - - Thin cornea - - - - A decreased anteroposterior thickness of the cornea. HPO:gblack + + Thin cornea + + + + @@ -451560,16 +453790,16 @@ mask. Scar tissue - Scarring + Scar tissue - + - Scar tissue + Scarring - + @@ -451673,18 +453903,18 @@ mask. doelkens human_phenotype - - An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. - HPO:sdoelken - - - Arachnoid cysts HPO:skoehler + + An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. + HPO:sdoelken + + + @@ -451733,6 +453963,12 @@ mask. The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. Cortical/cerebral visual impairment + + CVI + + + + A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. HPO:probinson @@ -451740,12 +453976,6 @@ mask. - - CVI - - - - @@ -451998,8 +454228,8 @@ mask. - Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. PMID:23902698 + Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. @@ -452109,10 +454339,10 @@ mask. Self-harm - Self-injurious behaviour + Aggression towards oneself. + HPO:sdoelken - - + HPO:skoehler @@ -452128,10 +454358,10 @@ mask. - Aggression towards oneself. - HPO:sdoelken + Self-injurious behaviour - + + @@ -452250,7 +454480,7 @@ mask. Underdeveloped ear cartilage - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Underdeveloped ear cartilage @@ -452482,22 +454712,22 @@ mask. Large facies + ORCID:0000-0001-5889-4463 Big face - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Large facies + Large face + - Large face + Large facies + ORCID:0000-0001-5889-4463 - @@ -452547,8 +454777,8 @@ mask. Tessier facial cleft number 8 - orcid.org/0000-0001-5889-4463 - Tessier facial cleft number 6 + ORCID:0000-0001-5889-4463 + Tessier facial cleft number 8 @@ -452559,8 +454789,8 @@ mask. - orcid.org/0000-0001-5889-4463 - Tessier facial cleft number 8 + ORCID:0000-0001-5889-4463 + Tessier facial cleft number 6 @@ -452683,8 +454913,8 @@ mask. Abnormality of the vertebral epiphyses + ORCID:0000-0001-5208-3432 Abnormal shape of the end part of the vertebra bone - orcid.org/0000-0001-5208-3432 @@ -452743,28 +454973,28 @@ mask. Abnormality of the velum palatinum - orcid.org/0000-0001-5889-4463 - Abnormality of the velum + An abnormality of the soft palate. + HPO:probinson - + - Abnormality of the muscular palate - orcid.org/0000-0001-5889-4463 + Abnormality of the velum palatinum + HPO:skoehler - HPO:skoehler - Abnormality of the velum palatinum + Abnormality of the muscular palate + ORCID:0000-0001-5889-4463 - An abnormality of the soft palate. - HPO:probinson + Abnormality of the velum + ORCID:0000-0001-5889-4463 - + @@ -452802,7 +455032,7 @@ mask. Abnormality of the secondary palate - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of the secondary palate @@ -452868,6 +455098,13 @@ mask. human_phenotype Binge and purge + + ORCID:0000-0001-5208-3432 + Binge and purge + + + + A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). HPO:probinson @@ -452875,13 +455112,6 @@ mask. - - Binge and purge - orcid.org/0000-0001-5208-3432 - - - - @@ -452942,8 +455172,8 @@ mask. + ORCID:0000-0001-5208-3432 Blood vessel tumor - orcid.org/0000-0001-5208-3432 @@ -452997,8 +455227,8 @@ mask. Rectal tumor - orcid.org/0000-0001-5208-3432 Rectal tumor + ORCID:0000-0001-5208-3432 @@ -453263,7 +455493,7 @@ mask. A tumor (abnormal growth of tissue) of the esophagus. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Esophageal tumor @@ -453288,8 +455518,8 @@ mask. Hepatic anomalous lobulation - HPO:probinson Formation of abnormal lobules (small masses of tissue) in the liver. + HPO:probinson @@ -453385,8 +455615,8 @@ mask. Abnormal spit - orcid.org/0000-0001-5889-4463 Abnormal spit + ORCID:0000-0001-5889-4463 @@ -453470,7 +455700,7 @@ mask. - Clubbing (hands) + Finger clubbing @@ -453494,7 +455724,7 @@ mask. - Finger clubbing + Clubbing (hands) @@ -453675,9 +455905,9 @@ mask. Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. - Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. - HPO:probinson PMID:12376602 + HPO:probinson + Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. @@ -453876,19 +456106,19 @@ mask. Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. - Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. - HPO:probinson - - - - - http://orcid.org/0000-0001-5208-3432 Stomach churning + ORCID:0000-0001-5208-3432 http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html + + Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. + HPO:probinson + + + @@ -453907,18 +456137,18 @@ mask. human_phenotype Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. - - HPO:skoehler - Intestinal hypoperistalsis - - - HPO:probinson Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. + + HPO:skoehler + Intestinal hypoperistalsis + + + @@ -453982,8 +456212,8 @@ mask. Bone overgrowth + ORCID:0000-0001-5208-3432 Bone overgrowth - http://orcid.org/0000-0001-5208-3432 @@ -454042,7 +456272,7 @@ mask. Recurrent sore throat - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -454313,7 +456543,7 @@ mask. Excessive sleepiness - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -454378,7 +456608,8 @@ mask. - Fused lips + Adhesion of upper and lower lips + ORCID:0000-0001-5889-4463 @@ -454390,14 +456621,13 @@ mask. - Adhesion of upper and lower lips - orcid.org/0000-0001-5889-4463 + Fused lips - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Fusion of upper and lower lips @@ -454430,16 +456660,16 @@ mask. - orcid.org/0000-0001-5889-4463 Maxillary torus + ORCID:0000-0001-5889-4463 - HPO:skoehler - Prominent midpalatal ridge + ORCID:0000-0001-5889-4463 + Palatal torus - + A bony protrusion present on the midline of the hard palate. @@ -454448,16 +456678,16 @@ mask. - orcid.org/0000-0001-5889-4463 - Palatal torus + Palatal tori + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Palatal tori + HPO:skoehler + Prominent midpalatal ridge - + @@ -454547,18 +456777,18 @@ mask. human_phenotype - - HPO:sdoelken - The absence of the normal curvature of the vertebral column. - - - Abnormally straight spine + + HPO:sdoelken + The absence of the normal curvature of the vertebral column. + + + @@ -454577,19 +456807,19 @@ mask. human_phenotype Inflammation of testicles - - orcid.org/0000-0001-5208-3432 - Inflammation of testicles - - - - HPO:sdoelken Testicular inflammation. + + Inflammation of testicles + ORCID:0000-0001-5208-3432 + + + + @@ -454628,19 +456858,19 @@ mask. human_phenotype Abnormal toenail development - - orcid.org/0000-0001-5208-3432 - Abnormal toenail development - - - - An abnormality of the development of the toenails. HPO:probinson + + ORCID:0000-0001-5208-3432 + Abnormal toenail development + + + + @@ -454667,7 +456897,7 @@ mask. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal fingernail development @@ -454729,7 +456959,7 @@ mask. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Middle ear tumor @@ -454772,13 +457002,6 @@ mask. Absent/underdeveloped pancreas Absent/small pancreas - - http://orcid.org/0000-0001-5208-3432 - Absent/underdeveloped pancreas - - - - A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. HPO:sdoelken @@ -454786,8 +457009,15 @@ mask. - http://orcid.org/0000-0001-5208-3432 Absent/small pancreas + ORCID:0000-0001-5208-3432 + + + + + + ORCID:0000-0001-5208-3432 + Absent/underdeveloped pancreas @@ -454828,19 +457058,19 @@ mask. human_phenotype Absent pancreas - - http://orcid.org/0000-0001-5208-3432 - Absent pancreas - - - - Aplasia of the pancreas. HPO:sdoelken + + ORCID:0000-0001-5208-3432 + Absent pancreas + + + + @@ -454859,6 +457089,13 @@ mask. Abnormal stomach location Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. + + ORCID:0000-0001-5208-3432 + Abnormal stomach location + + + + pmid:16465538 HPO:probinson @@ -454866,13 +457103,6 @@ mask. - - http://orcid.org/0000-0001-5208-3432 - Abnormal stomach location - - - - @@ -454994,18 +457224,18 @@ mask. doelkens human_phenotype - - Long fingers - - - - The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. pmid:19125433 + + Long fingers + + + + @@ -455026,9 +457256,9 @@ mask. An outpouching of the gastric wall. - HPO:probinson An outpouching of the gastric wall. pmid:22257431 + HPO:probinson @@ -455055,6 +457285,12 @@ mask. Scalp pain Allodynia of scalp + + Scalp tenderness + MEDDRA:10039521 + + + HPO:probinson Pain or discomfort of the scalp elicited by palpation. @@ -455062,14 +457298,15 @@ mask. - Scalp tenderness - MEDDRA:10039521 + ORCID:0000-0001-5889-4463 + Scalp pain - + + Allodynia of scalp - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -455079,13 +457316,6 @@ mask. - - Scalp pain - orcid.org/0000-0001-5889-4463 - - - - @@ -455104,15 +457334,15 @@ mask. Pointed ear + ORCID:0000-0001-5208-3432 Spock's ear - http://orcid.org/0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 Pointed ear + ORCID:0000-0001-5208-3432 @@ -455155,21 +457385,21 @@ mask. Absent/underdeveloped colon Absent/small colon - - Congenital absence or underdevelopment of the colon. - HPO:probinson - - - Absent/underdeveloped colon - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 - http://orcid.org/0000-0001-5208-3432 + Congenital absence or underdevelopment of the colon. + HPO:probinson + + + + + ORCID:0000-0001-5208-3432 Absent/small colon @@ -455202,18 +457432,18 @@ mask. - - Breath odour - MEDDRA:10006326 - - - Bad breath + + Breath odour + MEDDRA:10006326 + + + @@ -455314,21 +457544,21 @@ mask. Increased pigmentation on the lips - Darkening of skin of the lips - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hyperpigmentation of lip vermillion - - Hyperpigmentation of lip vermillion - orcid.org/0000-0001-5889-4463 + Increased pigmentation on the lips + ORCID:0000-0001-5889-4463 + - Increased pigmentation on the lips - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Darkening of skin of the lips @@ -455385,8 +457615,8 @@ mask. + ORCID:0000-0001-5208-3432 Long rib cage - orcid.org/0000-0001-5208-3432 @@ -455440,18 +457670,18 @@ mask. human_phenotype - - An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. - HPO:probinson - - - Intestinal fistula MEDDRA:10022647 + + An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. + HPO:probinson + + + @@ -455560,13 +457790,6 @@ mask. Red and sore lips - - orcid.org/0000-0001-5889-4463 - Inflammation of the lips - - - - HPO:sdoelken Inflammation of the lip. @@ -455574,8 +457797,15 @@ mask. + ORCID:0000-0001-5889-4463 + Inflammation of the lips + + + + + + ORCID:0000-0001-5889-4463 Red and sore lips - orcid.org/0000-0001-5889-4463 @@ -455628,8 +457858,8 @@ mask. Nail tumor - orcid.org/0000-0001-5208-3432 Nail tumor + ORCID:0000-0001-5208-3432 @@ -455698,7 +457928,7 @@ mask. High lymphocyte count - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -455766,7 +457996,7 @@ mask. Spontaneous milk flow from breast - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -455828,18 +458058,18 @@ mask. doelkens human_phenotype - - Abnormality of vitamin K metabolism - - - - HPO:probinson Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. + + Abnormality of vitamin K metabolism + + + + @@ -455872,8 +458102,7 @@ mask. Eye floaters - orcid.org/0000-0001-5208-3432 - Eye floaters + Spots in front of eyes @@ -455885,7 +458114,8 @@ mask. - Spots in front of eyes + ORCID:0000-0001-5208-3432 + Eye floaters @@ -455939,8 +458169,8 @@ mask. Small intestine tumor - orcid.org/0000-0001-5208-3432 Small intestine tumor + ORCID:0000-0001-5208-3432 @@ -456000,19 +458230,19 @@ mask. human_phenotype Large intestine tumor - - Large intestine tumor - orcid.org/0000-0001-5208-3432 - - - - HPO:probinson The presence of a neoplasm of the large intestine. + + Large intestine tumor + ORCID:0000-0001-5208-3432 + + + + @@ -456045,8 +458275,8 @@ mask. A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. - A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. HPO:probinson + A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. @@ -456107,7 +458337,7 @@ mask. Hepatic agenesis - + 2011-06-09T06:37:25Z HP:0100839 Liver agenesis @@ -456119,15 +458349,15 @@ mask. Failed liver development + ORCID:0000-0001-5208-3432 Failed liver development - orcid.org/0000-0001-5208-3432 - HPO:probinson Absence of the liver owing to a failure of the liver to develop. + HPO:probinson @@ -456178,61 +458408,61 @@ mask. Agenesis of eyebrow - orcid.org/0000-0001-5889-4463 - Missing eyebrow + HPO:skoehler + Sparse to absent eyebrows - + - orcid.org/0000-0001-5889-4463 - Hypotrophic eyebrow + Lack of eyebrow + ORCID:0000-0001-5889-4463 + - HPO:skoehler - Sparse/absent eyebrows + ORCID:0000-0001-5889-4463 + Absence of eyebrow - + - orcid.org/0000-0001-5889-4463 - Absence of eyebrow + ORCID:0000-0001-5889-4463 + Hypotrophic eyebrow - - HPO:skoehler - Sparse or absent eyebrows + ORCID:0000-0001-5889-4463 + Agenesis of eyebrow - - + - Absence or underdevelopment of the eyebrow. - HPO:probinson + HPO:skoehler + Sparse/absent eyebrows - + + - orcid.org/0000-0001-5889-4463 - Lack of eyebrow + Missing eyebrow + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Agenesis of eyebrow + Absence or underdevelopment of the eyebrow. + HPO:probinson - + HPO:skoehler - Sparse to absent eyebrows + Sparse or absent eyebrows @@ -456369,8 +458599,8 @@ mask. A chronic, relapsing, pustular eruption that is localized to the palms and soles. - pmid:23209116 HPO:probinson + pmid:23209116 @@ -456483,8 +458713,8 @@ mask. Neoplasia of the scrotum + ORCID:0000-0001-5208-3432 Scrotum tumor - orcid.org/0000-0001-5208-3432 @@ -456546,8 +458776,8 @@ mask. Neoplasia of the penis + ORCID:0000-0001-5208-3432 Penis tumor - orcid.org/0000-0001-5208-3432 @@ -456723,18 +458953,18 @@ mask. Absent musculature - Absence of the musculature. - HPO:sdoelken - - - - - orcid.org/0000-0001-5208-3432 Absent musculature + ORCID:0000-0001-5208-3432 + + Absence of the musculature. + HPO:sdoelken + + + @@ -456774,8 +459004,8 @@ mask. Small triceps - orcid.org/0000-0001-5208-3432 - Small triceps + Underdeveloped triceps + ORCID:0000-0001-5208-3432 @@ -456787,8 +459017,8 @@ mask. - orcid.org/0000-0001-5208-3432 - Underdeveloped triceps + ORCID:0000-0001-5208-3432 + Small triceps @@ -457106,7 +459336,7 @@ mask. Absent femoral head - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -457146,8 +459376,8 @@ mask. Absent neck of thighbone + ORCID:0000-0001-5208-3432 Absent neck of thighbone - orcid.org/0000-0001-5208-3432 @@ -457197,8 +459427,8 @@ mask. - orcid.org/0000-0001-5208-3432 Short neck of thighbone + ORCID:0000-0001-5208-3432 @@ -457288,7 +459518,7 @@ mask. Short pelvis bones - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -457337,18 +459567,18 @@ mask. human_phenotype - - HPO:sdoelken - The narrowing or partial blockage of a portion of the duodenum. - - - Duodenal stenosis MEDDRA:10050094 + + HPO:sdoelken + The narrowing or partial blockage of a portion of the duodenum. + + + @@ -457571,10 +459801,11 @@ mask. - HPO:probinson - Increased density of hairs, i.e., and elevated number of hairs per unit area. + ORCID:0000-0001-5889-4463 + Increased hair density - + + Thick hair @@ -457583,17 +459814,16 @@ mask. - Increased hair density - orcid.org/0000-0001-5889-4463 + Increased follicular density + ORCID:0000-0001-5889-4463 - - Increased follicular density - orcid.org/0000-0001-5889-4463 + HPO:probinson + Increased density of hairs, i.e., and elevated number of hairs per unit area. - + @@ -457618,10 +459848,10 @@ mask. Hemiglossal hyperplasia - Hyperplasia of half of the tongue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypertrophy of half of the tongue - + HPO:sdoelken @@ -457630,36 +459860,36 @@ mask. - Hypertrophy of half of the tongue - orcid.org/0000-0001-5889-4463 + Hemiglossal hyperplasia + ORCID:0000-0001-5889-4463 - + - Hemiglossal hyperplasia - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hemiglossal hypertrophy - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Large half of tongue - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased size of half of the tongue - Hemiglossal hypertrophy - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hyperplasia of half of the tongue - + @@ -457684,13 +459914,6 @@ mask. Infraorbital crease - - Groove in skin under the eye - orcid.org/0000-0001-5889-4463 - - - - Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. pmid:19125427 @@ -457698,8 +459921,15 @@ mask. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Groove in skin under the eye + + + + + Crease in skin under the eye + ORCID:0000-0001-5889-4463 @@ -457996,30 +460226,30 @@ mask. Abnormality of eyeball position - An abnormality in the placement of the ocular globe (eyeball). - HPO:sdoelken + Abnormality of globe position + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Abnormality of eyeball location + Abnormality of eyeball position + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of globe position + Abnormality of eyeball location + ORCID:0000-0001-5889-4463 + - orcid.org/0000-0001-5889-4463 - Abnormality of eyeball position + An abnormality in the placement of the ocular globe (eyeball). + HPO:sdoelken - - + @@ -458060,12 +460290,6 @@ mask. Abnormality of eyeball size Eye size difference - - An abnormality in the size of the ocular globe (eyeball). - HPO:sdoelken - - - Eye size difference @@ -458073,8 +460297,14 @@ mask. - orcid.org/0000-0001-5889-4463 + An abnormality in the size of the ocular globe (eyeball). + HPO:sdoelken + + + + Abnormality of eyeball size + ORCID:0000-0001-5889-4463 @@ -458421,19 +460651,19 @@ mask. human_phenotype Increased bone density in the finger bone - - Increased bone density in the finger bone - orcid.org/0000-0001-5208-3432 - - - - An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. HPO:probinson + + ORCID:0000-0001-5208-3432 + Increased bone density in the finger bone + + + + @@ -458479,8 +460709,8 @@ mask. Increased bone density in the outermost bone of the index finger - orcid.org/0000-0001-5208-3432 Increased bone density in the outermost bone of the index finger + ORCID:0000-0001-5208-3432 @@ -458530,7 +460760,7 @@ mask. Increased bone density in the outermost bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in the outermost bone of the middle finger @@ -458581,7 +460811,7 @@ mask. Increased bone density in the outermost bone of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in the outermost bone of the ring finger @@ -458634,22 +460864,22 @@ mask. Increased bone density in the outermost pinkie finger bone - Increased bone density in the outermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Increased bone density in the outermost little finger bone - orcid.org/0000-0001-5208-3432 - Increased bone density in the outermost little finger bone + ORCID:0000-0001-5208-3432 + Increased bone density in the outermost pinky finger bone - orcid.org/0000-0001-5208-3432 - Increased bone density in the outermost pinky finger bone + ORCID:0000-0001-5208-3432 + Increased bone density in the outermost pinkie finger bone @@ -458699,7 +460929,7 @@ mask. Increased bone density in the middle bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in the middle bone of the index finger @@ -458750,8 +460980,8 @@ mask. Increased bone density in the middle bone of the middle finger + ORCID:0000-0001-5208-3432 Increased bone density in the middle bone of the middle finger - orcid.org/0000-0001-5208-3432 @@ -458801,7 +461031,7 @@ mask. Increased bone density in the middle bone of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in the middle bone of the ring finger @@ -458854,22 +461084,22 @@ mask. Increased bone density in the middle bone of the little finger - Increased bone density in the middle bone of the little finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Increased bone density in the middle bone of the pinkie finger - Increased bone density in the middle bone of the pinkie finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + Increased bone density in the middle bone of the pinky finger - orcid.org/0000-0001-5208-3432 - Increased bone density in the middle bone of the pinky finger + ORCID:0000-0001-5208-3432 + Increased bone density in the middle bone of the little finger @@ -458920,7 +461150,7 @@ mask. Increased bone density in the innermost bone of the index finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -458970,7 +461200,7 @@ mask. Increased bone density in innermost bone of the middle finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in innermost bone of the middle finger @@ -459022,7 +461252,7 @@ mask. Increased bone density in the innermost bone of the ring finger - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -459074,22 +461304,22 @@ mask. Increased bone density in innermost pinkie finger bone - orcid.org/0000-0001-5208-3432 - Increased bone density in innermost little finger bone + ORCID:0000-0001-5208-3432 + Increased bone density in innermost pinkie finger bone - Increased bone density in innermost pinkie finger bone - orcid.org/0000-0001-5208-3432 + Increased bone density in innermost pinky finger bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Increased bone density in innermost pinky finger bone + ORCID:0000-0001-5208-3432 + Increased bone density in innermost little finger bone @@ -459148,7 +461378,7 @@ mask. Increased bone density in the outermost bone of the thumb - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -459205,8 +461435,8 @@ mask. - orcid.org/0000-0001-5208-3432 Increased bone density in the innermost bone of the thumb + ORCID:0000-0001-5208-3432 @@ -459256,7 +461486,7 @@ mask. Increased bone density in 1st long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -459315,7 +461545,7 @@ mask. Increased bone density in outermost finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -459373,8 +461603,8 @@ mask. + ORCID:0000-0001-5208-3432 Increased bone density in middle finger bone of hand - orcid.org/0000-0001-5208-3432 @@ -459425,19 +461655,19 @@ mask. human_phenotype Increased bone density in innermost finger bone - - orcid.org/0000-0001-5208-3432 - Increased bone density in innermost finger bone - - - - An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. HPO:probinson + + ORCID:0000-0001-5208-3432 + Increased bone density in innermost finger bone + + + + @@ -459485,18 +461715,18 @@ mask. Increased bone density in 2nd finger bone - An elevation in bone density in one or more distal phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 Increased bone density in 2nd finger bone + ORCID:0000-0001-5208-3432 + + An elevation in bone density in one or more distal phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. + HPO:probinson + + + @@ -459544,8 +461774,8 @@ mask. Increased bone density in middle finger bone - orcid.org/0000-0001-5208-3432 Increased bone density in middle finger bone + ORCID:0000-0001-5208-3432 @@ -459603,18 +461833,18 @@ mask. Increased bone density in ring finger bone - An elevation in bone density in one or more distal phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. - HPO:probinson - - - - - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in ring finger bone + + An elevation in bone density in one or more distal phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. + HPO:probinson + + + @@ -459664,22 +461894,15 @@ mask. Increased bone density in pinkie finger bone - Increased bone density in pinkie finger bone - orcid.org/0000-0001-5208-3432 + Increased bone density in pinky finger bone + ORCID:0000-0001-5208-3432 Increased bone density in little finger bone - orcid.org/0000-0001-5208-3432 - - - - - - Increased bone density in pinky finger bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -459690,6 +461913,13 @@ mask. + + ORCID:0000-0001-5208-3432 + Increased bone density in pinkie finger bone + + + + @@ -459736,7 +461966,7 @@ mask. Increased bone density in thumb bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in thumb bone @@ -459793,23 +462023,23 @@ mask. Increased bone density in collarbone - HPO:skoehler - Osteosclerosis of the clavicles + An increase in bone density within the clavicle. + HPO:probinson - + + ORCID:0000-0001-5208-3432 Increased bone density in collarbone - orcid.org/0000-0001-5208-3432 - An increase in bone density within the clavicle. - HPO:probinson + HPO:skoehler + Osteosclerosis of the clavicles - + @@ -459859,19 +462089,19 @@ mask. human_phenotype Increased bone density in the toe bone - - Increased bone density in the toe bone - orcid.org/0000-0001-5208-3432 - - - - An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. HPO:probinson + + ORCID:0000-0001-5208-3432 + Increased bone density in the toe bone + + + + @@ -459919,19 +462149,19 @@ mask. human_phenotype Increased bone density in foot bone - - orcid.org/0000-0001-5208-3432 - Increased bone density in foot bone - - - - An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. HPO:probinson + + ORCID:0000-0001-5208-3432 + Increased bone density in foot bone + + + + @@ -459977,19 +462207,19 @@ mask. human_phenotype Increased bone density in 2nd toe bone - - Increased bone density in 2nd toe bone - orcid.org/0000-0001-5208-3432 - - - - An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. HPO:probinson + + ORCID:0000-0001-5208-3432 + Increased bone density in 2nd toe bone + + + + @@ -460035,19 +462265,19 @@ mask. human_phenotype Increased bone density in 3rd toe bone - - orcid.org/0000-0001-5208-3432 - Increased bone density in 3rd toe bone - - - - An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. HPO:probinson + + ORCID:0000-0001-5208-3432 + Increased bone density in 3rd toe bone + + + + @@ -460100,8 +462330,8 @@ mask. - orcid.org/0000-0001-5208-3432 Increased bone density in 4th toe bone + ORCID:0000-0001-5208-3432 @@ -460154,31 +462384,31 @@ mask. Increased bone density in little toe bone - Increased bone density in little toe bone - orcid.org/0000-0001-5208-3432 + Increased bone density in pinkie toe bone + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Increased bone density in pinkie toe bone + Increased bone density in pinky toe bone + ORCID:0000-0001-5208-3432 - An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. - HPO:probinson + Increased bone density in little toe bone + ORCID:0000-0001-5208-3432 - + + - Increased bone density in pinky toe bone - orcid.org/0000-0001-5208-3432 + An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. + HPO:probinson - - + @@ -460226,7 +462456,7 @@ mask. Increased bone density in big toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in big toe bone @@ -460290,7 +462520,7 @@ mask. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in the innermost bone of the 2nd toe @@ -460342,8 +462572,8 @@ mask. Increased bone density in the innermost bone of the 3rd toe + ORCID:0000-0001-5208-3432 Increased bone density in the innermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 @@ -460399,8 +462629,8 @@ mask. Increased bone density in the innermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 Increased bone density in the innermost bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -460452,22 +462682,22 @@ mask. Increased bone density in the innermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Increased bone density in the innermost bone of the pinkie toe + Increased bone density in the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Increased bone density in the innermost bone of the little toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Increased bone density in the innermost bone of the pinky toe + ORCID:0000-0001-5208-3432 + Increased bone density in the innermost bone of the pinkie toe @@ -460518,7 +462748,7 @@ mask. Increased bone density in the middle bone of the 2nd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -460568,19 +462798,19 @@ mask. human_phenotype Increased bone density in the middle bone of the 3rd toe - - orcid.org/0000-0001-5208-3432 - Increased bone density in the middle bone of the 3rd toe - - - - An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. HPO:probinson + + Increased bone density in the middle bone of the 3rd toe + ORCID:0000-0001-5208-3432 + + + + @@ -460626,8 +462856,8 @@ mask. Increased bone density in the middle bone of the 4th toe - orcid.org/0000-0001-5208-3432 Increased bone density in the middle bone of the 4th toe + ORCID:0000-0001-5208-3432 @@ -460679,22 +462909,22 @@ mask. Increased bone density in the middle bone of the little toe - Increased bone density in the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 + Increased bone density in the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 - Increased bone density in the middle bone of the little toe + ORCID:0000-0001-5208-3432 + Increased bone density in the middle bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - Increased bone density in the middle bone of the pinky toe + ORCID:0000-0001-5208-3432 + Increased bone density in the middle bone of the little toe @@ -460745,8 +462975,8 @@ mask. Increased bone density in the outermost bone of the 2nd toe + ORCID:0000-0001-5208-3432 Increased bone density in the outermost bone of the 2nd toe - orcid.org/0000-0001-5208-3432 @@ -460798,7 +463028,7 @@ mask. Increased bone density in the outermost bone of the 3rd toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -460855,7 +463085,7 @@ mask. Increased bone density in the outermost bone of the 4th toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -460908,21 +463138,21 @@ mask. Increased bone density in the outermost bone of the little toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Increased bone density in the outermost bone of the pinkie toe - orcid.org/0000-0001-5208-3432 - orcid.org/0000-0001-5208-3432 Increased bone density in the outermost bone of the pinky toe + ORCID:0000-0001-5208-3432 @@ -460973,7 +463203,7 @@ mask. Increased bone density in the innermost bone of the big toe - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -461024,8 +463254,8 @@ mask. Increased bone density in the outermost bone of the big toe + ORCID:0000-0001-5208-3432 Increased bone density in the outermost bone of the big toe - orcid.org/0000-0001-5208-3432 @@ -461075,7 +463305,7 @@ mask. Increased bone density in the 1st long bone of foot - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -461133,8 +463363,8 @@ mask. + ORCID:0000-0001-5208-3432 Increased bone density in innermost toe bone - orcid.org/0000-0001-5208-3432 @@ -461193,7 +463423,7 @@ mask. Increased bone density in middle toe bone - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -461246,7 +463476,7 @@ mask. Increased bone density in the outermost bone of the toes - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -461667,7 +463897,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Splayed end part of bone @@ -461712,23 +463942,23 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - orcid.org/0000-0001-5889-4463 Abnormal shape of the opening between the eyelids + ORCID:0000-0001-5889-4463 - HPO:probinson - The presence of an abnormal shape of the palpebral fissure. + ORCID:0000-0001-5889-4463 + Abnormal morphology of the palpebral fissure - + - orcid.org/0000-0001-5889-4463 - Abnormal morphology of the palpebral fissure + HPO:probinson + The presence of an abnormal shape of the palpebral fissure. - + @@ -461746,7 +463976,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Slanting of the opening between the eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Slanting of the opening between the eyelids @@ -461790,22 +464020,22 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal size of the opening between the eyelids Abnormal size of the eyes - - Abnormal size of the eyes - orcid.org/0000-0001-5889-4463 - - - - An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. HPO:sdoelken + + Abnormal size of the eyes + ORCID:0000-0001-5889-4463 + + + + Abnormal size of the opening between the eyelids - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -461964,7 +464194,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Tumor of fatty tissue - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 @@ -462080,8 +464310,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + ORCID:0000-0001-6908-9849 Red-weak - orcid.org/0000-0001-6908-9849 @@ -462152,13 +464382,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Rounded, sloping shoulders + Sloping shoulders - Down-sloping shoulders + Rounded, sloping shoulders @@ -462176,7 +464406,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Sloping shoulders + Down-sloping shoulders @@ -462340,7 +464570,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Lower jaw pain - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Lower jaw pain @@ -462366,8 +464596,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. - orcid.org/0000-0001-5889-4463 Eye pain + ORCID:0000-0001-5889-4463 @@ -462391,18 +464621,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h sebastiankohler Graves dermopathy - - Graves dermopathy - orcid.org/0000-0001-6908-9849 - - - A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. HPO:skoehler + + Graves dermopathy + ORCID:0000-0001-6908-9849 + + + @@ -462421,8 +464651,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Cutaneous vasculitis - HPO:skoehler Cutaneous vasculitis + HPO:skoehler @@ -462460,28 +464690,28 @@ If the skeletal ages of individuals bones are different, i.e., different bones h sebastiankohler - Fleischer's ring + Fleischer-Struempell ring HPO:SKOEHLER - Fleischer-Struempell ring + Fleischer's ring HPO:SKOEHLER - Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. + Fleischer-Kayser ring HPO:SKOEHLER - + - Fleischer-Kayser ring + Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. HPO:SKOEHLER - + @@ -462505,16 +464735,16 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. - HPO:skoehler + Papules + HPO:skoehler - + - HPO:skoehler - Papules + A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. + HPO:skoehler - + Papule @@ -462585,18 +464815,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Blister - A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. - HPO:SKOEHLER - - - - + ORCID:0000-0001-6908-9849 Blister - orcid.org/0000-0001-6908-9849 + + A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. + HPO:SKOEHLER + + + @@ -462631,14 +464861,14 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - http://orcid.org/0000-0001-6908-9849 Pimple + ORCID:0000-0001-6908-9849 - Pustules + Skin pustules HPO:skoehler @@ -462650,7 +464880,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Skin pustules + Pustules HPO:skoehler @@ -462717,11 +464947,10 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Epidermal cyst - Epidermoid cysts - HPO:skoehler - + Skin cyst - + + HPO:skoehler @@ -462730,10 +464959,11 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Skin cyst + Epidermoid cysts + HPO:skoehler + - - + @@ -462871,12 +465101,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h human_phenotype sebastiankohler - - Cat cry - - - - HPO:skoehler cri de chat-associated cry @@ -462890,6 +465114,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + Cat cry + + + + HPO:probinson The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. @@ -462983,7 +465213,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Bracket shaped end part of long bone of hand - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 @@ -463089,11 +465319,10 @@ If the skeletal ages of individuals bones are different, i.e., different bones h sebastiankohler - HPO:skoehler - Small hands + Disproportionately small hand. + HPO:probinson - - + Small hand @@ -463102,16 +465331,17 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Disproportionately small hand. - HPO:probinson + Disproportionately small hands - + + - Disproportionately small hands + HPO:skoehler + Small hands - + @@ -463133,8 +465363,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h HP:0007949 - HPO:probinson Scar tissue in the macula. + HPO:probinson @@ -463159,13 +465389,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h HPO:skoehler - relative afferent pupillary defect + relative afferent pupil defect HPO:skoehler - relative afferent pupil defect + relative afferent pupillary defect @@ -463262,7 +465492,14 @@ If the skeletal ages of individuals bones are different, i.e., different bones h UMLS:C0423318 human_phenotype sebastiankohler + Asymmetry between the two irides or asymmetry between different parts of one iris. + + ORCID:0000-0003-0986-4123 + Asymmetry between the two irides or asymmetry between different parts of one iris. + + + @@ -463297,8 +465534,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h UMLS:C0521683 human_phenotype sebastiankohler - HP:0007945 HP:0007912 + HP:0007945 @@ -463380,8 +465617,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Wasting of the outer part of the retina + ORCID:0000-0001-5208-3432 Wasting of the outer part of the retina - orcid.org/0000-0001-5208-3432 @@ -463488,17 +465725,11 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. - Giant cell hepatitis on biopsy + Giant cell hepatitis on liver biopsy HPO:skoehler - - Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. - PMID:27746622 - - - Giant cell hepatitis shown on biopsy HPO:skoehler @@ -463506,11 +465737,17 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Giant cell hepatitis on liver biopsy + Giant cell hepatitis on biopsy HPO:skoehler + + Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. + PMID:27746622 + + + @@ -463543,8 +465780,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + ORCID:0000-0001-6908-9849 Involuntary shaking of limb - http://orcid.org/0000-0001-6908-9849 @@ -463629,17 +465866,17 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Blisters of mouth - orcid.org/0000-0001-5889-4463 - Blisters of mouth + ORCID:0000-0001-5889-4463 + Bullae of oral mucosa - - HPO:probinson - Blisters arising in the mouth. + Blisters of mouth + ORCID:0000-0001-5889-4463 - + + Oral mucosal blisters @@ -463648,22 +465885,22 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Blebs of oral mucosa - orcid.org/0000-0001-5889-4463 + HPO:skoehler + Oral mucosa blisters - + - Bullae of oral mucosa - orcid.org/0000-0001-5889-4463 + HPO:probinson + Blisters arising in the mouth. - + - HPO:skoehler - Oral mucosa blisters + Blebs of oral mucosa + ORCID:0000-0001-5889-4463 - + @@ -463713,14 +465950,14 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Lack of skin coloration - Absent skin pigmentation + Lack of skin coloration + ORCID:0000-0001-5208-3432 - Lack of skin coloration - orcid.org/0000-0001-5208-3432 + Absent skin pigmentation @@ -463812,17 +466049,17 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Sparse or absent eyelashes + HPO:skoehler + Partial to total absence of eyelashes - + - HPO:skoehler - Partial to total absence of eyelashes + Sparse or absent eyelashes - + @@ -463923,8 +466160,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + ORCID:0000-0001-6908-9849 Missing fifth toenail - orcid.org/0000-0001-6908-9849 @@ -464122,15 +466359,15 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver. - orcid.org/0000-0001-6908-9849 + ORCID:0000-0001-6908-9849 Acute liver inflammation - https://www.healthline.com/health/acute-hepatitis-c#acute-vs-chronic Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver. + https://www.healthline.com/health/acute-hepatitis-c#acute-vs-chronic @@ -464153,8 +466390,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. - Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. PMID:7418593 + Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. @@ -464180,8 +466417,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Atypical or prolonged liver inflammation + ORCID:0000-0001-6908-9849 Atypical or prolonged liver inflammation - orcid.org/0000-0001-6908-9849 @@ -464204,19 +466441,19 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Hepatitis that lasts for more than six months. Chronic liver inflammation - - Hepatitis that lasts for more than six months. - https://patient.info/doctor/chronic-hepatitis - - - Chronic liver inflammation - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 + + Hepatitis that lasts for more than six months. + https://patient.info/doctor/chronic-hepatitis + + + @@ -464259,10 +466496,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h obsolete Amyloid cardiomyopathy - 2013-06-11T11:25:53Z HP:0200126 - sebastiankohler true + HP:0030843 @@ -464301,8 +466537,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Thickening of the heart walls in both ventricles. - PMID:28740584 Thickening of the heart walls in both ventricles. + PMID:28740584 @@ -464315,6 +466551,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h obsolete Calcific mitral stenosis HP:0200129 true + HP:0001718 @@ -464351,9 +466588,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h obsolete Macrocephaly due to hydrocephalus - 2013-06-12T10:58:49Z HP:0200135 - sebastiankohler true @@ -464377,21 +466612,21 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Oral pharyngeal dysphagia - Oral pharyngeal dysphagia - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + Difficulty swallowing + - orcid.org/0000-0001-5889-4463 - Difficulty swallowing + ORCID:0000-0001-5889-4463 + Oropharyngeal dysphagia - - Oropharyngeal dysphagia - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 + Oral pharyngeal dysphagia @@ -464431,33 +466666,33 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Small, pointed teeth Conical microdontia - - Conical microdontia - orcid.org/0000-0001-5889-4463 - - - Small, cone shaped teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Small, pointed teeth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Small, peg shaped teeth - orcid.org/0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + Conical microdontia + + + @@ -464487,10 +466722,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h obsolete Anaphylactoid purpura - 2013-06-13T12:53:00Z HP:0200144 - sebastiankohler true + HP:0000979 @@ -464658,9 +466892,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Multifocal dense infiltrates of mast cells in cutaneous tissue. + PMID:21668033 Multifocal dense infiltrates of mast cells in cutaneous tissue. - HPO:probinson - PMID:21668033 + HPO:probinson @@ -464699,23 +466933,23 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Absence of lateral incisor - orcid.org/0000-0001-5889-4463 - Missing lateral incisor + ORCID:0000-0001-5889-4463 + Failure of development of lateral incisor - - + + ORCID:0000-0001-5889-4463 Absence of lateral incisor - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of lateral incisor + Missing lateral incisor + ORCID:0000-0001-5889-4463 - + + @@ -464755,37 +466989,37 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Failure of development of mandibular lateral incisor - orcid.org/0000-0001-5889-4463 - Absence of mandibular lateral incisor - - - - - orcid.org/0000-0001-5889-4463 Missing lower lateral incisor + ORCID:0000-0001-5889-4463 Missing mandibular lateral incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of lower lateral incisor + ORCID:0000-0001-5889-4463 + Absence of mandibular lateral incisor - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Failure of development of mandibular lateral incisor + + Absence of lower lateral incisor + ORCID:0000-0001-5889-4463 + + + + @@ -464823,32 +467057,32 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Missing permanent mandibular lateral incisor - orcid.org/0000-0001-5889-4463 - Missing permanent mandibular lateral incisor + Failure of development of permanent mandibular lateral incisor + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Absence of adult mandibular lateral incisor + ORCID:0000-0001-5889-4463 + Missing permanent mandibular lateral incisor - orcid.org/0000-0001-5889-4463 - Missing adult lower lateral incisor + Absence of permanent mandibular lateral incisor + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of permanent mandibular lateral incisor + ORCID:0000-0001-5889-4463 + Absence of adult mandibular lateral incisor - + - Absence of permanent mandibular lateral incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing adult lower lateral incisor @@ -464893,52 +467127,52 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Failure of development of deciduous mandibular lateral incisor - orcid.org/0000-0001-5889-4463 - Failure of development of primary mandibular lateral incisor + Failure of development of deciduous mandibular lateral incisor + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Failure of development of deciduous mandibular lateral incisor + Absence of primary mandibular lateral incisor + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 Missing deciduous mandibular lateral incisor + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of deciduous mandibular lateral incisor + ORCID:0000-0001-5889-4463 + Absence of lower front baby tooth + - orcid.org/0000-0001-5889-4463 - Agenesis of deciduous mandibular lateral incisor + ORCID:0000-0001-5889-4463 + Missing primary mandibular lateral incisor - + - orcid.org/0000-0001-5889-4463 - Missing primary mandibular lateral incisor + Agenesis of deciduous mandibular lateral incisor + ORCID:0000-0001-5889-4463 - + - Absence of primary mandibular lateral incisor - orcid.org/0000-0001-5889-4463 + Failure of development of primary mandibular lateral incisor + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Absence of lower front baby tooth + Absence of deciduous mandibular lateral incisor + ORCID:0000-0001-5889-4463 - @@ -464979,41 +467213,41 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Missing upper front tooth Failure of development of upper incisor - - orcid.org/0000-0001-5889-4463 - Absence of upper front tooth - - - - Failure of development of upper incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Absence of maxillary incisor + Missing upper front tooth + ORCID:0000-0001-5889-4463 + Missing upper incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Missing upper front tooth - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of maxillary incisor - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of upper front tooth + + + + + + ORCID:0000-0001-5889-4463 Failure of development of maxillary incisor @@ -465058,47 +467292,47 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Absence of mandibular incisor - Agenesis of lower incisor - orcid.org/0000-0001-5889-4463 + Absence of mandibular incisor + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Missing lower front tooth - orcid.org/0000-0001-5889-4463 - Absence of lower front tooth + ORCID:0000-0001-5889-4463 + Agenesis of lower incisor - - + - Missing lower incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Absence of lower incisor - Failure of development of mandibular incisor - orcid.org/0000-0001-5889-4463 + Absence of lower front tooth + ORCID:0000-0001-5889-4463 - + + - Absence of mandibular incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Failure of development of mandibular incisor - + - Absence of lower incisor - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Missing lower incisor @@ -465144,56 +467378,56 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Increased height of menton region - orcid.org/0000-0001-5889-4463 - Long chin + Tall chin - Vertical excess of chin - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Long lower third of face - + + - Tall chin + Increased height of chin + ORCID:0000-0001-5889-4463 - Vertical hyperplasia of chin - orcid.org/0000-0001-5889-4463 + pmid:19125436 + Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. + eom:96d8ca16a3c80216 - + - orcid.org/0000-0001-5889-4463 - Increased height of menton region + Vertical excess of chin + ORCID:0000-0001-5889-4463 - Increased height of chin - orcid.org/0000-0001-5889-4463 + Long chin + ORCID:0000-0001-5889-4463 - eom:96d8ca16a3c80216 - Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. - pmid:19125436 + Vertical hyperplasia of chin + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Long lower third of face + Increased height of menton region + ORCID:0000-0001-5889-4463 - - + @@ -465216,53 +467450,53 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Cleft chin - Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. - eom:8a5493c72e0dd13c - pmid:19125436 + Chin with vertical sulcus + ORCID:0000-0001-5889-4463 - + - Cleft chin + Vertical chin skin cleft + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Vertical chin skin cleft + Chin with vertical crease + - orcid.org/0000-0001-5889-4463 - Chin with vertical furrow + Vertical menton crease + ORCID:0000-0001-5889-4463 Chin with vertical groove - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Vertical menton crease + ORCID:0000-0001-5889-4463 + Chin with vertical furrow - orcid.org/0000-0001-5889-4463 - Chin with vertical sulcus + Cleft chin + - Chin with vertical crease + Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. + pmid:19125436 + eom:8a5493c72e0dd13c - - + @@ -465297,9 +467531,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Concha, Extra Fold - eom:40563f1f62db2319 - pmid:19152421 Folds or ridges within the concha that are distinct from the crus helix. + pmid:19152421 + eom:40563f1f62db2319 @@ -465356,11 +467590,11 @@ If the skeletal ages of individuals bones are different, i.e., different bones h The commonly used term Macrotia is a bundled term comprising increased length and width (surface area). - Long ears - HPO:skoehler + Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. + pmid:19152421 + eom:2028381d5c61842a - - + Long ear @@ -465369,11 +467603,11 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. - pmid:19152421 - eom:2028381d5c61842a + Long ears + HPO:skoehler - + + @@ -465409,17 +467643,10 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. The commonly used term Microtia is a bundled term comprising decreased length and width (surface area). - - Short ears - HPO:skoehler - - - - Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. - pmid:19152421 eom:2cff5ac9b681fc73 + pmid:19152421 @@ -465429,6 +467656,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + Short ears + HPO:skoehler + + + + @@ -465462,8 +467696,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Prolonged/excessive menses and bleeding at irregular intervals. - pmid:22594864 Prolonged/excessive menses and bleeding at irregular intervals. + pmid:22594864 @@ -465501,16 +467735,16 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of vomer bone - orcid.org/0000-0001-5889-4463 - Abnormality of vomer bone + An abnormality of the vomer. + GOC:NV - + - GOC:NV - An abnormality of the vomer. + Abnormality of vomer bone + ORCID:0000-0001-5889-4463 - + @@ -465548,22 +467782,22 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Cleft alveolar process of maxilla - Cleft alveolar process of maxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Cleft anterior maxilla - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Cleft maxillary alveolus - orcid.org/0000-0001-5889-4463 - Cleft anterior maxilla + ORCID:0000-0001-5889-4463 + Cleft alveolar process of maxilla - + @@ -465598,8 +467832,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Cleft roof of mouth - orcid.org/0000-0001-5889-4463 Cleft roof of mouth + ORCID:0000-0001-5889-4463 @@ -465638,15 +467872,15 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Cleft of hard palate - http://orcid.org/0000-0001-5889-4463 - http://orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5889-4463 + ORCID:0000-0001-5208-3432 Cleft of hard palate + ORCID:0000-0001-5889-4463 Cleft bony palate - orcid.org/0000-0001-5889-4463 @@ -465684,13 +467918,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of the first branch of the internal carotid artery. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of the first branch of the internal carotid artery. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Ophthalmic artery anomaly @@ -465727,7 +467961,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Any abnormality of cartilage. - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Any abnormality of cartilage. @@ -465765,16 +467999,16 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. - Abnormality of the peripheral nervous system + ORCID:0000-0001-5889-4463 + Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. - - + - orcid.org/0000-0001-5889-4463 - Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. + Abnormality of the peripheral nervous system - + + @@ -465809,7 +468043,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. @@ -465846,7 +468080,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Any abnormality of the somatic nerve plexus. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Any abnormality of the somatic nerve plexus. @@ -465884,7 +468118,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of muscles of mastication - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Any abnormality of the masticatory muscle. @@ -465923,19 +468157,19 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Any abnormality of the mouth floor. - Abnormality of the mouth floor + Abnormality of the floor of mouth - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Any abnormality of the mouth floor. - Abnormality of the floor of mouth + Abnormality of the mouth floor @@ -465952,8 +468186,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. + ORCID:0000-0001-5208-3432 https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html - orcid.org/0000-0001-5208-3432 Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. @@ -465990,8 +468224,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. - orcid.org/0000-0001-5889-4463 https://en.wikipedia.org/wiki/Ganglion + ORCID:0000-0001-5889-4463 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. @@ -466028,9 +468262,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. - https://en.wikipedia.org/wiki/Ganglion - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. + https://en.wikipedia.org/wiki/Ganglion @@ -466066,9 +468300,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. - orcid.org/0000-0001-5889-4463 https://en.wikipedia.org/wiki/Ganglion An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. + ORCID:0000-0001-5889-4463 @@ -466083,19 +468317,19 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Swimmer's ear Inflammation or infection of the external auditory canal (EAC), the auricle, or both. - - Inflammation or infection of the external auditory canal (EAC), the auricle, or both. - http://search.medscape.com/search/?q=otitis%20externa - orcid.org/0000-0001-5208-3432 - - - Swimmer's ear + + Inflammation or infection of the external auditory canal (EAC), the auricle, or both. + ORCID:0000-0001-5208-3432 + http://search.medscape.com/search/?q=otitis%20externa + + + @@ -466115,16 +468349,16 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Frequent ear infections + Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. + ORCID:0000-0001-5208-3432 - - + - orcid.org/0000-0001-5208-3432 - Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. + Frequent ear infections - + + @@ -466138,9 +468372,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Epigastrium pain - https://www.healthgrades.com/symptoms/epigastric-pain + ORCID:0000-0001-5208-3432 Pain that is localized to the region of the upper abdomen immediately below the ribs. - orcid.org/0000-0001-5208-3432 + https://www.healthgrades.com/symptoms/epigastric-pain @@ -466156,6 +468390,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylaminuria (TMA) in the urine, sweat, and breath of affected individuals. Fish odour + + http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm + Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylaminuria (TMA) in the urine, sweat, and breath of affected individuals. + + + Fishy odor @@ -466168,12 +468408,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - - http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm - Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylaminuria (TMA) in the urine, sweat, and breath of affected individuals. - - - @@ -466187,13 +468421,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Pungent body odor. - Musty odour + Musty odor - Musty odor + Musty odour @@ -466210,6 +468444,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). Vaginal fish odour + + A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). + PMID:16086821 + + + Vaginal fish odour @@ -466222,12 +468462,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - - A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). - PMID:16086821 - - - @@ -466238,12 +468472,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. - orcid.org/0000-0001-5208-3432 Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy. + ORCID:0000-0001-5208-3432 - PMCID:PMC4785796 An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. + PMCID:PMC4785796 @@ -466276,8 +468510,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-06-20T21:40:50Z + ORCID:0000-0001-5208-3432 Any abnormality of the periodontium. - @@ -466288,9 +468522,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Alveolar bone loss around teeth 2017-06-20T21:41:41Z + ORCID:0000-0001-5208-3432 Bone loss around teeth A decrease in the amount of alveolar bone around the root of a tooth. - @@ -466303,7 +468537,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-06-20T21:46:19Z Blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. Oral varicella - + ORCID:0000-0001-5208-3432 @@ -466335,14 +468569,14 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-06-20T22:17:35Z A gap in the lip or lips. + ORCID:0000-0001-5208-3432 Cleft lip Cleft of the lip - Cleft lip - + @@ -466355,7 +468589,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-06-20T23:09:33Z Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. - + ORCID:0000-0001-5208-3432 http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/ @@ -466393,11 +468627,11 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-06-20T23:30:00Z A split or cleft in the uvula resulting from incomplete fusion of the palatine shelves. - + ORCID:0000-0001-5208-3432 - A split or cleft in the uvula resulting from incomplete fusion of the palatine shelves. https://en.wikipedia.org/wiki/Palatine_uvula + A split or cleft in the uvula resulting from incomplete fusion of the palatine shelves. @@ -466410,8 +468644,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Unilateral alveolar cleft of maxilla 2017-06-20T23:37:01Z + ORCID:0000-0001-5208-3432 One sided alveolar cleft of the maxilla. - @@ -466422,8 +468656,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Bilateral alveolar cleft of maxilla 2017-06-20T23:37:09Z + ORCID:0000-0001-5208-3432 Nonmidline avleolar cleft of the maxilla. - @@ -466458,7 +468692,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal T lymphocyte activation Abnormal T-cell activation Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. - + ORCID:0000-0001-5208-3432 @@ -466489,12 +468723,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-09-20T00:22:53Z + Fyler:4447 + ORCID:0000-0001-5208-3432 Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. - - MP:0000598 Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. + MP:0000598 @@ -466528,7 +468763,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-09-20T00:25:37Z Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). - + ORCID:0000-0001-5208-3432 + Fyler:4339 MP:0002151 @@ -466545,22 +468781,1474 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of radial ray 2017-10-16T20:21:52Z + ORCID:0000-0001-5208-3432 Deformity of radial ray Radial ray anomaly Radial ray abnormality Radial ray deformity An abnormality of the radial ray; the thumb bones and 1st meta carpel. - An abnormality of the radial ray; the thumb bones and 1st meta carpel. - orcid.org/0000-0002-9353-5498 + ORCID:0000-0002-9353-5498 + + + + Decreased level of 1,5 anhydroglucitol in serum + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T00:26:24Z + A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. + Decreased level of 1,5-AG in serum + Decreased level of 1,5-anhydro-D-glucitol in serum + ORCID:0000-0001-5208-3432 + Decreased level of 1,5-anhydroglucitol in serum + + + Decreased level of 1,5-anhydroglucitol in serum + http://www.hmdb.ca/metabolites/HMDB0002712 + + + + + PMID:16731998 + PMID:17659063 + PMID:9357814 + A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. + + + + + http://www.hmdb.ca/metabolites/HMDB0002712 + Decreased level of 1,5-AG in serum + + + + + + + + + + Increased level of 3-hydroxy-3-methylglutaric acid in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T01:26:32Z + ORCID:0000-0001-5208-3432 + An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. + + + PMID:23705938 + PMID:15505778 + An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. + + + + + + + + + + Increased level of allantoin in serum + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T01:42:36Z + ORCID:0000-0001-5208-3432 + An increase in the level of allantoin in the serum. + + + PMID:18636793 + An increase in the level of allantoin in the serum. + + + + + + + + + + Increased level of GABA in serum + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T01:56:05Z + Increased level of gamma-aminobutyric acid in serum + ORCID:0000-0001-5208-3432 + An increase in the level of GABA in the serum. + + + PMID:1485027 + An increase in the level of GABA in the serum. + + + + + + + + + + Decreased level of GABA in serum + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T01:56:12Z + Decreased level of gamma-aminobutyric acid in serum + ORCID:0000-0001-5208-3432 + A decrease in the level of GABA in the serum. + + + A decrease in the level of GABA in the serum. + PMID:1485027 + + + + + + + + + + Decreased level of erythritol in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T02:15:00Z + ORCID:0000-0001-5208-3432 + A decrease in the level of erythritol in the urine. + + + PMID:14988808 + A decrease in the level of erythritol in the urine. + + + + + + + + + + Decreased level of erythritol in CSF + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T02:15:08Z + ORCID:0000-0001-5208-3432 + Decreased level of erythritol in cerebrospinal fluid + A decrease in the level of erythritol in the cerebrospinal fluid. + + + A decrease in the level of erythritol in the cerebrospinal fluid. + PMID:14988808 + + + + + + + + + + Increased level of D-threitol in plasma + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T02:34:34Z + An increase in the level of D-threitol in the plasma. + ORCID:0000-0001-5208-3432 + + + PMID:14988808 + An increase in the level of D-threitol in the plasma. + + + + + + + + + + Increased level of D-threitol in CSF + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T02:34:44Z + An increase in the level of D-threitol in the cerebrospinal fluid. + ORCID:0000-0001-5208-3432 + Increased level of D-threitol in cerebrospinal fluid + + + PMID:14988808 + An increase in the level of D-threitol in the cerebrospinal fluid. + + + + + + + + + + Increased level of D-threitol in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-27T02:34:50Z + An increase in the level of D-threitol in the urine. + ORCID:0000-0001-5208-3432 + + + An increase in the level of D-threitol in the urine. + PMID:14988808 + + + + + + + + + + Decreased level of D-mannose in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:01:57Z + ORCID:0000-0001-5208-3432 + A decrease in the level of D-mannose in the urine. + + + A decrease in the level of D-mannose in the urine. + PMID:29099052 + + + + + + + + + + Increased level of galactitol in plasma + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:37:31Z + An increase in the level of galactitol in the plasma. + ORCID:0000-0001-5208-3432 + + + PMID:7671965 + An increase in the level of galactitol in the plasma. + PMID:11092512 + + + + + + + + + + Increased level of galactitol in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:38:29Z + ORCID:0000-0001-5208-3432 + An increase in the level of galactitol in the urine. + + + PMID:11092512 + An increase in the level of galactitol in the urine. + PMID:7671965 + + + + + + + + + + Increased level of galactonate in red blood cells + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:39:38Z + Increased level of galactonate in erythrocytes + ORCID:0000-0001-5208-3432 + An increase in the level of galactonate in the red blood cells. + + + An increase in the level of galactonate in the red blood cells. + PMID:14680973 + + + + + + + + + + Increased level of galactitol in red blood cells + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:40:39Z + ORCID:0000-0001-5208-3432 + Increased level of galactitol in erythrocytes + An increase in the level of galactitol in the red blood cells. + + + PMID:14680973 + An increase in the level of galactitol in the red blood cells. + + + + + + + + + + Increased level of hippuric acid in blood + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:41:34Z + Increased level of N-benzoylglycine in blood + An increase in the level of hippuric acid in the blood. + ORCID:0000-0001-5208-3432 + + + An increase in the level of hippuric acid in the blood. + PMID:22626821 + + + + + + + + + + Increased level of hippuric acid in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:42:45Z + ORCID:0000-0001-5208-3432 + An increase in the level of hippuric acid in the urine. + Increased level of N-benzoylglycine in urine + + + PMID:22626821 + An increase in the level of hippuric acid in the urine. + PMID:19551947 + + + + + + + + + + Increased level of L-fucose in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:55:21Z + ORCID:0000-0001-5208-3432 + An increase in the level of L-fucose in the urine. + + + PMID:2311216 + An increase in the level of L-fucose in the urine. + + + + + + + + + + Increased level of L-glutamic acid in blood + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:56:49Z + ORCID:0000-0001-5208-3432 + An increase in the level of L-glutamic acid in the blood. + + + PMID:7623444 + An increase in the level of L-glutamic acid in the blood. + + + + + + + + + + Increased level of propylene glycol in blood + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:57:39Z + An increase in the level of propylene glycol in the blood. + ORCID:0000-0001-5208-3432 + Increased level of propane-1,2-diol in blood + + + An increase in the level of propylene glycol in the blood. + PMID:3426740 + + + + + + + + + + Increased level of ribitol in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:58:41Z + An increase in the level of ribitol in the urine. + ORCID:0000-0001-5208-3432 + + + PMID:14988808 + An increase in the level of ribitol in the urine. + + + + + + + + + + Increased level of ribitol in CSF + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-29T22:59:19Z + ORCID:0000-0001-5208-3432 + An increase in the level of ribitol in the cerebral spinal fluid. + Increased level of ribitol in cerebrospinal fluid + + + PMID:14988808 + An increase in the level of ribitol in the cerebral spinal fluid. + + + + + + + + + + Increased level of ribose in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-30T00:47:12Z + An increase in the level of ribose in the urine. + ORCID:0000-0001-5208-3432 + + + PMID:14988808 + An increase in the level of ribose in the urine. + + + + + + + + + + Increased level of ribose in CSF + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-30T00:47:46Z + Increased level of ribose in cerebrospinal fluid + An increase in the level of ribose in the cerebrospinal fluid. + ORCID:0000-0001-5208-3432 + + + An increase in the level of ribose in the cerebrospinal fluid. + PMID:14988808 + + + + + + + + + + Increased level of xylitol in urine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-30T00:49:41Z + An increase in the level of xylitol in the urine. + ORCID:0000-0001-5208-3432 + + + PMID:14988808 + An increase in the level of xylitol in the urine. + + + + + + + + + + Increased level of xylitol in CSF + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 2018-01-30T00:50:08Z + ORCID:0000-0001-5208-3432 + An increase in the level of xylitol in the cerebrospinal fluid. + Increased level of xylitol in cerebrospinal fluid + + + An increase in the level of xylitol in the cerebrospinal fluid. + PMID:14988808 + + + + + + + + + + Increased level of L-pyroglutamic acid in urine + + 2018-02-22T18:07:36Z + ORCID:0000-0001-5208-3432 + Increased level of 5-oxo-L-proline in urine + An increase in the level of L-pyroglutamic acid in the urine. + + + PMID:4557757 + An increase in the level of L-pyroglutamic acid in the urine. + PMID:10094443 + + + + + + + + + + Chronic idiopathic urticaria + + 2018-03-02T19:33:51Z + CSU + Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. + ORCID:0000-0001-5208-3432 + Chronic spontaneous urticaria + CIU + + + Chronic spontaneous urticaria + PMID:25807072 + + + + + CSU + PMID:25807072 + + + + + + PMID:25807072 + Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. + + + + + PMID:25807072 + CIU + + + + + + + + + + + Physical urticaria + + 2018-03-02T19:37:30Z + ORCID:0000-0001-5208-3432 + Urticaria caused by physical agents, such as heat, cold, light, friction. + + + Urticaria caused by physical agents, such as heat, cold, light, friction. + PMID:11702618 + + + + + + + + + + Cold urticaria + + 2018-03-02T19:45:27Z + ORCID:0000-0001-5208-3432 + Urticaria may be caused by cold temperatures. + + + Urticaria may be caused by cold temperatures. + PMID:11702618 + + + + + + + + + + Aquagenic urticaria + + 2018-03-02T19:52:44Z + A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. + ORCID:0000-0001-5208-3432 + + + A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. + PMID:22346281 + + + + + + + + + + Solar urticaria + + 2018-03-02T20:07:52Z + Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light. + ORCID:0000-0001-5208-3432 + + + PMID:29315482 + Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light. + + + + + + + + + + Vibratory urticaria + + 2018-03-02T20:14:35Z + Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. + ORCID:0000-0001-5208-3432 + + + PMID:26841242 + Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. + + + + + + + + + + Exercise induced anaphylaxis + + 2018-03-02T20:22:59Z + ORCID:0000-0001-5208-3432 + Anaphylaxis after physical activity. + + + PMID:7400473 + Anaphylaxis after physical activity. + + + + + + @@ -466594,35 +470282,35 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Malformation of the frontal bone - Malformation of the frontal bone - orcid.org/0000-0001-5889-4463 - - - - + ORCID:0000-0001-5889-4463 Abnormality of the bone of the forehead - orcid.org/0000-0001-5889-4463 + + An abnormality of the frontal bone. + GOC:MG + + + Deformity of the frontal bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Anomaly of the frontal bone + Malformation of the frontal bone + ORCID:0000-0001-5889-4463 - GOC:MG - An abnormality of the frontal bone. + Anomaly of the frontal bone + ORCID:0000-0001-5889-4463 - + @@ -466659,26 +470347,26 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Anomaly of the lacrimal bone + ORCID:0000-0001-5889-4463 Deformity of the lacrimal bone - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Malformation of the lacrimal bone + An abnormality of the lacrimal bone. + GOC:MG - + - GOC:MG - An abnormality of the lacrimal bone. + ORCID:0000-0001-5889-4463 + Malformation of the lacrimal bone - + + ORCID:0000-0001-5889-4463 Anomaly of the lacrimal bone - orcid.org/0000-0001-5889-4463 @@ -466717,28 +470405,28 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Malformation of the palatine bone - An abnormality of the palatine bone. - GOC:MG + Anomaly of the palatine bone + ORCID:0000-0001-5889-4463 - + - Anomaly of the palatine bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Deformity of the palatine bone + ORCID:0000-0001-5889-4463 Malformation of the palatine bone - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Deformity of the palatine bone + GOC:MG + An abnormality of the palatine bone. - + @@ -466785,28 +470473,28 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of the ethmoid bone - Deformity of the ethmoid bone - orcid.org/0000-0001-5889-4463 + Malformation of the ethmoid bone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Anomaly of the ethmoid bone + GOC:MG + An abnormality of the ethmoid bone - + - orcid.org/0000-0001-5889-4463 - Malformation of the ethmoid bone + ORCID:0000-0001-5889-4463 + Deformity of the ethmoid bone - GOC:MG - An abnormality of the ethmoid bone + Anomaly of the ethmoid bone + ORCID:0000-0001-5889-4463 - + @@ -466841,9 +470529,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. - GOC:MG - http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. + http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html + GOC:MG @@ -466862,25 +470550,25 @@ If the skeletal ages of individuals bones are different, i.e., different bones h A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. - orcid.org/0000-0001-5889-4463 + A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. + http://en.wikipedia.org/wiki/Symblepharon + GOC:MG + + + + Eyelid adhesion to globe of eye + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Eyelid stuck to eyeball - - A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. - GOC:MG - http://en.wikipedia.org/wiki/Symblepharon - - - @@ -466917,21 +470605,21 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Double eyelid - The presence of more than the normal number of eyelids. - GOC:MG - - - - - orcid.org/0000-0001-5889-4463 Extra eyelid + ORCID:0000-0001-5889-4463 + + GOC:MG + The presence of more than the normal number of eyelids. + + + Double eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -466974,38 +470662,38 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Developmental hypoplasia of the eyelid. - orcid.org/0000-0001-5889-4463 - Decreased size of eyelid + Small eyelid + ORCID:0000-0001-5889-4463 - + + ORCID:0000-0001-5889-4463 Short eyelid - orcid.org/0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Underdevelopment of eyelid + GOC:MG + Developmental hypoplasia of the eyelid. - - + - Developmental hypoplasia of the eyelid. - GOC:MG + ORCID:0000-0001-5889-4463 + Decreased size of eyelid - + + - Small eyelid - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Underdevelopment of eyelid - + @@ -467021,8 +470709,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormally small eyelid - orcid.org/0000-0001-5889-4463 Abnormally small eyelid + ORCID:0000-0001-5889-4463 @@ -467087,22 +470775,22 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Incomplete mineralization of palatine bone - orcid.org/0000-0001-5889-4463 Incomplete mineralization of palatine bone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Incomplete formation of palatine bone + ORCID:0000-0001-5889-4463 + Incomplete calcification of palatine bone - + - Incomplete calcification of palatine bone - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Incomplete formation of palatine bone - + GOC:MG @@ -467154,6 +470842,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Lack of formation of the palatine bone. Absence of palatine bone calcification + + Absence of palatine bone mineralization + ORCID:0000-0001-5889-4463 + + + + + Absence of palatine bone calcification + ORCID:0000-0001-5889-4463 + + + HPO:skoehler @@ -467190,13 +470890,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Absence of palatine bone calcification - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Absence of palatine bone formation @@ -467207,12 +470901,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - - orcid.org/0000-0001-5889-4463 - Absence of palatine bone mineralization - - - @@ -467227,8 +470915,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of soft palate muscles - orcid.org/0000-0001-5889-4463 An abnormality of one or more of the five muscles of the soft palate. + ORCID:0000-0001-5889-4463 @@ -467269,7 +470957,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of any of the muscles of the pharynx. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -467285,7 +470973,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of the tensor veli palatini muscle - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 An abnormality of the tensor veli palatini muscle @@ -467324,7 +471012,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of musculus uvulae - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 An abnormality of the uvular muscle @@ -467364,25 +471052,25 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of the muscles of the structure of the nose. - Abnormality of musculature of the nose + ORCID:0000-0001-5889-4463 + An abnormality of the muscles of the structure of the nose. - - + - orcid.org/0000-0001-5889-4463 - An abnormality of the muscles of the structure of the nose. + Abnormality of nasal musculature - + + - Abnormality of muscle of nose + Abnormality of musculature of the nose - Abnormality of nasal musculature + Abnormality of muscle of nose @@ -467400,18 +471088,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of musculature of facial expression An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. - - orcid.org/0000-0001-5889-4463 - An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. - - - Abnormality of muscle of facial expression + + ORCID:0000-0001-5889-4463 + An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. + + + @@ -467424,8 +471112,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of the levator labii superioris alaeque nasi muscle. - orcid.org/0000-0001-5889-4463 An abnormality of the levator labii superioris alaeque nasi muscle. + ORCID:0000-0001-5889-4463 @@ -467441,18 +471129,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h UMLS:C4073203 An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. - - orcid.org/0000-0001-5889-4463 - An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. - - - Abnormality of the common carotid artery + + An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. + ORCID:0000-0001-5889-4463 + + + @@ -467486,8 +471174,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. + ORCID:0000-0001-5889-4463 An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. - orcid.org/0000-0001-5889-4463 @@ -467525,19 +471213,19 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of the maxillary antrum An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. - - An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. - orcid.org/0000-0001-5889-4463 - - - Abnormality of the upper jaw sinus - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + + ORCID:0000-0001-5889-4463 + An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. + + + @@ -467550,8 +471238,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of an external jugular vein of the neck. + ORCID:0000-0001-5889-4463 An abnormality of an external jugular vein of the neck. - orcid.org/0000-0001-5889-4463 @@ -467572,43 +471260,43 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Weakness of both sides of the face - orcid.org/0000-0001-5889-4463 - Bilateral facial muscle paralysis + Bilateral facial muscle weakness + ORCID:0000-0001-5889-4463 Paralysis of both sides of the face - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Bilateral facial muscle weakness - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Bilateral facial muscle paralysis - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Bilateral facial paralysis - Two-sided or bilateral weakness of the muscles of facial expression and eye closure. - orcid.org/0000-0001-5889-4463 - - - - - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Weakness of both sides of the face + + ORCID:0000-0001-5889-4463 + Two-sided or bilateral weakness of the muscles of facial expression and eye closure. + + + @@ -467624,15 +471312,21 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal morphology of the midface Dysmorphic midface + + Dysmorphic midface + ORCID:0000-0001-5889-4463 + + + An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Dysmorphic midface + ORCID:0000-0001-5889-4463 + Abnormal morphology of the midface @@ -467642,12 +471336,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - - orcid.org/0000-0001-5889-4463 - Abnormal morphology of the midface - - - @@ -467682,8 +471370,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h UMLS:C4073209 UMLS:C4280272 UMLS:C4280273 - Large maxilla Big maxilla + Large maxilla Prognathia of the upper jaw Maxillary macrognathia Hypertrophy of upper jaw @@ -467706,129 +471394,129 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Increased size of upper jaw - orcid.org/0000-0001-5889-4463 - Maxillary excess + ORCID:0000-0001-5889-4463 + Upper jaw bone excess - orcid.org/0000-0001-5889-4463 - Increased size of upper jaw + ORCID:0000-0001-5889-4463 + Upper jaw excess - orcid.org/0000-0001-5889-4463 - Big maxilla + Increased size of upper jaw + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 - Maxillary hyperplasia + ORCID:0000-0001-5889-4463 + Prominent maxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Increased projection of upper jaw - Hypertrophy of maxilla - orcid.org/0000-0001-5889-4463 + Increased size of maxilla + ORCID:0000-0001-5889-4463 - + - Prominent maxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Hypertrophy of upper jaw - + - orcid.org/0000-0001-5889-4463 - Big upper jaw + Hyperplasia of upper jaw + ORCID:0000-0001-5889-4463 - - orcid.org/0000-0001-5889-4463 - Increased size of maxilla + ORCID:0000-0001-5889-4463 + Big upper jaw + - Hyperplasia of upper jaw - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Large upper jaw + - orcid.org/0000-0001-5889-4463 - Large upper jaw + ORCID:0000-0001-5889-4463 + Big maxilla - + - orcid.org/0000-0001-5889-4463 - Prominent upper jaw + ORCID:0000-0001-5889-4463 + Maxillary excess - - orcid.org/0000-0001-5889-4463 - Upper jaw bone excess + ORCID:0000-0001-5889-4463 + Increased projection of maxilla - + - orcid.org/0000-0001-5889-4463 - Maxillary macrognathia + ORCID:0000-0001-5889-4463 + Maxillary prominence - orcid.org/0000-0001-5889-4463 - Upper jaw excess + Hypertrophy of maxilla + ORCID:0000-0001-5889-4463 - - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Maxillary prognathia - orcid.org/0000-0001-5889-4463 - Hypertrophy of upper jaw + Maxillary hyperplasia + ORCID:0000-0001-5889-4463 - + - Increased projection of maxilla - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Prominent upper jaw - + + - orcid.org/0000-0001-5889-4463 - Large maxilla + ORCID:0000-0001-5889-4463 + Maxillary macrognathia - orcid.org/0000-0001-5889-4463 - Maxillary prominence + ORCID:0000-0001-5889-4463 + Large maxilla @@ -467872,59 +471560,59 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. - Hyperplasia of the primary palate bone - orcid.org/0000-0001-5889-4463 + Large premaxilla + ORCID:0000-0001-5889-4463 + - An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + Increased size of the primary palate bone - + - orcid.org/0000-0001-5889-4463 - Hyperplasia of the intermaxillary bone + Hyperplasia of the primary palate bone + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Increased size of the primary palate bone + ORCID:0000-0001-5889-4463 + Increased size of premaxilla - orcid.org/0000-0001-5889-4463 - Increased size of premaxilla + ORCID:0000-0001-5889-4463 + Hyperplasia of the intermaxillary bone - orcid.org/0000-0001-5889-4463 - Large primary palate bone + Premaxillary excess + ORCID:0000-0001-5889-4463 - Primary palate bone excess - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 + An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. - - + - orcid.org/0000-0001-5889-4463 - Premaxillary excess + ORCID:0000-0001-5889-4463 + Primary palate bone excess - Large premaxilla - orcid.org/0000-0001-5889-4463 + Large primary palate bone + ORCID:0000-0001-5889-4463 @@ -467939,47 +471627,47 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Bromhidrosis Bromidrosis - A perceived unpleasant smell given off by the body. BO + A perceived unpleasant smell given off by the body. Body odor Body odour Osmidrosis - http://emedicine.medscape.com/article/1072342-overview - Osmidrosis + Body odor + - HPO:probinson - A perceived unpleasant smell given off by the body. + http://emedicine.medscape.com/article/1072342-overview + Bromidrosis - + - BO - + Bromhidrosis + http://emedicine.medscape.com/article/1072342-overview + Osmidrosis http://emedicine.medscape.com/article/1072342-overview - Bromidrosis - Body odor + BO + - - Bromhidrosis - http://emedicine.medscape.com/article/1072342-overview + HPO:probinson + A perceived unpleasant smell given off by the body. - + @@ -467993,18 +471681,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Rectal pain Pain in and around your anus or rectum (perianal region). - - Anal pain - - - - http://www.mayoclinic.org/symptoms/anal-pain/basics/definition/sym-20050918 Pain in and around your anus or rectum (perianal region). + + Anal pain + + + + Rectal pain @@ -468053,8 +471741,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Inflammation of the urethra. - PMID:26220178 Inflammation of the urethra. + PMID:26220178 @@ -468070,17 +471758,17 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. - PMID:7575269 PMID:27843899 - Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. + Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. - + + PMID:7575269 + Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. PMID:27843899 - Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. - + @@ -468095,16 +471783,16 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. + Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. HPO:probinson - Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. - + HPO:probinson - Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. + Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. - + @@ -468120,22 +471808,22 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Often associated with Cowden syndrome. - It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. PMID:11073535 + It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. - Often associated with Cowden syndrome. - PMID:11073535 + LDD + - + - LDD - + PMID:11073535 + Often associated with Cowden syndrome. - + @@ -468199,6 +471887,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Puffy face Puffy facies + + HPO:probinson + A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. + + + Moon face @@ -468211,12 +471905,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - - HPO:probinson - A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. - - - @@ -468260,13 +471948,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of GnRH level - + - A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland. HPO:probinson + A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland. @@ -468283,8 +471971,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Absence of GnRH pulsatility - Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. HPO:probinson + Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. @@ -468297,20 +471985,20 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal test result 2017-05-12T16:12:17Z - Abnormal test results Test based abnormality + Abnormal test results Abnormal finding in a diagnostic test or assay. Abnormal test result - + ORCID:0000-0001-7941-2961 - Abnormal test results + Abnormal test result - Abnormal test result + Abnormal test results @@ -468324,8 +472012,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal cardiac test 2017-05-12T16:23:33Z + ORCID:0000-0001-7941-2961 Abnormal test result of cardiovascular physiology. - @@ -468338,8 +472026,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-05-12T16:33:16Z Abnormal cardiac magnetic resonance imaging Abnormal heart MRI + ORCID:0000-0001-7941-2961 Abnormal results of a MRI for the heart. - @@ -468350,13 +472038,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal cardiac catheterization 2017-05-12T16:36:51Z + ORCID:0000-0001-7941-2961 Abnormal cardiac cath Abnormal results from the diagnostic tests resulting from cardiac catheterization. - Abnormal cardiac cath - + @@ -468373,19 +472061,19 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal exercise test Abnormal results of exercise on heart function. Abnormal cardiac exercise test - + ORCID:0000-0001-7941-2961 - Abnormal treadmill test + Abnormal exercise test - + - Abnormal exercise test + Abnormal treadmill test - + @@ -468396,13 +472084,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal resting energy expenditure from metabolic cart test 2017-05-12T16:49:32Z + ORCID:0000-0001-7941-2961 Abnormal metabolic cart test Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). - - http://emedicine.medscape.com/article/2009552-overview Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). + http://emedicine.medscape.com/article/2009552-overview @@ -468416,7 +472104,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-05-12T16:54:55Z Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. - + ORCID:0000-0001-7941-2961 https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers @@ -468433,13 +472121,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Reduced brain gamma-aminobutyric acid level by MRS 2017-05-18T19:29:53Z + ORCID:0000-0001-7941-2961 An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). - - http://orcid.org/0000-0003-0169-8159 PMID:27388694 An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). + ORCID:0000-0003-0169-8159 @@ -468484,13 +472172,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-05-18T19:38:52Z Abnormal serum DHEA Abnormal serum androstenolone level + ORCID:0000-0001-7941-2961 Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids. A deviation from the normal concentration of dehydroepiandrosterone in the circulation. - Abnormal serum DHEA - + @@ -468529,9 +472217,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-05-25T16:40:00Z + ORCID:0000-0001-7941-2961 Absence of shoulder muscles. Absent shoulder muscle - @@ -468563,7 +472251,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-05-25T16:51:46Z Absence of the musculature of the pelvis. - + ORCID:0000-0001-7941-2961 @@ -468594,8 +472282,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-05-25T16:53:10Z + ORCID:0000-0001-7941-2961 Underdevelopment of the musculature of the pelvis. - @@ -468629,7 +472317,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Absence of the colon Congenital absence of the colon Aplasia of the colon - + ORCID:0000-0001-7941-2961 @@ -468640,19 +472328,19 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Cotton wool plaques 2017-05-30T18:52:34Z + ORCID:0000-0001-7941-2961 Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. CWPs - - Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. PMID:20460383 + Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. CWPs - + @@ -468663,14 +472351,14 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormal hepatic glycogen storage - + 2017-06-01T16:35:52Z + ORCID:0000-0001-7941-2961 Change in normal glycogen storage content. - - PMID:26835382 Change in normal glycogen storage content. + PMID:26835382 @@ -468714,12 +472402,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-06-01T16:54:00Z An elevation in bone density in one or more carpal bones of the hand. - http://orcid.org/0000-0003-0169-8159 - + ORCID:0000-0003-0169-8159 + ORCID:0000-0001-7941-2961 - An elevation in bone density in one or more carpal bones of the hand. PMID:21120491 + An elevation in bone density in one or more carpal bones of the hand. @@ -468752,11 +472440,11 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-06-07T17:35:08Z - http://orcid.org/0000-0003-0169-8159 Aberrant neuronal branching + ORCID:0000-0001-7941-2961 Abnormal neuronal branching + ORCID:0000-0003-0169-8159 Abnormality of the structure and branching of the dendrites of a neuron. - Abnormality of the structure and branching of the dendrites of a neuron. @@ -468774,11 +472462,993 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2018-01-08T19:18:59Z Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. - + ORCID:0000-0001-7941-2961 + + + + Nasolacrimal sac obstruction + + + + + + + + + + + + + + + + + + + + + + 2018-01-31T16:35:58Z + ORCID:0000-0001-7941-2961 + Blockage of the nasolacrimal sac. + + + Blockage of the nasolacrimal sac. + PMID:17203310 + + + + + + + + + + Nasolacrimal sac granuloma + + + + + + + + + + + + + + + + + + + + + + 2018-01-31T16:48:25Z + A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. + ORCID:0000-0001-7941-2961 + + + A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. + PMID:13434546 + + + + + + + + + + Nasolacrimal sac papilloma + + 2018-01-31T16:58:13Z + ORCID:0000-0001-7941-2961 + Benign tumor of the nasolacrimal sac. + + + Benign tumor of the nasolacrimal sac. + PMID:4352147 + + + + + + + + + + Nasolacrimal sac epithelial papillary carcinoma + + 2018-01-31T17:14:14Z + ORCID:0000-0001-7941-2961 + The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. + + + The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. + PMID:16253035 + + + + + + + + + + Conjunctival cicatrization + + 2018-02-02T14:47:58Z + Cicatrizating conjunctivitis + Cicatricial conjunctivitis + ORCID:0000-0001-7941-2961 + Conjunctival cicatricial conjunctivitis + An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. + + + An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. + ORCID:0000-0003-0986-4123 + + + + + + + + + + Dermolipoma of the conjunctiva + + 2018-02-02T15:28:59Z + A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. + ORCID:0000-0001-7941-2961 + Conjunctival lipodermoid + + + Dutton, Jonathan J., Gregg S. Gayre, and Alan D. Proia. Diagnostic atlas of common eyelid diseases. New York: Informa Healthcare, 2007. Print. + A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. + + + + + + + + + + Myopic astigmatism + + 2018-02-02T15:53:24Z + ORCID:0000-0001-7941-2961 + A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. + + + A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. + https://www.aoa.org/ + + + + + + + + + + Latent hypermetropia + + 2018-02-02T18:41:23Z + Latent hyperopia + ORCID:0000-0001-7941-2961 + A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye. + + + + + + + + Eyelid retraction + + 2018-02-05T16:22:49Z + ORCID:0000-0001-7941-2961 + With the eyes in primary position, the sclera is visible above the superior corneal limbus. + + + https://www.aao.org/bcscsnippetdetail.aspx?id=03ad3eb3-3445-4be2-9470-2c4845169b75 + PMID:8719687 + With the eyes in primary position, the sclera is visible above the superior corneal limbus. + + + + + + + + + + Upper eyelid retraction + + 2018-02-05T16:39:46Z + An elevation of the eyelid above the normal level in the primary position. + ORCID:0000-0001-7941-2961 + + + PMID:7735674 + An elevation of the eyelid above the normal level in the primary position. + + + + + + + + + + Collier's sign + + 2018-02-05T16:48:13Z + A unilateral or bilateral eyelid retraction due to midbrain lesions. + ORCID:0000-0001-7941-2961 + + + PMID:17323781 + A unilateral or bilateral eyelid retraction due to midbrain lesions. + + + + + + + + + + Seborrhoeic blepharitis + + 2018-02-05T17:03:04Z + There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. + Inflamation of the eyelid due to overactivity of the sebaceous gland. + ORCID:0000-0001-7941-2961 + + + PMID:10777824 + Inflamation of the eyelid due to overactivity of the sebaceous gland. + + + + + PMID:10777824 + There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. + + + + + + + + + + Nasolacrimal sac lymphoma + + 2018-02-12T18:31:38Z + ORCID:0000-0001-7941-2961 + A type of lymphoma that involves the nasolacrimal sac. + + + A type of lymphoma that involves the nasolacrimal sac. + ORCID:0000-0003-0986-4123 + PMID:9392338 + + + + + + + + + + Delayed canalization of nasolacrimal duct + + + + + + + + + + + + + + + + + + + + + + 2018-02-19T15:38:47Z + A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. + ORCID:0000-0001-7941-2961 + + + PMID:11222337 + A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. + + + + + + + + + + Retinopathy of prematurity + + 2018-02-19T18:14:43Z + An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. + ORCID:0000-0001-7941-2961 + + + PMID:16009843 + An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + + + + + + + + + + Retinopathy of prematurity stage 1 + + 2018-02-19T18:27:23Z + ROP stage 1 + The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina. + ORCID:0000-0001-7941-2961 + + + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina. + PMID:16009843 + + + + + ROP stage 1 + + + + + + + + + + + Retinopathy of prematurity stage 2 + + 2018-02-19T18:30:02Z + The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous. + ORCID:0000-0001-7941-2961 + ROP stage 2 + + + ROP stage 2 + + + + + + The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous. + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + + + + + + + + + + Retinopathy of prematurity stage 3 + + 2018-02-19T18:43:45Z + The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina. + ROP stage 3 + ORCID:0000-0001-7941-2961 + + + ROP stage 3 + + + + + + The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina. + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + + + + + + + + + + Retinopathy of prematurity stage 4 + + 2018-02-19T18:51:13Z + ORCID:0000-0001-7941-2961 + Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase. + ROP stage 4 + Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment. + + + ROP stage 4 + + + + + + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment. + + + + + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase. + + + + + + + + + + Retinopathy of prematurity stage 4a + + 2018-02-19T18:56:37Z + ROP stage 4a + ORCID:0000-0001-7941-2961 + A detachment that involves the peripheral retina that does not extend into the macula. + + + A detachment that involves the peripheral retina that does not extend into the macula. + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + + + + + ROP stage 4a + + + + + + + + + + + Retinopathy of prematurity stage 4b + + 2018-02-19T18:56:48Z + ORCID:0000-0001-7941-2961 + ROP 4b + A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. + + + A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + + + + + ROP 4b + + + + + + + + + + + Retinopathy of prematurity stage 5 + + 2018-02-19T19:11:28Z + Funnel detachment from the retina with generally traction in all four quadrants. + ORCID:0000-0001-7941-2961 + ROP stage 5 + + + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + Funnel detachment from the retina with generally traction in all four quadrants. + + + + + ROP stage 5 + + + + + + + + + + + Retinopathy of prematurity stage 5a + + 2018-02-19T19:16:16Z + ORCID:0000-0001-7941-2961 + ROP stage 5a + An open funnel detachment of the retina with generally traction in all four quadrants. + + + ROP stage 5a + + + + + + An open funnel detachment of the retina with generally traction in all four quadrants. + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + + + + + + + + + + Retinopathy of prematurity stage 5b + + 2018-02-19T19:16:26Z + ORCID:0000-0001-7941-2961 + ROP stage 5b + A closed funnel detachment of the retina with generally traction in all four quadrants. + + + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + A closed funnel detachment of the retina with generally traction in all four quadrants. + + + + + ROP stage 5b + + + + + + + + + + + Retinopathy of prematurity zone I + + 2018-02-19T19:24:42Z + Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. + ORCID:0000-0001-7941-2961 + ROP zone 1 + + + Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + PMID:16009843 + + + + + ROP zone 1 + + + + + + + + + + + Retinopathy of prematurity zone II + + 2018-02-19T19:52:54Z + ROP zone II + Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. + ORCID:0000-0001-7941-2961 + + + ROP zone II + + + + + + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. + PMID:16009843 + + + + + + + + + + Retinopathy of prematurity zone III + + 2018-02-19T19:53:11Z + Retinopathy which is a residual crescent of retina anterior to zone II. + ROP zone III + ORCID:0000-0001-7941-2961 + + + ROP zone III + + + + + + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + Retinopathy which is a residual crescent of retina anterior to zone II. + PMID:16009843 + + + + + + + + + + Retinopathy of prematurity plus + + 2018-02-19T20:17:35Z + Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. + ROP plus + ORCID:0000-0001-7941-2961 + + + Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. + PMID:16009843 + + + + + ROP plus + + + + + + + + + + + Retinopathy of prematurity pre-plus + + 2018-02-19T20:18:12Z + ROP pre-plus + Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. + ORCID:0000-0001-7941-2961 + As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. + + + ROP pre-plus + + + + + + As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. + PMID:16009843 + + + + + Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. + PMID:16009843 + + + + + + + + + + Retinopathy of prematurity threshold + + 2018-02-19T20:26:45Z + A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. + ORCID:0000-0001-7941-2961 + ROP threshold + + + ROP threshold + + + + + + A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + + + + + + + + + + Retinopathy of prematurity prethreshold + + 2018-02-19T20:26:57Z + High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. + ROP prethreshold + ORCID:0000-0001-7941-2961 + + + Lee T. (2017) Classification of ROP. In: Kychenthal B. A., Dorta S. P. (eds) Retinopathy of Prematurity. Springer, Cham + High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. + + + + + ROP prethreshold + + + + + + + + + + + Latent myopia + + 2018-02-26T17:14:19Z + ORCID:0000-0001-7941-2961 + The difference between total and manifest myopia. + + + The difference between total and manifest myopia. + ORCID:0000-0003-0986-4123 + + + + + + + + + + Paralytic ectropion + + 2018-02-26T17:37:32Z + ORCID:0000-0001-7941-2961 + A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. + + + ISBN-13:9781416029076 + ORCID:0000-0003-0986-4123 + A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. + + + + + + + + + + Conjunctival dermolipoma + + 2018-02-26T17:48:12Z + ORCID:0000-0001-7941-2961 + A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. + + + A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. + ORCID:0000-0003-0986-4123 + + + + + + + + + + Absolute eccentric fixation + + 2018-02-26T18:22:07Z + Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. + ORCID:0000-0001-7941-2961 + + + ORCID:0000-0003-0986-4123 + Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. + + + + + + + + + + Abnormal ocular alignment + + 2018-02-26T18:50:33Z + ORCID:0000-0001-7941-2961 + Any deviation from the normal ocular alignment. + + + Any deviation from the normal ocular alignment. + ORCID:0000-0001-7941-2961 + + + + + + + + + + Dissociated vertical deviation + + 2018-02-26T18:53:08Z + Dissociated vertical deviation (DVD ) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. + ORCID:0000-0001-7941-2961 + An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. + + + ISBN-13:978-0199679980 + An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. + + + + + Dissociated vertical deviation (DVD ) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. + ISBN-13:978-0199679980 + ORCID:0000-0003-0986-4123 + + + + + + + + + + Dissociated horizontal deviation + + 2018-02-26T18:53:28Z + A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. + ORCID:0000-0001-7941-2961 + + + A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. + PMID:18427617 + + + + + + + + + + Alternating hypetropia + + 2018-02-26T19:13:10Z + A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. + ORCID:0000-0001-7941-2961 + + + ORCID:0000-0003-0986-4123 + A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. + + + + + + + + + + Alternating hyperphoria + + 2018-02-26T19:15:24Z + ORCID:0000-0001-7941-2961 + A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. + + + A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. + ORCID:0000-0003-0986-4123 + + + + + + + + + + Alternating hypotropia + + 2018-02-26T19:22:54Z + A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. + ORCID:0000-0001-7941-2961 + + + A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. + ORCID:0000-0003-0986-4123 + + + + + + + + + + Alternating hypophoria + + 2018-02-26T19:24:11Z + ORCID:0000-0001-7941-2961 + A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. + + + ORCID:0000-0003-0986-4123 + A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. + + + + + + + + + + Pseudophakia + + 2018-02-26T20:00:29Z + ORCID:0000-0001-7941-2961 + The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). + + + The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). + https://nei.nih.gov/faqs/cataract-pseudophakia + + + + + + @@ -468806,7 +473476,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-08-03T19:50:21Z Flat wart Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. - + ORCID:0000-0002-6387-4317 Flat wart @@ -468831,14 +473501,14 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2017-08-03T19:57:54Z Scleroderma lung disease Scleroderma of lung + ORCID:0000-0002-6387-4317 Lung disease with systemic sclerosis It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. - + It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. RGD:gthayman PMID:7378088 - It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. @@ -468849,10 +473519,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h obsolete Abnormal heart morphology - 2014-06-30T23:52:23Z HP:3000001 true - vasilevs HP:0001627 @@ -469376,6 +474044,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h human_phenotype vasilevs + + An abnormality of the platysma muscle. + GOC:TermGenie + ORCID:0000-0001-5889-4463 + + + true @@ -469388,13 +474063,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - - An abnormality of the platysma muscle. - GOC:TermGenie - orcid.org/0000-0001-5889-4463 - - - @@ -469431,18 +474099,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h human_phenotype vasilevs - - true - - - - An abnormality of a procerus. GOC:TermGenie + + true + + + + @@ -469523,7 +474191,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of the styloglossus muscle. GOC:TermGenie - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -469651,12 +474319,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of inside lining of cheek Abnormality of cheek mucosa - - true - - - - An abnormality of a buccal mucosa. GOC:TermGenie @@ -469664,15 +474326,21 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - orcid.org/0000-0001-5889-4463 - Abnormality of inside lining of cheek + true + + + + + + ORCID:0000-0001-5889-4463 + Abnormality of cheek mucosa - Abnormality of cheek mucosa - orcid.org/0000-0001-5889-4463 + Abnormality of inside lining of cheek + ORCID:0000-0001-5889-4463 @@ -469802,18 +474470,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h human_phenotype vasilevs - - An abnormality of a cartilage of external ear. - GOC:TermGenie - - - true + + An abnormality of a cartilage of external ear. + GOC:TermGenie + + + @@ -469852,7 +474520,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of the angular artery, the terminal branch of the facial artery. GOC:TermGenie - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -469895,7 +474563,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Any structural abnormality of a facial artery, one of the branches of the external carotid artery. GOC:TermGenie - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -469947,10 +474615,9 @@ If the skeletal ages of individuals bones are different, i.e., different bones h obsolete Abnormality of common carotid artery plus branches - 2015-08-07T00:16:11Z HP:3000026 true - vasilevs + HP:0430021 @@ -470071,18 +474738,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h vasilevs Abnormality of depressor labii inferioris muscle - - true - - - - An abnormality of a depressor labii inferioris. GOC:TermGenie + + true + + + + @@ -470124,22 +474791,16 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of the bony eye socket - true - - - - - - orcid.org/0000-0001-5889-4463 - Abnormality of the orbital bones of skull + Abnormality of bones of the orbit of the skull + ORCID:0000-0001-5889-4463 - orcid.org/0000-0001-5889-4463 - Abnormality of the bony eye socket + true + - + An abnormality of an orbit of skull. @@ -470148,8 +474809,14 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Abnormality of bones of the orbit of the skull - orcid.org/0000-0001-5889-4463 + Abnormality of the orbital bones of skull + ORCID:0000-0001-5889-4463 + + + + + ORCID:0000-0001-5889-4463 + Abnormality of the bony eye socket @@ -470277,29 +474944,29 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of adenoids - Abnormality of pharyngeal tonsil - orcid.org/0000-0001-5889-4463 + GOC:TermGenie + The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. + ORCID:0000-0001-5889-4463 - + - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of adenoids Abnormality of nasopharyngeal tonsil - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - GOC:TermGenie - The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. - orcid.org/0000-0001-5889-4463 + Abnormality of pharyngeal tonsil + ORCID:0000-0001-5889-4463 - + @@ -470344,56 +475011,56 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Anomaly of cartilage of nasal septum - true - - - - - - An abnormality of a cartilage of nasal septum. - GOC:TermGenie + Abnormality of cartilage of nasal septum - + + Anomaly of cartilage of nasal septum - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 - Abnormality of cartilage of nasal septum + Abnormality of cartilage of septum of nose + ORCID:0000-0001-5889-4463 true - + - Malformation of cartilage of nasal septum - orcid.org/0000-0001-5889-4463 + Deformity of cartilage of nasal septum + ORCID:0000-0001-5889-4463 - Abnormality of cartilage of septum of nose - orcid.org/0000-0001-5889-4463 + true + - - + - orcid.org/0000-0001-5889-4463 - Deformity of cartilage of nasal septum + Malformation of cartilage of nasal septum + ORCID:0000-0001-5889-4463 + + An abnormality of a cartilage of nasal septum. + GOC:TermGenie + + + @@ -470431,7 +475098,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -470474,13 +475141,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h vasilevs Abnormality of vasculature of head - - An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. - GOC:TermGenie - orcid.org/0000-0001-5889-4463 - - - Abnormality of blood vessel of head @@ -470488,10 +475148,10 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Abnormality of head blood vessel + true + - - + true @@ -470500,10 +475160,17 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - true - + Abnormality of head blood vessel - + + + + + An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. + GOC:TermGenie + ORCID:0000-0001-5889-4463 + + @@ -470547,11 +475214,10 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of the cervical vasculature - An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. - GOC:TermGenie - orcid.org/0000-0001-5889-4463 + Abnormality of neck blood vessel - + + true @@ -470560,22 +475226,23 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - true - + An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. + GOC:TermGenie + ORCID:0000-0001-5889-4463 - + - Abnormality of neck blood vessel + Abnormality of blood vessel of neck - Abnormality of blood vessel of neck + true + - - + @@ -470583,14 +475250,14 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Abnormality of cricoid cartilage + Abnormal cricoid cartilage morphology - + @@ -470607,23 +475274,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2015-08-07T00:36:11Z - An abnormality of a cricoid cartilage. + Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. HP:3000038 UMLS:C4073246 human_phenotype vasilevs + Abnormality of cricoid cartilage - true - + Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. + GOC:TermGenie - + - An abnormality of a cricoid cartilage. - GOC:TermGenie + true + - + @@ -470702,18 +475370,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h vasilevs Abnormality of ethmoidal air cells - - true - - - - An abnormality of an ethmoid sinus. GOC:TermGenie + + true + + + + @@ -470856,7 +475524,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - orcid.org/0000-0001-5208-3432 + ORCID:0000-0001-5208-3432 Abnormal vein of face @@ -470906,7 +475574,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h An abnormality of a frontal process of the maxilla bone. GOC:TermGenie - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 @@ -471033,19 +475701,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h true - + - - Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). - GOC:TermGenie - - - true - + @@ -471055,6 +475717,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). + GOC:TermGenie + + + @@ -471355,12 +476023,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h vasilevs Abnormality of lower pharynx - - An abnormality of a hypopharynx. - GOC:TermGenie - - - Abnormality of hypopharynx @@ -471368,11 +476030,17 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - orcid.org/0000-0001-5889-4463 + ORCID:0000-0001-5889-4463 Abnormality of lower pharynx + + An abnormality of a hypopharynx. + GOC:TermGenie + + + true @@ -471417,7 +476085,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h true - + @@ -471429,7 +476097,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h true - + @@ -471472,16 +476140,10 @@ If the skeletal ages of individuals bones are different, i.e., different bones h true - + - - An abnormality of an inferior alveolar nerve. - GOC:TermGenie - - - true @@ -471490,10 +476152,16 @@ If the skeletal ages of individuals bones are different, i.e., different bones h true - + + + An abnormality of an inferior alveolar nerve. + GOC:TermGenie + + + @@ -471572,18 +476240,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h human_phenotype vasilevs - - An abnormality of an inferior oblique extraocular muscle. - GOC:TermGenie - - - true + + An abnormality of an inferior oblique extraocular muscle. + GOC:TermGenie + + + @@ -471619,18 +476287,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h human_phenotype vasilevs - - An abnormality of an inferior rectus extraocular muscle. - GOC:TermGenie - - - true + + An abnormality of an inferior rectus extraocular muscle. + GOC:TermGenie + + + @@ -471766,19 +476434,19 @@ If the skeletal ages of individuals bones are different, i.e., different bones h true - + true - + true - + @@ -471825,12 +476493,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h vasilevs Abnormality of internal carotid artery - - true - - - - true @@ -471843,6 +476505,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + true + + + + @@ -471927,8 +476595,8 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + ORCID:0000-0001-5889-4463 Abnormality of intrinsic lingual muscle - orcid.org/0000-0001-5889-4463 @@ -471971,13 +476639,13 @@ If the skeletal ages of individuals bones are different, i.e., different bones h true - + true - + @@ -472041,7 +476709,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - Abnormality of lateral crico-arytenoid + Abnormal lateral cricoarytenoid muscle morphology @@ -472067,12 +476735,20 @@ If the skeletal ages of individuals bones are different, i.e., different bones h 2015-08-07T03:38:35Z Abnormality of lateral cricoarytenoid muscle - An abnormality of a lateral crico-arytenoid. + Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. HP:3000067 UMLS:C4073274 human_phenotype vasilevs + Abnormality of lateral crico-arytenoid + Abnormal anterior cricoarytenoid muscle morphology + + true + + + + true @@ -472080,7 +476756,7 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - An abnormality of a lateral crico-arytenoid. + Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. GOC:TermGenie @@ -472091,12 +476767,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - - true - - - - @@ -472303,6 +476973,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h human_phenotype vasilevs + + true + + + + An abnormality of a levator palpebrae superioris. GOC:TermGenie @@ -472315,12 +476991,6 @@ If the skeletal ages of individuals bones are different, i.e., different bones h - - true - - - - @@ -472458,29 +477128,29 @@ If the skeletal ages of individuals bones are different, i.e., different bones h Abnormality of lingual nerve - Any structural anomaly of a lingual nerve. - GOC:TermGenie - PMID:27662622 + true + - + true - + true - + - true - + Any structural anomaly of a lingual nerve. + GOC:TermGenie + PMID:27662622 - + @@ -472821,6 +477491,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -473403,6 +478079,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -473817,6 +478499,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -473877,18 +478565,36 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + @@ -473931,6 +478637,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -473967,6 +478679,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -474009,6 +478727,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -474117,6 +478847,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -474351,6 +479087,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -474411,6 +479159,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -474423,6 +479183,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -474447,6 +479213,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -474555,6 +479333,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -474687,6 +479471,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -474789,6 +479579,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -474861,6 +479657,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475005,6 +479807,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475089,6 +479897,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -475149,6 +479969,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475251,6 +480077,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475437,6 +480269,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475449,12 +480287,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -475485,6 +480335,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475521,6 +480377,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475575,12 +480437,48 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -475611,6 +480509,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + @@ -475635,12 +480551,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -475725,6 +480653,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475803,6 +480737,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475815,6 +480755,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475923,6 +480869,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -475971,6 +480923,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476013,6 +480971,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476091,6 +481055,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476181,6 +481151,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476193,6 +481169,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476211,6 +481193,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -476235,6 +481229,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476319,6 +481319,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476379,6 +481385,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476451,6 +481463,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476469,6 +481487,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + @@ -476535,6 +481571,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476553,6 +481595,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -476709,6 +481763,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476799,6 +481859,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476811,6 +481877,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476907,6 +481979,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -476919,6 +482003,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -476949,6 +482045,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -476973,6 +482081,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -476991,6 +482105,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -477003,6 +482129,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477081,12 +482213,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -477141,6 +482285,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477237,6 +482387,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477435,6 +482591,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -477477,6 +482645,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + @@ -477555,6 +482741,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477597,6 +482789,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -477621,6 +482825,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477669,6 +482879,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477687,6 +482903,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -477735,6 +482963,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477789,12 +483023,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -477825,6 +483071,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -477861,6 +483119,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477909,6 +483173,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -477957,6 +483227,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -478017,12 +483293,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -478161,6 +483449,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -478245,6 +483539,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -478371,6 +483671,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -478383,6 +483689,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -478431,12 +483743,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -478653,6 +483977,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -478665,6 +483995,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -478683,6 +484019,42 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -478881,6 +484253,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -478965,12 +484343,36 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + + + + + + + @@ -479217,12 +484619,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -479241,6 +484655,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -479253,6 +484679,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -479481,6 +484913,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -479553,6 +484991,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -479589,6 +485033,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + @@ -479769,6 +485231,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -479799,6 +485273,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -479823,6 +485309,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -479871,6 +485363,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -479883,6 +485381,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -479919,6 +485423,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -479937,18 +485447,42 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + + + + + + + @@ -479991,6 +485525,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480087,6 +485627,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480237,6 +485783,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480249,6 +485801,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480291,6 +485849,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480393,6 +485957,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480405,6 +485975,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480465,12 +486041,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -480507,6 +486095,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480531,6 +486125,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480579,6 +486179,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -480645,6 +486257,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480711,6 +486329,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + @@ -480729,18 +486365,36 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + @@ -480759,6 +486413,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480813,6 +486473,18 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + @@ -480879,6 +486551,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480939,6 +486617,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -480987,6 +486671,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -481029,6 +486719,24 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + + + + + + + + + + + + + @@ -481257,6 +486965,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -481329,6 +487043,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -481431,6 +487151,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -481467,6 +487193,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + + @@ -481485,6 +487217,12 @@ If the skeletal ages of individuals bones are different, i.e., different bones h + + + + + +