Human Phenotype Ontology 
Grandparent Node:
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Abnormal foot morphology (HP:0001760)help
Grandparent Node:
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Abnormal lower limb bone morphology (HP:0040069)help
Parent Node:
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Abnormality of the tarsal bones (HP:0001850)help
..Starting node
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Abnormal talus morphology (HP:0008365)help
Term ID: 8365
Name: Abnormal talus morphology
Synonym: Abnormal large bone of ankle
Definition: An abnormality of the talus.
Comments:
Reference: HP:0008365
Genes and Diseases:
 
       Child Nodes:
........expandTarsal osteovalgus (HP:0001775) help
........expandRocker bottom foot (HP:0001838) help
........expandOsteolysis of talus (HP:0008095) help
........expandShortening of the talar neck (HP:0008117) help
........expandDelayed talus ossification (HP:0011836) help

 Sister Nodes: 
..expandAbnormal tarsal bone mineral density (HP:0009132) help
..expandAbnormal tarsal ossification (HP:0008369) help
..expandAbnormality of the calcaneus (HP:0008364) help
..expandAbnormality of the os naviculare pedis (HP:0100339) help
..expandAplasia/Hypoplasia of the tarsal bones (HP:0008363) help
..expandDeformed tarsal bones (HP:0008119) help
..expandFlattening of the talar dome (HP:0008144) help
..expandIrregular tarsal bones (HP:0004688) help
..expandLarge tarsal bones (HP:0004679) help
..expandOsteolysis involving tarsal bones (HP:0006234) help
..expandTarsal synostosis (HP:0008368) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008365HP:0008365Abnormal talus morphology0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0008365HP:0008365Abnormal talus morphology0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0008365HP:0008365Abnormal talus morphology0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0008365HP:0008365Abnormal talus morphology0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0008365HP:0008365Abnormal talus morphology0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0008365HP:0008365Abnormal talus morphology0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0008365HP:0008365Abnormal talus morphology0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0008365HP:0008365Abnormal talus morphology0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0008365HP:0008365Abnormal talus morphology0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0008365HP:0008365Abnormal talus morphology0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0008365HP:0008365Abnormal talus morphology0DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0008365HP:0008365Abnormal talus morphology0DPH5 CL E G H5161124270OMIM:620070
HP:0008365HP:0008365Abnormal talus morphology0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0008365HP:0008365Abnormal talus morphology0EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome2
HP:0008365HP:0008365Abnormal talus morphology0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0008365HP:0008365Abnormal talus morphology0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0008365HP:0008365Abnormal talus morphology0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0008365HP:0008365Abnormal talus morphology0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0008365HP:0008365Abnormal talus morphology0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0008365HP:0008365Abnormal talus morphology0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0008365HP:0008365Abnormal talus morphology0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0008365HP:0008365Abnormal talus morphology0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0008365HP:0008365Abnormal talus morphology0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis175
HP:0008365HP:0008365Abnormal talus morphology0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0008365HP:0008365Abnormal talus morphology0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0008365HP:0008365Abnormal talus morphology0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0008365HP:0008365Abnormal talus morphology0H4C9 CL E G H82944793OMIM:619951
HP:0008365HP:0008365Abnormal talus morphology0HOXD10 CL E G H32365133OMIM:192950Vertical talus, congenital33
HP:0008365HP:0008365Abnormal talus morphology0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0008365HP:0008365Abnormal talus morphology0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts type10
HP:0008365HP:0008365Abnormal talus morphology0KIF14 CL E G H992819181OMIM:616258Meckel syndrome 129
HP:0008365HP:0008365Abnormal talus morphology0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0008365HP:0008365Abnormal talus morphology0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0008365HP:0008365Abnormal talus morphology0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0008365HP:0008365Abnormal talus morphology0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence72
HP:0008365HP:0008365Abnormal talus morphology0MYBPC1 CL E G H46047549OMIM:614335Arthrogryposis, distal, type 1B66
HP:0008365HP:0008365Abnormal talus morphology0MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 166
HP:0008365HP:0008365Abnormal talus morphology0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0008365HP:0008365Abnormal talus morphology0MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1166
HP:0008365HP:0008365Abnormal talus morphology0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0008365HP:0008365Abnormal talus morphology0NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 148
HP:0008365HP:0008365Abnormal talus morphology0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts type96
HP:0008365HP:0008365Abnormal talus morphology0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0008365HP:0008365Abnormal talus morphology0NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4
HP:0008365HP:0008365Abnormal talus morphology0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0008365HP:0008365Abnormal talus morphology0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008365HP:0008365Abnormal talus morphology0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0008365HP:0008365Abnormal talus morphology0PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant217
HP:0008365HP:0008365Abnormal talus morphology0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemia217
HP:0008365HP:0008365Abnormal talus morphology0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0008365HP:0008365Abnormal talus morphology0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0008365HP:0008365Abnormal talus morphology0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0008365HP:0008365Abnormal talus morphology0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis76
HP:0008365HP:0008365Abnormal talus morphology0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis76
HP:0008365HP:0008365Abnormal talus morphology0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0008365HP:0008365Abnormal talus morphology0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 227
HP:0008365HP:0008365Abnormal talus morphology0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0008365HP:0008365Abnormal talus morphology0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0008365HP:0008365Abnormal talus morphology0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts type334
HP:0008365HP:0008365Abnormal talus morphology0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0008365HP:0008365Abnormal talus morphology0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0008365HP:0008365Abnormal talus morphology0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0008365HP:0008365Abnormal talus morphology0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0008365HP:0008365Abnormal talus morphology0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0008365HP:0008365Abnormal talus morphology0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0008365HP:0008365Abnormal talus morphology0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0008365HP:0008365Abnormal talus morphology0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0008365HP:0008365Abnormal talus morphology0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B37
HP:0008365HP:0008365Abnormal talus morphology0TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 137
HP:0008365HP:0008365Abnormal talus morphology0TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 143
HP:0008365HP:0008365Abnormal talus morphology0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0008365HP:0008365Abnormal talus morphology0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A54
HP:0008365HP:0008365Abnormal talus morphology0TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 154
HP:0008365HP:0008365Abnormal talus morphology0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0008365HP:0008365Abnormal talus morphology0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0008365HP:0008365Abnormal talus morphology0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0008365HP:0008365Abnormal talus morphology0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0008365HP:0041164Fractured talus1 CL E G H
HP:0008365HP:0011836Delayed talus ossification1 CL E G H
HP:0008365HP:0008095Osteolysis of talus1 CL E G H
HP:0008365HP:0001838Rocker bottom foot1AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0008365HP:0001838Rocker bottom foot1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0008365HP:0001838Rocker bottom foot1ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040283 - Occasional219
HP:0008365HP:0001838Rocker bottom foot1ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0008365HP:0001838Rocker bottom foot1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0008365HP:0001838Rocker bottom foot1CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040281 - Very frequent5
HP:0008365HP:0001838Rocker bottom foot1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0008365HP:0001838Rocker bottom foot1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0008365HP:0001838Rocker bottom foot1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0008365HP:0001838Rocker bottom foot1CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040281 - Very frequent127
HP:0008365HP:0001838Rocker bottom foot1DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0008365HP:0001838Rocker bottom foot1DPH5 CL E G H5161124270OMIM:620070
HP:0008365HP:0001838Rocker bottom foot1EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome.2
HP:0008365HP:0001838Rocker bottom foot1EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040282 - Frequent2
HP:0008365HP:0033977Talar aplasia1EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0008365HP:0001775Tarsal osteovalgus1EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0008365HP:0001838Rocker bottom foot1ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0008365HP:0001838Rocker bottom foot1ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0008365HP:0001838Rocker bottom foot1ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3.83
HP:0008365HP:0001838Rocker bottom foot1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0008365HP:0001838Rocker bottom foot1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0008365HP:0001838Rocker bottom foot1EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0008365HP:0001838Rocker bottom foot1FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0008365HP:0001838Rocker bottom foot1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0008365HP:0001838Rocker bottom foot1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0008365HP:0001838Rocker bottom foot1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0008365HP:0001838Rocker bottom foot1H4C9 CL E G H82944793OMIM:619951
HP:0008365HP:0001838Rocker bottom foot1HOXD10 CL E G H32365133OMIM:192950Vertical talus, congenital.33
HP:0008365HP:0001838Rocker bottom foot1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0008365HP:0001838Rocker bottom foot1KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional10
HP:0008365HP:0001838Rocker bottom foot1KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12.9
HP:0008365HP:0001838Rocker bottom foot1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0008365HP:0001838Rocker bottom foot1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0008365HP:0001838Rocker bottom foot1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0008365HP:0001838Rocker bottom foot1MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0008365HP:0001838Rocker bottom foot1MYBPC1 CL E G H46047549OMIM:614335Arthrogryposis, distal, type 1B66
HP:0008365HP:0001838Rocker bottom foot1MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 1HP:0040283 - Occasional66
HP:0008365HP:0001838Rocker bottom foot1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0008365HP:0001838Rocker bottom foot1MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1HP:0040283 - Occasional166
HP:0008365HP:0001838Rocker bottom foot1MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0008365HP:0001838Rocker bottom foot1NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 1HP:0040283 - Occasional48
HP:0008365HP:0001838Rocker bottom foot1NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional96
HP:0008365HP:0001838Rocker bottom foot1NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0008365HP:0001838Rocker bottom foot1NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4.
HP:0008365HP:0001838Rocker bottom foot1OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040281 - Very frequent143
HP:0008365HP:0001838Rocker bottom foot1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008365HP:0001838Rocker bottom foot1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0008365HP:0008117Shortening of the talar neck1PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant.217
HP:0008365HP:0008117Shortening of the talar neck1PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040282 - Frequent217
HP:0008365HP:0001838Rocker bottom foot1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0008365HP:0001838Rocker bottom foot1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0008365HP:0001838Rocker bottom foot1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0008365HP:0001838Rocker bottom foot1POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0008365HP:0001838Rocker bottom foot1POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0008365HP:0001838Rocker bottom foot1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0008365HP:0001838Rocker bottom foot1PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0008365HP:0001838Rocker bottom foot1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0008365HP:0001838Rocker bottom foot1RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0008365HP:0001838Rocker bottom foot1RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional334
HP:0008365HP:0001838Rocker bottom foot1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0008365HP:0001838Rocker bottom foot1SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0008365HP:0001838Rocker bottom foot1SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0008365HP:0001838Rocker bottom foot1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0008365HP:0001838Rocker bottom foot1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0008365HP:0001838Rocker bottom foot1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0008365HP:0001838Rocker bottom foot1SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0008365HP:0001838Rocker bottom foot1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0008365HP:0001838Rocker bottom foot1TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0008365HP:0001838Rocker bottom foot1TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 1HP:0040283 - Occasional37
HP:0008365HP:0001838Rocker bottom foot1TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 1HP:0040283 - Occasional43
HP:0008365HP:0001838Rocker bottom foot1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0008365HP:0001838Rocker bottom foot1TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0008365HP:0001838Rocker bottom foot1TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 1HP:0040283 - Occasional54
HP:0008365HP:0001838Rocker bottom foot1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0008365HP:0001838Rocker bottom foot1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0008365HP:0001838Rocker bottom foot1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0008365HP:0001838Rocker bottom foot1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83


Genes (67) :AARS1 ADAT3 ARID1B ATPAF2 BAP1 CCDC8 CHRNG CLTCL1 COL25A1 CUL7 DOK7 DPH5 EMG1 EN1 EPB41L1 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 EXOC7 FGFR2 FIG4 FLNA GLE1 H4C9 HOXD10 IPO8 KATNB1 KIF14 LMNA MAF MAGEL2 MUSK MYBPC1 MYH3 MYL11 NALCN NDE1 NUP188 NUP88 OBSL1 OTUD5 PEX1 PHEX PHGDH PLAA POR PSAT1 PUF60 RBM10 RELN RSPRY1 SAMD9 SCYL2 SLC29A3 SLC2A10 SMPD4 TELO2 TNNI2 TNNT3 TOR1A TPM2 VAC14 WRN ZC4H2 ZMPSTE24

Diseases (64) :OMIM:616339 ORPHA:363528 ORPHA:251056 OMIM:604273 OMIM:619762 ORPHA:2616 OMIM:265000 ORPHA:453510 ORPHA:1143 OMIM:618389 OMIM:620070 ORPHA:1270 OMIM:211180 OMIM:619218 OMIM:614257 OMIM:610758 OMIM:610756 OMIM:616570 OMIM:214150 OMIM:619072 OMIM:207410 ORPHA:3472 OMIM:304120 OMIM:611890 OMIM:619951 OMIM:192950 OMIM:619472 ORPHA:89844 OMIM:616258 ORPHA:79474 ORPHA:1272 OMIM:615547 OMIM:208150 OMIM:614335 ORPHA:1146 OMIM:193700 OMIM:619110 OMIM:618804 OMIM:618393 OMIM:301056 OMIM:214100 OMIM:307800 ORPHA:89936 OMIM:256520 OMIM:617527 ORPHA:521426 OMIM:201750 ORPHA:95699 OMIM:616038 ORPHA:508488 ORPHA:2886 ORPHA:457395 OMIM:617053 OMIM:618766 OMIM:602782 ORPHA:3342 OMIM:618622 ORPHA:488642 OMIM:601680 OMIM:618947 OMIM:108120 ORPHA:902 OMIM:301041 OMIM:275210
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.