Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Gait disturbance (HP:0001288)help
..Starting node
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Broad-based gait (HP:0002136)help
Term ID: 2136
Name: Broad-based gait
Synonym: Broad based gait; Wide based gait; Wide based walk; Wide-based gait
Definition: An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Comments:
Reference: HP:0002136
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandCock-walk gait (HP:0031848) help
..expandDifficulty walking (HP:0002355) help
..expandDifficulty walking backward (HP:0031847) help
..expandFalls (HP:0002527) help
..expandFreezing of gait (HP:0031825) help
..expandGait apraxia (HP:0010521) help
..expandGait ataxia (HP:0002066) help
..expandGait imbalance (HP:0002141) help
..expandHobby horse gait (HP:0031856) help
..expandImpaired tandem gait (HP:0031629) help
..expandInability to walk (HP:0002540) help
..expandobsolete Toe walking (HP:0040083) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandTip-toe gait (HP:0030051) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) 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:0002136HP:0002136Broad-based gait0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0002136HP:0002136Broad-based gait0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal.88
HP:0002136HP:0002136Broad-based gait0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040283 - Occasional165
HP:0002136HP:0002136Broad-based gait0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0002136HP:0002136Broad-based gait0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0002136HP:0002136Broad-based gait0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
HP:0002136HP:0002136Broad-based gait0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0002136HP:0002136Broad-based gait0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndromeHP:0040284 - Very rare17
HP:0002136HP:0002136Broad-based gait0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002136HP:0002136Broad-based gait0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0002136HP:0002136Broad-based gait0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0002136HP:0002136Broad-based gait0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002136HP:0002136Broad-based gait0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0002136HP:0002136Broad-based gait0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0002136HP:0002136Broad-based gait0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0002136HP:0002136Broad-based gait0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0002136HP:0002136Broad-based gait0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0002136HP:0002136Broad-based gait0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002136HP:0002136Broad-based gait0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0002136HP:0002136Broad-based gait0COPB2 CL E G H92762232OMIM:619884
HP:0002136HP:0002136Broad-based gait0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002136HP:0002136Broad-based gait0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0002136HP:0002136Broad-based gait0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002136HP:0002136Broad-based gait0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0002136HP:0002136Broad-based gait0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0002136HP:0002136Broad-based gait0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040282 - Frequent33
HP:0002136HP:0002136Broad-based gait0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0002136HP:0002136Broad-based gait0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient.3
HP:0002136HP:0002136Broad-based gait0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0002136HP:0002136Broad-based gait0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002136HP:0002136Broad-based gait0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0002136HP:0002136Broad-based gait0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0002136HP:0002136Broad-based gait0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa.111
HP:0002136HP:0002136Broad-based gait0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0002136HP:0002136Broad-based gait0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040284 - Very rare160
HP:0002136HP:0002136Broad-based gait0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0002136HP:0002136Broad-based gait0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0002136HP:0002136Broad-based gait0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002136HP:0002136Broad-based gait0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0002136HP:0002136Broad-based gait0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitiveHP:0040283 - Occasional2
HP:0002136HP:0002136Broad-based gait0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0002136HP:0002136Broad-based gait0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0002136HP:0002136Broad-based gait0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0002136HP:0002136Broad-based gait0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0002136HP:0002136Broad-based gait0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040283 - Occasional35
HP:0002136HP:0002136Broad-based gait0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0002136HP:0002136Broad-based gait0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0002136HP:0002136Broad-based gait0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002136HP:0002136Broad-based gait0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040283 - Occasional950
HP:0002136HP:0002136Broad-based gait0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0002136HP:0002136Broad-based gait0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0002136HP:0002136Broad-based gait0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0002136HP:0002136Broad-based gait0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0002136HP:0002136Broad-based gait0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0002136HP:0002136Broad-based gait0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0002136HP:0002136Broad-based gait0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0002136HP:0002136Broad-based gait0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2HP:0040283 - Occasional470
HP:0002136HP:0002136Broad-based gait0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0002136HP:0002136Broad-based gait0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0002136HP:0002136Broad-based gait0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0002136HP:0002136Broad-based gait0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0002136HP:0002136Broad-based gait0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0002136HP:0002136Broad-based gait0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0002136HP:0002136Broad-based gait0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002136HP:0002136Broad-based gait0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0002136HP:0002136Broad-based gait0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002136HP:0002136Broad-based gait0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0002136HP:0002136Broad-based gait0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0002136HP:0002136Broad-based gait0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0002136HP:0002136Broad-based gait0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0002136HP:0002136Broad-based gait0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0002136HP:0002136Broad-based gait0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31HP:0040283 - Occasional53
HP:0002136HP:0002136Broad-based gait0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0002136HP:0002136Broad-based gait0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0002136HP:0002136Broad-based gait0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0002136HP:0002136Broad-based gait0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0002136HP:0002136Broad-based gait0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0002136HP:0002136Broad-based gait0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0002136HP:0002136Broad-based gait0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0002136HP:0002136Broad-based gait0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0002136HP:0002136Broad-based gait0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0002136HP:0002136Broad-based gait0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0002136HP:0002136Broad-based gait0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0002136HP:0002136Broad-based gait0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0002136HP:0002136Broad-based gait0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0002136HP:0002136Broad-based gait0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0002136HP:0002136Broad-based gait0SNRPN CL E G H663811164OMIM:105830Angelman syndromeHP:0040281 - Very frequent37
HP:0002136HP:0002136Broad-based gait0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional37
HP:0002136HP:0002136Broad-based gait0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040282 - Frequent14
HP:0002136HP:0002136Broad-based gait0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002136HP:0002136Broad-based gait0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0002136HP:0002136Broad-based gait0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0002136HP:0002136Broad-based gait0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002136HP:0002136Broad-based gait0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0002136HP:0002136Broad-based gait0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002136HP:0002136Broad-based gait0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16.
HP:0002136HP:0002136Broad-based gait0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002136HP:0002136Broad-based gait0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0002136HP:0002136Broad-based gait0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0002136HP:0002136Broad-based gait0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002136HP:0002136Broad-based gait0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0002136HP:0002136Broad-based gait0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0002136HP:0002136Broad-based gait0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0002136HP:0002136Broad-based gait0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002136HP:0002136Broad-based gait0UBE3A CL E G H733712496OMIM:105830Angelman syndromeHP:0040281 - Very frequent278
HP:0002136HP:0002136Broad-based gait0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0002136HP:0002136Broad-based gait0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional278
HP:0002136HP:0002136Broad-based gait0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0002136HP:0002136Broad-based gait0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040283 - Occasional278
HP:0002136HP:0002136Broad-based gait0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0002136HP:0002136Broad-based gait0UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduriaHP:0040281 - Very frequent8
HP:0002136HP:0002136Broad-based gait0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0002136HP:0002136Broad-based gait0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0002136HP:0002136Broad-based gait0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002136HP:0002136Broad-based gait0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0002136HP:0002136Broad-based gait0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0002136HP:0002136Broad-based gait0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0002136HP:0002136Broad-based gait0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56.
HP:0002136HP:0002136Broad-based gait0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0002136HP:0002136Broad-based gait0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0002136HP:0002136Broad-based gait0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5


Genes (106) :ACTL6B ADGRG1 AP5Z1 ATCAY ATP10A BCORL1 BICD2 CAD CAMTA1 CARS1 CCDC88C CDK10 CERT1 CHD3 CLTC COL9A2 COPB2 COQ2 CUL4B CWF19L1 DDX3X DEAF1 DLAT DNAJC12 DYRK1A EBF3 EGR2 EXT2 FLVCR1 FNIP1 GALC GBA1 GBA2 GNB2 GPT2 GTF2E2 GTPBP2 HACE1 HTT ITPR1 KCND3 KMT2A MAN1B1 MAP1B MECP2 MED12 MPV17 MPZ MTTP MYOT NBEA NKX2-1 NRXN1 NSUN2 OCA2 PACS2 PEX5 PIEZO2 PIGL PLP1 PMP22 POLG PPM1D PPP1R15B PRDM13 PRX PURA RAI1 RBM10 RLIM RNF113A RNU12 SATB2 SGCB SGCG SHANK3 SIM1 SLC6A8 SMS SNRPN SNX14 SPTBN1 SRCAP TBC1D23 TBP THRA TKFC TMEM106B TMEM222 TOP3A TPP1 TRAPPC6B TRIM2 TRMT10A TRPV4 TWNK UBE3A UROC1 VCP VLDLR WASF1 WDR26 XRCC4 YWHAG ZEB2 ZSWIM6

Diseases (112) :OMIM:618470 OMIM:606854 ORPHA:306511 OMIM:613647 OMIM:601238 ORPHA:94122 ORPHA:411515 OMIM:301029 OMIM:615290 OMIM:616457 OMIM:614756 OMIM:618891 OMIM:616053 ORPHA:423275 OMIM:617694 OMIM:616351 OMIM:618205 OMIM:617854 OMIM:600204 OMIM:619884 ORPHA:227510 ORPHA:85293 OMIM:616127 OMIM:300958 ORPHA:457260 ORPHA:468620 ORPHA:79244 OMIM:617384 ORPHA:268261 OMIM:617330 OMIM:145900 ORPHA:466926 OMIM:609033 OMIM:619705 ORPHA:206448 ORPHA:2072 ORPHA:320391 OMIM:619503 ORPHA:477673 OMIM:616943 OMIM:617988 OMIM:616756 ORPHA:248111 OMIM:117360 ORPHA:98772 OMIM:605130 ORPHA:397941 OMIM:618918 ORPHA:3077 ORPHA:93932 OMIM:256810 ORPHA:14 OMIM:182920 OMIM:619157 OMIM:610978 OMIM:614325 OMIM:611091 ORPHA:98794 OMIM:618067 OMIM:616716 OMIM:617146 OMIM:280000 OMIM:312080 OMIM:607459 OMIM:617450 ORPHA:391408 OMIM:619761 OMIM:614895 OMIM:616158 ORPHA:438216 ORPHA:477817 ORPHA:2886 OMIM:300978 OMIM:300953 ORPHA:512260 OMIM:612313 ORPHA:251028 ORPHA:119 ORPHA:353 OMIM:606232 ORPHA:171829 OMIM:300352 OMIM:309583 OMIM:105830 ORPHA:397709 OMIM:619475 ORPHA:2044 OMIM:617695 OMIM:607136 OMIM:614450 OMIM:618805 OMIM:617964 OMIM:619470 OMIM:618098 ORPHA:284324 OMIM:617862 OMIM:615490 OMIM:181405 ORPHA:411511 ORPHA:98795 OMIM:276880 ORPHA:210128 ORPHA:435387 OMIM:224050 OMIM:618707 ORPHA:513456 OMIM:617616 OMIM:616541 OMIM:617665 ORPHA:261552 ORPHA:261537 OMIM:617865
 

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