Human Phenotype Ontology 
Grandparent Node:
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Abnormal foot morphology (HP:0001760)help
Parent Node:
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Positional foot deformity (HP:0005656)help
..Starting node
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Talipes (HP:0001883)help
Term ID: 1883
Name: Talipes
Synonym: Talipes foot deformities
Definition: A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Comments:
Reference: HP:0001883
Genes and Diseases:
 
       Child Nodes:
........expandTalipes equinovarus (HP:0001762) help
................... HP:0001776 Bilateral talipes equinovarus
................... HP:0004696 Talipes cavus equinovarus
........expandTalipes equinovalgus (HP:0001772) help
........expandTalipes calcaneovalgus (HP:0001884) help
................... HP:0005850 Congenital talipes calcaneovalgus
........expandTalipes calcaneovarus (HP:0008124) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001883HP:0001883Talipes0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001883HP:0001883Talipes0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0001883HP:0001883Talipes0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0001883HP:0001883Talipes0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 95
HP:0001883HP:0001883Talipes0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001883HP:0001883Talipes0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 389
HP:0001883HP:0001883Talipes0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0001883HP:0001883Talipes0ALDH1A2 CL E G H885415472OMIM:620025
HP:0001883HP:0001883Talipes0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0001883HP:0001883Talipes0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0001883HP:0001883Talipes0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0001883HP:0001883Talipes0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0001883HP:0001883Talipes0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0001883HP:0001883Talipes0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0001883HP:0001883Talipes0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0001883HP:0001883Talipes0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0001883HP:0001883Talipes0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0001883HP:0001883Talipes0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0001883HP:0001883Talipes0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive49
HP:0001883HP:0001883Talipes0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0001883HP:0001883Talipes0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0001883HP:0001883Talipes0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0001883HP:0001883Talipes0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0001883HP:0001883Talipes0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent147
HP:0001883HP:0001883Talipes0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0001883HP:0001883Talipes0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 661
HP:0001883HP:0001883Talipes0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0001883HP:0001883Talipes0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4
HP:0001883HP:0001883Talipes0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0001883HP:0001883Talipes0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0001883HP:0001883Talipes0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0001883HP:0001883Talipes0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC2
HP:0001883HP:0001883Talipes0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0001883HP:0001883Talipes0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0001883HP:0001883Talipes0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0001883HP:0001883Talipes0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0001883HP:0001883Talipes0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0001883HP:0001883Talipes0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0001883HP:0001883Talipes0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 238
HP:0001883HP:0001883Talipes0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0001883HP:0001883Talipes0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0001883HP:0001883Talipes0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001883HP:0001883Talipes0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0001883HP:0001883Talipes0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0001883HP:0001883Talipes0B9D1 CL E G H2707724123OMIM:614209Meckel syndrome, type 928
HP:0001883HP:0001883Talipes0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0001883HP:0001883Talipes0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001883HP:0001883Talipes0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001883HP:0001883Talipes0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0001883HP:0001883Talipes0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0001883HP:0001883Talipes0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0001883HP:0001883Talipes0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0001883HP:0001883Talipes0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome
HP:0001883HP:0001883Talipes0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0001883HP:0001883Talipes0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0001883HP:0001883Talipes0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0001883HP:0001883Talipes0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0001883HP:0001883Talipes0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis10
HP:0001883HP:0001883Talipes0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome13
HP:0001883HP:0001883Talipes0CACNA1C CL E G H7751390OMIM:620029572
HP:0001883HP:0001883Talipes0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0001883HP:0001883Talipes0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0001883HP:0001883Talipes0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0001883HP:0001883Talipes0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0001883HP:0001883Talipes0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0001883HP:0001883Talipes0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0001883HP:0001883Talipes0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0001883HP:0001883Talipes0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0001883HP:0001883Talipes0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0001883HP:0001883Talipes0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001883HP:0001883Talipes0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0001883HP:0001883Talipes0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0001883HP:0001883Talipes0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome4
HP:0001883HP:0001883Talipes0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndrome4
HP:0001883HP:0001883Talipes0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0001883HP:0001883Talipes0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0001883HP:0001883Talipes0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001883HP:0001883Talipes0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0001883HP:0001883Talipes0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001883HP:0001883Talipes0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0001883HP:0001883Talipes0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0001883HP:0001883Talipes0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001883HP:0001883Talipes0COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson type67
HP:0001883HP:0001883Talipes0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome67
HP:0001883HP:0001883Talipes0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001883HP:0001883Talipes0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0001883HP:0001883Talipes0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0001883HP:0001883Talipes0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0001883HP:0001883Talipes0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0001883HP:0001883Talipes0COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndromeHP:0040283 - Occasional284
HP:0001883HP:0001883Talipes0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001883HP:0001883Talipes0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0001883HP:0001883Talipes0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0001883HP:0001883Talipes0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0001883HP:0001883Talipes0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0001883HP:0001883Talipes0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0001883HP:0001883Talipes0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0001883HP:0001883Talipes0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0001883HP:0001883Talipes0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0001883HP:0001883Talipes0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0001883HP:0001883Talipes0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0001883HP:0001883Talipes0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0001883HP:0001883Talipes0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001883HP:0001883Talipes0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0001883HP:0001883Talipes0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001883HP:0001883Talipes0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0001883HP:0001883Talipes0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0001883HP:0001883Talipes0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0001883HP:0001883Talipes0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001883HP:0001883Talipes0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001883HP:0001883Talipes0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0001883HP:0001883Talipes0CTH CL E G H14912501ORPHA:212Cystathioninuria38
HP:0001883HP:0001883Talipes0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0001883HP:0001883Talipes0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0001883HP:0001883Talipes0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0001883HP:0001883Talipes0DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type263
HP:0001883HP:0001883Talipes0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0001883HP:0001883Talipes0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0001883HP:0001883Talipes0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0001883HP:0001883Talipes0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0001883HP:0001883Talipes0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040283 - Occasional72
HP:0001883HP:0001883Talipes0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0001883HP:0001883Talipes0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001883HP:0001883Talipes0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001883HP:0001883Talipes0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent9
HP:0001883HP:0001883Talipes0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0001883HP:0001883Talipes0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent18
HP:0001883HP:0001883Talipes0DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0001883HP:0001883Talipes0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome9
HP:0001883HP:0001883Talipes0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria44
HP:0001883HP:0001883Talipes0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 213
HP:0001883HP:0001883Talipes0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0001883HP:0001883Talipes0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0001883HP:0001883Talipes0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O427
HP:0001883HP:0001883Talipes0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0001883HP:0001883Talipes0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0001883HP:0001883Talipes0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001883HP:0001883Talipes0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D37
HP:0001883HP:0001883Talipes0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0001883HP:0001883Talipes0EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0001883HP:0001883Talipes0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0001883HP:0001883Talipes0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0001883HP:0001883Talipes0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndrome8
HP:0001883HP:0001883Talipes0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0001883HP:0001883Talipes0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001883HP:0001883Talipes0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0001883HP:0001883Talipes0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent4
HP:0001883HP:0001883Talipes0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001883HP:0001883Talipes0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0001883HP:0001883Talipes0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040283 - Occasional20
HP:0001883HP:0001883Talipes0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040283 - Occasional106
HP:0001883HP:0001883Talipes0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0001883HP:0001883Talipes0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040283 - Occasional83
HP:0001883HP:0001883Talipes0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040283 - Occasional199
HP:0001883HP:0001883Talipes0ERGIC1 CL E G H5722229205OMIM:208100Arthrogryposis multiplex congenita, Neurogenic type
HP:0001883HP:0001883Talipes0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0001883HP:0001883Talipes0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0001883HP:0001883Talipes0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0001883HP:0001883Talipes0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0001883HP:0001883Talipes0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0001883HP:0001883Talipes0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0001883HP:0001883Talipes0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional96
HP:0001883HP:0001883Talipes0EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0001883HP:0001883Talipes0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0001883HP:0001883Talipes0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0001883HP:0001883Talipes0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0001883HP:0001883Talipes0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0001883HP:0001883Talipes0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001883HP:0001883Talipes0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0001883HP:0001883Talipes0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0001883HP:0001883Talipes0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0001883HP:0001883Talipes0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset36
HP:0001883HP:0001883Talipes0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0001883HP:0001883Talipes0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0001883HP:0001883Talipes0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0001883HP:0001883Talipes0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001883HP:0001883Talipes0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome2
HP:0001883HP:0001883Talipes0FKBP10 CL E G H6068118169ORPHA:2771Bruck syndrome61
HP:0001883HP:0001883Talipes0FKBP10 CL E G H6068118169OMIM:259450Bruck syndrome 161
HP:0001883HP:0001883Talipes0FKBP10 CL E G H6068118169ORPHA:1149Kuskokwim syndromeHP:0040282 - Frequent61
HP:0001883HP:0001883Talipes0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0001883HP:0001883Talipes0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4184
HP:0001883HP:0001883Talipes0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0001883HP:0001883Talipes0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0001883HP:0001883Talipes0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type I233
HP:0001883HP:0001883Talipes0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type III233
HP:0001883HP:0001883Talipes0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0001883HP:0001883Talipes0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0001883HP:0001883Talipes0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0001883HP:0001883Talipes0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0001883HP:0001883Talipes0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0001883HP:0001883Talipes0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0001883HP:0001883Talipes0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001883HP:0001883Talipes0GAN CL E G H81394137ORPHA:643Giant axonal neuropathy121
HP:0001883HP:0001883Talipes0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0001883HP:0001883Talipes0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0001883HP:0001883Talipes0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001883HP:0001883Talipes0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0001883HP:0001883Talipes0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001883HP:0001883Talipes0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K108
HP:0001883HP:0001883Talipes0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A108
HP:0001883HP:0001883Talipes0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0001883HP:0001883Talipes0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0001883HP:0001883Talipes0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0001883HP:0001883Talipes0GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0001883HP:0001883Talipes0GDF5 CL E G H82004220OMIM:610017Multiple synostoses syndrome 252
HP:0001883HP:0001883Talipes0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001883HP:0001883Talipes0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001883HP:0001883Talipes0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0001883HP:0001883Talipes0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0001883HP:0001883Talipes0GLI3 CL E G H27374319ORPHA:93322Tibial hemimelia270
HP:0001883HP:0001883Talipes0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0001883HP:0001883Talipes0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0001883HP:0001883Talipes0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0001883HP:0001883Talipes0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0001883HP:0001883Talipes0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0001883HP:0001883Talipes0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001883HP:0001883Talipes0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0001883HP:0001883Talipes0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001883HP:0001883Talipes0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0001883HP:0001883Talipes0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001883HP:0001883Talipes0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities3
HP:0001883HP:0001883Talipes0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001883HP:0001883Talipes0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0001883HP:0001883Talipes0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia
HP:0001883HP:0001883Talipes0H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0001883HP:0001883Talipes0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1.2
HP:0001883HP:0001883Talipes0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0001883HP:0001883Talipes0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0001883HP:0001883Talipes0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16200
HP:0001883HP:0001883Talipes0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 1688
HP:0001883HP:0001883Talipes0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0001883HP:0001883Talipes0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0001883HP:0001883Talipes0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0001883HP:0001883Talipes0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0001883HP:0001883Talipes0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0001883HP:0001883Talipes0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0001883HP:0001883Talipes0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0001883HP:0001883Talipes0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0001883HP:0001883Talipes0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F47
HP:0001883HP:0001883Talipes0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0001883HP:0001883Talipes0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0001883HP:0001883Talipes0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0001883HP:0001883Talipes0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0001883HP:0001883Talipes0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0001883HP:0001883Talipes0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0001883HP:0001883Talipes0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2S209
HP:0001883HP:0001883Talipes0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0001883HP:0001883Talipes0IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0001883HP:0001883Talipes0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001883HP:0001883Talipes0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0001883HP:0001883Talipes0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001883HP:0001883Talipes0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lip99
HP:0001883HP:0001883Talipes0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0001883HP:0001883Talipes0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0001883HP:0001883Talipes0ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 14
HP:0001883HP:0001883Talipes0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0001883HP:0001883Talipes0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K1
HP:0001883HP:0001883Talipes0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0001883HP:0001883Talipes0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndrome141
HP:0001883HP:0001883Talipes0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001883HP:0001883Talipes0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0001883HP:0001883Talipes0KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0001883HP:0001883Talipes0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9276
HP:0001883HP:0001883Talipes0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0001883HP:0001883Talipes0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0001883HP:0001883Talipes0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0001883HP:0001883Talipes0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0001883HP:0001883Talipes0L1CAM CL E G H38976470OMIM:303350MASA syndrome134
HP:0001883HP:0001883Talipes0LAMA5 CL E G H39116485OMIM:6200765
HP:0001883HP:0001883Talipes0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0001883HP:0001883Talipes0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0001883HP:0001883Talipes0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001883HP:0001883Talipes0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001883HP:0001883Talipes0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect6
HP:0001883HP:0001883Talipes0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0001883HP:0001883Talipes0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0001883HP:0001883Talipes0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0001883HP:0001883Talipes0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040282 - Frequent106
HP:0001883HP:0001883Talipes0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0001883HP:0001883Talipes0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040283 - Occasional645
HP:0001883HP:0001883Talipes0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0001883HP:0001883Talipes0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0001883HP:0001883Talipes0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0001883HP:0001883Talipes0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0001883HP:0001883Talipes0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0001883HP:0001883Talipes0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0001883HP:0001883Talipes0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0001883HP:0001883Talipes0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001883HP:0001883Talipes0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0001883HP:0001883Talipes0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0001883HP:0001883Talipes0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001883HP:0001883Talipes0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0001883HP:0001883Talipes0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0001883HP:0001883Talipes0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0001883HP:0001883Talipes0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndrome13
HP:0001883HP:0001883Talipes0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0001883HP:0001883Talipes0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0001883HP:0001883Talipes0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0001883HP:0001883Talipes0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0001883HP:0001883Talipes0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0001883HP:0001883Talipes0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lip12
HP:0001883HP:0001883Talipes0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0001883HP:0001883Talipes0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0001883HP:0001883Talipes0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0001883HP:0001883Talipes0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0001883HP:0001883Talipes0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence72
HP:0001883HP:0001883Talipes0MYBPC1 CL E G H46047549OMIM:614335Arthrogryposis, distal, type 1B66
HP:0001883HP:0001883Talipes0MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent66
HP:0001883HP:0001883Talipes0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0001883HP:0001883Talipes0MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3166
HP:0001883HP:0001883Talipes0MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0001883HP:0001883Talipes0MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent166
HP:0001883HP:0001883Talipes0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndrome166
HP:0001883HP:0001883Talipes0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0001883HP:0001883Talipes0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 793
HP:0001883HP:0001883Talipes0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001883HP:0001883Talipes0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0001883HP:0001883Talipes0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0001883HP:0001883Talipes0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0001883HP:0001883Talipes0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0001883HP:0001883Talipes0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic
HP:0001883HP:0001883Talipes0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive217
HP:0001883HP:0001883Talipes0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0001883HP:0001883Talipes0NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001883HP:0001883Talipes0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0001883HP:0001883Talipes0NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent48
HP:0001883HP:0001883Talipes0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndrome48
HP:0001883HP:0001883Talipes0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0001883HP:0001883Talipes0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0001883HP:0001883Talipes0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D82
HP:0001883HP:0001883Talipes0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0001883HP:0001883Talipes0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lip4
HP:0001883HP:0001883Talipes0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0001883HP:0001883Talipes0NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 243
HP:0001883HP:0001883Talipes0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0001883HP:0001883Talipes0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0001883HP:0001883Talipes0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0001883HP:0001883Talipes0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001883HP:0001883Talipes0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0001883HP:0001883Talipes0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent452
HP:0001883HP:0001883Talipes0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0001883HP:0001883Talipes0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0001883HP:0001883Talipes0NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0001883HP:0001883Talipes0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001883HP:0001883Talipes0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0001883HP:0001883Talipes0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive15
HP:0001883HP:0001883Talipes0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0001883HP:0001883Talipes0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0001883HP:0001883Talipes0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0001883HP:0001883Talipes0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001883HP:0001883Talipes0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0001883HP:0001883Talipes0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0001883HP:0001883Talipes0PAICS CL E G H106068587OMIM:619859
HP:0001883HP:0001883Talipes0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0001883HP:0001883Talipes0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0001883HP:0001883Talipes0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger)82
HP:0001883HP:0001883Talipes0PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger)106
HP:0001883HP:0001883Talipes0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0001883HP:0001883Talipes0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0001883HP:0001883Talipes0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001883HP:0001883Talipes0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0001883HP:0001883Talipes0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 377
HP:0001883HP:0001883Talipes0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 577
HP:0001883HP:0001883Talipes0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0001883HP:0001883Talipes0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome77
HP:0001883HP:0001883Talipes0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040281 - Very frequent77
HP:0001883HP:0001883Talipes0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040283 - Occasional77
HP:0001883HP:0001883Talipes0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome77
HP:0001883HP:0001883Talipes0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001883HP:0001883Talipes0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0001883HP:0001883Talipes0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001883HP:0001883Talipes0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0001883HP:0001883Talipes0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4186
HP:0001883HP:0001883Talipes0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0001883HP:0001883Talipes0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0001883HP:0001883Talipes0PLOD2 CL E G H53529082ORPHA:2771Bruck syndrome45
HP:0001883HP:0001883Talipes0PLOD2 CL E G H53529082OMIM:609220Bruck syndrome 245
HP:0001883HP:0001883Talipes0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0001883HP:0001883Talipes0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0001883HP:0001883Talipes0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness79
HP:0001883HP:0001883Talipes0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0001883HP:0001883Talipes0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0001883HP:0001883Talipes0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0001883HP:0001883Talipes0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001883HP:0001883Talipes0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001883HP:0001883Talipes0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0001883HP:0001883Talipes0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0001883HP:0001883Talipes0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0001883HP:0001883Talipes0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001883HP:0001883Talipes0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0001883HP:0001883Talipes0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040283 - Occasional948
HP:0001883HP:0001883Talipes0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0001883HP:0001883Talipes0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset6
HP:0001883HP:0001883Talipes0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0001883HP:0001883Talipes0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0001883HP:0001883Talipes0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0001883HP:0001883Talipes0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndrome31
HP:0001883HP:0001883Talipes0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0001883HP:0001883Talipes0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0001883HP:0001883Talipes0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0001883HP:0001883Talipes0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0001883HP:0001883Talipes0RBM10 CL E G H82419896OMIM:311900Tarp syndrome16
HP:0001883HP:0001883Talipes0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001883HP:0001883Talipes0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent3
HP:0001883HP:0001883Talipes0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001883HP:0001883Talipes0REEP1 CL E G H6505525786OMIM:62001187
HP:0001883HP:0001883Talipes0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0001883HP:0001883Talipes0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0001883HP:0001883Talipes0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0001883HP:0001883Talipes0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001883HP:0001883Talipes0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0001883HP:0001883Talipes0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0001883HP:0001883Talipes0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0001883HP:0001883Talipes0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0001883HP:0001883Talipes0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0001883HP:0001883Talipes0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0001883HP:0001883Talipes0RYR1 CL E G H626110483ORPHA:597Central core disease1200
HP:0001883HP:0001883Talipes0RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0001883HP:0001883Talipes0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0001883HP:0001883Talipes0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0001883HP:0001883Talipes0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0001883HP:0001883Talipes0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0001883HP:0001883Talipes0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0001883HP:0001883Talipes0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0001883HP:0001883Talipes0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0001883HP:0001883Talipes0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0001883HP:0001883Talipes0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2180
HP:0001883HP:0001883Talipes0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0001883HP:0001883Talipes0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001883HP:0001883Talipes0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0001883HP:0001883Talipes0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0001883HP:0001883Talipes0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 215
HP:0001883HP:0001883Talipes0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0001883HP:0001883Talipes0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001883HP:0001883Talipes0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0001883HP:0001883Talipes0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0001883HP:0001883Talipes0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0001883HP:0001883Talipes0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0001883HP:0001883Talipes0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0001883HP:0001883Talipes0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez type49
HP:0001883HP:0001883Talipes0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001883HP:0001883Talipes0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0001883HP:0001883Talipes0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos type42
HP:0001883HP:0001883Talipes0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0001883HP:0001883Talipes0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)36
HP:0001883HP:0001883Talipes0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1B166
HP:0001883HP:0001883Talipes0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0001883HP:0001883Talipes0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0001883HP:0001883Talipes0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0001883HP:0001883Talipes0SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4166
HP:0001883HP:0001883Talipes0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0001883HP:0001883Talipes0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0001883HP:0001883Talipes0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0001883HP:0001883Talipes0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0001883HP:0001883Talipes0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001883HP:0001883Talipes0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0001883HP:0001883Talipes0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0001883HP:0001883Talipes0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0001883HP:0001883Talipes0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001883HP:0001883Talipes0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0001883HP:0001883Talipes0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0001883HP:0001883Talipes0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0001883HP:0001883Talipes0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0001883HP:0001883Talipes0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0001883HP:0001883Talipes0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0001883HP:0001883Talipes0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0001883HP:0001883Talipes0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0001883HP:0001883Talipes0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0001883HP:0001883Talipes0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0001883HP:0001883Talipes0SPECC1L CL E G H2338429022OMIM:600251Facial clefting, oblique, 16
HP:0001883HP:0001883Talipes0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0001883HP:0001883Talipes0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001883HP:0001883Talipes0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0001883HP:0001883Talipes0STAC3 CL E G H24632928423ORPHA:168572Native American myopathy14
HP:0001883HP:0001883Talipes0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndrome237
HP:0001883HP:0001883Talipes0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0001883HP:0001883Talipes0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0001883HP:0001883Talipes0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001883HP:0001883Talipes0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0001883HP:0001883Talipes0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001883HP:0001883Talipes0TAF8 CL E G H12968517300OMIM:619972
HP:0001883HP:0001883Talipes0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0001883HP:0001883Talipes0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11
HP:0001883HP:0001883Talipes0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0001883HP:0001883Talipes0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome32
HP:0001883HP:0001883Talipes0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0001883HP:0001883Talipes0TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplication55
HP:0001883HP:0001883Talipes0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0001883HP:0001883Talipes0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 2476
HP:0001883HP:0001883Talipes0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0001883HP:0001883Talipes0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0001883HP:0001883Talipes0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0001883HP:0001883Talipes0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0001883HP:0001883Talipes0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001883HP:0001883Talipes0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0001883HP:0001883Talipes0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001883HP:0001883Talipes0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001883HP:0001883Talipes0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0001883HP:0001883Talipes0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001883HP:0001883Talipes0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0001883HP:0001883Talipes0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0001883HP:0001883Talipes0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0001883HP:0001883Talipes0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0001883HP:0001883Talipes0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0001883HP:0001883Talipes0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0001883HP:0001883Talipes0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0001883HP:0001883Talipes0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0001883HP:0001883Talipes0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B37
HP:0001883HP:0001883Talipes0TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent37
HP:0001883HP:0001883Talipes0TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B243
HP:0001883HP:0001883Talipes0TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent43
HP:0001883HP:0001883Talipes0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001883HP:0001883Talipes0TP63 CL E G H862615979ORPHA:199302Isolated cleft lip140
HP:0001883HP:0001883Talipes0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A54
HP:0001883HP:0001883Talipes0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0001883HP:0001883Talipes0TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent54
HP:0001883HP:0001883Talipes0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0001883HP:0001883Talipes0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0001883HP:0001883Talipes0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R3
HP:0001883HP:0001883Talipes0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0001883HP:0001883Talipes0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional171
HP:0001883HP:0001883Talipes0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0001883HP:0001883Talipes0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0001883HP:0001883Talipes0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0001883HP:0001883Talipes0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0001883HP:0001883Talipes0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0001883HP:0001883Talipes0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0001883HP:0001883Talipes0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0001883HP:0001883Talipes0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0001883HP:0001883Talipes0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001883HP:0001883Talipes0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0001883HP:0001883Talipes0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0001883HP:0001883Talipes0USP8 CL E G H910112631ORPHA:401795Autosomal recessive spastic paraplegia type 597
HP:0001883HP:0001883Talipes0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0001883HP:0001883Talipes0VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele111
HP:0001883HP:0001883Talipes0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 227
HP:0001883HP:0001883Talipes0VPS33B CL E G H2627612712OMIM:62000963
HP:0001883HP:0001883Talipes0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 163
HP:0001883HP:0001883Talipes0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0001883HP:0001883Talipes0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001883HP:0001883Talipes0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0001883HP:0001883Talipes0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0001883HP:0001883Talipes0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040283 - Occasional13
HP:0001883HP:0001883Talipes0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0001883HP:0001883Talipes0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0001883HP:0001883Talipes0ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant52
HP:0001883HP:0001883Talipes0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0001883HP:0001883Talipes0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0001883HP:0001883Talipes0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001883HP:0001883Talipes0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis5
HP:0001883HP:0001883Talipes0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasia5
HP:0001883HP:0001762Talipes equinovarus1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001883HP:0001772Talipes equinovalgus1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001883HP:0001762Talipes equinovarus1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0001883HP:0001762Talipes equinovarus1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0001883HP:0001762Talipes equinovarus1ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0001883HP:0001762Talipes equinovarus1ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001883HP:0001884Talipes calcaneovalgus1ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001883HP:0001762Talipes equinovarus1ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3HP:0040283 - Occasional89
HP:0001883HP:0001762Talipes equinovarus1ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001883HP:0001762Talipes equinovarus1ALDH1A2 CL E G H885415472OMIM:620025
HP:0001883HP:0001762Talipes equinovarus1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001883HP:0001762Talipes equinovarus1ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0001883HP:0001762Talipes equinovarus1ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0001883HP:0001762Talipes equinovarus1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001883HP:0001762Talipes equinovarus1ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0001883HP:0001762Talipes equinovarus1ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0001883HP:0001762Talipes equinovarus1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0001883HP:0001762Talipes equinovarus1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0001883HP:0001762Talipes equinovarus1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0001883HP:0001762Talipes equinovarus1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0001883HP:0001762Talipes equinovarus1AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessiveHP:0040283 - Occasional49
HP:0001883HP:0001762Talipes equinovarus1AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0001883HP:0001762Talipes equinovarus1AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0001883HP:0001762Talipes equinovarus1AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0001883HP:0001762Talipes equinovarus1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0001883HP:0001762Talipes equinovarus1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0001883HP:0001762Talipes equinovarus1ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 66HP:0040282 - Frequent1
HP:0001883HP:0001762Talipes equinovarus1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001883HP:0001762Talipes equinovarus1ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4.
HP:0001883HP:0001772Talipes equinovalgus1ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0001883HP:0001762Talipes equinovarus1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001883HP:0001762Talipes equinovarus1ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0001883HP:0001762Talipes equinovarus1ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0001883HP:0001762Talipes equinovarus1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0001883HP:0001762Talipes equinovarus1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0001883HP:0001884Talipes calcaneovalgus1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001883HP:0001762Talipes equinovarus1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001883HP:0001762Talipes equinovarus1B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0001883HP:0001762Talipes equinovarus1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0001883HP:0001762Talipes equinovarus1B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0001883HP:0001762Talipes equinovarus1B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0001883HP:0001762Talipes equinovarus1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0001883HP:0001772Talipes equinovalgus1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001883HP:0001762Talipes equinovarus1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001883HP:0001762Talipes equinovarus1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1HP:0040283 - Occasional29
HP:0001883HP:0001772Talipes equinovalgus1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1HP:0040283 - Occasional29
HP:0001883HP:0001762Talipes equinovarus1B9D1 CL E G H2707724123OMIM:614209Meckel syndrome, type 9.28
HP:0001883HP:0001762Talipes equinovarus1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001883HP:0001762Talipes equinovarus1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2HP:0040283 - Occasional101
HP:0001883HP:0001762Talipes equinovarus1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0001883HP:0001762Talipes equinovarus1BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0001883HP:0001762Talipes equinovarus1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001883HP:0001762Talipes equinovarus1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2HP:0040283 - Occasional99
HP:0001883HP:0001762Talipes equinovarus1BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0001883HP:0001762Talipes equinovarus1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0001883HP:0001762Talipes equinovarus1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0001883HP:0001762Talipes equinovarus1BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional90
HP:0001883HP:0001762Talipes equinovarus1BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0001883HP:0001762Talipes equinovarus1C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001883HP:0001762Talipes equinovarus1CACNA1C CL E G H7751390OMIM:620029572
HP:0001883HP:0001762Talipes equinovarus1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001883HP:0001762Talipes equinovarus1CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6HP:0040281 - Very frequentHP:0003577 - Congenital onset247
HP:0001883HP:0001762Talipes equinovarus1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0001883HP:0001762Talipes equinovarus1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0001883HP:0001762Talipes equinovarus1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0001883HP:0001762Talipes equinovarus1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001883HP:0001762Talipes equinovarus1CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0001883HP:0001762Talipes equinovarus1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001883HP:0001762Talipes equinovarus1CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome.4
HP:0001883HP:0001762Talipes equinovarus1CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040283 - Occasional4
HP:0001883HP:0001884Talipes calcaneovalgus1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001883HP:0001762Talipes equinovarus1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001883HP:0001762Talipes equinovarus1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001883HP:0001772Talipes equinovalgus1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001883HP:0001762Talipes equinovarus1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001883HP:0001762Talipes equinovarus1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0001883HP:0001762Talipes equinovarus1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001883HP:0001772Talipes equinovalgus1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0001883HP:0001762Talipes equinovarus1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0001883HP:0001762Talipes equinovarus1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0001883HP:0001762Talipes equinovarus1COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson typeHP:0040281 - Very frequent67
HP:0001883HP:0001762Talipes equinovarus1COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0001883HP:0001762Talipes equinovarus1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001883HP:0001762Talipes equinovarus1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0001883HP:0001762Talipes equinovarus1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0001883HP:0001762Talipes equinovarus1COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2HP:0040284 - Very rare243
HP:0001883HP:0001762Talipes equinovarus1COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0001883HP:0001762Talipes equinovarus1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001883HP:0001762Talipes equinovarus1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0001883HP:0001762Talipes equinovarus1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040282 - Frequent749
HP:0001883HP:0001762Talipes equinovarus1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0001883HP:0001762Talipes equinovarus1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0001883HP:0001762Talipes equinovarus1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2HP:0040284 - Very rare325
HP:0001883HP:0001762Talipes equinovarus1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0001883HP:0001762Talipes equinovarus1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0001883HP:0001762Talipes equinovarus1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0001883HP:0001762Talipes equinovarus1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0001883HP:0001762Talipes equinovarus1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001883HP:0001762Talipes equinovarus1COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0001883HP:0001762Talipes equinovarus1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0001883HP:0001762Talipes equinovarus1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001883HP:0001762Talipes equinovarus1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001883HP:0001762Talipes equinovarus1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0001883HP:0001762Talipes equinovarus1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0001883HP:0001762Talipes equinovarus1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001883HP:0001762Talipes equinovarus1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001883HP:0001762Talipes equinovarus1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0001883HP:0001762Talipes equinovarus1CTH CL E G H14912501ORPHA:212CystathioninuriaHP:0040283 - Occasional38
HP:0001883HP:0001762Talipes equinovarus1CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0001883HP:0001762Talipes equinovarus1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0001883HP:0001762Talipes equinovarus1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0001883HP:0001762Talipes equinovarus1DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type.263
HP:0001883HP:0001762Talipes equinovarus1DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0001883HP:0001884Talipes calcaneovalgus1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0001883HP:0001884Talipes calcaneovalgus1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome.159
HP:0001883HP:0001762Talipes equinovarus1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001883HP:0001762Talipes equinovarus1DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0001883HP:0001762Talipes equinovarus1DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0001883HP:0001762Talipes equinovarus1DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0001883HP:0001762Talipes equinovarus1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0001883HP:0001762Talipes equinovarus1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0001883HP:0001762Talipes equinovarus1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0001883HP:0001762Talipes equinovarus1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0001883HP:0001762Talipes equinovarus1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040283 - Occasional51
HP:0001883HP:0001762Talipes equinovarus1ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5DHP:0040283 - Occasional37
HP:0001883HP:0001762Talipes equinovarus1EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0001883HP:0001762Talipes equinovarus1EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040283 - Occasional4
HP:0001883HP:0001762Talipes equinovarus1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0001883HP:0001762Talipes equinovarus1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0001883HP:0001762Talipes equinovarus1EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040282 - Frequent8
HP:0001883HP:0001762Talipes equinovarus1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0001883HP:0001884Talipes calcaneovalgus1ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001883HP:0001762Talipes equinovarus1ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001883HP:0001762Talipes equinovarus1ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessiveHP:0040283 - Occasional3
HP:0001883HP:0001762Talipes equinovarus1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001883HP:0001762Talipes equinovarus1ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0001883HP:0001762Talipes equinovarus1ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3.83
HP:0001883HP:0001762Talipes equinovarus1ERGIC1 CL E G H5722229205OMIM:208100Arthrogryposis multiplex congenita, Neurogenic type.
HP:0001883HP:0001884Talipes calcaneovalgus1ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040283 - Occasional36
HP:0001883HP:0001772Talipes equinovalgus1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0001883HP:0001762Talipes equinovarus1EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0001883HP:0001762Talipes equinovarus1EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0001883HP:0001762Talipes equinovarus1EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0001883HP:0001762Talipes equinovarus1EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040283 - Occasional81
HP:0001883HP:0001762Talipes equinovarus1EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001883HP:0001762Talipes equinovarus1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0001883HP:0001762Talipes equinovarus1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0001883HP:0001762Talipes equinovarus1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0001883HP:0001762Talipes equinovarus1FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001883HP:0001884Talipes calcaneovalgus1FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001883HP:0008124Talipes calcaneovarus1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0001883HP:0001762Talipes equinovarus1FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0001883HP:0001762Talipes equinovarus1FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0001883HP:0001762Talipes equinovarus1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0001883HP:0001762Talipes equinovarus1FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0001883HP:0001762Talipes equinovarus1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001883HP:0001762Talipes equinovarus1FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0001883HP:0001762Talipes equinovarus1FKBP10 CL E G H6068118169ORPHA:2771Bruck syndromeHP:0040282 - Frequent61
HP:0001883HP:0001762Talipes equinovarus1FKBP10 CL E G H6068118169OMIM:259450Bruck syndrome 1.61
HP:0001883HP:0001762Talipes equinovarus1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2HP:0040283 - Occasional13
HP:0001883HP:0001762Talipes equinovarus1FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4HP:0040283 - Occasional184
HP:0001883HP:0001762Talipes equinovarus1FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001883HP:0001762Talipes equinovarus1FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0001883HP:0001762Talipes equinovarus1FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040282 - Frequent233
HP:0001883HP:0001762Talipes equinovarus1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0001883HP:0001762Talipes equinovarus1FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0001883HP:0001772Talipes equinovalgus1FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0001883HP:0001762Talipes equinovarus1FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0001883HP:0001762Talipes equinovarus1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0001883HP:0001762Talipes equinovarus1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0001883HP:0001762Talipes equinovarus1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040282 - Frequent3
HP:0001883HP:0001762Talipes equinovarus1GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001883HP:0001762Talipes equinovarus1GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0001883HP:0001762Talipes equinovarus1GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0001883HP:0001762Talipes equinovarus1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0001883HP:0001762Talipes equinovarus1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia.86
HP:0001883HP:0001762Talipes equinovarus1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0001883HP:0001762Talipes equinovarus1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001883HP:0001762Talipes equinovarus1GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0001883HP:0001762Talipes equinovarus1GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0001883HP:0001762Talipes equinovarus1GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional52
HP:0001883HP:0001762Talipes equinovarus1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0001883HP:0001762Talipes equinovarus1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040283 - Occasional52
HP:0001883HP:0001772Talipes equinovalgus1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040283 - Occasional52
HP:0001883HP:0001772Talipes equinovalgus1GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactylyHP:0040282 - Frequent52
HP:0001883HP:0001762Talipes equinovarus1GDF5 CL E G H82004220OMIM:610017Multiple synostoses syndrome 2HP:0040283 - Occasional52
HP:0001883HP:0001762Talipes equinovarus1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0001883HP:0001762Talipes equinovarus1GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040281 - Very frequent270
HP:0001883HP:0001762Talipes equinovarus1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001883HP:0001762Talipes equinovarus1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0001883HP:0001762Talipes equinovarus1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001883HP:0001762Talipes equinovarus1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0001883HP:0001762Talipes equinovarus1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001883HP:0001762Talipes equinovarus1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0001883HP:0001762Talipes equinovarus1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001883HP:0001762Talipes equinovarus1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0001883HP:0001762Talipes equinovarus1GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001883HP:0001762Talipes equinovarus1GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0001883HP:0001762Talipes equinovarus1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001883HP:0001762Talipes equinovarus1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0001883HP:0001762Talipes equinovarus1GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopiaHP:0040284 - Very rare
HP:0001883HP:0001762Talipes equinovarus1H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0001883HP:0001762Talipes equinovarus1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0001883HP:0001762Talipes equinovarus1HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0001883HP:0001762Talipes equinovarus1HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0001883HP:0001762Talipes equinovarus1HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0001883HP:0001762Talipes equinovarus1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001883HP:0001762Talipes equinovarus1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040282 - Frequent11
HP:0001883HP:0001762Talipes equinovarus1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0001883HP:0001762Talipes equinovarus1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0001883HP:0001762Talipes equinovarus1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001883HP:0001762Talipes equinovarus1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0001883HP:0001762Talipes equinovarus1HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1.98
HP:0001883HP:0001762Talipes equinovarus1HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0001883HP:0001762Talipes equinovarus1HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040282 - Frequent345
HP:0001883HP:0001762Talipes equinovarus1HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0001883HP:0001762Talipes equinovarus1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0001883HP:0001762Talipes equinovarus1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001883HP:0001762Talipes equinovarus1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0001883HP:0001762Talipes equinovarus1IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0001883HP:0001762Talipes equinovarus1IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2SHP:0040283 - Occasional209
HP:0001883HP:0001762Talipes equinovarus1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0001883HP:0001762Talipes equinovarus1IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional44
HP:0001883HP:0001762Talipes equinovarus1IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001883HP:0001762Talipes equinovarus1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0001883HP:0001762Talipes equinovarus1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001883HP:0001762Talipes equinovarus1IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040284 - Very rare99
HP:0001883HP:0001762Talipes equinovarus1IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0001883HP:0001762Talipes equinovarus1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0001883HP:0001762Talipes equinovarus1ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 1.4
HP:0001883HP:0001762Talipes equinovarus1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001883HP:0001762Talipes equinovarus1JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0001883HP:0001762Talipes equinovarus1KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0001883HP:0001762Talipes equinovarus1KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0001883HP:0001762Talipes equinovarus1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0001883HP:0008124Talipes calcaneovarus1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0001883HP:0001762Talipes equinovarus1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0001883HP:0001762Talipes equinovarus1KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0001883HP:0001762Talipes equinovarus1KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9HP:0040283 - Occasional276
HP:0001883HP:0001762Talipes equinovarus1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0001883HP:0001762Talipes equinovarus1KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0001883HP:0001762Talipes equinovarus1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0001883HP:0001762Talipes equinovarus1L1CAM CL E G H38976470OMIM:303350MASA syndrome.134
HP:0001883HP:0001762Talipes equinovarus1LAMA5 CL E G H39116485OMIM:6200765
HP:0001883HP:0001762Talipes equinovarus1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0001883HP:0001762Talipes equinovarus1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001883HP:0001762Talipes equinovarus1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001883HP:0001762Talipes equinovarus1LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0001883HP:0001762Talipes equinovarus1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040282 - Frequent144
HP:0001883HP:0001762Talipes equinovarus1LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0001883HP:0001762Talipes equinovarus1LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0001883HP:0001762Talipes equinovarus1LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0001883HP:0001884Talipes calcaneovalgus1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0001883HP:0001772Talipes equinovalgus1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0001883HP:0008124Talipes calcaneovarus1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0001883HP:0001762Talipes equinovarus1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0001883HP:0001762Talipes equinovarus1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0001883HP:0001762Talipes equinovarus1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001883HP:0001762Talipes equinovarus1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0001883HP:0001762Talipes equinovarus1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001883HP:0001762Talipes equinovarus1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0001883HP:0001762Talipes equinovarus1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0001883HP:0001762Talipes equinovarus1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001883HP:0001762Talipes equinovarus1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0001883HP:0001762Talipes equinovarus1MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defectsHP:0040283 - Occasional74
HP:0001883HP:0001762Talipes equinovarus1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0001883HP:0001762Talipes equinovarus1MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040283 - Occasional13
HP:0001883HP:0001762Talipes equinovarus1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0001883HP:0001762Talipes equinovarus1MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0001883HP:0001762Talipes equinovarus1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0001883HP:0001762Talipes equinovarus1MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040284 - Very rare12
HP:0001883HP:0001762Talipes equinovarus1MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0001883HP:0001762Talipes equinovarus1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0001883HP:0001762Talipes equinovarus1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0001883HP:0001762Talipes equinovarus1MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0001883HP:0001762Talipes equinovarus1MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0001883HP:0001762Talipes equinovarus1MYBPC1 CL E G H46047549OMIM:614335Arthrogryposis, distal, type 1B66
HP:0001883HP:0001762Talipes equinovarus1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0001883HP:0001762Talipes equinovarus1MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3.166
HP:0001883HP:0001762Talipes equinovarus1MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0001883HP:0001762Talipes equinovarus1MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent166
HP:0001883HP:0001762Talipes equinovarus1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0001883HP:0001762Talipes equinovarus1MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0001883HP:0001762Talipes equinovarus1MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001883HP:0001762Talipes equinovarus1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0001883HP:0001762Talipes equinovarus1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040282 - Frequent5
HP:0001883HP:0001762Talipes equinovarus1MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0001883HP:0001762Talipes equinovarus1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040282 - Frequent
HP:0001883HP:0001762Talipes equinovarus1MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic
HP:0001883HP:0001762Talipes equinovarus1MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessiveHP:0040283 - Occasional217
HP:0001883HP:0001762Talipes equinovarus1MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0001883HP:0001762Talipes equinovarus1NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001883HP:0001762Talipes equinovarus1NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0001883HP:0001762Talipes equinovarus1NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent48
HP:0001883HP:0001762Talipes equinovarus1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0001883HP:0001762Talipes equinovarus1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0001883HP:0001762Talipes equinovarus1NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D82
HP:0001883HP:0001762Talipes equinovarus1NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040284 - Very rare4
HP:0001883HP:0001884Talipes calcaneovalgus1NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0001883HP:0001762Talipes equinovarus1NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 2.43
HP:0001883HP:0001762Talipes equinovarus1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0001883HP:0001762Talipes equinovarus1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0001883HP:0001762Talipes equinovarus1NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001883HP:0001762Talipes equinovarus1NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0001883HP:0001762Talipes equinovarus1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0001883HP:0001762Talipes equinovarus1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0001883HP:0001762Talipes equinovarus1NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040283 - Occasional544
HP:0001883HP:0001762Talipes equinovarus1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0001883HP:0001762Talipes equinovarus1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001883HP:0001762Talipes equinovarus1NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessiveHP:0040283 - Occasional15
HP:0001883HP:0001762Talipes equinovarus1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0001883HP:0001762Talipes equinovarus1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0001883HP:0001762Talipes equinovarus1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0001883HP:0001772Talipes equinovalgus1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001883HP:0001762Talipes equinovarus1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001883HP:0001762Talipes equinovarus1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0001883HP:0001762Talipes equinovarus1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0001883HP:0001762Talipes equinovarus1PAICS CL E G H106068587OMIM:619859
HP:0001883HP:0001762Talipes equinovarus1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001883HP:0001762Talipes equinovarus1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0001883HP:0001762Talipes equinovarus1PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger).106
HP:0001883HP:0001762Talipes equinovarus1PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0001883HP:0001762Talipes equinovarus1PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0001883HP:0001762Talipes equinovarus1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001883HP:0001762Talipes equinovarus1PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.11
HP:0001883HP:0001762Talipes equinovarus1PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0001883HP:0001762Talipes equinovarus1PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 577
HP:0001883HP:0001762Talipes equinovarus1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0001883HP:0001762Talipes equinovarus1PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome77
HP:0001883HP:0001762Talipes equinovarus1PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0001883HP:0001762Talipes equinovarus1PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001883HP:0001762Talipes equinovarus1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0001883HP:0001762Talipes equinovarus1PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001883HP:0001884Talipes calcaneovalgus1PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0001883HP:0001762Talipes equinovarus1PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0001883HP:0001762Talipes equinovarus1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0001883HP:0001762Talipes equinovarus1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040282 - Frequent105
HP:0001883HP:0001762Talipes equinovarus1PLOD2 CL E G H53529082ORPHA:2771Bruck syndromeHP:0040282 - Frequent45
HP:0001883HP:0001762Talipes equinovarus1PLOD2 CL E G H53529082OMIM:609220Bruck syndrome 2.45
HP:0001883HP:0001762Talipes equinovarus1PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0001883HP:0001762Talipes equinovarus1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040282 - Frequent
HP:0001883HP:0001884Talipes calcaneovalgus1PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0001883HP:0008124Talipes calcaneovarus1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040283 - Occasional79
HP:0001883HP:0001762Talipes equinovarus1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0001883HP:0001762Talipes equinovarus1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0001883HP:0001762Talipes equinovarus1POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001883HP:0001762Talipes equinovarus1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001883HP:0001762Talipes equinovarus1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0001883HP:0001762Talipes equinovarus1PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0001883HP:0001762Talipes equinovarus1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0001883HP:0001762Talipes equinovarus1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001883HP:0001762Talipes equinovarus1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0001883HP:0001772Talipes equinovalgus1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0001883HP:0001762Talipes equinovarus1PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0001883HP:0001762Talipes equinovarus1RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0001883HP:0001762Talipes equinovarus1RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040283 - Occasional31
HP:0001883HP:0001762Talipes equinovarus1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0001883HP:0001762Talipes equinovarus1RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0001883HP:0001762Talipes equinovarus1RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040281 - Very frequent16
HP:0001883HP:0001762Talipes equinovarus1RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0001883HP:0001762Talipes equinovarus1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001883HP:0001762Talipes equinovarus1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001883HP:0001762Talipes equinovarus1REEP1 CL E G H6505525786OMIM:62001187
HP:0001883HP:0001762Talipes equinovarus1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040282 - Frequent3
HP:0001883HP:0001762Talipes equinovarus1RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0001883HP:0001762Talipes equinovarus1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001883HP:0001762Talipes equinovarus1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001883HP:0001762Talipes equinovarus1RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0001883HP:0001762Talipes equinovarus1RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0001883HP:0001762Talipes equinovarus1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0001883HP:0001762Talipes equinovarus1RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0001883HP:0001762Talipes equinovarus1RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0001883HP:0001762Talipes equinovarus1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001883HP:0001762Talipes equinovarus1SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0001883HP:0001762Talipes equinovarus1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0001883HP:0001762Talipes equinovarus1SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0001883HP:0001762Talipes equinovarus1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0001883HP:0001762Talipes equinovarus1SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0001883HP:0001762Talipes equinovarus1SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001883HP:0001762Talipes equinovarus1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0001883HP:0001762Talipes equinovarus1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040284 - Very rare5
HP:0001883HP:0001762Talipes equinovarus1SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21HP:0040283 - Occasional5
HP:0001883HP:0001762Talipes equinovarus1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001883HP:0001762Talipes equinovarus1SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001883HP:0001762Talipes equinovarus1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0001883HP:0001762Talipes equinovarus1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0001883HP:0001762Talipes equinovarus1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0001883HP:0001762Talipes equinovarus1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0001883HP:0001762Talipes equinovarus1SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040283 - Occasional49
HP:0001883HP:0001762Talipes equinovarus1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001883HP:0001762Talipes equinovarus1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0001883HP:0001762Talipes equinovarus1SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0001883HP:0001762Talipes equinovarus1SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0001883HP:0001762Talipes equinovarus1SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type).36
HP:0001883HP:0001762Talipes equinovarus1SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040282 - Frequent166
HP:0001883HP:0001762Talipes equinovarus1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0001883HP:0001762Talipes equinovarus1SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0001883HP:0001762Talipes equinovarus1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0001883HP:0001762Talipes equinovarus1SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0001883HP:0001762Talipes equinovarus1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040282 - Frequent166
HP:0001883HP:0001762Talipes equinovarus1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0001883HP:0001762Talipes equinovarus1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0001883HP:0001762Talipes equinovarus1SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0001883HP:0001762Talipes equinovarus1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001883HP:0001762Talipes equinovarus1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0001883HP:0001762Talipes equinovarus1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0001883HP:0001762Talipes equinovarus1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0001883HP:0001762Talipes equinovarus1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0001883HP:0001762Talipes equinovarus1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0001883HP:0001762Talipes equinovarus1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0001883HP:0001762Talipes equinovarus1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0001883HP:0001762Talipes equinovarus1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0001883HP:0001762Talipes equinovarus1SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0001883HP:0001762Talipes equinovarus1SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040282 - Frequent109
HP:0001883HP:0001762Talipes equinovarus1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0001883HP:0001884Talipes calcaneovalgus1SPECC1L CL E G H2338429022OMIM:600251Facial clefting, oblique, 1.6
HP:0001883HP:0001762Talipes equinovarus1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0001883HP:0001762Talipes equinovarus1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001883HP:0001762Talipes equinovarus1STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040282 - Frequent14
HP:0001883HP:0001762Talipes equinovarus1STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0001883HP:0001762Talipes equinovarus1SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040283 - Occasional1
HP:0001883HP:0001762Talipes equinovarus1SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0001883HP:0001762Talipes equinovarus1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001883HP:0001762Talipes equinovarus1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0001883HP:0001762Talipes equinovarus1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001883HP:0001762Talipes equinovarus1TAF8 CL E G H12968517300OMIM:619972
HP:0001883HP:0001762Talipes equinovarus1TAFAZZIN CL E G H690111577OMIM:302060Barth syndromeHP:0040283 - Occasional
HP:0001883HP:0001762Talipes equinovarus1TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0001883HP:0001762Talipes equinovarus1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001883HP:0001762Talipes equinovarus1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0001883HP:0001762Talipes equinovarus1TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplicationHP:0040281 - Very frequent55
HP:0001883HP:0001762Talipes equinovarus1TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24HP:0040283 - Occasional76
HP:0001883HP:0001762Talipes equinovarus1TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0001883HP:0001762Talipes equinovarus1TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0001883HP:0001762Talipes equinovarus1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001883HP:0001762Talipes equinovarus1TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0001883HP:0001762Talipes equinovarus1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001883HP:0001762Talipes equinovarus1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001883HP:0001762Talipes equinovarus1TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0001883HP:0001762Talipes equinovarus1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001883HP:0001762Talipes equinovarus1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0001883HP:0001762Talipes equinovarus1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0001883HP:0001762Talipes equinovarus1TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8HP:0040283 - Occasional5
HP:0001883HP:0001762Talipes equinovarus1TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0001883HP:0001762Talipes equinovarus1TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0001883HP:0001772Talipes equinovalgus1TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0001883HP:0001762Talipes equinovarus1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001883HP:0001762Talipes equinovarus1TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040284 - Very rare140
HP:0001883HP:0001762Talipes equinovarus1TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0001883HP:0001762Talipes equinovarus1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0001883HP:0001762Talipes equinovarus1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0001883HP:0001762Talipes equinovarus1TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 9.2
HP:0001883HP:0001762Talipes equinovarus1TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0001883HP:0001762Talipes equinovarus1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0001883HP:0001762Talipes equinovarus1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0001883HP:0001762Talipes equinovarus1TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0001883HP:0001762Talipes equinovarus1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0001883HP:0001762Talipes equinovarus1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0001883HP:0001762Talipes equinovarus1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndromeHP:0040283 - Occasional7
HP:0001883HP:0001762Talipes equinovarus1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0001883HP:0001762Talipes equinovarus1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001883HP:0001762Talipes equinovarus1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001883HP:0001762Talipes equinovarus1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0001883HP:0001762Talipes equinovarus1USP8 CL E G H910112631ORPHA:401795Autosomal recessive spastic paraplegia type 59HP:0040282 - Frequent7
HP:0001883HP:0001762Talipes equinovarus1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040282 - Frequent111
HP:0001883HP:0001762Talipes equinovarus1VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele111
HP:0001883HP:0001884Talipes calcaneovalgus1VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2.27
HP:0001883HP:0001762Talipes equinovarus1VPS33B CL E G H2627612712OMIM:62000963
HP:0001883HP:0001884Talipes calcaneovalgus1VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0001883HP:0001762Talipes equinovarus1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0001883HP:0001762Talipes equinovarus1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001883HP:0001762Talipes equinovarus1WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0001883HP:0001762Talipes equinovarus1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0001883HP:0001762Talipes equinovarus1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0001883HP:0001762Talipes equinovarus1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0001883HP:0001762Talipes equinovarus1ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant.52
HP:0001883HP:0001762Talipes equinovarus1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0001883HP:0001762Talipes equinovarus1ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0001883HP:0001762Talipes equinovarus1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001883HP:0001762Talipes equinovarus1ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0001883HP:0001762Talipes equinovarus1ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5
HP:0001883HP:0005850Congenital talipes calcaneovalgus2 CL E G H
HP:0001883HP:0001776Bilateral talipes equinovarus2ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001883HP:0001776Bilateral talipes equinovarus2B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0001883HP:0001776Bilateral talipes equinovarus2BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0001883HP:0001776Bilateral talipes equinovarus2CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001883HP:0001776Bilateral talipes equinovarus2CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001883HP:0001776Bilateral talipes equinovarus2COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0001883HP:0004696Talipes cavus equinovarus2COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0001883HP:0001776Bilateral talipes equinovarus2CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0001883HP:0001776Bilateral talipes equinovarus2DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0001883HP:0001776Bilateral talipes equinovarus2EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0001883HP:0001776Bilateral talipes equinovarus2FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0001883HP:0001776Bilateral talipes equinovarus2GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001883HP:0001776Bilateral talipes equinovarus2GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0001883HP:0001776Bilateral talipes equinovarus2MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0001883HP:0001776Bilateral talipes equinovarus2MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001883HP:0001776Bilateral talipes equinovarus2MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001883HP:0001776Bilateral talipes equinovarus2MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0001883HP:0004696Talipes cavus equinovarus2MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0001883HP:0001776Bilateral talipes equinovarus2MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0001883HP:0004696Talipes cavus equinovarus2NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0001883HP:0001776Bilateral talipes equinovarus2PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001883HP:0001776Bilateral talipes equinovarus2PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0001883HP:0001776Bilateral talipes equinovarus2PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040282 - Frequent77
HP:0001883HP:0001776Bilateral talipes equinovarus2PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001883HP:0001776Bilateral talipes equinovarus2PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0001883HP:0001776Bilateral talipes equinovarus2PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001883HP:0001776Bilateral talipes equinovarus2PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0001883HP:0001776Bilateral talipes equinovarus2RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency.
HP:0001883HP:0001776Bilateral talipes equinovarus2SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0001883HP:0001776Bilateral talipes equinovarus2SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001883HP:0001776Bilateral talipes equinovarus2SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0001883HP:0001776Bilateral talipes equinovarus2SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040282 - Frequent166
HP:0001883HP:0001776Bilateral talipes equinovarus2SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0001883HP:0001776Bilateral talipes equinovarus2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001883HP:0001776Bilateral talipes equinovarus2SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0001883HP:0001776Bilateral talipes equinovarus2SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0001883HP:0001776Bilateral talipes equinovarus2SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001883HP:0001776Bilateral talipes equinovarus2SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0001883HP:0004696Talipes cavus equinovarus2TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001883HP:0001776Bilateral talipes equinovarus2UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0001883HP:0001776Bilateral talipes equinovarus2VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele111
HP:0001883HP:0001776Bilateral talipes equinovarus2ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39


Genes (414) :ABHD16A ACTA1 ADAT3 ADGRG6 ALDH18A1 ALDH1A2 ALG12 ALG14 ALG3 ALG8 ALG9 AMER1 AMMECR1 ANK1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARHGAP31 ARSI ARVCF ATAD1 ATAD3A ATP6V0A2 ATP6V1A ATP6V1E1 ATR ATRX B3GALT6 B3GAT3 B4GALT7 B9D1 B9D2 BAP1 BCOR BICD2 BIN1 BLTP1 BMPER BMPR1B BRD4 BRPF1 C12ORF57 CACNA1C CANT1 CC2D2A CCBE1 CCDC47 CD96 CEP290 CEP55 CHD7 CHMP1A CHN1 CHRM3 CHRNG CHST14 CHST3 CLCN3 CLTCL1 COG1 COG4 COG8 COL12A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COMT COQ8A CPLX1 CREBBP CRIPT CRLF1 CSPP1 CTBP1 CTDP1 CTH CTU2 DCHS1 DES DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHX16 DLL4 DMPK DOCK6 DOK7 DONSON DPYS DSE DST DYM DYNC1H1 DYNC2H1 EBP ECEL1 EDEM3 EED EEF1A2 EHMT1 EIF2S3 EIF4A3 ELN ENTPD1 EOGT EP300 ERBB2 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 ERMARD ESCO2 ESS2 EVC EVC2 EXOC6B EXT1 EZH2 FANCL FAT4 FBLN5 FBN1 FBN2 FBXO7 FGD1 FGD4 FGFRL1 FIBP FKBP10 FKBP14 FKTN FLI1 FLNA FLNB FOXG1 FUZ GAD1 GAN GCH1 GDAP1 GDF5 GJA5 GJA8 GLE1 GLI3 GNPTAB GORAB GP1BB GPC3 GPC4 GPX4 GRIA2 GSC GTPBP2 GUSB GZF1 H1-4 HAAO HACD1 HACE1 HBA1 HBA2 HDAC8 HIRA HK1 HNRNPK HRAS HSD17B4 HSPB1 HSPG2 HYLS1 IFIH1 IGHMBP2 IHH IL6ST IMPDH2 IPO8 IRF6 ITGA7 ITGA8 JMJD1C JPH1 KAT6B KDM5C KIDINS220 KIF1A KMT5B KY KYNU L1CAM LAMA5 LAMB2 LBR LETM1 LGI4 LIFR LIMS2 LMBR1 LMBRD1 LMNA LMX1B LONP1 MAFB MAN2B1 MAN2C1 MAP3K20 MAP3K7 MAPK1 MCTP2 MED13L MEGF10 MEGF8 MFSD2A MKS1 MPZ MSX1 MTMR2 MTRFR MTTP MUSK MYBPC1 MYH3 MYH7 MYH8 MYL11 MYL2 MYMK MYMX MYO9A MYPN MYT1L NADSYN1 NALCN NDE1 NDRG1 NEB NECTIN1 NEFL NEK8 NEK9 NELFA NIPBL NKAP NKX3-2 NOTCH1 NR4A2 NSD1 NSD2 NT5C2 OFD1 ORC1 ORC6 OTUD5 OTUD6B PAICS PDHA1 PEX1 PEX2 PEX26 PEX5 PI4KA PIEZO2 PIGB PIGG PITX1 PLA2G6 PLEKHG5 PLOD1 PLOD2 PLOD3 PLXND1 PMP22 POLR3A POLR3GL POLRMT POR PPP3CA PRUNE1 PSAT1 PTEN PTRH2 PUF60 PYCR1 RAB11B RAB23 RAB3GAP2 RAD21 RAI1 RBM10 RBM8A RBPJ RECQL4 REEP1 REV3L RINT1 RIPK4 RPGRIP1 RPGRIP1L RREB1 RSPO2 RUSC2 RYR1 SALL1 SALL4 SAMD9 SATB2 SBF2 SC5D SCARF2 SCYL1 SEC24C SEC31A SELENON SEMA3E SETBP1 SETD2 SF3B4 SH3PXD2B SH3TC2 SHROOM4 SKI SLC25A19 SLC26A2 SLC35A2 SLC35D1 SLC6A9 SMAD3 SMARCA2 SMARCAL1 SMC1A SMC3 SMOC1 SMS SNCA SNRPN SNX14 SOX9 SPECC1L SPEG SPTBN1 STAC3 STXBP1 SUZ12 SYNE1 SYT1 TAF1 TAF8 TAFAZZIN TBC1D23 TBX1 TBX15 TBX4 TCTN1 TCTN2 TCTN3 TFE3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TH TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMTC3 TNNI2 TNNT3 TOR1A TP63 TPM2 TPM3 TRAIP TRIM2 TRIP11 TRPS1 TRPV4 TSPOAP1 TTN TWIST2 TXNDC15 UBE2A UFD1 UNC80 USP8 VANGL1 VIPAS39 VPS33B VRK1 VWA1 WDR73 WNT7A ZC4H2 ZFYVE27 ZIC3 ZNF148 ZNF699 ZSWIM6

Diseases (441) :OMIM:619735 ORPHA:2020 ORPHA:363528 OMIM:616503 ORPHA:90348 OMIM:616603 OMIM:219150 OMIM:620025 ORPHA:79324 OMIM:607143 OMIM:619036 OMIM:601110 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:300373 OMIM:300990 ORPHA:251066 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:821 ORPHA:974 OMIM:100300 ORPHA:401815 ORPHA:567 OMIM:618011 OMIM:617183 OMIM:278250 OMIM:617403 OMIM:617402 OMIM:210600 ORPHA:847 OMIM:301040 OMIM:309580 OMIM:609465 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:245600 OMIM:130070 ORPHA:564 OMIM:614209 OMIM:619762 OMIM:300166 OMIM:615290 OMIM:618291 ORPHA:169186 OMIM:255200 OMIM:617822 OMIM:608022 OMIM:609441 ORPHA:93388 ORPHA:199 OMIM:617333 OMIM:218340 OMIM:620029 OMIM:251450 OMIM:612284 OMIM:235510 OMIM:618268 ORPHA:1308 OMIM:236500 ORPHA:138 OMIM:214800 OMIM:614961 ORPHA:233 OMIM:100100 ORPHA:2970 OMIM:265000 OMIM:601776 OMIM:143095 OMIM:619512 ORPHA:453510 ORPHA:263508 OMIM:611209 ORPHA:85172 OMIM:618150 OMIM:611182 ORPHA:536516 ORPHA:287 OMIM:617821 OMIM:183900 ORPHA:1856 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:130010 OMIM:254090 ORPHA:98915 ORPHA:139485 OMIM:194190 ORPHA:280 OMIM:180849 OMIM:615789 OMIM:272430 OMIM:604168 ORPHA:212 OMIM:618142 ORPHA:314679 OMIM:601390 OMIM:181400 OMIM:192430 OMIM:602398 ORPHA:35107 ORPHA:818 OMIM:270400 OMIM:618733 ORPHA:589821 OMIM:618389 OMIM:251230 OMIM:222748 OMIM:615539 OMIM:614653 OMIM:223800 OMIM:614228 OMIM:613091 OMIM:302960 ORPHA:35173 OMIM:615065 OMIM:619493 ORPHA:3447 OMIM:616393 OMIM:610253 ORPHA:85282 OMIM:268305 OMIM:615683 OMIM:619465 ORPHA:1466 OMIM:616570 OMIM:208100 ORPHA:75857 OMIM:268300 OMIM:225500 ORPHA:502 OMIM:277590 OMIM:614083 OMIM:615546 OMIM:154700 ORPHA:284979 OMIM:121050 OMIM:260300 ORPHA:171695 ORPHA:915 OMIM:609311 ORPHA:500095 ORPHA:2771 OMIM:259450 ORPHA:1149 OMIM:614557 OMIM:611588 ORPHA:2308 OMIM:309350 ORPHA:1190 ORPHA:56305 OMIM:108720 OMIM:108721 OMIM:150250 OMIM:272460 OMIM:613454 ORPHA:3027 OMIM:619124 ORPHA:643 OMIM:256850 ORPHA:98808 OMIM:128230 ORPHA:101097 ORPHA:99948 OMIM:607831 OMIM:608340 OMIM:615072 OMIM:113100 OMIM:228900 OMIM:610017 OMIM:612474 OMIM:611890 ORPHA:672 ORPHA:93322 OMIM:252500 ORPHA:576 ORPHA:2078 ORPHA:373 OMIM:312870 OMIM:250220 OMIM:618917 OMIM:602471 OMIM:617988 OMIM:253220 OMIM:617662 OMIM:617537 OMIM:617660 OMIM:616756 ORPHA:98791 ORPHA:99953 ORPHA:352665 ORPHA:453504 OMIM:218040 OMIM:261515 OMIM:233400 ORPHA:99940 OMIM:224410 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:236680 OMIM:182250 OMIM:616155 OMIM:604320 OMIM:619752 OMIM:619472 ORPHA:199302 OMIM:119500 OMIM:191830 OMIM:606170 ORPHA:85201 OMIM:300534 ORPHA:85279 OMIM:619501 OMIM:614255 OMIM:617788 ORPHA:496689 OMIM:617114 OMIM:617661 OMIM:303350 OMIM:620076 OMIM:215140 OMIM:617468 ORPHA:3206 OMIM:601559 OMIM:616827 ORPHA:2378 OMIM:277380 ORPHA:157973 OMIM:613205 ORPHA:495818 ORPHA:2614 OMIM:161200 ORPHA:79243 ORPHA:309282 OMIM:619775 OMIM:617137 OMIM:619087 ORPHA:1596 OMIM:616789 OMIM:614399 ORPHA:65759 OMIM:614976 OMIM:616486 OMIM:249000 ORPHA:3115 OMIM:601382 ORPHA:320375 OMIM:615035 ORPHA:14 OMIM:208150 OMIM:614335 ORPHA:1146 OMIM:193700 OMIM:618436 OMIM:618469 ORPHA:2053 ORPHA:59135 OMIM:158300 OMIM:619110 OMIM:254940 ORPHA:1358 OMIM:618198 OMIM:617336 OMIM:616521 OMIM:618845 OMIM:616266 ORPHA:371364 OMIM:605013 OMIM:601455 OMIM:256030 ORPHA:99939 OMIM:615415 OMIM:617022 OMIM:301039 OMIM:613330 OMIM:613162 OMIM:300209 OMIM:224690 OMIM:613803 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:619859 OMIM:214100 OMIM:614866 OMIM:614872 OMIM:214110 OMIM:616716 OMIM:619708 OMIM:616531 OMIM:114300 OMIM:108145 OMIM:617146 ORPHA:1154 ORPHA:376 ORPHA:2461 OMIM:248700 OMIM:618580 OMIM:119800 OMIM:610217 OMIM:611067 OMIM:225400 ORPHA:1900 OMIM:609220 OMIM:612394 ORPHA:570 OMIM:118300 ORPHA:90658 OMIM:264090 OMIM:619234 OMIM:619743 ORPHA:95699 OMIM:617711 OMIM:617481 ORPHA:544469 ORPHA:284417 ORPHA:137608 ORPHA:456312 OMIM:616263 ORPHA:508488 OMIM:617807 OMIM:212720 ORPHA:477817 ORPHA:2886 OMIM:311900 OMIM:274000 OMIM:268400 OMIM:620011 OMIM:618641 ORPHA:1234 OMIM:263650 OMIM:618022 OMIM:617773 ORPHA:597 OMIM:117000 ORPHA:178145 OMIM:107480 ORPHA:959 OMIM:617053 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:604563 ORPHA:46059 OMIM:607330 OMIM:600920 ORPHA:466794 OMIM:616719 OMIM:618651 OMIM:269150 OMIM:154400 ORPHA:1788 OMIM:249420 OMIM:601596 ORPHA:85288 OMIM:182212 OMIM:613710 ORPHA:93298 ORPHA:56304 OMIM:256050 OMIM:222600 OMIM:226900 ORPHA:93307 ORPHA:356961 OMIM:269250 OMIM:617301 OMIM:613795 OMIM:619293 OMIM:242900 OMIM:301044 OMIM:206920 ORPHA:1106 OMIM:309583 ORPHA:177907 ORPHA:397709 OMIM:616354 ORPHA:140 OMIM:114290 OMIM:600251 OMIM:619475 OMIM:255995 ORPHA:168572 OMIM:618484 ORPHA:319332 ORPHA:522077 OMIM:300966 OMIM:619972 OMIM:302060 OMIM:617695 OMIM:260660 ORPHA:238578 OMIM:616654 OMIM:613885 OMIM:614815 OMIM:301066 OMIM:616145 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 ORPHA:101150 OMIM:213980 OMIM:617255 OMIM:601680 OMIM:618435 OMIM:618947 OMIM:108120 OMIM:616777 OMIM:615490 OMIM:200600 OMIM:181405 OMIM:600175 OMIM:200110 OMIM:209885 OMIM:619879 ORPHA:163956 ORPHA:401795 OMIM:600145 OMIM:613404 OMIM:620009 OMIM:208085 OMIM:607596 OMIM:619216 OMIM:251300 OMIM:228930 ORPHA:2879 OMIM:314580 OMIM:301041 OMIM:610244 OMIM:306955 OMIM:617260 OMIM:619488 OMIM:603671 ORPHA:1827
 

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