Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | | | | 89 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | | | | 89 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | | | | 37 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | | | | 49 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | | | | 41 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | | | | 18 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | | | | 38 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | | | | 38 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B9D1 CL E G H | 27077 | 24123 | OMIM:614209 | Meckel syndrome, type 9 | | | | 28 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | | | | 46 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 99 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | | | | 99 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | | | | 90 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | | | | 10 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | | | | 13 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | | | | 67 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | | | | 67 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | | | | 65 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:617821 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | | | | 243 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | | | | 284 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | | | | 749 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | | | | 136 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CTH CL E G H | 1491 | 2501 | ORPHA:212 | Cystathioninuria | | | | 38 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 27 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DES CL E G H | 1674 | 2770 | OMIM:181400 | Scapuloperoneal syndrome, neurogenic, Kaeser type | | | | 263 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | | | | 72 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | | | | 9 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | | | | 13 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | | | | 427 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | | | | 37 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ENTPD1 CL E G H | 953 | 3363 | OMIM:615683 | Spastic paraplegia 64, autosomal recessive | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:619465 | VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2 | | | | 77 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | | | | 20 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | | | | 106 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | | | | 83 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | | | | 83 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | | | | 199 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ERGIC1 CL E G H | 57222 | 29205 | OMIM:208100 | Arthrogryposis multiplex congenita, Neurogenic type | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | | | | 36 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | | | | 81 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040283 - Occasional | | | 76 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 114 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:2771 | Bruck syndrome | | | | 61 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FKBP10 CL E G H | 60681 | 18169 | OMIM:259450 | Bruck syndrome 1 | | | | 61 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:1149 | Kuskokwim syndrome | | | | 61 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | | | | 184 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | | | | 233 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | | | | 233 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | | | | 121 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | | | | 121 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 86 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 108 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | | | | 108 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:610017 | Multiple synostoses syndrome 2 | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | | | | 270 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 200 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 88 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | | | | 98 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | | | | 47 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | | | | 209 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | | | | 44 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | | | | 99 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | | | | 99 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040282 - Frequent | | | 283 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040282 - Frequent | | | 283 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:619501 | VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | | | | 276 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | | | | 134 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | | | | 6 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | | | | 144 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:157973 | Congenital muscular dystrophy due to LMNA mutation | | | | 645 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | | | | 645 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | | | | 11 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | | | | 12 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | | | | 88 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | | | | 66 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYBPC1 CL E G H | 4604 | 7549 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 66 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618436 | Arthrogryposis, distal, type 2B3 | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | | | | 93 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | | | | 217 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 48 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 48 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | | | | 82 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | | | | 43 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 27 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | | | | 544 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | NT5C2 CL E G H | 22978 | 8022 | OMIM:613162 | Spastic paraplegia 45, autosomal recessive | | | | 15 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | | | | 106 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | | | | 77 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | | | | 77 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | | | | 77 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:376 | Gordon syndrome | | | | 77 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | | | | 77 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | | | | 133 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | | | | 186 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PLOD2 CL E G H | 5352 | 9082 | ORPHA:2771 | Bruck syndrome | | | | 45 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | | | | 45 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | | | | 79 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | | | | 948 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | | | | 6 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | | | | 53 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | | | | 69 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 1200 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | | | | 1200 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | | | | 1200 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | | | | 1200 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | | | | 180 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | | | | 49 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SHROOM4 CL E G H | 57477 | 29215 | ORPHA:85288 | X-linked intellectual disability, Stocco Dos Santos type | | | | 42 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | | | | 36 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:600251 | Facial clefting, oblique, 1 | | | | 6 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 20 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | | | | 14 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | | | | 14 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | | | | 1129 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:238578 | Familial clubfoot due to 17q23.1q23.2 microduplication | | | | 55 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | | | | 76 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | | | | 76 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | | | | 6 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 80 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | | | | 37 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 37 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | | | | 43 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 43 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | | | | 140 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 54 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | | | | 3 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | | | | 214 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 7128 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:401795 | Autosomal recessive spastic paraplegia type 59 | | | | 7 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | | | | 111 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | | | | 27 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | | | | 13 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | | | | 52 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | | | | 5 | | |
HP:0005656 | HP:0005656 | Positional foot deformity | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | | | | 89 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | | | | 89 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | | | | 37 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | | | | 49 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | | | | 41 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | | | | 18 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | | | | 38 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | | | | 38 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B9D1 CL E G H | 27077 | 24123 | OMIM:614209 | Meckel syndrome, type 9 | | | | 28 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | | | | 46 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 99 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | | | | 99 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | | | | 90 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | | | | 10 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | | | | 13 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | | | | 67 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | | | | 67 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | | | | 65 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:617821 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | | | | 243 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | HP:0040283 - Occasional | | | 284 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | | | | 749 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | | | | 136 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CTH CL E G H | 1491 | 2501 | ORPHA:212 | Cystathioninuria | | | | 38 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 27 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DES CL E G H | 1674 | 2770 | OMIM:181400 | Scapuloperoneal syndrome, neurogenic, Kaeser type | | | | 263 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040283 - Occasional | | | 72 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | | | | 9 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | | | | 13 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | | | | 427 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | | | | 37 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ENTPD1 CL E G H | 953 | 3363 | OMIM:615683 | Spastic paraplegia 64, autosomal recessive | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:619465 | VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2 | | | | 77 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | | | | 83 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040283 - Occasional | | | 199 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ERGIC1 CL E G H | 57222 | 29205 | OMIM:208100 | Arthrogryposis multiplex congenita, Neurogenic type | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | | | | 36 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 96 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | | | | 81 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 114 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:2771 | Bruck syndrome | | | | 61 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FKBP10 CL E G H | 60681 | 18169 | OMIM:259450 | Bruck syndrome 1 | | | | 61 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:1149 | Kuskokwim syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | | | | 184 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | | | | 233 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | | | | 233 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | | | | 121 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | | | | 121 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 86 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 108 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | | | | 108 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:610017 | Multiple synostoses syndrome 2 | | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | | | | 270 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | . | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 200 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 88 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | | | | 98 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | | | | 47 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | | | | 209 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | | | | 44 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | | | | 99 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | | | | 99 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:619501 | VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | | | | 276 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | . | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | | | | 134 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | | | | 6 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | | | | 144 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:157973 | Congenital muscular dystrophy due to LMNA mutation | HP:0040283 - Occasional | | | 645 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | | | | 11 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | | | | 12 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | | | | 88 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | | | | 66 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYBPC1 CL E G H | 4604 | 7549 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 66 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:618436 | Arthrogryposis, distal, type 2B3 | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | | | | 93 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | | | | 217 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 48 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 48 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | | | | 82 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | | | | 43 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 494 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 452 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 27 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | | | | 544 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | NT5C2 CL E G H | 22978 | 8022 | OMIM:613162 | Spastic paraplegia 45, autosomal recessive | | | | 15 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | | | | 106 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | | | | 77 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | | | | 77 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | | | | 77 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:376 | Gordon syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040283 - Occasional | | | 77 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | | | | 133 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | | | | 186 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PLOD2 CL E G H | 5352 | 9082 | ORPHA:2771 | Bruck syndrome | | | | 45 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | | | | 45 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | | | | 79 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | . | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | | | | 6 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 53 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 1200 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | | | | 1200 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | | | | 1200 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | | | | 1200 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | | | | 180 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | | | | 49 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SHROOM4 CL E G H | 57477 | 29215 | ORPHA:85288 | X-linked intellectual disability, Stocco Dos Santos type | | | | 42 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | | | | 36 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SPECC1L CL E G H | 23384 | 29022 | OMIM:600251 | Facial clefting, oblique, 1 | | | | 6 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 20 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | | | | 14 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | | | | 1129 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TBX4 CL E G H | 9496 | 11603 | ORPHA:238578 | Familial clubfoot due to 17q23.1q23.2 microduplication | | | | 55 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | | | | 76 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | | | | 76 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | | | | 6 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 80 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | | | | 37 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | | | | 43 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 43 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | | | | 140 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 54 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | | | | 3 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 171 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | | | | 214 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 7128 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:401795 | Autosomal recessive spastic paraplegia type 59 | | | | 7 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | | | | 111 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | | | | 27 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040283 - Occasional | | | 13 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | | | | 52 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | | | | 5 | | |
HP:0005656 | HP:0001883 | Talipes | 1 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | HP:0040283 - Occasional | | | 89 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | HP:0040283 - Occasional | | | 49 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | . | | | 18 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | HP:0040282 - Frequent | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | . | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | . | | | 38 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040283 - Occasional | | | 38 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | HP:0040283 - Occasional | | | 29 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | HP:0040283 - Occasional | | | 29 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | B9D1 CL E G H | 27077 | 24123 | OMIM:614209 | Meckel syndrome, type 9 | . | | | 28 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | . | | | 46 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | . | | | 46 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | HP:0040283 - Occasional | | | 99 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 90 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | HP:0040281 - Very frequent | HP:0003577 - Congenital onset | | 247 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | . | | | 19 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | . | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COG4 CL E G H | 25839 | 18620 | ORPHA:85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | HP:0040281 - Very frequent | | | 67 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL1A2 CL E G H | 1278 | 2198 | OMIM:617821 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | HP:0040284 - Very rare | | | 243 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | . | | | 749 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 749 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | HP:0040284 - Very rare | | | 325 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 90 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | | | | 136 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | . | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CTH CL E G H | 1491 | 2501 | ORPHA:212 | Cystathioninuria | HP:0040283 - Occasional | | | 38 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DES CL E G H | 1674 | 2770 | OMIM:181400 | Scapuloperoneal syndrome, neurogenic, Kaeser type | . | | | 263 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | . | | | 44 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | . | | | 108 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | HP:0040283 - Occasional | | | 304 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | HP:0040283 - Occasional | | | 51 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | HP:0040283 - Occasional | | | 37 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ENTPD1 CL E G H | 953 | 3363 | OMIM:615683 | Spastic paraplegia 64, autosomal recessive | HP:0040283 - Occasional | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ERBB2 CL E G H | 2064 | 3430 | OMIM:619465 | VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2 | | | | 77 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | . | | | 83 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ERGIC1 CL E G H | 57222 | 29205 | OMIM:208100 | Arthrogryposis multiplex congenita, Neurogenic type | . | | | | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040283 - Occasional | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040283 - Occasional | | | 81 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0005656 | HP:0008124 | Talipes calcaneovarus | 2 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:2771 | Bruck syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FKBP10 CL E G H | 60681 | 18169 | OMIM:259450 | Bruck syndrome 1 | . | | | 61 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | HP:0040283 - Occasional | | | 184 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | HP:0040282 - Frequent | | | 233 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | HP:0040282 - Frequent | | | 233 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | . | | | 233 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | . | | | 177 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040282 - Frequent | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040282 - Frequent | | | 121 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | . | | | 86 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 108 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | . | | | 108 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 52 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040283 - Occasional | | | 52 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040283 - Occasional | | | 52 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | HP:0040282 - Frequent | | | 52 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:610017 | Multiple synostoses syndrome 2 | HP:0040283 - Occasional | | | 52 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040281 - Very frequent | | | 270 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040283 - Occasional | | | 240 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | HP:0040284 - Very rare | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | . | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040282 - Frequent | | | 11 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | . | | | 98 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | HP:0040281 - Very frequent | | | 47 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040282 - Frequent | | | 345 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | . | | | 345 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | HP:0040283 - Occasional | | | 209 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 44 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 99 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040282 - Frequent | | | 141 | | |
HP:0005656 | HP:0008124 | Talipes calcaneovarus | 2 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | . | | | 81 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | . | | | 81 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | HP:0040283 - Occasional | | | 81 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:619501 | VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG | | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | HP:0040283 - Occasional | | | 276 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | . | | | 134 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 92 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | . | | | 6 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0005656 | HP:0008124 | Talipes calcaneovarus | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | HP:0040283 - Occasional | | | 74 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 12 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | . | | | 88 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | . | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | | | | 66 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYH3 CL E G H | 4621 | 7573 | OMIM:618436 | Arthrogryposis, distal, type 2B3 | . | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | . | | | 93 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040282 - Frequent | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | HP:0040283 - Occasional | | | 217 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | | | | 82 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 4 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040282 - Frequent | | | 118 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | NT5C2 CL E G H | 22978 | 8022 | OMIM:613162 | Spastic paraplegia 45, autosomal recessive | HP:0040283 - Occasional | | | 15 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | . | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | . | | | 106 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | . | | | 11 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | | | | 77 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | | | | 77 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040282 - Frequent | | | 105 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PLOD2 CL E G H | 5352 | 9082 | ORPHA:2771 | Bruck syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | . | | | 45 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | . | | | 79 | | |
HP:0005656 | HP:0008124 | Talipes calcaneovarus | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040283 - Occasional | | | 79 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | . | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | HP:0040283 - Occasional | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | HP:0040283 - Occasional | | | 49 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SHROOM4 CL E G H | 57477 | 29215 | ORPHA:85288 | X-linked intellectual disability, Stocco Dos Santos type | HP:0040282 - Frequent | | | 42 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | . | | | 36 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040282 - Frequent | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | . | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040282 - Frequent | | | 166 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040283 - Occasional | | | 15 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040282 - Frequent | | | 109 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | SPECC1L CL E G H | 23384 | 29022 | OMIM:600251 | Facial clefting, oblique, 1 | . | | | 6 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 20 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040282 - Frequent | | | 237 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | HP:0040283 - Occasional | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TBX4 CL E G H | 9496 | 11603 | ORPHA:238578 | Familial clubfoot due to 17q23.1q23.2 microduplication | HP:0040281 - Very frequent | | | 55 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | HP:0040283 - Occasional | | | 76 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | HP:0040283 - Occasional | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0005656 | HP:0001772 | Talipes equinovalgus | 2 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | . | | | 43 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | . | | | 43 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 140 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | . | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | . | | | 3 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | USP8 CL E G H | 9101 | 12631 | ORPHA:401795 | Autosomal recessive spastic paraplegia type 59 | HP:0040282 - Frequent | | | 7 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040282 - Frequent | | | 111 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | | | | 111 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0005656 | HP:0001884 | Talipes calcaneovalgus | 2 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | . | | | 52 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0005656 | HP:0001762 | Talipes equinovarus | 2 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040281 - Very frequent | | | 5 | | |
HP:0005656 | HP:0005850 | Congenital talipes calcaneovalgus | 3 | CL E G H | | | | | | | | | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | | | | 749 | | |
HP:0005656 | HP:0004696 | Talipes cavus equinovarus | 3 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | HP:0040282 - Frequent | | | 136 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | | | | 5 | | |
HP:0005656 | HP:0004696 | Talipes cavus equinovarus | 3 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0005656 | HP:0004696 | Talipes cavus equinovarus | 3 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | . | | | | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040282 - Frequent | | | 166 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | | | | 1129 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0005656 | HP:0004696 | Talipes cavus equinovarus | 3 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | | | | 111 | | |
HP:0005656 | HP:0001776 | Bilateral talipes equinovarus | 3 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |