Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
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, Rodríguez 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	ORPHA:280	Wolf-Hirschhorn syndrome			1
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	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	OMIM:602398	DESMOSTEROLOSIS			72
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	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	ORPHA:280	Wolf-Hirschhorn syndrome			118
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	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, Rodríguez 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: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: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	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: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: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: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: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	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	OMIM:100100	Prune belly syndrome	.		4
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: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	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	OMIM:194190	Wolf-Hirschhorn syndrome			1
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	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	OMIM:194190	Wolf-Hirschhorn syndrome			2
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	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:0001762	Talipes equinovarus	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
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	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: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: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: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: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	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
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	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.		81
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	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	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
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	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:0001772	Talipes equinovalgus	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: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: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	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	ORPHA:2886	TARP syndrome	HP:0040281 - Very frequent		16
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	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, Rodríguez 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	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional		15
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	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:0001762	Talipes equinovarus	2	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.		43
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	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