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:0002803	HP:0002803	Congenital contracture	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002803	HP:0002803	Congenital contracture	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002803	HP:0002803	Congenital contracture	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0002803	HP:0002803	Congenital contracture	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0002803	HP:0002803	Congenital contracture	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0002803	HP:0002803	Congenital contracture	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0002803	HP:0002803	Congenital contracture	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0002803	HP:0002803	Congenital contracture	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0002803	HP:0002803	Congenital contracture	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0002803	HP:0002803	Congenital contracture	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0002803	HP:0002803	Congenital contracture	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0002803	HP:0002803	Congenital contracture	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002803	HP:0002803	Congenital contracture	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002803	HP:0002803	Congenital contracture	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0002803	HP:0002803	Congenital contracture	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0002803	HP:0002803	Congenital contracture	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0002803	HP:0002803	Congenital contracture	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0002803	HP:0002803	Congenital contracture	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002803	HP:0002803	Congenital contracture	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0002803	HP:0002803	Congenital contracture	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002803	HP:0002803	Congenital contracture	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0002803	HP:0002803	Congenital contracture	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0002803	HP:0002803	Congenital contracture	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0002803	HP:0002803	Congenital contracture	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0002803	HP:0002803	Congenital contracture	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0002803	HP:0002803	Congenital contracture	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0002803	HP:0002803	Congenital contracture	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0002803	HP:0002803	Congenital contracture	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002803	HP:0002803	Congenital contracture	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0002803	HP:0002803	Congenital contracture	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0002803	HP:0002803	Congenital contracture	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0002803	HP:0002803	Congenital contracture	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0002803	HP:0002803	Congenital contracture	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002803	HP:0002803	Congenital contracture	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0002803	HP:0002803	Congenital contracture	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0002803	HP:0002803	Congenital contracture	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0002803	HP:0002803	Congenital contracture	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0002803	HP:0002803	Congenital contracture	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0002803	HP:0002803	Congenital contracture	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0002803	HP:0002803	Congenital contracture	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0002803	HP:0002803	Congenital contracture	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002803	HP:0002803	Congenital contracture	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0002803	HP:0002803	Congenital contracture	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0002803	HP:0002803	Congenital contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002803	HP:0002803	Congenital contracture	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002803	HP:0002803	Congenital contracture	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0002803	HP:0002803	Congenital contracture	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0002803	HP:0002803	Congenital contracture	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0002803	HP:0002803	Congenital contracture	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0002803	HP:0002803	Congenital contracture	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0002803	HP:0002803	Congenital contracture	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0002803	HP:0002803	Congenital contracture	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0002803	HP:0002803	Congenital contracture	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0002803	HP:0002803	Congenital contracture	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0002803	HP:0002803	Congenital contracture	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0002803	HP:0002803	Congenital contracture	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0002803	HP:0002803	Congenital contracture	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0002803	HP:0002803	Congenital contracture	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0002803	HP:0002803	Congenital contracture	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0002803	HP:0002803	Congenital contracture	0	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type	.
HP:0002803	HP:0002803	Congenital contracture	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0002803	HP:0002803	Congenital contracture	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002803	HP:0002803	Congenital contracture	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002803	HP:0002803	Congenital contracture	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002803	HP:0002803	Congenital contracture	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0002803	HP:0002803	Congenital contracture	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0002803	HP:0002803	Congenital contracture	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002803	HP:0002803	Congenital contracture	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0002803	HP:0002803	Congenital contracture	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0002803	HP:0002803	Congenital contracture	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0002803	HP:0002803	Congenital contracture	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0002803	HP:0002803	Congenital contracture	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0002803	HP:0002803	Congenital contracture	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002803	HP:0002803	Congenital contracture	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002803	HP:0002803	Congenital contracture	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002803	HP:0002803	Congenital contracture	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0002803	HP:0002803	Congenital contracture	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0002803	HP:0002803	Congenital contracture	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0002803	HP:0002803	Congenital contracture	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0002803	HP:0002803	Congenital contracture	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0002803	HP:0002803	Congenital contracture	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0002803	HP:0002803	Congenital contracture	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002803	HP:0002803	Congenital contracture	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002803	HP:0002803	Congenital contracture	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0002803	HP:0002803	Congenital contracture	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0002803	HP:0002803	Congenital contracture	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002803	HP:0002803	Congenital contracture	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0002803	HP:0002803	Congenital contracture	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0002803	HP:0002803	Congenital contracture	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0002803	HP:0002803	Congenital contracture	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002803	HP:0002803	Congenital contracture	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0002803	HP:0002803	Congenital contracture	0	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0002803	HP:0002803	Congenital contracture	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0002803	HP:0002803	Congenital contracture	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0002803	HP:0002803	Congenital contracture	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0002803	HP:0002803	Congenital contracture	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0002803	HP:0002803	Congenital contracture	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0002803	HP:0002803	Congenital contracture	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0002803	HP:0002803	Congenital contracture	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0002803	HP:0002803	Congenital contracture	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0002803	HP:0002803	Congenital contracture	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0002803	HP:0002803	Congenital contracture	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002803	HP:0002803	Congenital contracture	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0002803	HP:0002803	Congenital contracture	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0002803	HP:0002803	Congenital contracture	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0002803	HP:0002803	Congenital contracture	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0002803	HP:0002803	Congenital contracture	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0002803	HP:0002803	Congenital contracture	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0002803	HP:0002803	Congenital contracture	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0002803	HP:0002803	Congenital contracture	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0002803	HP:0002803	Congenital contracture	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0002803	HP:0002803	Congenital contracture	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0002803	HP:0002803	Congenital contracture	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0002803	HP:0002803	Congenital contracture	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0002803	HP:0002803	Congenital contracture	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0002803	HP:0002803	Congenital contracture	0	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0002803	HP:0002803	Congenital contracture	0	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4			66
HP:0002803	HP:0002803	Congenital contracture	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.		105
HP:0002803	HP:0002803	Congenital contracture	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0002803	HP:0002803	Congenital contracture	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0002803	HP:0002803	Congenital contracture	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0002803	HP:0002803	Congenital contracture	0	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0002803	HP:0002803	Congenital contracture	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0002803	HP:0002803	Congenital contracture	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002803	HP:0002803	Congenital contracture	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002803	HP:0002803	Congenital contracture	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0002803	HP:0002803	Congenital contracture	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0002803	HP:0002803	Congenital contracture	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0002803	HP:0002803	Congenital contracture	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0002803	HP:0002803	Congenital contracture	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0002803	HP:0002803	Congenital contracture	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0002803	HP:0002803	Congenital contracture	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0002803	HP:0002803	Congenital contracture	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0002803	HP:0002803	Congenital contracture	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0002803	HP:0002803	Congenital contracture	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0002803	HP:0002803	Congenital contracture	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0002803	HP:0002803	Congenital contracture	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002803	HP:0002803	Congenital contracture	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0002803	HP:0002803	Congenital contracture	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002803	HP:0002803	Congenital contracture	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002803	HP:0002803	Congenital contracture	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002803	HP:0002803	Congenital contracture	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0002803	HP:0002803	Congenital contracture	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0002803	HP:0002803	Congenital contracture	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0002803	HP:0002803	Congenital contracture	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0002803	HP:0002803	Congenital contracture	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0002803	HP:0002803	Congenital contracture	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0002803	HP:0002803	Congenital contracture	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0002803	HP:0002803	Congenital contracture	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002803	HP:0002803	Congenital contracture	0	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0002803	HP:0002803	Congenital contracture	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0002803	HP:0002803	Congenital contracture	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0002803	HP:0002803	Congenital contracture	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0002803	HP:0002803	Congenital contracture	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0002803	HP:0002803	Congenital contracture	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0002803	HP:0002803	Congenital contracture	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0002803	HP:0002803	Congenital contracture	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0002803	HP:0002803	Congenital contracture	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0002803	HP:0002803	Congenital contracture	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0002803	HP:0002803	Congenital contracture	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0002803	HP:0002803	Congenital contracture	0	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0002803	HP:0002803	Congenital contracture	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0002803	HP:0002803	Congenital contracture	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0002803	HP:0002803	Congenital contracture	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0002803	HP:0002803	Congenital contracture	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002803	HP:0002803	Congenital contracture	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002803	HP:0002803	Congenital contracture	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0002803	HP:0002803	Congenital contracture	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002803	HP:0002803	Congenital contracture	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002803	HP:0002803	Congenital contracture	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002803	HP:0002803	Congenital contracture	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0002803	HP:0002803	Congenital contracture	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0002803	HP:0002803	Congenital contracture	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002803	HP:0002803	Congenital contracture	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002803	HP:0002803	Congenital contracture	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0002803	HP:0002803	Congenital contracture	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0002803	HP:0002803	Congenital contracture	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002803	HP:0002803	Congenital contracture	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002803	HP:0002803	Congenital contracture	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0002803	HP:0002803	Congenital contracture	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0002803	HP:0002803	Congenital contracture	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0002803	HP:0002803	Congenital contracture	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002803	HP:0002803	Congenital contracture	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0002803	HP:0002803	Congenital contracture	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0002803	HP:0002803	Congenital contracture	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002803	HP:0002803	Congenital contracture	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0002803	HP:0002803	Congenital contracture	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002803	HP:0002803	Congenital contracture	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0002803	HP:0002803	Congenital contracture	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0002803	HP:0002803	Congenital contracture	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0002803	HP:0002803	Congenital contracture	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002803	HP:0002803	Congenital contracture	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0002803	HP:0002803	Congenital contracture	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0002803	HP:0002803	Congenital contracture	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0002803	HP:0002803	Congenital contracture	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0002803	HP:0002803	Congenital contracture	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0002803	HP:0002803	Congenital contracture	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0002803	HP:0002803	Congenital contracture	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0002803	HP:0002803	Congenital contracture	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002803	HP:0002803	Congenital contracture	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0002803	HP:0002803	Congenital contracture	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0002803	HP:0002803	Congenital contracture	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0002803	HP:0002803	Congenital contracture	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0002803	HP:0002803	Congenital contracture	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0002803	HP:0002803	Congenital contracture	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0002803	HP:0002803	Congenital contracture	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002803	HP:0002803	Congenital contracture	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002803	HP:0002803	Congenital contracture	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002803	HP:0002803	Congenital contracture	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002803	HP:0002803	Congenital contracture	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0002803	HP:0002803	Congenital contracture	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0002803	HP:0002803	Congenital contracture	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0002803	HP:0002803	Congenital contracture	0	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.		1
HP:0002803	HP:0002803	Congenital contracture	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0002803	HP:0002803	Congenital contracture	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0002803	HP:0002803	Congenital contracture	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0002803	HP:0002803	Congenital contracture	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0002803	HP:0002803	Congenital contracture	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0002803	HP:0005684	Distal arthrogryposis	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		96
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		96
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.		2
HP:0002803	HP:0005684	Distal arthrogryposis	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare		37
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002803	HP:0005684	Distal arthrogryposis	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0002803	HP:0005853	Congenital foot contraction deformities	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040282 - Frequent		46
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0002803	HP:0005684	Distal arthrogryposis	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0002803	HP:0005684	Distal arthrogryposis	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	HP:0040284 - Very rare		9
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type	.
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002803	HP:0005684	Distal arthrogryposis	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0002803	HP:0005684	Distal arthrogryposis	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		61
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0002803	HP:0005745	Congenital foot contractures	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare		43
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.		45
HP:0002803	HP:0005684	Distal arthrogryposis	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		80
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional		4
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.		9
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040283 - Occasional		276
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		13
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		13
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002803	HP:0005684	Distal arthrogryposis	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	HP:0040284 - Very rare		63
HP:0002803	HP:0005684	Distal arthrogryposis	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040283 - Occasional
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	.		66
HP:0002803	HP:0005684	Distal arthrogryposis	1	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	HP:0040280 - Obligate		66
HP:0002803	HP:0005684	Distal arthrogryposis	1	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.		66
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0002803	HP:0005684	Distal arthrogryposis	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0002803	HP:0005684	Distal arthrogryposis	1	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0002803	HP:0005684	Distal arthrogryposis	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002803	HP:0005684	Distal arthrogryposis	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		217
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		745
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		745
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.		9
HP:0002803	HP:0005684	Distal arthrogryposis	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0002803	HP:0005684	Distal arthrogryposis	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.		11
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0002803	HP:0005684	Distal arthrogryposis	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0002803	HP:0005684	Distal arthrogryposis	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		45
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.		2
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.		6
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	HP:0040283 - Occasional		73
HP:0002803	HP:0005684	Distal arthrogryposis	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional		3
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040281 - Very frequent		92
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040280 - Obligate		2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	HP:0040283 - Occasional		9
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional		93
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040283 - Occasional		61
HP:0002803	HP:0005684	Distal arthrogryposis	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002803	HP:0005879	Congenital finger flexion contractures	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0002803	HP:0005684	Distal arthrogryposis	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		54
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		108
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		108
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040284 - Very rare		214
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002803	HP:0005684	Distal arthrogryposis	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0002803	HP:0005684	Distal arthrogryposis	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0002803	HP:0005745	Congenital foot contractures	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	HP:0003577 - Congenital onset	19
HP:0002803	HP:0005745	Congenital foot contractures	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0002803	HP:0002804	Arthrogryposis multiplex congenita	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040283 - Occasional		1
HP:0002803	HP:0005612	Arthrogryposis-like hand anomaly	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0002803	HP:0005612	Arthrogryposis-like hand anomaly	2	REEP1 CL E G H	65055	25786	OMIM:620011				87