Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Flexion contracture (HP:0001371)

Parent Node:
Congenital contracture (HP:0002803)

..Starting node
..Arthrogryposis multiplex congenita (HP:0002804)

Term ID:

2804

Name:

Arthrogryposis multiplex congenita

Synonym:

Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures

Definition:

Multiple congenital contractures in different body areas.

Comments:

Reference:

HP:0002804

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital finger flexion contractures (HP:0005879)

Congenital foot contraction deformities (HP:0005853)

Congenital foot contractures (HP:0005745)

Distal arthrogryposis (HP:0005684)

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:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		96
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		96
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.		2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare		37
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	HP:0040284 - Very rare		9
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type	.
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		61
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare		43
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.		45
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		80
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.		9
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040283 - Occasional		276
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		13
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		13
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	HP:0040284 - Very rare		63
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040283 - Occasional
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	.		66
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		217
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		745
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		745
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.		9
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.		11
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		45
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.		2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	HP:0040283 - Occasional		73
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional		3
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040281 - Very frequent		92
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040280 - Obligate		2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	HP:0040283 - Occasional		9
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional		93
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040283 - Occasional		61
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	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:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		54
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		108
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		108
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040284 - Very rare		214
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	HP:0003577 - Congenital onset	19
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0002804	HP:0002804	Arthrogryposis multiplex congenita	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040283 - Occasional		1

Genes (127) :ABCC8 ACTA1 ADCY6 AGRN AGTPBP1 AIMP1 ALG3 ASCC1 AUTS2 BICD2 BLTP1 CACNA1E CDK5 CEP55 CFL2 CHAT CHMP1A CHRNA1 CHRNE CHRNG CHST14 CLCN3 CNTNAP1 COL13A1 DHCR24 DOK7 DSE ERBB3 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 EXOC7 EXOSC3 EXOSC8 EXOSC9 FAM20C FBN2 FKBP10 GBA1 GBE1 GCK GFM2 GFPT1 GLE1 GNB2 GNPTAB HSPG2 IBA57 INS ITGB4 KAT6B KBTBD13 KCNJ11 KIDINS220 KIF14 KIF1A KIF5C KLHL40 KLHL41 LAMA5 LGI4 LMNA LMOD3 LZTR1 MAGEL2 MTRFR MUSK MYBPC1 MYH3 MYH8 MYO9A MYOD1 MYPN NEB NEK9 NUP88 OTUD5 PDX1 PI4KA PIEZO2 PIGS PIP5K1C PLEC PLOD2 PLXND1 PPP3CA RAPSN REV3L RFT1 RIPK4 SCYL2 SHPK SLC18A3 SLC25A1 SLC25A46 SLC35A3 SLC5A7 SLC6A9 SLC9A6 SMPD4 SNAP25 SOX10 STAC3 STAT3 SYNE1 SYT2 TBCD TNNI2 TOR1A TPM2 TPM3 TRIP13 TRIP4 TRPV4 TSEN54 TUBA1A UBA1 VAMP1 VIPAS39 VPS33B VRK1 ZC4H2 ZMPSTE24 ZNF335 ZNHIT3

Diseases (116) :ORPHA:99885 ORPHA:171439 ORPHA:171433 OMIM:161800 ORPHA:171430 ORPHA:171436 OMIM:616287 ORPHA:98914 ORPHA:2254 OMIM:260600 ORPHA:79321 OMIM:601110 OMIM:616867 ORPHA:352490 OMIM:615834 OMIM:618291 OMIM:617822 OMIM:618285 OMIM:616342 OMIM:236500 OMIM:254210 OMIM:614961 OMIM:608930 OMIM:608931 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 OMIM:619512 OMIM:616286 OMIM:618186 OMIM:602398 ORPHA:994 OMIM:607598 OMIM:243180 OMIM:610758 ORPHA:1466 OMIM:616570 OMIM:214150 OMIM:208100 OMIM:619072 OMIM:259775 ORPHA:115 ORPHA:2771 ORPHA:85212 OMIM:608013 OMIM:232500 OMIM:618397 OMIM:611890 OMIM:253310 OMIM:619503 OMIM:252500 ORPHA:800 OMIM:615330 OMIM:226730 ORPHA:85201 OMIM:619501 OMIM:616258 ORPHA:2836 OMIM:615282 OMIM:615731 OMIM:620076 OMIM:617468 ORPHA:1662 OMIM:616165 OMIM:605275 OMIM:615547 ORPHA:320375 OMIM:208150 OMIM:614335 OMIM:178110 OMIM:158300 OMIM:619334 OMIM:256030 OMIM:614262 OMIM:618393 OMIM:301056 OMIM:616531 OMIM:114300 OMIM:108145 ORPHA:2461 OMIM:618143 OMIM:611369 ORPHA:570 OMIM:618265 OMIM:616326 ORPHA:244310 OMIM:263650 OMIM:618766 ORPHA:440713 OMIM:615553 OMIM:617143 OMIM:617301 ORPHA:85278 OMIM:618622 OMIM:609136 ORPHA:163746 ORPHA:168572 OMIM:618484 ORPHA:319332 ORPHA:496641 OMIM:617193 OMIM:601680 OMIM:618947 OMIM:108120 OMIM:617598 OMIM:616866 OMIM:156530 OMIM:600175 ORPHA:166063 ORPHA:1145 OMIM:301830 OMIM:613404 OMIM:208085 OMIM:314580 OMIM:615095

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

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