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
..Distal arthrogryposis (HP:0005684)

Term ID:

5684

Name:

Distal arthrogryposis

Synonym:

Definition:

An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.

Comments:

Reference:

HP:0005684

Genes and Diseases:

Child Nodes:

........

Arthrogryposis-like hand anomaly (HP:0005612)

Sister Nodes:

Arthrogryposis multiplex congenita (HP:0002804)

Congenital finger flexion contractures (HP:0005879)

Congenital foot contraction deformities (HP:0005853)

Congenital foot contractures (HP:0005745)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005684	HP:0005684	Distal arthrogryposis	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0005684	HP:0005684	Distal arthrogryposis	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0005684	HP:0005684	Distal arthrogryposis	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0005684	HP:0005684	Distal arthrogryposis	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0005684	HP:0005684	Distal arthrogryposis	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0005684	HP:0005684	Distal arthrogryposis	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0005684	HP:0005684	Distal arthrogryposis	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0005684	HP:0005684	Distal arthrogryposis	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0005684	HP:0005684	Distal arthrogryposis	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0005684	HP:0005684	Distal arthrogryposis	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0005684	HP:0005684	Distal arthrogryposis	0	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	HP:0040280 - Obligate	66
HP:0005684	HP:0005684	Distal arthrogryposis	0	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.	66
HP:0005684	HP:0005684	Distal arthrogryposis	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.	93
HP:0005684	HP:0005684	Distal arthrogryposis	0	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT		93
HP:0005684	HP:0005684	Distal arthrogryposis	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0005684	HP:0005684	Distal arthrogryposis	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0005684	HP:0005684	Distal arthrogryposis	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0005684	HP:0005684	Distal arthrogryposis	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0005684	HP:0005684	Distal arthrogryposis	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0005684	HP:0005684	Distal arthrogryposis	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0005684	HP:0005684	Distal arthrogryposis	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0005684	HP:0005684	Distal arthrogryposis	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0005684	HP:0005684	Distal arthrogryposis	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0005684	HP:0005684	Distal arthrogryposis	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0005684	HP:0005684	Distal arthrogryposis	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0005684	HP:0005612	Arthrogryposis-like hand anomaly	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0005684	HP:0005612	Arthrogryposis-like hand anomaly	1	REEP1 CL E G H	65055	25786	OMIM:620011			87

Genes (21) :ACADM ADGRG1 ATAD1 CCDC47 CHST14 FBN2 FIG4 GLI3 LGI4 MED13L MYBPC1 MYH8 MYO9A MYOD1 NRCAM PI4KA PIEZO2 REEP1 SRPX2 TNNI2 YY1

Diseases (23) :ORPHA:42 ORPHA:98889 OMIM:618011 OMIM:618268 OMIM:601776 OMIM:121050 OMIM:611228 ORPHA:672 OMIM:617468 ORPHA:369891 OMIM:614335 OMIM:614915 OMIM:158300 OMIM:608837 OMIM:618198 OMIM:618975 OMIM:619833 OMIM:114300 OMIM:108145 OMIM:620011 OMIM:601680 ORPHA:506358 OMIM:617557

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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