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:
Abnormality of joint mobility (HP:0011729)

Parent Node:
Joint hypermobility (HP:0001382)

..Starting node
..Hyperextensibility at wrists (HP:0005072)

Term ID:

5072

Name:

Hyperextensibility at wrists

Synonym:

Increased laxity of wrists; Increased wrist mobility

Definition:

The ability of the wrist joints to move beyond their normal range of motion.

Comments:

Reference:

HP:0005072

Genes and Diseases:

Child Nodes:

Sister Nodes:

Finger joint hypermobility (HP:0006094)

Generalized joint laxity (HP:0002761)

Hip joint hypermobility (HP:0045087)

Hyperextensibility at elbow (HP:0010485)

Hyperextensible hand joints (HP:0005639)

Hypermobility of interphalangeal joints (HP:0005620)

Joint hyperflexibility (HP:0005692)

Knee joint hypermobility (HP:0045086)

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:0005072	HP:0005072	Hyperextensibility at wrists	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0005072	HP:0005072	Hyperextensibility at wrists	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional

Genes (7) :COL12A1 COL6A1 COL6A2 COL6A3 HYAL1 PYCR2 RNF13

Diseases (5) :ORPHA:75840 OMIM:254090 OMIM:601492 ORPHA:481152 ORPHA:544503

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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