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
..Hip joint hypermobility (HP:0045087)

Term ID:

45087

Name:

Hip joint hypermobility

Synonym:

Definition:

Comments:

Reference:

HP:0045087

Genes and Diseases:

Child Nodes:

Sister Nodes:

Finger joint hypermobility (HP:0006094)

Generalized joint laxity (HP:0002761)

Hyperextensibility at elbow (HP:0010485)

Hyperextensibility at wrists (HP:0005072)

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:0045087	HP:0045087	Hip joint hypermobility	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145

Genes (1) :FGFR3

Diseases (1) :ORPHA:15

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