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:
Joint hypermobility (HP:0001382)

Parent Node:
Hyperextensible hand joints (HP:0005639)

..Starting node
..Hyperextensible thumb (HP:0005722)

Term ID:

5722

Name:

Hyperextensible thumb

Synonym:

Double jointed thumb

Definition:

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

Comments:

Reference:

HP:0005722

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005722	HP:0005722	Hyperextensible thumb	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27

Genes (1) :USP9X

Diseases (1) :ORPHA:480880

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