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:
Abnormal phalangeal joint morphology of the hand (HP:0006261)

Grandparent Node:
Osteoarthritis (HP:0002758)

Parent Node:
Osteoarthritis of the small joints of the hand (HP:0004268)

..Starting node
..Osteoarthritis of the first carpometacarpal joint (HP:0006226)

Term ID:

6226

Name:

Osteoarthritis of the first carpometacarpal joint

Synonym:

Definition:

Comments:

Reference:

HP:0006226

Genes and Diseases:

Child Nodes:

Sister Nodes:

Osteoarthritis of the distal interphalangeal joint (HP:0006233)

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:0006226	HP:0006226	Osteoarthritis of the first carpometacarpal joint	0	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.	2

Genes (1) :ASPN

Diseases (1) :OMIM:607850

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