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

..Starting node
..Hand pain (HP:0046505)

Term ID:

46505

Name:

Hand pain

Synonym:

Definition:

An unpleasant sensation characterized by physical discomfort localized to the hand.

Comments:

Reference:

HP:0046505

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0046505	HP:0046505	Hand pain	0	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2	89
HP:0046505	HP:0046505	Hand pain	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	115
HP:0046505	HP:0030837	Finger pain	1	CL E G H

Genes (2) :COMP IDUA

Diseases (2) :OMIM:619161 OMIM:607015

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