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 the metacarpal bones (HP:0001163)

Parent Node:
Supernumerary metacarpal bones (HP:0005917)

..Starting node
..Double first metacarpals (HP:0005894)

Term ID:

5894

Name:

Double first metacarpals

Synonym:

Double 1st long bones of hand

Definition:

Duplication of the metacarpal I bones.

Comments:

Reference:

HP:0005894

Genes and Diseases:

Child Nodes:

Sister Nodes:

6 metacarpals (HP:0001501)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005894	HP:0005894	Double first metacarpals	0	CL E G H

Genes (0) :

Diseases (0) :

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