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 2nd metacarpal morphology (HP:0010010)

Grandparent Node:
Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)

Parent Node:
Aplasia/Hypoplasia of the 2nd metacarpal (HP:0010036)

..Starting node
..Long second metacarpal (HP:0006040)

Term ID:

6040

Name:

Long second metacarpal

Synonym:

Long 2nd long bone of hand

Definition:

Comments:

Reference:

HP:0006040

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the 2nd metacarpal (HP:0010037)

Short 2nd metacarpal (HP:0010038)

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:0006040	HP:0006040	Long second metacarpal	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90

Genes (1) :RUNX2

Diseases (1) :OMIM:119600

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