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 metacarpal epiphysis morphology (HP:0005913)

Grandparent Node:
Cone-shaped epiphysis (HP:0010579)

Parent Node:
Abnormality of the epiphysis of the 1st metacarpal (HP:0010014)

Parent Node:
Cone-shaped epiphyses of the proximal phalanges of the hand (HP:0010270)

Parent Node:
Cone-shaped metacarpal epiphyses (HP:0006059)

..Starting node
..Cone-shaped epiphysis of the 1st metacarpal (HP:0010017)

Term ID:

10017

Name:

Cone-shaped epiphysis of the 1st metacarpal

Synonym:

Cone-shaped end part of the 1st long bone of hand

Definition:

A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.

Comments:

Reference:

HP:0010017

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:0010017	HP:0010017	Cone-shaped epiphysis of the 1st metacarpal	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia	44

Genes (1) :IHH

Diseases (1) :OMIM:607778

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