Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Absent epiphyses (HP:0010577)

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

Parent Node:
Absent epiphyses of the proximal phalanges of the hand (HP:0010268)

Parent Node:
Absent metacarpal epiphyses (HP:0009196)

..Starting node
..Absent epiphysis of the 1st metacarpal (HP:0010015)

Term ID:

10015

Name:

Absent epiphysis of the 1st metacarpal

Synonym:

Absent end part of the 1st long bone of hand

Definition:

Comments:

Reference:

HP:0010015

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010015	HP:0010015	Absent epiphysis of the 1st metacarpal	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.