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:
Fragmented epiphyses of the upper limbs (HP:0003841)

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

Parent Node:
Fragmentation of the epiphyses of the proximal phalanges of the hand (HP:0010272)

Parent Node:
Fragmentation of the metacarpal epiphyses (HP:0009189)

..Starting node
..Fragmentation of the epiphysis of the 1st metacarpal (HP:0010019)

Term ID:

10019

Name:

Fragmentation of the epiphysis of the 1st metacarpal

Synonym:

Fragmentation of the end part of the 1st long bone of hand

Definition:

Epiphysis of the 1st metacarpal having multiple bony fragments.

Comments:

Reference:

HP:0010019

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:0010019	HP:0010019	Fragmentation of the epiphysis of the 1st metacarpal	0	CL E G H
HP:0010019	HP:0041197	Fractured proximal epiphysis of first metacarpal bone	1	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.