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:
Abnormal 4th metacarpal morphology (HP:0010012)

..Starting node
..Abnormality of the epiphysis of the 4th metacarpal (HP:0010224)

Term ID:

10224

Name:

Abnormality of the epiphysis of the 4th metacarpal

Synonym:

Abnormality of the end part of the 4th long bone of hand

Definition:

Any abnormality of the epiphysis of the 4th metacarpal bone.

Comments:

Reference:

HP:0010224

Genes and Diseases:

Child Nodes:

........

Pseudoepiphysis of the 4th metacarpal (HP:0010225)

Sister Nodes:

Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)

Synostosis involving the 4th metacarpal (HP:0009707)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010224	HP:0010224	Abnormality of the epiphysis of the 4th metacarpal	0	CL E G H
HP:0010224	HP:0041192	Fractured epiphysis of fourth metacarpal bone	1	CL E G H
HP:0010224	HP:0010225	Pseudoepiphysis of the 4th metacarpal	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.