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 epiphysis morphology (HP:0005930)

Parent Node:
Abnormal metacarpal epiphysis morphology (HP:0005913)

Parent Node:
Small epiphyses (HP:0010585)

..Starting node
..Small epiphyses of the metacarpals (HP:0009194)

Term ID:

9194

Name:

Small epiphyses of the metacarpals

Synonym:

Small end part of the long bone of hand

Definition:

Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.

Comments:

Reference:

HP:0009194

Genes and Diseases:

Child Nodes:

........

Small epiphysis of the 1st metacarpal (HP:0010023)

Sister Nodes:

Small epiphyses of the phalanges of the hand (HP:0010236)

Small epiphyses of the toes (HP:0010170)

Small epiphyses of the upper limbs (HP:0003844)

Small proximal tibial epiphyses (HP:0012284)

Small radial epiphyses (HP:0004010)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009194	HP:0009194	Small epiphyses of the metacarpals	0	CL E G H
HP:0009194	HP:0010023	Small epiphysis of the 1st 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.