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:
Absent epiphyses (HP:0010577)

..Starting node
..Absent metacarpal epiphyses (HP:0009196)

Term ID:

9196

Name:

Absent metacarpal epiphyses

Synonym:

Absent end part of the long bone of hand; Absent metacarpal ossification center; Absent metacarpal ossification centre

Definition:

Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.

Comments:

Reference:

HP:0009196

Genes and Diseases:

Child Nodes:

........

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

Sister Nodes:

Absent epiphyses of the phalanges of the hand (HP:0010228)

Absent epiphyses of the toes (HP:0010162)

Absent knee epiphyses (HP:0006400)

Absent proximal radial epiphyses (HP:0005093)

Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009196	HP:0009196	Absent metacarpal epiphyses	0	CL E G H
HP:0009196	HP:0010015	Absent 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.