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 of the phalanges of the hand (HP:0005920)

Grandparent Node:
Bracket epiphyses (HP:0010578)

Parent Node:
Abnormality of thumb epiphysis (HP:0009599)

Parent Node:
Bracket epiphyses of the phalanges of the hand (HP:0010229)

..Starting node
..Bracket epiphyses of the thumb (HP:0009687)

Term ID:

9687

Name:

Bracket epiphyses of the thumb

Synonym:

Bracket shaped end part of the thumb bone

Definition:

An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.

Comments:

Reference:

HP:0009687

Genes and Diseases:

Child Nodes:

........

Bracket epiphysis of the proximal phalanx of the thumb (HP:0009665)

........

Bracket epiphysis of the distal phalanx of the thumb (HP:0009676)

Sister Nodes:

Bracket epiphyses of the 2nd finger (HP:0009489)

Bracket epiphyses of the 3rd finger (HP:0009411)

Bracket epiphyses of the 4th finger (HP:0009394)

Bracket epiphyses of the 5th finger (HP:0009383)

Bracket epiphyses of the distal phalanges of the hand (HP:0010247)

Bracket epiphyses of the middle phalanges of the hand (HP:0010258)

Bracket epiphyses of the proximal phalanges of the hand (HP:0010269)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009687	HP:0009687	Bracket epiphyses of the thumb	0	CL E G H
HP:0009687	HP:0009676	Bracket epiphysis of the distal phalanx of the thumb	1	CL E G H
HP:0009687	HP:0009665	Bracket epiphysis of the proximal phalanx of the thumb	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.

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