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 epiphyses of the toes (HP:0010160)

Grandparent Node:
Bracket epiphyses (HP:0010578)

Parent Node:
Abnormality of the epiphyses of the 2nd toe (HP:0010323)

Parent Node:
Bracket epiphyses of the toes (HP:0010163)

..Starting node
..Bracket epiphyses of the 2nd toe (HP:0100045)

Term ID:

100045

Name:

Bracket epiphyses of the 2nd toe

Synonym:

Bracket shaped end part of 2nd toe bone

Definition:

Comments:

Reference:

HP:0100045

Genes and Diseases:

Child Nodes:

........

Bracket epiphysis of the distal phalanx of the 2nd toe (HP:0100101)

........

Bracket epiphysis of the middle phalanx of the 2nd toe (HP:0100112)

........

Bracket epiphysis of the proximal phalanx of the 2nd toe (HP:0100123)

Sister Nodes:

Bracket epiphyses of the 3rd toe (HP:0100056)

Bracket epiphyses of the 4th toe (HP:0100067)

Bracket epiphyses of the 5th toe (HP:0100078)

Bracket epiphyses of the hallux (HP:0010114)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100045	HP:0100045	Bracket epiphyses of the 2nd toe	0	CL E G H
HP:0100045	HP:0100123	Bracket epiphysis of the proximal phalanx of the 2nd toe	1	CL E G H
HP:0100045	HP:0100112	Bracket epiphysis of the middle phalanx of the 2nd toe	1	CL E G H
HP:0100045	HP:0100101	Bracket epiphysis of the distal phalanx of the 2nd toe	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.