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:
Enlarged epiphyses (HP:0010580)

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

Parent Node:
Enlarged epiphyses of the toes (HP:0010165)

..Starting node
..Enlarged epiphyses of the 2nd toe (HP:0100047)

Term ID:

100047

Name:

Enlarged epiphyses of the 2nd toe

Synonym:

Enlarged end part of the 2nd toe bone

Definition:

Comments:

Reference:

HP:0100047

Genes and Diseases:

Child Nodes:

........

Enlarged epiphysis of the distal phalanx of the 2nd toe (HP:0100103)

........

Enlarged epiphysis of the middle phalanx of the 2nd toe (HP:0100114)

........

Enlarged epiphysis of the proximal phalanx of the 2nd toe (HP:0100125)

Sister Nodes:

Enlarged epiphyses of the 3rd toe (HP:0100058)

Enlarged epiphyses of the 4th toe (HP:0100069)

Enlarged epiphyses of the 5th toe (HP:0100080)

Enlarged epiphyses of the hallux (HP:0010116)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100047	HP:0100047	Enlarged epiphyses of the 2nd toe	0	CL E G H
HP:0100047	HP:0100125	Enlarged epiphysis of the proximal phalanx of the 2nd toe	1	CL E G H
HP:0100047	HP:0100114	Enlarged epiphysis of the middle phalanx of the 2nd toe	1	CL E G H
HP:0100047	HP:0100103	Enlarged 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.