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:
Irregular epiphyses (HP:0010582)

Parent Node:
Abnormality of the epiphyses of the 3rd toe (HP:0010329)

Parent Node:
Irregular epiphyses of the toes (HP:0010167)

..Starting node
..Irregular epiphyses of the 3rd toe (HP:0100060)

Term ID:

100060

Name:

Irregular epiphyses of the 3rd toe

Synonym:

Irregular end part of the 3rd toe bone

Definition:

Comments:

Reference:

HP:0100060

Genes and Diseases:

Child Nodes:

........

Irregular epiphysis of the distal phalanx of the 3rd toe (HP:0100140)

........

Irregular epiphysis of the middle phalanx of the 3rd toe (HP:0100151)

........

Irregular epiphysis of the proximal phalanx of the 3rd toe (HP:0100162)

Sister Nodes:

Irregular epiphyses of the 2nd toe (HP:0100049)

Irregular epiphyses of the 4th toe (HP:0100071)

Irregular epiphyses of the 5th toe (HP:0100082)

Irregular epiphyses of the hallux (HP:0010118)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100060	HP:0100060	Irregular epiphyses of the 3rd toe	0	CL E G H
HP:0100060	HP:0100151	Irregular epiphysis of the middle phalanx of the 3rd toe	1	CL E G H
HP:0100060	HP:0100140	Irregular epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100060	HP:0100162	Irregular epiphysis of the proximal phalanx of the 3rd 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.