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:
Absent epiphyses (HP:0010577)

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

Parent Node:
Absent epiphyses of the toes (HP:0010162)

..Starting node
..Absent epiphyses of the 3rd toe (HP:0100055)

Term ID:

100055

Name:

Absent epiphyses of the 3rd toe

Synonym:

Absent end part of the 3rd toe

Definition:

Comments:

Reference:

HP:0100055

Genes and Diseases:

Child Nodes:

........

Absent epiphysis of the distal phalanx of the 3rd toe (HP:0100135)

........

Absent epiphysis of the middle phalanx of the 3rd toe (HP:0100146)

........

Absent epiphysis of the proximal phalanx of the 3rd toe (HP:0100157)

Sister Nodes:

Absent epiphyses of the 2nd toe (HP:0100044)

Absent epiphyses of the 4th toe (HP:0100066)

Absent epiphyses of the 5th toe (HP:0100077)

Absent hallux epiphysis (HP:0010113)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100055	HP:0100055	Absent epiphyses of the 3rd toe	0	CL E G H
HP:0100055	HP:0100157	Absent epiphysis of the proximal phalanx of the 3rd toe	1	CL E G H
HP:0100055	HP:0100146	Absent epiphysis of the middle phalanx of the 3rd toe	1	CL E G H
HP:0100055	HP:0100135	Absent epiphysis of the distal 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.