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 3rd toe (HP:0010329)

Grandparent Node:
Epiphyseal stippling of toe phalanges (HP:0010171)

Parent Node:
Abnormality of the epiphysis of the proximal phalanx of the 3rd toe (HP:0100093)

Parent Node:
Stippling of the epiphyses of the 3rd toe (HP:0100064)

..Starting node
..Stippling of the epiphysis of the proximal phalanx of the 3rd toe (HP:0100166)

Term ID:

100166

Name:

Stippling of the epiphysis of the proximal phalanx of the 3rd toe

Synonym:

Speckled calcifications in of the end part of the innermost bone of the 3rd toe

Definition:

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.

Comments:

Reference:

HP:0100166

Genes and Diseases:

Child Nodes:

Sister Nodes:

Stippling of the epiphysis of the distal phalanx of the 3rd toe (HP:0100144)

Stippling of the epiphysis of the middle phalanx of the 3rd toe (HP:0100155)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100166	HP:0100166	Stippling of the epiphysis of the proximal phalanx of the 3rd toe	0	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.