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:
Hypopigmentation of the skin (HP:0001010)

Grandparent Node:
Localized skin lesion (HP:0011355)

Parent Node:
Hypopigmented skin patches (HP:0001053)

..Starting node
..Macular hypopigmented whorls, streaks, and patches (HP:0005593)

Term ID:

5593

Name:

Macular hypopigmented whorls, streaks, and patches

Synonym:

Definition:

Comments:

Reference:

HP:0005593

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypopigmented skin patches on arms (HP:0007526)

Spotty hypopigmentation (HP:0005590)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005593	HP:0005593	Macular hypopigmented whorls, streaks, and patches	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.