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DO Term : Griscelli syndrome type 3 [DOID:0060834] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes.

synonyms:
Griscelli-Prunieras syndrome type 3,
MESH:C537303,
609227,
GARD:9715,
GS3,
UMLS_CUI:C1836573,
OMIM:609227,
ORDO:79478,
SNOMEDCT_US_2023_03_01:1254947002

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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