Summary Literature (0)

DOID:0060832 - Griscelli syndrome type 1

Disease Ontology Definition:A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.

Synonyms: GS1, Griscelli syndrome with neurological impairment, Griscelli syndrome, cutaneous and neurological type, Griscelli-Prunieras syndrome type 1, Griscelli-Pruniéras syndrome type 1, hypopigmentation-neurologic impairment syndrome,

Echinobase Genes :


OMIM:

MIM:214450 - griscelli syndrome, type 1; gs1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee