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

Xenbase Genes : myo5a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008962 - Griscelli syndrome type 1

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

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