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Griscelli syndrome type 1 (DOID:0060832)
Alliance: disease page
Synonyms: Griscelli syndrome with neurological impairment; Griscelli syndrome, cutaneous and neurological type; Griscelli-Prunieras syndrome type 1; GS1; hypopigmentation-neurologic impairment syndrome
Alt IDs: OMIM:214450, MESH:C537301, ORDO:79476, UMLS_CUI:C1859194
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory