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Disease Ontology Browser
Griscelli syndrome type 1 (DOID:0060832)
Synonyms: Griscelli syndrome with neurological impairment; Griscelli syndrome, cutaneous and neurological type; Griscelli-Pruniras syndrome type 1; GS1; hypopigmentation-neurologic impairment syndrome
Alt IDs: OMIM:214450, ICD10CM:E70.3, MESH:C537301, ORDO:381, 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory