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Disease Ontology Browser
Griscelli syndrome type 2 (DOID:0060833)
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Synonyms: Griscelli syndrome with hemophagocytic syndrome; Griscelli-Prunieras syndrome type 2; GS2; hypopigmentation-immunodeficiency with or without neurologic impairment syndrome; PAID syndrome; partial albinism and immunodeficiency syndrome
Alt IDs: OMIM:607624, MESH:C537302, NCI:C111814, ORDO:79477, UMLS_CUI:C1868679
Definition: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.

Disease References using Mouse Models (1)
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
11/12/2024
MGI 6.24 		The Jackson Laboratory