Griscelli syndrome type 2 (DOID:0060833)
Alliance: disease page
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.