Term Name: | Griscelli syndrome type 2 |
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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 |
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. |
Ontology: | Human Disease [DOID:0060833] ( DOID:0060833 ) |