Term Name: Griscelli syndrome type 2
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 )

Relationships
is a type of: Griscelli syndrome