Griscelli syndrome type 2
Ontology Term:
Status:
Live
Synonym:
GS2
Griscelli syndrome with hemophagocytic syndrome
Griscelli-Prunieras syndrome type 2
PAID syndrome
hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
partial albinism and immunodeficiency syndrome
Griscelli syndrome with hemophagocytic syndrome
Griscelli-Prunieras syndrome type 2
PAID syndrome
hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
partial albinism and immunodeficiency syndrome
Type:
Mapping to OMIM ID:
Comparative Info:
Learn more about this disease from studies in other model systems at the 
WormBase ID:
DOID:0060833
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.
Parent:
Child:
Associations based on experimental data:
Disease relevant gene:
