Summary Literature (0)

DOID:0060833 - Griscelli syndrome type 2

Disease Ontology 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.

Synonyms: GS2, Griscelli syndrome with hemophagocytic syndrome, Griscelli-Pruniéras syndrome type 2, PAID syndrome, hypopigmentation-immunodeficiency with or without neurologic impairment syndrome, partial albinism and immunodeficiency syndrome,

Echinobase Genes : rab27a


OMIM:

MIM:607624 - griscelli syndrome, type 2; gs2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee