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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-Prunieras syndrome type 2, Griscelli-Pruniéras syndrome type 2, PAID syndrome, hypopigmentation-immunodeficiency with or without neurologic impairment syndrome, partial albinism and immunodeficiency syndrome,
Xenbase Genes
:
rab27a
| MONDO:0011872 - Griscelli syndrome type 2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Griscelli syndrome (is_a)