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Metadata
DOID DOID:0060833
Name Griscelli syndrome type 2
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.
https://www.ncbi.nlm.nih.gov/pubmed/12452176, https://www.ncbi.nlm.nih.gov/pubmed/707528
Xrefs

GARD:4483

MESH:C537302

NCI:C111814

OMIM:607624

ORDO:79477

UMLS_CUI:C1868679

Subsets

NCIthesaurus

Synonyms

Griscelli syndrome with hemophagocytic syndrome [EXACT]

Griscelli-Pruni��ras syndrome type 2 [EXACT]

GS2 [EXACT]

hypopigmentation-immunodeficiency with or without neurologic impairment syndrome [EXACT]

PAID syndrome [EXACT]

partial albinism and immunodeficiency syndrome [EXACT]

Relationships

is_a Griscelli syndrome

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