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Griscelli syndrome

Disease Summary
Associated Targets (7)
Tbio

7


GARD Rare
Mondo Description Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).
Disease Ontology Description An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.
Mondo Term and Equivalent IDs
MONDO:0018306:  Griscelli syndrome
DC:0000356: 
GARD:0010913: 
OMIMPS:214450: 
Orphanet:381: 
SCTID:37548006: 
UMLS:CN204933: