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Gaucher disease type III

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
Uniprot Description A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2.
Mondo Term and Equivalent IDs
MONDO:0009267:  Gaucher disease type III
GARD:0002443: 
Orphanet:77261: 
SCTID:5963005: