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Gaucher disease type I

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
Uniprot Description A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
Mondo Term and Equivalent IDs
MONDO:0009265:  Gaucher disease type I
DOID:0110957: Gaucher's disease type I
GARD:0002441: 
OMIM:230800: GAUCHER DISEASE, TYPE I
Orphanet:77259: