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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease gaucher disease
Comorbidity C0002871|anemia
Sentences 2
PubMedID- 23386328 Type 1 gaucher disease (gd1), resulting from glucocerebrosidase deficiency, leads to splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone involvement.
PubMedID- 23858612 We report a case of type 2 gaucher disease with severe hepatosplenomegaly, anemia, hypertonia, and psychomotor retardation.

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