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PedAM

Pediatric Disease Annotations & Medicines




Disease splenomegaly
Phenotype C0017205|glucocerebrosidase deficiency
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PubMedID- 23386328 Type 1 gaucher disease (gd1), resulting from glucocerebrosidase deficiency, leads to splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone involvement.

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