Gaucher's disease type IIIC Disease Ontology Browser

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Disease Ontology Browser

Gaucher's disease type IIIC (DOID:0112250)
Alliance: disease page
Synonyms: cardiovascular Gaucher disease; Gaucher disease type 3C; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher-like disease; GD3C
Alt IDs: OMIM:231005, ORDO:2072
Definition: A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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