FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Gaucher's disease type IIIC ID (Ontology) DOID:0112250 (Human Disease)
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.
Also Known As "cardiovascular Gaucher disease" ; "Gaucher disease type 3C" ; "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" (for all, see Synonyms field below)
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 Genes
 Gaucher's disease type IIIC       2
 for disease ribbon | Gaucher's disease type IIIC       2
 model of | Gaucher's disease type IIIC       2
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autosomal recessive disease__
Gaucher's disease____________|
                             Gaucher's disease type III
                              |__Gaucher's disease type IIIC  2 rec.
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Is a Gaucher's disease type III
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Synonyms
  • "cardiovascular Gaucher disease" EXACT
    "Gaucher disease type 3C" EXACT
    "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT
    "Gaucher-like disease" EXACT
    "GD3C" EXACT OMO:0003012
Secondary IDs
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MIM:231005
ORDO:2072