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DOID:0112250 - Gaucher's disease type IIIC
Disease Ontology 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.
Synonyms: GD3C, Gaucher disease type 3C, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher-like disease, cardiovascular Gaucher disease,
Xenbase Genes
:
gba1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Gaucher's disease type III (is_a)