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About: Gaucher's disease type IIIC     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Gaucher's disease type IIIC
described by
id
  • DOID:0112250
database_cross_reference
  • OMIM:231005
  • ORDO:2072
has_exact_synonym
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
  • GD3C
  • Gaucher disease type 3C
  • Gaucher-like disease
  • cardiovascular Gaucher disease
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 GBA on chromosome 1q22.
is topic of
is annotatedSource of
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