OBO ID: DOID:0112250
Term Name: Gaucher's disease type IIIC Search Ontology:
Synonyms:
  • cardiovascular Gaucher disease
  • Gaucher disease type 3C
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
  • Gaucher-like disease
  • GD3C
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. https://pubmed.ncbi.nlm.nih.gov/10636167/
References:
Ontology: Human Disease   ( DOID:0112250 )
OTHER Gaucher's disease type IIIC PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GBA Gaucher disease, type IIIC 231005
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None