Search Ontology:
Human Disease

Gaucher's disease type IIIC

Term ID
DOID:0112250
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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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