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Metadata
ID DOID:0112250
Name Gaucher's disease type IIIC
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/
Xrefs

OMIM:231005

ORDO:2072

Subsets

DO_rare_slim

Synonyms

cardiovascular Gaucher disease [EXACT]

Gaucher disease type 3C [EXACT]

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome [EXACT]

Gaucher-like disease [EXACT]

GD3C [EXACT]

Parent Relationships

is_a Gaucher's disease type III

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