OBO ID: DOID:0112250 |
Term Name: | Gaucher's disease type IIIC | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112250 ) |
OTHER Gaucher's disease type IIIC PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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