| 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 | |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |