| Metadata | |
|---|---|
| ID | DOID:14499 |
| Name | Fabry disease |
| Definition | A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. https://ghr.nlm.nih.gov/condition/fabry-disease |
| Xrefs |
SNOMEDCT_US_2023_03_01:16652001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
alpha galactosidase deficiency [EXACT] Alpha-galactosidase A deficiency [EXACT] Angiokeratoma Corporis Diffusum [EXACT] deficiency of melibiase [EXACT] Fabry Disease, Cardiac Variant [EXACT] Fabry's disease [EXACT] |
| Parent Relationships |
is_a sphingolipidosis |