Fabry Disease
Disease ID: disease_node_1230
Connections displayed (default: 10).
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| Dbxref | GARD:6400, ICD10CM:E75.21, MESH:D000795, MIM:301500, NCI:C84701, SNOMEDCT_US_2023_03_01:16652001, UMLS_CUI:C0002986 |
|---|---|
| Subclassof | DOID_1927 |
| Data Source | DOID, MESH |
| Synonyms | Alpha-galactosidase A deficiency, Angiokeratoma Corporis Diffusum, Fabry Disease, Cardiac Variant, Fabry's disease, alpha galactosidase deficiency, deficiency of melibiase |
| Mesh Id | D000795 |
| Mesh Label | Fabry Disease |
| Mesh Subclassof | D013106, D040181, D059345 |
| Doid Label | Fabry disease |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_1230 |
| Doid Id | DOID_14499 |
| Label | Fabry Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Sphingolipidoses(ID:disease_node_7022) (Disease)