loading...| Preferred Name |
Fabry disease |
| Synonyms |
Angiokeratoma Corporis Diffusum |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14499 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:301500 NCI:C84701 MESH:D000795 SNOMEDCT_US_2022_09_01:16652001 UMLS_CUI:C0002986 ICD10CM:E75.21 GARD:6400 |
| 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. |
| has exact synonym |
Angiokeratoma Corporis Diffusum alpha galactosidase deficiency Fabry Disease, Cardiac Variant Alpha-galactosidase A deficiency deficiency of melibiase Fabry's disease |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14499 |
| in_subset | |
| label |
Fabry disease |
| notation |
DOID:14499 |
| prefLabel |
Fabry disease |
| subClassOf |