Preferred Name |
Fabry disease |
|
Synonyms |
Fabry Disease, Cardiac Variant alpha galactosidase deficiency |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_14499 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:16652001 ICD10CM:E75.21 UMLS_CUI:C0002986 MESH:D000795 OMIM:301500 GARD:6400 NCI:C84701 |
|
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 |
Fabry Disease, Cardiac Variant alpha galactosidase deficiency Alpha-galactosidase A deficiency Fabry's disease Angiokeratoma Corporis Diffusum deficiency of melibiase |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:14499 |
|
in_subset | ||
label |
Fabry disease |
|
notation |
DOID:14499 |
|
prefLabel |
Fabry disease |
|
subClassOf |