loading...| Preferred Name |
Fabry disease |
| Synonyms |
Fabry disease Gla deficiency Fd Anderson-Fabry disease diffuse angiokeratoma alpha galactosidase deficiency Fabry disease, Cardiac variant angiokeratoma, diffuse deficiency of melibiase angiokeratoma corporis diffusum Alpha-galactosidase A deficiency ceramide trihexosidase deficiency Fabry's disease hereditary dystopic lipidosis |
| Definitions |
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0010526 |
| closeMatch | |
| database_cross_reference |
DOID:14499 GARD:0006400 OMIM:301500 MESH:D000795 SCTID:16652001 UMLS:C0002986 MedDRA:10016016 NCIT:C84701 Orphanet:324 |
| definition |
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. |
| disease has feature | |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_14499 http://purl.obolibrary.org/obo/NCIT_C84701 http://identifiers.org/mesh/D000795 http://linkedlifedata.com/resource/umls/id/C0002986 |
| has characteristic | |
| has_exact_synonym |
Fabry disease Fd Anderson-Fabry disease diffuse angiokeratoma alpha galactosidase deficiency deficiency of melibiase angiokeratoma corporis diffusum Alpha-galactosidase A deficiency Fabry's disease |
| has_related_synonym |
Gla deficiency Fabry disease, Cardiac variant angiokeratoma, diffuse ceramide trihexosidase deficiency hereditary dystopic lipidosis |
| IAO_0000233 | |
| id |
MONDO:0010526 |
| in_subset | |
| label |
Fabry disease |
| notation |
MONDO:0010526 |
| prefLabel |
Fabry disease |
| treeView | |
| subClassOf | |
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016340 http://purl.obolibrary.org/obo/MONDO_0019293 http://purl.obolibrary.org/obo/MONDO_0019520 http://purl.obolibrary.org/obo/MONDO_0019743 |