Fabry disease
http://purl.obolibrary.org/obo/MONDO_0010526
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. [ Orphanet:324 ]
Term info
- SCTID:16652001 (MONDO:equivalentTo)
- MESH:D000795 (Orphanet:324/e)
- Orphanet:324 (OMIM:301500)
- DOID:14499 (MONDO:equivalentTo)
- UMLS:C0002986 (Orphanet:324/e)
- MedDRA:10016016 (Orphanet:324/e)
- NCIT:C84701 (MONDO:equivalentTo)
- OMIM:301500 (Orphanet:324/e)
- GARD:0006400 (MONDO:equivalentTo)
ordo_disease, clingen
https://github.com/monarch-initiative/mondo/issues/5682
http://identifiers.org/meddra/10016016
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
http://identifiers.org/mesh/D000795, http://purl.obolibrary.org/obo/Orphanet_324, http://purl.obolibrary.org/obo/NCIT_C84701, http://identifiers.org/snomedct/16652001, http://linkedlifedata.com/resource/umls/id/C0002986, https://omim.org/entry/301500, http://purl.obolibrary.org/obo/DOID_14499
http://purl.obolibrary.org/obo/MONDO_0005328, http://purl.obolibrary.org/obo/MONDO_0019293, http://purl.obolibrary.org/obo/MONDO_0020127, http://purl.obolibrary.org/obo/MONDO_0019743, http://purl.obolibrary.org/obo/MONDO_0016340, http://purl.obolibrary.org/obo/MONDO_0019520
diffuse angiokeratoma, Anderson-Fabry disease, alpha galactosidase deficiency, deficiency of melibiase, Fabry disease, angiokeratoma corporis diffusum, Alpha-galactosidase A deficiency, Fabry's disease, Fd
Fabry disease, Cardiac variant, ceramide trihexosidase deficiency, Gla deficiency, angiokeratoma, diffuse, hereditary dystopic lipidosis
MONDO:0010526