JSON

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

database cross reference
  • NCIT:C84701 (MONDO:equivalentTo)
  • GARD:0006400 (MONDO:equivalentTo)
  • DOID:14499 (MONDO:equivalentTo)
  • UMLS:C0002986 (Orphanet:324/e)
  • SCTID:16652001 (MONDO:equivalentTo)
  • MedDRA:10016016 (Orphanet:324/e)
  • Orphanet:324 (OMIM:301500)
  • OMIM:301500 (Orphanet:324/e)
  • MESH:D000795 (Orphanet:324/e)
Subsets

ordo_disease, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10016016

definition

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

exactMatch

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

excluded subClassOf

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

has exact synonym

diffuse angiokeratoma, Anderson-Fabry disease, alpha galactosidase deficiency, deficiency of melibiase, Fabry disease, angiokeratoma corporis diffusum, Alpha-galactosidase A deficiency, Fabry's disease, Fd

has related synonym

Fabry disease, Cardiac variant, ceramide trihexosidase deficiency, Gla deficiency, angiokeratoma, diffuse, hereditary dystopic lipidosis

id

MONDO:0010526