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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:16652001 (MONDO:equivalentTo)
  • GARD:0006400 (Orphanet-shared)
  • NCIT:C84701 (MONDO:equivalentTo)
  • MedDRA:10016016 (Orphanet:324)
  • UMLS:C0002986 (Orphanet:324)
  • Orphanet:324 (OMIM:301500)
  • DOID:14499 (MONDO:equivalentTo)
  • OMIM:301500 (Orphanet:324)
  • ICD10:E75.2 (Orphanet:324)
  • MESH:D000795 (Orphanet:324)
  • ICD10:E75.21 (DOID:14499)
Subsets

ordo_disease, clingen

closeMatch

http://identifiers.org/snomedct/236536000

http://linkedlifedata.com/resource/umls/id/C1970820

http://identifiers.org/snomedct/190796008

http://identifiers.org/snomedct/124464003

http://identifiers.org/snomedct/190792005

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://www.orpha.net/ORDO/Orphanet_324

http://identifiers.org/mesh/D000795

http://purl.obolibrary.org/obo/NCIT_C84701

http://identifiers.org/snomedct/16652001

http://linkedlifedata.com/resource/umls/id/C0002986

http://purl.obolibrary.org/obo/NCIT_C27528

http://purl.obolibrary.org/obo/DOID_14499

http://identifiers.org/meddra/10016016

http://identifiers.org/omim/301500

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

ceramide trihexosidase deficiency

Fabry disease, Cardiac variant

Gla deficiency

angiokeratoma, diffuse

hereditary dystopic lipidosis

id

MONDO:0010526