Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). [ Orphanet:355 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D005776 (Orphanet:355)
  • NCIT:C61268 (MONDO:equivalentTo)
  • ICD10:E75.2 (Orphanet:355)
  • UMLS:C0017205 (Orphanet:355)
  • ICD10:E75.22 (MONDO:equivalentTo)
  • SCTID:190794006 (MONDO:equivalentTo)
  • Orphanet:355 (MONDO:equivalentTo)
  • DOID:1926 (MONDO:equivalentTo)
  • MedDRA:10018048 (Orphanet:355)
  • GARD:0008233 (Orphanet-shared)
Subsets

ordo_disease

closeMatch

http://identifiers.org/snomedct/180485001

http://identifiers.org/snomedct/62201009

http://identifiers.org/snomedct/2859005

definition

Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).

exactMatch

http://www.orpha.net/ORDO/Orphanet_355

http://linkedlifedata.com/resource/umls/id/C0017205

http://identifiers.org/mesh/D005776

http://identifiers.org/snomedct/190794006

http://purl.obolibrary.org/obo/DOID_1926

http://identifiers.org/meddra/10018048

http://purl.obolibrary.org/obo/NCIT_C61268

has exact synonym

glocucerebrosidase deficiency

Gaucher disease

glucocerebrosidosis

lipoid histiocytosis (kerasin type)

acid beta-glucosidase deficiency

glucosylceramide beta-glucosidase deficiency

lipoid histiocytosis

Gaucher syndrome

glucosylceramidase deficiency

kerasin thesaurismosis

glucocerebrosidase deficiency

Gaucher's disease

has narrow synonym

acute cerebral Gaucher disease

has related synonym

kerasin lipoidosis

kerasin histiocytosis

glucosyl cerebroside lipidosis

Gaucher splenomegaly

cerebroside lipidosis syndrome

sphingolipidosis 1

id

MONDO:0018150