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Gaucher disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0018150

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 ]

Synonyms: glocucerebrosidase deficiency Gaucher disease glucosylceramide beta-glucosidase deficiency acid beta-glucosidase deficiency glucocerebrosidosis lipoid histiocytosis (kerasin type) Gaucher syndrome glucosylceramidase deficiency kerasin thesaurismosis glucocerebrosidase deficiency Gaucher's disease

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C61268 (MONDO:equivalentTo)
  • UMLS:C0017205 (Orphanet:355/e)
  • NORD:1177 (MONDO:NORD)
  • MESH:D005776 (Orphanet:355/e)
  • SCTID:190794006 (MONDO:equivalentTo)
  • ICD10CM:E75.22 (MONDO:equivalentTo)
  • DOID:1926 (MONDO:equivalentTo)
  • MedDRA:10018048 (Orphanet:355/e)
  • Orphanet:355 (MONDO:equivalentTo)
  • GARD:8233 (Orphanet:355)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10018048

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.bioontology.org/ontology/ICD10CM/E75.22

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

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

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

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018150

Term relations