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 ]
Term information
- 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)
ordo_disease
http://identifiers.org/snomedct/180485001
http://identifiers.org/snomedct/62201009
http://identifiers.org/snomedct/2859005
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).
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
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
kerasin lipoidosis
kerasin histiocytosis
glucosyl cerebroside lipidosis
Gaucher splenomegaly
cerebroside lipidosis syndrome
sphingolipidosis 1