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
- SCTID:190794006 (MONDO:equivalentTo)
- UMLS:C0017205 (Orphanet:355)
- ICD10:E75.22 (MONDO:equivalentTo)
- Orphanet:355 (MONDO:equivalentTo)
- MESH:D005776 (Orphanet:355)
- MedDRA:10018048 (Orphanet:355)
- ICD10:E75.2 (Orphanet:355)
- NCIT:C61268 (MONDO:equivalentTo)
- GARD:0008233 (Orphanet-shared)
- DOID:1926 (MONDO:equivalentTo)
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/snomedct/190794006
http://identifiers.org/mesh/D005776
http://purl.obolibrary.org/obo/DOID_1926
http://identifiers.org/meddra/10018048
http://purl.obolibrary.org/obo/NCIT_C61268
glocucerebrosidase deficiency
Gaucher disease
glucocerebrosidosis
acid beta-glucosidase deficiency
glucosylceramide beta-glucosidase deficiency
lipoid histiocytosis
lipoid histiocytosis (kerasin type)
Gaucher syndrome
glucocerebrosidase deficiency
kerasin thesaurismosis
glucosylceramidase deficiency
Gaucher's disease
kerasin lipoidosis
kerasin histiocytosis
glucosyl cerebroside lipidosis
Gaucher splenomegaly
cerebroside lipidosis syndrome
sphingolipidosis 1