Gaucher disease
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 ]
Term info
- UMLS:C0017205 (Orphanet:355/e)
- ICD10CM:E75.22 (MONDO:equivalentTo)
- NCIT:C61268 (MONDO:equivalentTo)
- GARD:0008233 (MONDO:equivalentTo)
- SCTID:190794006 (MONDO:equivalentTo)
- DOID:1926 (MONDO:equivalentTo)
- Orphanet:355 (MONDO:equivalentTo)
- MedDRA:10018048 (Orphanet:355/e)
- MESH:D005776 (Orphanet:355/e)
ordo_disease
http://identifiers.org/meddra/10018048
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://linkedlifedata.com/resource/umls/id/C0017205, http://identifiers.org/mesh/D005776, http://identifiers.org/snomedct/190794006, http://purl.obolibrary.org/obo/Orphanet_355, http://purl.bioontology.org/ontology/ICD10CM/E75.22, http://purl.obolibrary.org/obo/DOID_1926, http://purl.obolibrary.org/obo/NCIT_C61268
glocucerebrosidase deficiency, Gaucher disease, lipoid histiocytosis (kerasin type), acid beta-glucosidase deficiency, glucosylceramide beta-glucosidase deficiency, glucocerebrosidosis, Gaucher syndrome, kerasin thesaurismosis, glucocerebrosidase deficiency, glucosylceramidase deficiency, Gaucher's disease
acute cerebral Gaucher disease
kerasin lipoidosis, kerasin histiocytosis, glucosyl cerebroside lipidosis, Gaucher splenomegaly, cerebroside lipidosis syndrome, sphingolipidosis 1
MONDO:0018150