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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Gaucher disease
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Accession:EFO:MONDO:0018150 term browser browse the term
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).
Synonyms:exact_synonym: Gaucher syndrome;   Gaucher's disease;   acid beta-glucosidase deficiency;   glocucerebrosidase deficiency;   glucocerebrosidase deficiency;   glucocerebrosidosis;   glucosylceramidase deficiency;   glucosylceramide beta-glucosidase deficiency;   kerasin thesaurismosis;   lipoid histiocytosis (kerasin type)
 narrow_synonym: acute cerebral Gaucher disease
 related_synonym: Gaucher splenomegaly;   cerebroside lipidosis syndrome;   glucosyl cerebroside lipidosis;   kerasin histiocytosis;   kerasin lipoidosis;   sphingolipidosis 1
 alt_id: MONDO:0018150
 xref: DOID:1926;   GARD:8233;   ICD10CM:E75.22;   MEDGEN:42164;   MESH:D005776;   MedDRA:10018048;   NANDO:1200056;   NANDO:2200562;   NCI:C61268;   NORD:1177;   ORDO:355;   SCTID:190794006;   UMLS:C0017205


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of visual system 0
            eye disease 0
              Gaucher disease 0
                Gaucher disease - ophthalmoplegia - cardiovascular calcification 0
                Gaucher disease perinatal lethal 0
                Gaucher disease type 1 0
                Gaucher disease type 2 0
                Gaucher disease type 3 0
                Gaucher disease type I 0
                Gaucher disease type II 0
                Gaucher disease type III 0
                Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inherited lipid metabolism disorder 0
                lysosomal lipid storage disorder 0
                  sphingolipidosis 0
                    Gaucher disease 0
                      Gaucher disease - ophthalmoplegia - cardiovascular calcification 0
                      Gaucher disease perinatal lethal 0
                      Gaucher disease type 1 0
                      Gaucher disease type 2 0
                      Gaucher disease type 3 0
                      Gaucher disease type I 0
                      Gaucher disease type II 0
                      Gaucher disease type III 0
                      Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0
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