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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Gaucher disease type 1
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Accession:EFO:Orphanet:77259 term browser browse the term
Definition:Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.
Comment:"orphanet"
Synonyms:exact_synonym: Non-cerebral juvenile Gaucher disease
 xref: ICD10:E75.2;   MIM:230800;   UMLS:C1961835

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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Rare genetic bone disease 0
              Rare hereditary disease with avascular necrosis 0
                Gaucher disease type 1 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            inborn errors of metabolism 0
              inherited lipid metabolism disorder 0
                lysosomal lipid storage disorder 0
                  sphingolipidosis 0
                    Gaucher disease 0
                      Gaucher disease type 1 0
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