FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Gaucher's disease ID (Ontology) DOID:1926 (Human Disease)
Definition A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Also Known As "acid beta-glucosidase deficiency" ; "Gaucher disease" ; "glocucerebrosidase deficiency" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      18
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Gaucher's disease      19      4      1
 ameliorates | Gaucher's disease       1       --       --
 exacerbates | Gaucher's disease       2       --       --
 model of | Gaucher's disease      16       --       --
 DOES NOT model | Gaucher's disease       1       --       --
Spanning Tree (Parents/Children)
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  lipid storage disease
   |__sphingolipidosis
       |__Gaucher's disease  25 rec.
           |__atypical Gaucher's disease due to saposin c deficiency 1 rec.
           |__Gaucher's disease perinatal lethal 2 rec.
           |__Gaucher's disease type I 2 rec.
           |__Gaucher's disease type II 2 rec.
           |__Gaucher's disease type III 2 rec.
               |__Gaucher's disease type IIIC 2 rec.
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Is a sphingolipidosis
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Synonyms
  • "acid beta-glucosidase deficiency" EXACT
    "Gaucher disease" EXACT
    "glocucerebrosidase deficiency" EXACT
    "glucosylceramide beta-glucosidase deficiency" EXACT
    "kerasin thesaurismosis" EXACT
Secondary IDs
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GARD:8233
ICD10CM:E75.22
MESH:D005776
NCI:C61268
ORDO:355
SNOMEDCT_US_2023_03_01:190794006
UMLS_CUI:C0017205