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 type I ID (Ontology) DOID:0110957 (Human Disease)
Definition A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
Also Known As "Acid Beta-Glucosidase Deficiency" ; "Gaucher Disease, Noncerebral Juvenile" ; "Gba Deficiency" (for all, see Synonyms field below)
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 Genes
 Gaucher's disease type I       2
 for disease ribbon | Gaucher's disease type I       2
 model of | Gaucher's disease type I       2
Spanning Tree (Parents/Children)
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  sphingolipidosis
   |__Gaucher's disease
       |__Gaucher's disease type I  2 rec.
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Synonyms
  • "Acid Beta-Glucosidase Deficiency" EXACT
    "Gaucher Disease, Noncerebral Juvenile" EXACT
    "Gba Deficiency" EXACT
    "GD I" EXACT OMO:0003012
    "GD1" EXACT OMO:0003012
    "Glucocerebrosidase Deficiency" EXACT
Secondary IDs
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ICD10CM:E75.2
MIM:230800
ORDO:77259