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 II ID (Ontology) DOID:0110958 (Human Disease)
Definition A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
Also Known As "Gaucher Disease, Acute Neuronopathic Type" ; "GD II" ; "GD2" (for all, see Synonyms field below)
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 Genes
 Gaucher's disease type II       2
 for disease ribbon | Gaucher's disease type II       2
 model of | Gaucher's disease type II       2
Spanning Tree (Parents/Children)
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  sphingolipidosis
   |__Gaucher's disease
       |__Gaucher's disease type II  2 rec.
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Synonyms
  • "Gaucher Disease, Acute Neuronopathic Type" EXACT
    "GD II" EXACT OMO:0003012
    "GD2" EXACT OMO:0003012
    "Infantile Cerebral Gaucher Disease" EXACT
Secondary IDs
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ICD10CM:E75.2
MIM:230900
ORDO:77260