OBO ID: DOID:0110958
Term Name: Gaucher's disease type II Search Ontology:
Synonyms:
  • Gaucher Disease, Acute Neuronopathic Type
  • GD II
  • GD2
  • Infantile Cerebral Gaucher 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. (2)
References:
Ontology: Human Disease   ( DOID:0110958 )
Relationships
is a type of:
inverse disjoint_from:
OTHER Gaucher's disease type II PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GBA Gaucher disease, type II 230900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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