Search Ontology:
Human Disease

Gaucher's disease type II

Term ID
DOID:0110958
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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