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About: Gaucher's disease type II     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Gaucher's disease type II
described by
id
  • DOID:0110958
database_cross_reference
  • ICD10CM:E75.2
  • OMIM:230900
  • ORDO:77260
has_exact_synonym
  • GD II (en)
  • GD2
  • Gaucher Disease, Acute Neuronopathic Type (en)
  • Infantile Cerebral Gaucher Disease (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22.
is first of
is topic of
is annotatedSource of
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