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

AttributesValues
type
subClassOf
label
  • glycogen storage disease IXc
described by
id
  • DOID:0111043
database_cross_reference
  • ICD10CM:E74.0
  • OMIM:613027
has_exact_synonym
  • GSD type 9C (en)
  • GSD type IXc (en)
  • GSD9C (en)
  • glycogen storage disease type 9C (en)
  • glycogen storage disease type IXc (en)
  • glycogenosis type 9C (en)
  • glycogenosis type IXc (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.
is first of
is topic of
is annotatedSource of
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