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About: pyridoxamine 5'-phosphate oxidase deficiency     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • pyridoxamine 5'-phosphate oxidase deficiency
described by
id
  • DOID:0111329
database_cross_reference
  • GARD:10730
  • MESH:C566449
  • OMIM:610090
  • ORDO:79096
  • SNOMEDCT_US_2021_09_01:724576005
  • UMLS_CUI:C1864723
has_exact_synonym
  • PNPO deficiency (en)
  • PNPO-related neonatal epileptic encephalopathy (en)
  • pyridoxal 5'-phosphate-dependent epilepsy (en)
  • pyridoxal phosphate-dependent seizures (en)
  • pyridoxal phosphate-responsive seizures (en)
  • pyridoxamine 5'-oxidase deficiency (en)
  • pyridoxamine 5-prime-phosphate oxidase deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.
is topic of
is annotatedSource of
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