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DOID:0111329 - pyridoxamine 5'-phosphate oxidase deficiency
Disease Ontology Definition: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.
Synonyms: PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, pyridoxal 5'-phosphate-dependent epilepsy, pyridoxal phosphate-dependent seizures, pyridoxal phosphate-responsive seizures, pyridoxamine 5'-oxidase deficiency, pyridoxamine 5-prime-phosphate oxidase deficiency,
Xenbase Genes
:
pnpo
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
vitamin metabolic disorder (is_a)