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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:pyridoxal phosphate-responsive seizures
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Accession:EFO:MONDO:0012407 term browser browse the term
Definition:Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
Synonyms:exact_synonym: pyridoxal phosphate-dependent seizures;   pyridoxamine 5'-oxidase deficiency;   pyridoxamine 5'-phosphate oxidase deficiency
 related_synonym: PNPOD;   Pnpo deficiency;   epileptic encephalopathy, neonatal, Pnpo-related;   pyridoxal 5'-phosphate-dependent epilepsy;   pyridoxamine 5-prime-phosphate oxidase deficiency;   pyridoxine-5'-phosphate oxidase deficiency;   seizures, pyridoxine-resistant, PLP-sensitive
 alt_id: MONDO:0012407
 xref: DOID:0111329;   GARD:10730;   MEDGEN:350498;   MESH:C566449;   MIM:610090;   ORDO:79096;   SCTID:724576005;   UMLS:C1864723;   icd11.foundation:1632334328
 external_ontology: disease_responds_to EFO:CHEBI:18405
 see_also: https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#pyridoxine

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary neurological disease 0
              pyridoxal phosphate-responsive seizures 0
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            nutritional disorder 0
              nutritional deficiency disease 0
                vitamin deficiency disorder 0
                  vitamin metabolic disorder 0
                    inborn disorder of pyridoxine metabolism 0
                      pyridoxal phosphate-responsive seizures 0
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