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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:pyridoxamine 5'-phosphate oxidase deficiency
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Accession:DOID:0111329 term browser browse the term
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. (DO)
Synonyms:exact_synonym: PNPO deficiency;   PNPO-Related Neonatal Epileptic Encephalopathy;   PNPOD;   Pyridoxal 5'-Phosphate-Dependent Epilepsy;   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency;   pyridoxal phosphate-dependent seizures;   pyridoxal phosphate-responsive seizures;   pyridoxamine 5'-oxidase deficiency;   pyridoxine-5'-phosphate oxidase deficiency;   pyridoxine-resistant seizures, PLP-sensitive
 primary_id: MESH:C566449
 alt_id: MIM:610090
 xref: GARD:10730;   ORDO:79096


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Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        Metabolic Brain Diseases 443
          pyridoxamine 5'-phosphate oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            cerebrovascular disease 985
              brain ischemia 649
                Brain Hypoxia-Ischemia 107
                  pyridoxamine 5'-phosphate oxidase deficiency 1
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