ONTOLOGY REPORT - ANNOTATIONS


Term:Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
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Accession:DOID:9008640 term browser browse the term
Synonyms:exact_synonym: PNPO Deficiency;   PNPO-Related Neonatal Epileptic Encephalopathy;   PNPOD;   Pyridoxal 5'-Phosphate-Dependent Epilepsy;   Pyridoxine-5'-Phosphate Oxidase Deficiency;   Seizures, Pyridoxine-Resistant, PLP-Sensitive
 primary_id: MESH:C566449;   RDO:0014800
 alt_id: OMIM:610090
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Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpo pyridoxamine 5'-phosphate oxidase JBrowse link 10 84,874,926 84,881,190 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        Metabolic Brain Diseases 441
          Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            cerebrovascular disease 788
              brain ischemia 508
                Hypoxia-Ischemia, Brain 79
                  Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.