Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:pyridoxamine 5'-phosphate oxidase deficiency
go back to main search page
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;   Pyridoxine-5'-Phosphate Oxidase Deficiency;   pyridoxal phosphate-dependent seizures;   pyridoxal phosphate-responsive seizures;   pyridoxamine 5'-oxidase deficiency;   pyridoxine-resistant seizures, PLP-sensitive
 primary_id: MESH:C566449
 alt_id: OMIM:610090;   RDO:0014800
 xref: GARD:10730;   ORDO:79096
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
pyridoxamine 5'-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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        Metabolic Brain Diseases 472
          pyridoxamine 5'-phosphate oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            cerebrovascular disease 804
              brain ischemia 516
                Hypoxia-Ischemia, Brain 79
                  pyridoxamine 5'-phosphate oxidase deficiency 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.