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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;   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.


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pyridoxamine 5'-phosphate oxidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by OMIM:610090
ClinVar Annotator: match by term: Pyridoxal 5'-phosphate-dependent epilepsy
ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures
OMIM
ClinVar
PMID:12200739 PMID:15772097 PMID:18024216 PMID:18485777 PMID:20370816 PMID:21292558 PMID:22858719 PMID:23419474 PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25256445 PMID:25741868 PMID:25762494 PMID:26467025 PMID:27781031 PMID:28349276 PMID:28492532 PMID:28985901 NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Nutritional and Metabolic Diseases 4714
      disease of metabolism 4714
        Metabolic Brain Diseases 577
          pyridoxamine 5'-phosphate oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            cerebrovascular disease 817
              brain ischemia 530
                Hypoxia-Ischemia, Brain 80
                  pyridoxamine 5'-phosphate oxidase deficiency 1
paths to the root