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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:pyridoxine-dependent epilepsy
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Accession:DOID:0080768 term browser browse the term
Definition:An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. (DO)
Synonyms:exact_synonym: Aasa dehydrogenase deficiency;   EPD;   PDE;   Pyridoxine dependency;   pyridoxine dependency with seizures;   pyridoxine-dependent seizures;   vitamin B6-dependent seizures
 primary_id: MESH:C536254
 alt_id: OMIM:266100
 xref: GARD:9298;   ORDO:3006
For additional species annotation, visit the Alliance of Genome Resources.


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pyridoxine-dependent epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy
ClinVar Annotator: match by OMIM:266100
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 PMID:17721876 PMID:18414213 PMID:18717709 PMID:19128417 PMID:19142996 PMID:20370816 PMID:20554659 PMID:20814824 PMID:21733724 PMID:22371912 PMID:22529283 PMID:22784480 PMID:23022070 PMID:23054014 PMID:23350806 PMID:23430810 PMID:23925287 PMID:24033266 PMID:24122892 PMID:24664088 PMID:24664145 PMID:24748525 PMID:24848745 PMID:24942048 PMID:25326637 PMID:25741868 PMID:26101365 PMID:26224730 PMID:26232297 PMID:26467025 PMID:26891797 PMID:27324284 PMID:27438048 PMID:28087462 PMID:28492532 PMID:28962114 PMID:29045138 PMID:29056246 PMID:29286531 PMID:29655203 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:69,164,654...69,176,245
Ensembl chr16:69,163,577...69,176,036
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:16575835 PMID:25741868 PMID:28492532 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            epilepsy 1485
              pyridoxine-dependent epilepsy 7
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                pyridoxine-dependent epilepsy 7
paths to the root