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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: EPD;   PDE;   pyridoxine dependency;   pyridoxine dependency with seizures;   pyridoxine-dependent seizures;   vitamin B6-dependent seizures
 primary_id: MESH:C536254
 xref: GARD:9298;   ORDO:3006


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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
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:266100
ClinVar Annotator: match by term: Pyridoxine dependency with seizures | ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy 		CTD
MouseDO
ClinVar		 PMID:9536098 PMID:16159904 PMID:16199547 PMID:16491085 PMID:17068770 More... NCBI chr18:52,208,035...52,240,293
Ensembl chr18:52,204,161...52,240,467 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Pyridoxine dependency with seizures ClinVar PMID:25741868 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar NCBI chr18:50,053,133...50,069,823
Ensembl chr18:52,248,709...52,267,915 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:65,003,292...65,014,886
Ensembl chr16:71,700,028...71,717,726 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408 		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 3:15,520,717...15,538,579
Ensembl chr 3:35,918,188...35,936,364 		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 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
early-onset vitamin B6-dependent epilepsy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Epilepsy, early-onset, vitamin B6-dependent | ClinVar Annotator: match by term: PLPBP-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27912044 PMID:28391250 PMID:28492532 More... NCBI chr16:65,003,292...65,014,886
Ensembl chr16:71,700,028...71,717,726 		JBrowse link
early-onset vitamin B6-dependent epilepsy 4 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: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT OMIM
ClinVar		 PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr18:52,208,035...52,240,293
Ensembl chr18:52,204,161...52,240,467 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT ClinVar PMID:25741868 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2950
              early-onset epilepsy 11
                pyridoxine-dependent epilepsy 8
                  early-onset vitamin B6-dependent epilepsy 1 1
                  early-onset vitamin B6-dependent epilepsy 4 3
paths to the root