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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:early-onset vitamin B6-dependent epilepsy 1
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Accession:DOID:0080769 term browser browse the term
Definition:A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. (DO)
Synonyms:exact_synonym: EPEO1;   EPVB6D;   PDE-PLPBP
 broad_synonym: early-onset vitamin B6-dependent epilepsy
 primary_id: OMIM:617290



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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 OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:27912044 PMID:28391250 PMID:28492532 More... NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        central nervous system disease 12371
          brain disease 11608
            epilepsy 2798
              pyridoxine-dependent epilepsy 8
                early-onset vitamin B6-dependent epilepsy 1 1
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            autosomal genetic disease 9422
              autosomal recessive disease 6502
                pyridoxine-dependent epilepsy 8
                  early-onset vitamin B6-dependent epilepsy 1 1
paths to the root