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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
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Accession:DOID:0080769 term browser browse the term
Definition:An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11. (DO)
Synonyms:exact_synonym: EPVB6D
 primary_id: OMIM:617290
For additional species annotation, visit the Alliance of Genome Resources.


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early-onset vitamin B6-dependent epilepsy 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: Epilepsy, early-onset, vitamin b6-dependent
ClinVar
OMIM
PMID:25741868, PMID:27912044 NCBI chr16:69,164,654...69,176,245
Ensembl chr16:69,163,577...69,176,036
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            epilepsy 1532
              early-onset vitamin B6-dependent epilepsy 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                early-onset vitamin B6-dependent epilepsy 1
paths to the root

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