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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:juvenile absence epilepsy 1
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Accession:DOID:0111324 term browser browse the term
Definition:A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. (DO)
Synonyms:exact_synonym: EJA1;   JAE1
 related_synonym: juvenile absence epilepsy, susceptibility to, 1
 primary_id: OMIM:607631
For additional species annotation, visit the Alliance of Genome Resources.


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juvenile absence epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFHC1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar
PMID:17159113, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12752
    syndrome 6179
      electroclinical syndrome 375
        absence epilepsy 97
          adolescence-adult electroclinical syndrome 39
            juvenile absence epilepsy 2
              juvenile absence epilepsy 1 1
Path 2
Term Annotations click to browse term
  disease 12752
    disease of anatomical entity 12282
      nervous system disease 10043
        central nervous system disease 8492
          brain disease 7871
            epilepsy 1468
              electroclinical syndrome 375
                absence epilepsy 97
                  childhood electroclinical syndrome 65
                    childhood absence epilepsy 29
                      juvenile absence epilepsy 2
                        juvenile absence epilepsy 1 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.