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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:developmental and epileptic encephalopathy 99
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Accession:DOID:0070385 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: DEE99;   early infantile epileptic encephalopathy 99
 primary_id: OMIM:619606
 alt_id: DOID:9001126



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developmental and epileptic encephalopathy 99 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 99 OMIM
ClinVar
PMID:5996915 PMID:15260953 PMID:20301294 PMID:21911500 PMID:22842232 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      electroclinical syndrome 1349
        developmental and epileptic encephalopathy 975
          developmental and epileptic encephalopathy 99 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            epilepsy 2796
              electroclinical syndrome 1349
                developmental and epileptic encephalopathy 975
                  developmental and epileptic encephalopathy 99 1
paths to the root