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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 34
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Accession:DOID:0080460 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. (DO)
Synonyms:exact_synonym: DEE34;   EIEE34;   early infantile epileptic encephalopathy 34
 primary_id: OMIM:616645
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24668262 PMID:24928908 PMID:25741868 PMID:26333769 PMID:27436767 PMID:27535533 PMID:28492532 PMID:30763027 NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    syndrome 7744
      electroclinical syndrome 690
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 34 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      nervous system disease 11927
        central nervous system disease 10245
          brain disease 9612
            epilepsy 2135
              electroclinical syndrome 690
                neonatal period electroclinical syndrome 530
                  early infantile epileptic encephalopathy 521
                    developmental and epileptic encephalopathy 34 1
paths to the root