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RGD uses the Human Disease Ontology (DO, 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: Developmental and epileptic encephalopathy, 34 OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24668262 PMID:24928908 More... NCBI chr 3:153,696,522...153,735,801
Ensembl chr 3:153,696,517...153,735,765
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      electroclinical syndrome 976
        developmental and epileptic encephalopathy 745
          developmental and epileptic encephalopathy 34 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            epilepsy 2644
              electroclinical syndrome 976
                neonatal period electroclinical syndrome 740
                  early infantile epileptic encephalopathy 720
                    developmental and epileptic encephalopathy 34 1
paths to the root