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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 5
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Accession:DOID:0080438 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: DEE5;   EIEE5;   early infantile epileptic encephalopathy 5
 primary_id: OMIM:613477
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by OMIM:613477
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20493457 PMID:22258530 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:29358611 PMID:31474318 PMID:32963807 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 530
          developmental and epileptic encephalopathy 5 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            epilepsy 2151
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 537
                  early infantile epileptic encephalopathy 520
                    developmental and epileptic encephalopathy 5 1
paths to the root