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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 61
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Accession:DOID:0080434 term browser browse the term
Definition:A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: DEE61;   EIEE61;   early infantile epileptic encephalopathy 61
 primary_id: OMIM:617933
For additional species annotation, visit the Alliance of Genome Resources.



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developmental and epileptic encephalopathy 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam22 ADAM metallopeptidase domain 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 OMIM
ClinVar
PMID:25741868 PMID:27066583 PMID:30237576 NCBI chr 4:25,716,055...25,970,932
Ensembl chr 4:25,715,990...25,964,962
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      electroclinical syndrome 924
        developmental and epileptic encephalopathy 737
          developmental and epileptic encephalopathy 61 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            epilepsy 2579
              electroclinical syndrome 924
                neonatal period electroclinical syndrome 736
                  early infantile epileptic encephalopathy 716
                    developmental and epileptic encephalopathy 61 1
paths to the root