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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 86
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Accession:DOID:0112220 term browser browse the term
Definition:A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DALRD2 on chromosome 3p21.31. (DO)
Synonyms:exact_synonym: DEE86;   EIEE86;   early infantile epileptic encephalopathy 86
 primary_id: OMIM:618910
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 86 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86 OMIM
ClinVar
PMID:32427860 NCBI chr 8:117,355,943...117,358,819
Ensembl chr 8:117,355,943...117,358,818
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      electroclinical syndrome 655
        developmental and epileptic encephalopathy 493
          developmental and epileptic encephalopathy 86 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            epilepsy 1878
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 86 1
paths to the root