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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 108
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Accession:DOID:0070394 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: DEE108;   early infantile epileptic encephalopathy 108
 primary_id: OMIM:620115
 alt_id: DOID:9006521


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developmental and epileptic encephalopathy 108 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mast3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 108 OMIM
ClinVar		 PMID:25741868 PMID:34185323 PMID:35095415 NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        developmental and epileptic encephalopathy 982
          developmental and epileptic encephalopathy 108 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            epilepsy 2811
              electroclinical syndrome 1357
                developmental and epileptic encephalopathy 982
                  developmental and epileptic encephalopathy 108 1
paths to the root