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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 101
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Accession:DOID:0070387 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: DEE101;   early infantile epileptic encephalopathy 101
 primary_id: OMIM:619814
 alt_id: DOID:9003569


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developmental and epileptic encephalopathy 101 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 OMIM
ClinVar		 PMID:25741868 PMID:27164704 PMID:28492532 PMID:31219694 PMID:34611970
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    syndrome 9945
      electroclinical syndrome 1320
        developmental and epileptic encephalopathy 964
          developmental and epileptic encephalopathy 101 1
Path 2
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      nervous system disease 12992
        central nervous system disease 11644
          brain disease 10936
            epilepsy 2744
              electroclinical syndrome 1320
                developmental and epileptic encephalopathy 964
                  developmental and epileptic encephalopathy 101 1
paths to the root