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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 27
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Accession:DOID:0080444 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. (DO)
Synonyms:exact_synonym: DEE27;   DEVELOPMENTAL DELAY WITH INTRACTABLE SEIZURES;   EIEE27;   early infantile epileptic encephalopathy 27
 broad_synonym: GRIN2B-RELATED DISORDER
 primary_id: OMIM:616139
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27
OMIM
ClinVar
PMID:18414213 PMID:23408766 PMID:24272827 PMID:24759409 PMID:25326635 PMID:25741868 PMID:26350515 PMID:26467025 PMID:27818011 PMID:28377535 PMID:28440294 PMID:28492532 PMID:28554332 PMID:28708303 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: developmental delay with intractable seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link

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 27 2
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 27 2
paths to the root