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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;   EIEE27;   early infantile epileptic encephalopathy 27
 broad_synonym: GRIN2B-RELATED DISORDER
 related_synonym: developmental delay with intractable seizures
 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 Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 ClinVar PMID:28492532 NCBI chr 4:167,768,437...167,825,706
Ensembl chr 4:167,818,271...167,825,706
JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,822,951...169,841,884
Ensembl chr 4:169,822,952...169,841,658
JBrowse link
G Art4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,740,331...169,751,571
Ensembl chr 4:169,740,331...169,750,665
JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650
JBrowse link
G Bcl2l14 Bcl2-like 14 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,217,561...167,258,723
Ensembl chr 4:167,219,871...167,258,086
JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,458,640...167,543,556
Ensembl chr 4:167,473,177...167,540,993
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Crebl2 cAMP responsive element binding protein-like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,673,359...167,699,299
Ensembl chr 4:167,673,315...167,699,292
JBrowse link
G Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,845,652...167,858,115
Ensembl chr 4:167,845,640...167,859,115
JBrowse link
G Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,546,780...167,629,949
Ensembl chr 4:167,548,155...167,629,980
JBrowse link
G Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:168,212,901...168,233,039
Ensembl chr 4:168,212,861...168,232,904
JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
JBrowse link
G Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,804,656...169,821,660
Ensembl chr 4:169,804,658...169,821,660
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:168,048,313...168,124,017
Ensembl chr 4:168,048,396...168,097,338
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:167,710,666...167,741,036
JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,903,542...167,922,276
Ensembl chr 4:167,903,542...167,922,260
JBrowse link
G Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,943,523...167,955,616
Ensembl chr 4:167,943,523...167,955,616
JBrowse link
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:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19874789 More... NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 ClinVar PMID:28492532 NCBI chr 4:168,090,773...168,107,039
Ensembl chr 4:168,090,776...168,107,039
JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G H2aj H2A.J histone ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,675,718...169,676,202
Ensembl chr 4:169,675,752...169,677,006
JBrowse link
G H4f16 H4 histone 16 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532
G Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,974,318...168,003,859
Ensembl chr 4:167,974,319...168,003,854
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497
JBrowse link
G Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:167,438,817...167,459,047
Ensembl chr 4:167,439,071...167,479,606
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 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
JBrowse link
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969
JBrowse link
G Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,472,983...169,529,277
Ensembl chr 4:169,472,983...169,529,277
JBrowse link
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771
JBrowse link
G Rerg RAS-like, estrogen-regulated, growth-inhibitor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,981,634...170,089,777
Ensembl chr 4:169,982,279...170,089,715
JBrowse link
G Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,719,962...169,728,849
Ensembl chr 4:169,719,949...169,728,133
JBrowse link
G Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 ClinVar PMID:28492532 NCBI chr 4:169,680,984...169,694,431
Ensembl chr 4:169,680,983...169,694,443
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      electroclinical syndrome 925
        developmental and epileptic encephalopathy 738
          developmental and epileptic encephalopathy 27 35
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            epilepsy 2588
              electroclinical syndrome 925
                neonatal period electroclinical syndrome 737
                  early infantile epileptic encephalopathy 717
                    developmental and epileptic encephalopathy 27 35
paths to the root