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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 54
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Accession:DOID:0080418 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. (DO)
Synonyms:exact_synonym: DEE54;   EIEE54;   early infantile epileptic encephalopathy 54
 primary_id: OMIM:617391


show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:17,220,081...17,259,141
Ensembl chr10:17,220,207...17,259,182 		JBrowse link
G AHCTF1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:15,042,168...15,121,885
Ensembl chr10:15,042,275...15,132,326 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337 		JBrowse link
G CATSPERE catsper channel auxiliary subunit epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:17,268,401...17,355,145
Ensembl chr10:17,282,939...17,355,061 		JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:16,068,544...16,191,277
Ensembl chr10:16,068,542...16,191,137 		JBrowse link
G CNST consortin, connexin sorting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:19,046,384...19,139,662
Ensembl chr10:19,046,429...19,139,655 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:17,471,837...17,477,394
Ensembl chr10:17,471,908...17,477,392 		JBrowse link
G DESI2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:17,365,649...17,416,642
Ensembl chr10:17,365,689...17,416,635 		JBrowse link
G EFCAB2 EF-hand calcium binding domain 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:17,558,224...17,655,269
Ensembl chr10:17,628,396...17,656,201 		JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:15,317,555...15,360,593
Ensembl chr10:15,317,581...15,359,839 		JBrowse link
G GCSAML germinal center associated signaling and motility like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,690,853...56,744,757
Ensembl chr 2:56,687,503...56,744,674 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22678713 PMID:23708187 More... NCBI chr10:17,475,266...17,497,060
Ensembl chr10:17,477,902...17,497,030 		JBrowse link
G KIF26B kinesin family member 26B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:17,708,365...18,220,052
Ensembl chr10:18,081,754...18,219,848 		JBrowse link
G LOC100513138 olfactory receptor 6F1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,347,655...56,348,578 JBrowse link
G LOC100514452 olfactory receptor 2M3-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:54,017,432...54,018,364 JBrowse link
G LOC100514629 vomeronasal type-1 receptor 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:57,154,220...57,155,297 JBrowse link
G LOC100515362 olfactory receptor 2B11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,862,025...56,862,981
Ensembl chr 2:56,862,025...56,862,978 		JBrowse link
G LOC100516421 olfactory receptor 2G3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,615,126...56,616,070
Ensembl chr 2:56,615,141...56,616,070 		JBrowse link
G LOC100516426 olfactory receptor 2T3-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:52,779,572...52,780,922 JBrowse link
G LOC100517216 olfactory receptor 14C36-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:54,214,539...54,215,450 JBrowse link
G LOC100517331 olfactory receptor 14A16-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,149,329...56,150,261 JBrowse link
G LOC100520720 zinc finger protein 14-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:66,628,235...66,639,452 JBrowse link
G LOC100520723 olfactory receptor 2T8-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:53,090,259...53,091,233 JBrowse link
G LOC100521433 olfactory receptor 2L3-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:55,309,592...55,310,530 JBrowse link
G LOC100521607 olfactory receptor 2L8-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:55,277,835...55,278,773 JBrowse link
G LOC100523426 olfactory receptor 2L13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:54,975,111...54,976,049 JBrowse link
G LOC100620594 olfactory receptor 2M4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:54,835,060...54,835,995
Ensembl chr 2:54,835,060...54,835,995 		JBrowse link
G LOC100623406 olfactory receptor 2T27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:53,163,848...53,164,789
Ensembl chr 2:53,163,848...53,164,789 		JBrowse link
G LOC100623502 olfactory receptor 2T1-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:54,339,010...54,340,093 JBrowse link
G LOC100623613 olfactory receptor 2T6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:53,208,987...53,209,946
Ensembl chr 2:53,209,020...53,209,946 		JBrowse link
G LOC100623714 olfactory receptor 2T4-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:53,235,454...53,236,416 JBrowse link
G LOC100624683 olfactory receptor 2W3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:55,810,043...55,810,972
Ensembl chr 2:55,810,043...55,810,972 		JBrowse link
G LOC100624876 olfactory receptor 13G1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,402,657...56,403,580
Ensembl chr 2:56,402,657...56,403,580 		JBrowse link
G LOC100737570 olfactory receptor 2C3-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,767,973...56,768,920
Ensembl chr 2:56,760,602...56,769,511 		JBrowse link
G LOC100737613 olfactory receptor 2G2-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,631,761...56,632,714
Ensembl chr 2:56,631,761...56,632,714 		JBrowse link
G LOC100739823 olfactory receptor 11L1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:55,853,519...55,854,490
Ensembl chr 2:55,853,477...55,854,490 		JBrowse link
G LOC102163216 olfactory receptor 2AK2-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:55,749,194...55,750,123 JBrowse link
G LOC110259584 olfactory receptor 2T2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:53,126,795...53,127,763 JBrowse link
G LOC110259735 olfactory receptor 2T29-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:52,699,316...52,700,278 JBrowse link
G LOC110259736 olfactory receptor 2T11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:53,142,040...53,142,999 JBrowse link
G LYPD8 LY6/PLAUR domain containing 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:52,447,149...52,458,070
Ensembl chr 2:52,447,144...52,458,059 		JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:15,371,182...15,379,067
Ensembl chr10:15,372,879...15,379,172 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr16:22,152,455...22,364,373
Ensembl chr16:22,152,469...22,363,821 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
G PGBD2 piggyBac transposable element derived 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:52,169,715...52,211,373
Ensembl chr 2:52,170,931...52,211,098 		JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:15,420,600...15,723,890
Ensembl chr10:15,420,608...15,723,479 		JBrowse link
G SCCPDH saccharopine dehydrogenase (putative) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:15,205,644...15,264,416
Ensembl chr10:15,205,648...15,264,489 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:16,191,178...16,441,828
Ensembl chr10:16,191,156...16,441,815 		JBrowse link
G SH3BP5L SH3 binding domain protein 5 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:52,323,009...52,337,198
Ensembl chr 2:52,323,048...52,339,665 		JBrowse link
G SMYD3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:18,267,598...19,019,520
Ensembl chr10:18,267,189...19,019,642 		JBrowse link
G SPMIP3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:17,198,860...17,215,195
Ensembl chr10:17,193,994...17,215,443 		JBrowse link
G TFB2M transcription factor B2, mitochondrial ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:19,028,813...19,046,343
Ensembl chr10:19,028,820...19,046,327 		JBrowse link
G TRIM58 tripartite motif containing 58 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:55,822,361...55,843,923
Ensembl chr 2:55,821,915...55,860,382 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr10:16,913,022...16,921,722
Ensembl chr10:16,913,025...16,920,586 		JBrowse link
G ZNF496 zinc finger protein 496 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:57,053,417...57,097,831
Ensembl chr 2:57,053,652...57,097,828 		JBrowse link
G ZNF672 zinc finger protein 672 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:52,297,668...52,313,291
Ensembl chr 2:52,297,673...52,312,332 		JBrowse link
G ZNF692 zinc finger protein 692 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 2:52,288,641...52,297,155
Ensembl chr 2:52,284,193...52,296,973 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      electroclinical syndrome 1317
        developmental and epileptic encephalopathy 961
          developmental and epileptic encephalopathy 54 57
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            epilepsy 2736
              electroclinical syndrome 1317
                neonatal period electroclinical syndrome 934
                  early infantile epileptic encephalopathy 913
                    developmental and epileptic encephalopathy 54 57
paths to the root