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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 25
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Accession:DOID:0080453 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: DEE25;   EIEE25;   developmental and epileptic encephalopathy 25 with amelogenesis imperfecta;   early infantile epileptic encephalopathy 25;   early infantile epileptic encephalopathy 25 with amelogenesis imperfecta
 primary_id: OMIM:615905
 xref: GARD:12901;   NCI:C168597


show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617 		JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974 		JBrowse link
G C10h17orf100 similar to human chromosome 17 open reading frame 100 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,840,451...56,843,674
Ensembl chr10:56,832,412...56,843,871 		JBrowse link
G C10h17orf49 similar to human chromosome 17 open reading frame 49 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G C1qbp complement C1q binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,699,954...55,704,605
Ensembl chr10:55,699,954...55,704,649 		JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435 		JBrowse link
G Derl2 derlin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,727,764...55,739,442
Ensembl chr10:55,727,643...55,739,518 		JBrowse link
G Dhx33 DEAH-box helicase 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,708,102...55,724,618
Ensembl chr10:55,705,756...55,724,567 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906 		JBrowse link
G Med31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,836,944...56,840,326
Ensembl chr10:56,836,944...56,840,326 		JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mis12 MIS12 kinetochore complex component ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,739,741...55,747,915
Ensembl chr10:55,739,564...55,751,068 		JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257 		JBrowse link
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584 		JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G Rpain RPA interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,692,410...55,699,910
Ensembl chr10:55,692,417...55,699,933 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10615133 PMID:15249368 PMID:15347646 PMID:16199547 More... NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945 		JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915 		JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572 		JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,832,749...56,835,721 JBrowse link
G Wscd1 WSC domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,385,858...56,426,442
Ensembl chr10:56,395,874...56,424,677 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770 		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 25 31
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
                neonatal period electroclinical syndrome 952
                  early infantile epileptic encephalopathy 931
                    developmental and epileptic encephalopathy 25 31
paths to the root