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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: MIM: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 chr10:57,282,433...57,331,259
Ensembl chr10:57,281,439...57,331,259 		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 chr10:55,231,558...55,236,786
Ensembl chr10:55,231,440...55,236,750 		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 chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,456,923...55,469,239
Ensembl chr10:55,456,928...55,469,199 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,274,299...55,278,323
Ensembl chr10:55,274,706...55,278,322 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,320,082...55,333,294
Ensembl chr10:55,320,091...55,333,263 		JBrowse link
G Bacc1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,450,648...55,453,409
Ensembl chr10:55,450,250...55,453,311 		JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,439,566...55,444,631
Ensembl chr10:55,432,382...55,444,631 		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 chr10:57,339,186...57,342,233
Ensembl chr10:57,337,035...57,341,474 		JBrowse link
G C1qbp complement C1q binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,198,534...56,203,185
Ensembl chr10:56,198,540...56,203,235 		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 chr10:55,374,914...55,379,110
Ensembl chr10:55,374,887...55,379,108 		JBrowse link
G Derl2 derlin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,226,340...56,238,038
Ensembl chr10:56,226,219...56,237,993 		JBrowse link
G Dhx33 DEAH-box helicase 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,206,680...56,223,189
Ensembl chr10:56,206,680...56,223,143 		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 chr10:55,239,397...55,267,780
Ensembl chr10:55,236,869...55,265,839 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:57,428,259...57,433,468
Ensembl chr10:57,430,848...57,433,467 		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 chr10:57,335,507...57,338,889
Ensembl chr10:57,335,507...57,338,889 		JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,450,495...55,450,581
Ensembl chr10:55,450,495...55,450,581 		JBrowse link
G Mis12 MIS12 kinetochore complex component ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,238,317...56,246,491
Ensembl chr10:56,238,181...56,253,800 		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 chr10:56,277,134...56,332,229
Ensembl chr10:56,277,134...56,323,880 		JBrowse link
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,166,486...56,190,829
Ensembl chr10:56,166,486...56,191,383 		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 chr10:57,168,136...57,173,713
Ensembl chr10:57,167,797...57,173,063 		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 chr10:57,173,230...57,265,186
Ensembl chr10:57,175,721...57,265,291 		JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:55,453,561...55,455,279
Ensembl chr10:55,453,563...55,455,279 		JBrowse link
G Rpain RPA interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,190,975...56,198,490
Ensembl chr10:56,190,967...56,199,685 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO 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
ClinVar		 PMID:9536098 PMID:10615133 PMID:15249368 PMID:15347646 PMID:16199547 More... NCBI chr10:57,364,806...57,389,500
Ensembl chr10:57,364,806...57,389,516 		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 chr10:55,427,773...55,431,678
Ensembl chr10:55,427,903...55,431,678 		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 chr10:55,424,633...55,436,555 JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:57,450,712...57,479,121
Ensembl chr10:57,450,715...57,479,121 		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 chr10:57,331,312...57,334,284
Ensembl chr10:57,331,312...57,334,284 		JBrowse link
G Wscd1 WSC domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:56,884,404...56,924,013
Ensembl chr10:56,884,583...56,924,013 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr10:57,415,935...57,428,348
Ensembl chr10:57,415,658...57,428,349 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11436
      electroclinical syndrome 1514
        developmental and epileptic encephalopathy 1139
          developmental and epileptic encephalopathy 25 31
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18458
      nervous system disease 14370
        central nervous system disease 12648
          brain disease 11868
            epilepsy 2945
              electroclinical syndrome 1514
                neonatal period electroclinical syndrome 1111
                  early infantile epileptic encephalopathy 1090
                    developmental and epileptic encephalopathy 25 31
paths to the root