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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 ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		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 chr12:50,903,358...50,917,187
Ensembl chr12:50,903,358...50,917,111 		JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:52,401,861...52,414,913
Ensembl chr12:52,401,810...52,414,903 		JBrowse link
G ASGR1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:52,536,738...52,540,636
Ensembl chr12:52,536,738...52,544,791 		JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:52,479,404...52,506,569
Ensembl chr12:52,464,689...52,506,574 		JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:52,427,405...52,433,231
Ensembl chr12:52,427,462...52,433,228 		JBrowse link
G C12H17orf100 chromosome 12 C17orf100 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr12:50,644,783...50,728,768 JBrowse link
G C12H17orf49 chromosome 12 C17orf49 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:52,418,989...52,421,938
Ensembl chr12:52,418,984...52,421,935 		JBrowse link
G C1QBP complement C1q binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:51,548,361...51,553,076
Ensembl chr12:51,548,415...51,555,689 		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 chr12:52,461,750...52,464,632 JBrowse link
G DERL2 derlin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:51,508,138...51,524,799
Ensembl chr12:51,507,996...51,524,793 		JBrowse link
G DHX33 DEAH-box helicase 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:51,527,071...51,547,334
Ensembl chr12:51,527,083...51,546,448 		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 chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143 		JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:50,635,915...50,723,841
Ensembl chr12:50,635,905...50,640,213 		JBrowse link
G KIAA0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr12:50,737,158...50,793,187
Ensembl chr12:50,742,773...50,898,331 		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 chr12:50,728,681...50,734,469
Ensembl chr12:50,728,871...50,736,074 		JBrowse link
G MIR195 microRNA mir-195 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:52,422,039...52,422,118
Ensembl chr12:52,422,039...52,422,118 		JBrowse link
G MIS12 MIS12 kinetochore complex component ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:51,505,376...51,508,337
Ensembl chr12:51,505,381...51,507,943 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:51,479,968...51,495,540 JBrowse link
G NUP88 nucleoporin 88 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:51,562,455...51,603,095
Ensembl chr12:51,562,440...51,601,968 		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 chr12:50,898,493...50,903,238
Ensembl chr12:50,898,501...50,903,464 		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 chr12:50,806,302...50,898,316
Ensembl chr12:50,742,773...50,898,331 		JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:52,416,903...52,418,876
Ensembl chr12:52,417,135...52,418,873 		JBrowse link
G RPAIN RPA interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:51,553,130...51,562,419
Ensembl chr12:51,553,131...51,562,743 		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 chr12:50,679,900...50,710,985
Ensembl chr12:50,680,444...50,705,261 		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 chr12:52,434,607...52,442,476
Ensembl chr12:52,439,418...52,442,435 		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 chr12:52,435,519...52,439,631
Ensembl chr12:52,435,537...52,439,994 		JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:50,526,188...50,552,083
Ensembl chr12:50,526,193...50,580,552 		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 chr12:50,734,669...50,737,309
Ensembl chr12:50,734,619...50,737,078 		JBrowse link
G WSCD1 WSC domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr12:51,152,568...51,198,302
Ensembl chr12:51,154,478...51,196,933 		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 25 30
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 25 30
paths to the root