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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



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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 chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
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 chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,026,839...7,041,598
Ensembl chr17:7,014,591...7,029,602
JBrowse link
G ASGR1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,203,387...7,209,602
Ensembl chr17:7,191,076...7,196,992
JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,131,490...7,145,110
Ensembl chr17:7,119,432...7,133,520
JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,053,841...7,061,523
Ensembl chr17:7,042,775...7,046,741
JBrowse link
G C19H17orf100 chromosome 19 C17orf100 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532
G C19H17orf49 chromosome 19 C17orf49 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,045,486...7,048,370
Ensembl chr17:7,033,360...7,036,634
JBrowse link
G C1QBP complement C1q binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,481,114...5,487,482
Ensembl chr17:5,473,239...5,479,735
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 chr17:7,104,887...7,111,883
Ensembl chr17:7,092,968...7,097,462
JBrowse link
G DERL2 derlin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,519,183...5,534,145
Ensembl chr17:5,514,440...5,526,363
JBrowse link
G DHX33 DEAH-box helicase 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,490,642...5,517,192
Ensembl chr17:5,484,093...5,508,926
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 chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985
JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,806,312...6,818,183
Ensembl chr17:6,795,514...6,806,969
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 chr17:6,615,903...6,678,233
Ensembl chr17:6,603,983...6,662,083
JBrowse link
G LOC100995017 XIAP-associated factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,785,040...6,806,177
Ensembl chr17:6,774,951...6,794,947
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 chr17:6,681,675...6,689,115
Ensembl chr17:6,669,582...6,676,882
JBrowse link
G MIS12 MIS12 kinetochore complex component ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,534,305...5,538,736
Ensembl chr17:5,529,017...5,529,634
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 chr17:5,562,129...5,667,765
Ensembl chr17:5,542,007...5,623,091
JBrowse link
G NUP88 nucleoporin 88 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,434,448...5,468,004
Ensembl chr17:5,426,379...5,460,375
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 chr17:6,482,837...6,489,480
Ensembl chr17:6,471,520...6,478,156
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 chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,043,269...7,045,379
Ensembl chr17:7,031,283...7,033,393
JBrowse link
G RPAIN RPA interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,467,978...5,481,219
Ensembl chr17:5,460,277...5,473,568
JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 OMIM
ClinVar
PMID:9536098 PMID:10615133 PMID:15249368 PMID:15347646 PMID:16199547 More... NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
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 chr17:7,072,436...7,075,242 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 chr17:7,066,765...7,071,082
Ensembl chr17:7,055,038...7,059,170
JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,830,517...6,862,596
Ensembl chr17:6,819,230...6,851,014
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 chr17:6,678,375...6,680,902
Ensembl chr17:6,666,067...6,668,475
JBrowse link
G WSCD1 WSC domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,119,168...6,175,306
Ensembl chr17:6,109,559...6,165,369
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    syndrome 10118
      electroclinical syndrome 1356
        developmental and epileptic encephalopathy 994
          developmental and epileptic encephalopathy 25 30
Path 2
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      nervous system disease 13275
        central nervous system disease 11900
          brain disease 11183
            epilepsy 2797
              electroclinical syndrome 1356
                neonatal period electroclinical syndrome 964
                  early infantile epileptic encephalopathy 945
                    developmental and epileptic encephalopathy 25 30
paths to the root