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
Accession: DOID:0080453
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:26467025 PMID:26960556 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28327206 PMID:28492532 PMID:28673551 PMID:30054523 PMID:31780880 PMID:32551328 PMID:33040525 PMID:33063863 PMID:33258288 PMID:34233239 PMID:34489640 More...
NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
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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
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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
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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
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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
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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
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