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GENE - TERM ANNOTATION REPORT

RGD ID: 12248301
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: ENG
Name: endoglin
Acc ID: DOID:0050709
Term: early infantile epileptic encephalopathy
Definition: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Ohtahara_syndrome "DO" "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ENG ISOENG (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathyPMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935
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