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GENE - TERM ANNOTATION REPORT

RGD ID: 619719
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mdh2
Name: malate dehydrogenase 2
Acc ID: DOID:0080433
Term: developmental and epileptic encephalopathy 51
Definition: A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27989324 "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)
Mdh2 ISOMDH2 (Homo sapiens)7240710OMIM  
Mdh2 ISOMDH2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 | ClinVar Annotator: match by term: MDH2-related conditionPMID:17576681 PMID:25741868 PMID:27989324 PMID:28492532 PMID:30008476 PMID:34712577 PMID:34718610 PMID:36420423 PMID:9536098
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