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GENE - TERM ANNOTATION REPORT

RGD ID: 1307976
Species: Rattus norvegicus
RGD Object: Gene
Symbol: D2hgdh
Name: D-2-hydroxyglutarate dehydrogenase
Acc ID: DOID:0050575
Term: D-2-hydroxyglutaric aciduria
Definition: An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "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)
D2hgdh ISOD2HGDH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: D-2-hydroxyglutaric aciduriaPMID:18414213 PMID:25741868 PMID:28492532
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