Search Ontology:
Human Disease

oxoglutarate dehydrogenase deficiency

Term ID
DOID:0081326
Synonyms
  • alpha-ketoglutarate dehydrogenase deficiency
  • Oxoglutaric aciduria
Definition
An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. https://pubmed.ncbi.nlm.nih.gov/32383294/
References
Ontology
Human Disease   ( DOID:0081326 )
Relationships
is a type of
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Genes Involved
Zebrafish Models