ZFIN Human Disease: oxoglutarate dehydrogenase deficiency

OBO ID: DOID:0081326

Term Name:	oxoglutarate dehydrogenase deficiency		Search Ontology:
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:	GARD:617 OMIM:203740 ORDO:31
Ontology:	Human Disease ( DOID:0081326 )

Relationships

is a type of:	amino acid metabolic disorder autosomal recessive disease amino acid metabolic disorder autosomal recessive disease Show first 5 Terms

OTHER oxoglutarate dehydrogenase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
OGDH	ogdhb ogdha	Oxoglutarate dehydrogenase deficiency	203740

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None