|OBO ID: DOID:0111453|
|Term Name:||2-aminoadipic 2-oxoadipic aciduria||Search Ontology:|
|Definition:||An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14. https://www.ncbi.nlm.nih.gov/pubmed/23141293|
|Ontology:||Human Disease (DOID:0111453)|
|is a type of:||
OTHER 2-aminoadipic 2-oxoadipic aciduria PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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