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DOID:0111453 - 2-aminoadipic 2-oxoadipic aciduria
Disease 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 the DHTKD1 gene on chromosome 10p14.
Synonyms: AMOXAD, alpha-aminoadipic aciduria,
Xenbase Genes : dhtkd1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee