. "disease_ontology"^^ . "OMIM:204750"^^ . . "AMOXAD"@en . "ORDO:79154"^^ . . _:vb50944839 . . _:vb50944839 . "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."^^ . _:vb50944839 . "2-aminoadipic 2-oxoadipic aciduria"^^ . _:vb50944839 . "DOID:0111453"^^ . "alpha-aminoadipic aciduria"@en . _:vb50944839 .