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Disease Ontology Browser
2-aminoadipic 2-oxoadipic aciduria (DOID:0111453)
Alliance: disease page
Synonyms: alpha-aminoadipic aciduria; AMOXAD
Alt IDs: OMIM:204750, ORDO:79154
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory