About   Help   FAQ
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 DHTKD1 on chromosome 10p14.


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/10/2020
MGI 6.16
The Jackson Laboratory