Visualize Submit Comment

Metadata
ID	DOID:0111453
Name	2-aminoadipic 2-oxoadipic aciduria
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. https://www.ncbi.nlm.nih.gov/pubmed/23141293
Xrefs	OMIM:204750 ORDO:79154
Subsets	DO_rare_slim
Synonyms	alpha-aminoadipic aciduria [EXACT] AMOXAD [EXACT]
Parent Relationships	is_a amino acid metabolic disorder is_a autosomal recessive disease