| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha-aminoadipic aciduria [EXACT] AMOXAD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |