2-Aminoadipic 2-Oxoadipic Aciduria
Disease ID: disease_node_20521
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:204750, ORDO:79154 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | AMOXAD, alpha-aminoadipic aciduria |
| Doid Label | 2-aminoadipic 2-oxoadipic aciduria |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20521 |
| Doid Id | DOID_0111453 |
| Label | 2-Aminoadipic 2-Oxoadipic Aciduria |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)