Search Ontology:
Human Disease

2-aminoadipic 2-oxoadipic aciduria

Term ID
DOID:0111453
Synonyms
  • alpha-aminoadipic aciduria
  • AMOXAD
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
References
Ontology
Human Disease   ( DOID:0111453 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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