OBO ID: DOID:0111453
Term Name: 2-aminoadipic 2-oxoadipic aciduria Search Ontology:
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
is a type of:
OTHER 2-aminoadipic 2-oxoadipic aciduria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DHTKD1 Alpha-aminoadipic and alpha-ketoadipic aciduria 204750
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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