Search Ontology:
Human Disease
2-aminoadipic 2-oxoadipic aciduria
- Term ID
- DOID:0111453
- Synonyms
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- 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
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- MIM:204750
- ORDO:79154
- Ontology
- Human Disease ( DOID:0111453 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models