OBO ID: DOID:0111453 |
Term Name: | 2-aminoadipic 2-oxoadipic aciduria | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111453 ) |
OTHER 2-aminoadipic 2-oxoadipic aciduria PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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