Trait
2-hydroxyadipic aciduria
The concentration of 2-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Summary
- Also called
- 2-hydroxyadipic acid high in urine
Reference genomeGRCh38hg38
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Get my Genome Test1 gene linked to 2-hydroxyadipic aciduria
Changes in these genes cause rare conditions in which 2-hydroxyadipic aciduria is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Always | In 2 conditions |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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