Disease association ontology term - MONDO:0009448 - iminoglycinuria
Term summary
- ID
- MONDO:0009448
- Name
- iminoglycinuria
- Ontology or CV name
- Disease association
- Definition
- A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.
