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Traits

Traits linked to XDH

xanthine dehydrogenase

The Human Phenotype Ontology links 10 traits to XDH, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHow often it is seen
HyperxanthinemiaAlways
Low blood uric acid levelsAlways
Reduced circulating xanthine oxidase activityAlways
Reduced xanthine dehydrogenase levelNot recorded
XanthinuriaNot recorded

Abnormality of the genitourinary system

TraitHow often it is seen
Impaired renal uric acid clearanceAlways
HydronephrosisNot recorded
PyelonephritisNot recorded
Xanthine nephrolithiasisNot recorded

Abnormality of the musculoskeletal system

TraitHow often it is seen
Muscle tissue diseaseNot recorded

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.

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to XDH and how often each is seen. Find out more at hpo.jax.org.

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