primary hyperoxaluria

Findings

No curated finding names primary hyperoxaluria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• inborn carbohydrate metabolic disorder

Narrower terms (3)

• primary hyperoxaluria type 1
• primary hyperoxaluria type 2
• primary hyperoxaluria type 3

Resolves to: primary hyperoxaluria

Also called

hyperoxaluria, primary