nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
MONDO:0958191Mondo
Findings
No curated finding names nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 features
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.
- NephrocalcinosisHPOHP:0000121
- 6 of 11 reported patients
- HyperoxaluriaHPOHP:0003159
- 5 of 11 reported patients
- Kidney stoneHPOHP:0000787
- 5 of 11 reported patients
- HypocitraturiaHPOHP:0012405
- 4 of 11 reported patients
Genes
1 gene
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.
- OXGR1HGNC:4531
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of