hydroxyprolinemia
MONDO:0009374Mondo
Findings
No curated finding names hydroxyprolinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- PRODH2HGNC:17325
- Limited · ClinGen · Autosomal recessive · 2026
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: hydroxyprolinemia
- Also called
- hydroxyprolinemia (disease)