RPGR-related retinopathy
MONDO:0100437Mondo
Findings
No curated finding names RPGR-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A retinopathy caused by a variant in the X-linked gene, RPGR.
Definition from the Mondo Disease Ontology (MONDO:0100437), read 2026-09-29. CC BY 4.0.
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.
- RPGRHGNC:10295
- Definitive · ClinGen · X-linked · 2026
Where it sits
- A kind of
Other names
2 names
Resolves to: RPGR-related retinopathy
- Also called
- RPGR retinopathyRPGR-related retinopathy with or without sino-oto-pulmonary symptoms