retinitis pigmentosa 39
MONDO:0013436Mondo
Findings
No curated finding names retinitis pigmentosa 39 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.
Definition from the Mondo Disease Ontology (MONDO:0013436), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Rod-cone dystrophyHPOHP:0000510
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.
- USH2AHGNC:12601
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 39
- Also called
- retinitis pigmentosa caused by mutation in USH2Aretinitis pigmentosa type 39RP39USH2A retinitis pigmentosa