cone-rod dystrophy 11
MONDO:0012483Mondo
Findings
No curated finding names cone-rod dystrophy 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012483), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Cone/cone-rod dystrophyHPOHP:0000548
- Macular degenerationHPOHP:0000608
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.
- RAX2HGNC:18286
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: cone-rod dystrophy 11
- Also called
- cone-rod dystrophy caused by mutation in RAX2cone-rod dystrophy type 11CORD11RAX2 cone-rod dystrophy