cone-rod dystrophy 7
MONDO:0011355Mondo
Findings
No curated finding names cone-rod dystrophy 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Retinal flecksHPOHP:0012045
- 0 of 9 reported patients
- Bull's eye maculopathyHPOHP:0011504
- Color vision defectHPOHP:0000551
- Young adult onset
- Cone/cone-rod dystrophyHPOHP:0000548
- Macular atrophyHPOHP:0007401
- Visual impairmentHPOHP:0000505
- Adult onset
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.
- RIMS1HGNC:17282
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2018
- Disputed Evidence · Illumina · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: cone-rod dystrophy 7
- Also called
- cone-rod dystrophy type 7CORD7