cone-rod dystrophy 6
MONDO:0011143Mondo
Findings
No curated finding names cone-rod dystrophy 6 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 GUCY2D gene.
Definition from the Mondo Disease Ontology (MONDO:0011143), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Chorioretinal atrophyHPOHP:0000533
- 6 of 6 reported patients
- DyschromatopsiaHPOHP:0007641
- 6 of 6 reported patients
- NyctalopiaHPOHP:0000662
- 6 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- PhotophobiaHPOHP:0000613
- 4 of 6 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 3 of 6 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
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.
- GUCY2DHGNC:4689
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
6 names
Resolves to: cone-rod dystrophy 6
- Also called
- cone-rod dystrophy caused by mutation in GUCY2Dcone-rod dystrophy type 6CORD6GUCY2D cone-rod dystrophyRCD2retinal cone dystrophy 2