cone-rod dystrophy 10
MONDO:0012464Mondo
Findings
No curated finding names cone-rod dystrophy 10 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 SEMA4A gene.
Definition from the Mondo Disease Ontology (MONDO:0012464), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- EpiphoraHPOHP:0009926
- Macular degenerationHPOHP:0000608
- NyctalopiaHPOHP:0000662
- Peripheral visual field lossHPOHP:0007994
- PhotophobiaHPOHP:0000613
- Progressive visual lossHPOHP:0000529
- Rod-cone dystrophyHPOHP:0000510
- Spicular pigmentation of the retinaHPOHP:0007737
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.
- SEMA4AHGNC:10729
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: cone-rod dystrophy 10
- Also called
- cone-rod dystrophy caused by mutation in SEMA4Acone-rod dystrophy type 10CORD10SEMA4A cone-rod dystrophy