retinal disorder
MONDO:0005283Mondo
Findings
No curated finding names retinal disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any disease or disorder of the retina.
Definition from the Mondo Disease Ontology (MONDO:0005283), read 2026-09-29. CC BY 4.0.
Genes
6 genes
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.
- HBS1LHGNC:4834
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- SAGHGNC:10521
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- DHX32HGNC:16717
- Limited · Ambry Genetics · Autosomal recessive · 2018
- DSCAML1HGNC:14656
- Limited · Ambry Genetics · Autosomal recessive · 2018
- SYTL4HGNC:15588
- Limited · Ambry Genetics · X-linked · 2018
- TMED7HGNC:24253
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- Located in (Mondo)
- A kind of
- Narrower terms (32)
- achromatopsia
- acute macular neuroretinopathy
- angioid streaks
- autoimmune retinopathy
- bradyopsia
- cancer-associated retinopathy
- central serous chorioretinopathy
- congenital retinal arteriovenous communication
- Eales disease
- hypertensive retinopathy
- inherited vitreoretinopathy
- iris hypoplasia with glaucoma
- isolated chorioretinal dystrophy
- isolated foveal hypoplasia
- macular holes
- melanoma associated retinopathy
- myopic macular degeneration
- night blindness
- osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Other names
3 names
Resolves to: retinal disorder
- Also called
- eye disease of retinaretina eye diseaseretinopathy