corneal dystrophy, Fuchs endothelial, 1
MONDO:0007637Mondo
Findings
No curated finding names corneal dystrophy, Fuchs endothelial, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007637), read 2026-09-29. CC BY 4.0.
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.
- COL8A2HGNC:2216
- Strong · G2P · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
3 names
Resolves to: corneal dystrophy, Fuchs endothelial, 1
- Also called
- COL8A2 Fuchs' endothelial dystrophycorneal dystrophy, Fuchs endothelial, type 1Fuchs' endothelial dystrophy caused by mutation in COL8A2