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corneal dystrophy, Fuchs endothelial, 8

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.
Uniprot Description A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
Mondo Term and Equivalent IDs
MONDO:0014228:  corneal dystrophy, Fuchs endothelial, 8
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found