Congenital hereditary endothelial dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA
MONDO:0009019
SLC4A11 Causal
24351571 17220209 16767101 17679935 20848555 31420327 30856043
ClinVar GWAS catalog
CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE 1
C1562945
OVOL2 Unknown — Disgenet
CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE I
MONDO:0020365
OVOL2 Unknown
26749309
GWAS catalog
CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE II
293603
SLC4A11 Unknown
16767101 24351571
Orphanet