has material basis in germline mutation in SLC4A11 corneal endothelial dystrophy hereditary disease congenital hereditary endothelial dystrophy of cornea https://github.com/monarch-initiative/mondo/issues/1368 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2 MEDGEN:387857 corneal endothelial dystrophy 2 CHED2 DOID:0060649 MESH:C536439 GARD:0006196 corneal endothelial dystrophy type 2 CHED2, formerly corneal dystrophy, congenital hereditary endothelial CHEDII OMIM:217700 congenital hereditary endothelial dystrophy of cornea congenital hereditary endothelial dystrophy of the cornea autosomal recessive congenital hereditary endothelial dystrophy corneal endothelial dystrophy UMLS:C1857569 corneal endothelial dystrophy, autosomal recessive autosomal recessive CHED corneal endothelial dystrophy 2, autosomal recessive Orphanet:293603 A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. MONDO:0009019 corneal endothelial dystrophy 2, autosomal recessive, formerly infantile hereditary endothelial dystrophy CHED congenital hereditary endothelial dystrophy type 2 posterior corneal dystrophy