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Congenital Hereditary Endothelial Dystrophy Of Cornea (MONDO:0009019)

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.

Overview

Category

disorder of orbital region

disorder of visual system

Ontology ID

MONDO:0009019

Internal:10272

Synonyms

CHED

CHED2

CHEDII

autosomal recessive CHED

autosomal recessive congenital hereditary endothelial dystrophy

congenital hereditary endothelial dystrophy of cornea

congenital hereditary endothelial dystrophy type 2

corneal endothelial dystrophy, autosomal recessive

infantile hereditary endothelial dystrophy

CHED2, formerly

congenital hereditary endothelial dystrophy of the cornea

congenital hereditary endothelial dystrophy type II

corneal dystrophy, congenital hereditary endothelial

corneal endothelial dystrophy

corneal endothelial dystrophy 2

corneal endothelial dystrophy 2, autosomal recessive

corneal endothelial dystrophy 2, autosomal recessive, formerly

corneal endothelial dystrophy type 2

Mapped terms

DOID:0060649

GARD:0006196

MEDGEN:387857

MESH:C536439

OMIM:217700

Orphanet:293603

UMLS:C1857569

Child terms

Unknown children.

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