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Congenital hereditary endothelial dystrophy type II

Disease definition

Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.

ORPHA:293603

  • Synonym(s):
    • Autosomal recessive CHED
    • Autosomal recessive congenital hereditary endothelial dystrophy
    • CHED2
    • CHEDII
    • Congenital hereditary endothelial dystrophy type 2
    • Infantile hereditary endothelial dystrophy
    • Maumenee corneal dystrophy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H18.5
  • OMIM: 217700
  • UMLS: -
  • MeSH: -
  • GARD: 6196
  • MedDRA: -

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