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Renal coloboma syndrome

Disease definition

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

ORPHA:1475

  • Synonym(s):
    • Coloboma of optic nerve with renal disease
    • Papillo-renal syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q60.4
  • OMIM: 120330
  • UMLS: C1852759
  • MeSH: -
  • GARD: 4106
  • MedDRA: -

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