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Optic nerve edema-splenomegaly syndrome

Disease definition

Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.

ORPHA:313800

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 614979
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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