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Hereditary methemoglobinemia

Disease definition

A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).

ORPHA:621

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive methemoglobinemia
    • Congenital methemoglobinemia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D74.0
  • OMIM: 250700  250790  250800
  • UMLS: C0272087
  • MeSH: -
  • GARD: 2659
  • MedDRA: -
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