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Obesity due to pro-opiomelanocortin deficiency

Disease definition

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

ORPHA:71526

  • Synonym(s):
    • POMC deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E66.8
  • OMIM: 601665  609734
  • UMLS: C1857854
  • MeSH: -
  • GARD: 10823
  • MedDRA: -

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