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Donohue Syndrome

Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.

Year introduced: 2010

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Tree Number(s): C05.660.207.325, C16.131.077.313, C16.320.215, C18.452.394.750.654, C19.246.537

MeSH Unique ID: D056731

Entry Terms:

  • Syndrome, Donohue
  • Leprechaunism
  • Leprechaunisms
  • Rabson-Mendenhall Syndrome
  • Rabson Mendenhall Syndrome
  • Syndrome, Rabson-Mendenhall
  • Mendenhall Syndrome
  • Syndrome, Mendenhall
  • Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities

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