Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Donohue Syndrome
Endocrine System Diseases > Diabetes Mellitus > Donohue Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Glucose Metabolism Disorders > Diabetes Mellitus > Donohue Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Donohue Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Donohue Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Donohue Syndrome

Preferred term

Donohue Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Leprechaunism
  • Leprechaunisms

Scope note

  • 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.

History note

  • 2010

In other languages

URI

http://www.yso.fi/onto/mesh/D056731

Download this concept:

RDF/XML TURTLE JSON-LD Created 7/6/09, last modified 7/3/12