Related MeSH Hierarchy (5)
Diseases [C] » Musculoskeletal Diseases [C05] » Musculoskeletal Abnormalities » Craniofacial Abnormalities » Donohue Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Donohue Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Donohue Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Glucose Metabolism Disorders » Diabetes Mellitus » Donohue Syndrome
Diseases [C] » Endocrine System Diseases [C19] » Diabetes Mellitus » Donohue Syndrome
Description
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. MeSH
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