Narrower Terms (33)

• ▶ Adenomatosis, Familial endocrine
• Agenesis of corpus callosum
• Alpha 1-antitrypsin deficiency
• Alport's syndrome
• ▶ Ataxia telangiectasia
• Axenfeld-Rieger syndrome
• Basal cell nevus syndrome
• Charcot-Marie-Tooth disease
• Cowden syndrome
• Cystic fibrosis
• Dysfibrinogenemia
• Ehlers-Danlos syndrome
• Epidermolysis bullosa
• Fanconi's anemia
• Fatal familial insomnia
• Fibrodysplasia ossificans progressiva
• Friedreich's ataxia
• ▶ Human chromosome abnormalities
• Huntington's disease
• Klein-Waardenburg syndrome
• Laurence-Moon-Biedl syndrome
• Lipomembranous polycystic osteodysplasia
• Marfan syndrome
• ▶ Metabolism, Inborn errors of
• Mitochondrial DNA--Abnormalities
• ▶ Muscular dystrophy
• Norrie's disease
• ▶ Phakomatoses
• Severe combined immunodeficiency
• Stickler syndrome
• Usher's syndrome
• Velocardiofacial syndrome
• Von Willebrand disease