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 Medical Concepts
  Diseases
 Congenital, Hereditary, and Neonatal Diseases and Abnormalities
 Genetic Diseases, Inborn
 Adrenal Hyperplasia, Congenital
 Alagille Syndrome
 alpha 1-Antitrypsin Deficiency
 Anemia, Hemolytic, Congenital
 Anemia, Hypoplastic, Congenital
 Angioedemas, Hereditary
 Ataxia Telangiectasia
 Autoimmune Lymphoproliferative Syndrome
 Blood Coagulation Disorders, Inherited
 Brugada Syndrome
 CADASIL
 Camurati-Engelmann Syndrome
 Cardiomyopathy, Hypertrophic, Familial
 CHARGE Syndrome
 Cherubism
 Chromosome Disorders
 Costello Syndrome
 Cystic Fibrosis
 Donohue Syndrome
 Dwarfism
 Achondroplasia
 Cockayne Syndrome
 Congenital Hypothyroidism
 Laron Syndrome
 Mulibrey Nanism
 Silver-Russell Syndrome
 Eye Diseases, Hereditary
 Frasier Syndrome
 Genetic Diseases, X-Linked
 Genetic Diseases, Y-Linked
 Hajdu-Cheney Syndrome
 Hemoglobinopathies
 Hereditary Autoinflammatory Diseases
 Heredodegenerative Disorders, Nervous System
 Hyperthyroxinemia, Familial Dysalbuminemic
 Kallmann Syndrome
 Kartagener Syndrome
 Loeys-Dietz Syndrome
 Marfan Syndrome
 Metabolism, Inborn Errors
 Muscular Dystrophies
 Myasthenic Syndromes, Congenital
 Nail-Patella Syndrome
 Neoplastic Syndromes, Hereditary
 Osteogenesis Imperfecta
 Pain Insensitivity, Congenital
 Pelger-Huet Anomaly
 Polycystic Kidney, Autosomal Recessive
 Pycnodysostosis
 Skin Diseases, Genetic
 Weill-Marchesani Syndrome
 Werner Syndrome
 Yellow Nail Syndrome

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