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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
 Eye Diseases, Hereditary
 Aicardi Syndrome
 Albinism
 Aniridia
 Choroideremia
 Corneal Dystrophies, Hereditary
 Duane Retraction Syndrome
 Gyrate Atrophy
 Optic Atrophies, Hereditary
 Retinal Dysplasia
 Retinitis Pigmentosa
 Vitelliform Macular Dystrophy
 Weill-Marchesani Syndrome
 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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