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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
Frasier Syndrome
Genetic Diseases, X-Linked
Aicardi Syndrome
Androgen-Insensitivity Syndrome
Barth Syndrome
Bulbo-Spinal Atrophy, X-Linked
Choroideremia
Dent Disease
Dyskeratosis Congenita
Ectodermal Dysplasia 1, Anhidrotic
Fabry Disease
Focal Dermal Hypoplasia
Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type VIII
Granulomatous Disease, Chronic
Hemophilia B
Hyper-IgM Immunodeficiency Syndrome, Type 1
Hypophosphatemic Rickets, X-Linked Dominant
Ichthyosis, X-Linked
Isolated Noncompaction of the Ventricular Myocardium
Mental Retardation, X-Linked
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery-Dreifuss
Oculocerebrorenal Syndrome
Ornithine Carbamoyltransferase Deficiency Disease
Pelizaeus-Merzbacher Disease
Wiskott-Aldrich Syndrome
X-Linked Combined Immunodeficiency Diseases
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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