Other terms
Disease, Inborn Genetic,Diseases, Inborn Genetic,Genetic Disease, Inborn,Inborn Genetic Disease,Inborn Genetic Diseases,Single-Gene Defects,Defect, Single-Gene,Defects, Single-Gene,Single Gene Defects,Single-Gene Defect,Hereditary Diseases,Hereditary Disease,Disease, Hereditary,Diseases, Hereditary
Description
Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
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- Adrenal Hyperplasia, Congenital
- Pain Insensitivity, Congenital
- Anemia, Hemolytic, Congenital
- Ataxia Telangiectasia
- Cherubism
- Cystic Fibrosis
- Camurati-Engelmann Syndrome
- Dwarfism
- Hemoglobinopathies
- Kartagener Syndrome
- Marfan Syndrome
- Metabolism, Inborn Errors
- Muscular Dystrophies
- Nail-Patella Syndrome
- Neoplastic Syndromes, Hereditary
- Osteogenesis Imperfecta
- Skin Diseases, Genetic
- Werner Syndrome
- Eye Diseases, Hereditary
- Alagille Syndrome
- Kallmann Syndrome
- Heredodegenerative Disorders, Nervous System
- Myasthenic Syndromes, Congenital
- Cardiomyopathy, Hypertrophic, Familial
- Chromosome Disorders
- Blood Coagulation Disorders, Inherited
- Anemia, Hypoplastic, Congenital
- Hajdu-Cheney Syndrome
- Genetic Diseases, X-Linked
- CADASIL
- Hyperthyroxinemia, Familial Dysalbuminemic
- Genetic Diseases, Y-Linked
- Brugada Syndrome
- Angioedemas, Hereditary
- Loeys-Dietz Syndrome
- Hereditary Autoinflammatory Diseases
- Yellow Nail Syndrome
- Costello Syndrome
- Donohue Syndrome
- Autoimmune Lymphoproliferative Syndrome
- Weill-Marchesani Syndrome
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