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Genetic Diseases, Inborn
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Definition
: 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.
GEN only: prefer /genet with specific diseases; Manual 23.22+; Manual 19.8.34
See Also
Genetics, Medical
Examples
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
;
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
Other names
Single-
Gene Defect; Single Gene Defects; Inborn Genetic Disease; Genetic Disease, Inborn; Diseases, Inborn Genetic; Diseases, Hereditary; Disease, Inborn Genetic; Disease, Hereditary; Defects, Single-
Gene; Defect, Single-
Gene; Single-
Gene Defects; Inborn Genetic Diseases; Hereditary Disease; Hereditary Diseases
