DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Fetal Diseases [C16.300] Fetal Diseases Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Adrenal Hyperplasia, Congenital [C16.320.033] Adrenal Hyperplasia, Congenital Alagille Syndrome [C16.320.051] Alagille Syndrome alpha 1-Antitrypsin Deficiency [C16.320.060] alpha 1-Antitrypsin Deficiency Anemia, Hemolytic, Congenital [C16.320.070] Anemia, Hemolytic, Congenital Anemia, Hypoplastic, Congenital [C16.320.077] Anemia, Hypoplastic, Congenital Ataxia Telangiectasia [C16.320.080] Ataxia Telangiectasia Autoimmune Lymphoproliferative Syndrome [C16.320.089] Autoimmune Lymphoproliferative Syndrome Blood Coagulation Disorders, Inherited [C16.320.099] Blood Coagulation Disorders, Inherited Brugada Syndrome [C16.320.100] Brugada Syndrome CADASIL [C16.320.129] CADASIL Camurati-Engelmann Syndrome [C16.320.144] Camurati-Engelmann Syndrome Cardiomyopathy, Hypertrophic, Familial [C16.320.160] Cardiomyopathy, Hypertrophic, Familial CHARGE Syndrome [C16.320.165] CHARGE Syndrome Cherubism [C16.320.170] Cherubism Chromosome Disorders [C16.320.180] Chromosome Disorders Ciliopathies [C16.320.184] Ciliopathies Costello Syndrome [C16.320.188] Costello Syndrome Cystic Fibrosis [C16.320.190] Cystic Fibrosis Donohue Syndrome [C16.320.215] Donohue Syndrome Dwarfism [C16.320.240] Dwarfism Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Familial Multiple Lipomatosis [C16.320.298] Familial Multiple Lipomatosis Frasier Syndrome [C16.320.306] Frasier Syndrome GATA2 Deficiency [C16.320.314] GATA2 Deficiency Genetic Diseases, X-Linked [C16.320.322] Genetic Diseases, X-Linked Genetic Diseases, Y-Linked [C16.320.338] Genetic Diseases, Y-Linked Hajdu-Cheney Syndrome [C16.320.355] Hajdu-Cheney Syndrome Hemoglobinopathies [C16.320.365] Hemoglobinopathies Hereditary Autoinflammatory Diseases [C16.320.382] Hereditary Autoinflammatory Diseases Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Hyper-IgM Immunodeficiency Syndrome [C16.320.413] Hyper-IgM Immunodeficiency Syndrome Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427] Hyperthyroxinemia, Familial Dysalbuminemic Imprinting Disorders [C16.320.447] Imprinting Disorders Kallmann Syndrome [C16.320.467] Kallmann Syndrome Kartagener Syndrome [C16.320.480] Kartagener Syndrome Laminopathies [C16.320.488] Laminopathies Lennox Gastaut Syndrome [C16.320.495] Lennox Gastaut Syndrome Loeys-Dietz Syndrome [C16.320.510] Loeys-Dietz Syndrome Marfan Syndrome [C16.320.540] Marfan Syndrome Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Muscular Dystrophies [C16.320.577] Muscular Dystrophies Myasthenic Syndromes, Congenital [C16.320.590] Myasthenic Syndromes, Congenital Nail-Patella Syndrome [C16.320.600] Nail-Patella Syndrome Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Oculocerebrorenal Syndrome [C16.320.709] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.320.714] Orofaciodigital Syndromes Osteoarthropathy, Primary Hypertrophic [C16.320.718] Osteoarthropathy, Primary Hypertrophic Osteochondrodysplasias [C16.320.728] Osteochondrodysplasias Osteogenesis Imperfecta [C16.320.737] Osteogenesis Imperfecta Pain Insensitivity, Congenital [C16.320.775] Pain Insensitivity, Congenital Pelger-Huet Anomaly [C16.320.784] Pelger-Huet Anomaly Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Pycnodysostosis [C16.320.812] Pycnodysostosis Renal Tubular Transport, Inborn Errors [C16.320.831] Renal Tubular Transport, Inborn Errors Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Werner Syndrome [C16.320.925] Werner Syndrome Yellow Nail Syndrome [C16.320.962] Yellow Nail Syndrome Infant, Newborn, Diseases [C16.614] Infant, Newborn, Diseases

Genetic Diseases, Inborn - Preferred

Concept UI	M0385531
Scope note	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.
Preferred term	Genetic Diseases, Inborn
Entry term(s)	Disease, Inborn Genetic Diseases, Inborn Genetic Genetic Disease, Inborn Inborn Genetic Disease Inborn Genetic Diseases

Hereditary Diseases - Narrower

Concept UI	M0010254
Scope note	Diseases caused by genetic mutations that are inherited from a parent's genome.
Preferred term	Hereditary Diseases
Entry term(s)	Disease, Genetic Disease, Hereditary Diseases, Genetic Diseases, Hereditary Disorder, Genetic Disorders, Genetic Genetic Disease Genetic Diseases Genetic Disorder Genetic Disorders Hereditary Disease

Single-Gene Defects - Related but not broader or narrower

Concept UI	M0010256
Preferred term	Single-Gene Defects
Entry term(s)	Defect, Single-Gene Defects, Single-Gene Single Gene Defects Single-Gene Defect