Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Mesh term Genetic Diseases, Inborn

Browse to parent terms:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities


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.

Browse to child terms:
Adrenal Hyperplasia, Congenital
Alagille Syndrome
Anemia, Hemolytic, Congenital
Anemia, Hypoplastic, Congenital
Angioedemas, Hereditary
Ataxia Telangiectasia
Autoimmune Lymphoproliferative Syndrome
Blood Coagulation Disorders, Inherited
Brugada Syndrome
CHARGE Syndrome
Camurati-Engelmann Syndrome
Cardiomyopathy, Hypertrophic, Familial
Chromosome Disorders
Costello Syndrome
Cystic Fibrosis
Donohue Syndrome
Eye Diseases, Hereditary
Familial Multiple Lipomatosis
Frasier Syndrome
Genetic Diseases, X-Linked
Genetic Diseases, Y-Linked
Hajdu-Cheney Syndrome
Hereditary Autoinflammatory Diseases
Heredodegenerative Disorders, Nervous System
Hyper-IgM Immunodeficiency Syndrome
Hyperthyroxinemia, Familial Dysalbuminemic
Kallmann Syndrome
Kartagener Syndrome
Lennox Gastaut Syndrome
Loeys-Dietz Syndrome
Marfan Syndrome
Metabolism, Inborn Errors
Muscular Dystrophies
Myasthenic Syndromes, Congenital
Nail-Patella Syndrome
Neoplastic Syndromes, Hereditary
Oculocerebrorenal Syndrome
Orofaciodigital Syndromes
Osteoarthropathy, Primary Hypertrophic
Osteogenesis Imperfecta
Pain Insensitivity, Congenital
Pelger-Huet Anomaly
Polycystic Kidney Diseases
Skin Diseases, Genetic
Werner Syndrome
Yellow Nail Syndrome
alpha 1-Antitrypsin Deficiency

Search for this term in our Faculty Database

View this term at the NCBI website