Genetic Diseases, Inborn

Subtype terms (57)

More specific conditions that are subtypes of Genetic Diseases, Inborn in the MeSH hierarchy.

• Adrenal Hyperplasia, Congenital

  24 drugs (15 approved, 9 experimental)

• Alagille Syndrome

  6 drugs approved

• alpha 1-Antitrypsin Deficiency

  36 drugs (14 approved, 22 experimental)

• Anemia, Hemolytic, Congenital

  4 drugs approved

• Anemia, Hypoplastic, Congenital

  1 drug experimental

• Ataxia Telangiectasia

  31 drugs (28 approved, 3 experimental)

• Autoimmune Lymphoproliferative Syndrome

  7 drugs (5 approved, 2 experimental)

• Blood Coagulation Disorders, Inherited

  1 drug experimental

• Brugada Syndrome

  5 drugs approved

• CADASIL

  9 drugs (6 approved, 3 experimental)

• Camurati-Engelmann Syndrome
• Cardiomyopathy, Hypertrophic, Familial

  2 drugs (1 approved, 1 experimental)

• CHARGE Syndrome
• Cherubism
• Chromosome Disorders

  5 drugs (4 approved, 1 experimental)

• Ciliopathies
• Costello Syndrome
• Cystic Fibrosis

  329 drugs (163 approved, 166 experimental)

• Donohue Syndrome
• Dwarfism

  6 drugs (5 approved, 1 experimental)

• Eye Diseases, Hereditary

  35 drugs (18 approved, 17 experimental)

• Familial Multiple Lipomatosis
• Frasier Syndrome
• GATA2 Deficiency

  13 drugs (8 approved, 5 experimental)

• Genetic Diseases, X-Linked

  11 drugs (3 approved, 8 experimental)

• Genetic Diseases, Y-Linked
• Hajdu-Cheney Syndrome
• Hemoglobinopathies

  42 drugs (27 approved, 15 experimental)

• Hereditary Autoinflammatory Diseases

  5 drugs (3 approved, 2 experimental)

• Heredodegenerative Disorders, Nervous System

  4 drugs (2 approved, 2 experimental)

• Hyper-IgM Immunodeficiency Syndrome

  8 drugs (7 approved, 1 experimental)

• Hyperthyroxinemia, Familial Dysalbuminemic
• Imprinting Disorders
• Kallmann Syndrome

  12 drugs (7 approved, 5 experimental)

• Kartagener Syndrome

  7 drugs approved

• Laminopathies
• Lennox Gastaut Syndrome

  14 drugs (7 approved, 7 experimental)

• Loeys-Dietz Syndrome
• Marfan Syndrome

  9 drugs approved

• Metabolism, Inborn Errors

  28 drugs (14 approved, 14 experimental)

• Muscular Dystrophies

  44 drugs (19 approved, 25 experimental)

• Myasthenic Syndromes, Congenital

  5 drugs (3 approved, 2 experimental)

• Nail-Patella Syndrome
• Neoplastic Syndromes, Hereditary

  14 drugs (13 approved, 1 experimental)

• Oculocerebrorenal Syndrome
• Orofaciodigital Syndromes
• Osteoarthropathy, Primary Hypertrophic

  1 drug experimental

• Osteochondrodysplasias

  1 drug experimental

• Osteogenesis Imperfecta

  25 drugs (17 approved, 8 experimental)

• Pain Insensitivity, Congenital

  2 drugs approved

• Pelger-Huet Anomaly
• Primary Immunodeficiency Diseases

  83 drugs (45 approved, 38 experimental)

• Pycnodysostosis
• Renal Tubular Transport, Inborn Errors
• Skin Diseases, Genetic

  8 drugs (6 approved, 2 experimental)

• Werner Syndrome

  2 drugs (1 approved, 1 experimental)

• Yellow Nail Syndrome

Drugs by status

Organizations