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Disease Genetic Diseases, Inborn

Name Genetic Diseases, Inborn
Synonyms Defect, Single-Gene | Defects, Single-Gene | Disease, Genetic | Disease, Hereditary | Disease, Inborn Genetic | Diseases, Genetic | Diseases, Hereditary | Diseases, Inborn Genetic | Disorder, Genetic | Disorders, Genetic | Genetic Disease | Genetic Disease, Inborn | Genetic Diseases | Genetic Disorder | Genetic Disorders | Hereditary Disease | Hereditary Diseases | Inborn Genetic Disease | Inborn Genetic Diseases | Single-Gene Defect | Single Gene Defects | Single-Gene Defects
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.
Categories Genetic disease (inborn)
MeSH® ID D030342
External Links

Top ↑ Ancestors

DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references

Top ↑ Descendants

Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
  ACTH Deficiency, Isolated Has associated chemicals Has associated genes Has associated phenotype references
View node Adrenal Hyperplasia, Congenital Has associated chemicals Has associated genes Has associated phenotype references
  Adrenocortical Hypofunction, Chronic Primary Congenital
  Alagille Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Alpha-2-Deficient Collagen Disease
View node alpha 1-Antitrypsin Deficiency Has associated chemicals Has associated genes Has associated phenotype references
View node Anemia, Hemolytic, Congenital Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
View node Anemia, Hypoplastic, Congenital Has associated chemicals Has associated genes Has associated phenotype references
View node Angioedemas, Hereditary Has associated chemicals Has associated genes Has associated phenotype references
View node Ataxia Telangiectasia Has associated chemicals Has associated genes Has associated phenotype references
  Atrial Standstill Has associated chemicals Has associated genes Has associated phenotype references
View node Autoimmune Lymphoproliferative Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Blood Coagulation Disorders, Inherited Has associated chemicals Has associated genes Has associated phenotype references
View node Brugada Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node CADASIL Has associated chemicals Has associated genes Has associated phenotype references
View node Camurati-Engelmann Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Cardiomyopathy, Hypertrophic, Familial Has associated chemicals Has associated genes Has associated phenotype references
  Cerebral Palsy, Ataxic, Autosomal Recessive
  CHARGE Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Cherubism Has associated chemicals Has associated genes Has associated phenotype references
View node Chromosome Disorders Has associated chemicals Has associated genes Has associated phenotype references
View node Ciliopathies Has associated chemicals Has associated genes Has associated phenotype references
  Cirrhosis, Familial Has associated chemicals Has associated genes Has associated phenotype references
  Complement Factor I Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Corticosteroid-Binding Globulin Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Costello Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Cryoglobulinemia, Familial Mixed
View node Cystic Fibrosis Has associated chemicals Has associated genes Has associated phenotype references
View node Donohue Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Dwarfism Has associated chemicals Has associated genes Has associated phenotype references
  Epistaxis, Hereditary
View node Eye Diseases, Hereditary Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
  Familial Multiple Lipomatosis
  Frasier Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  GATA2 Deficiency
View node Genetic Diseases, X-Linked Has associated chemicals Has associated genes Has associated phenotype references
View node Genetic Diseases, Y-Linked Has associated chemicals Has associated genes Has associated phenotype references
  Graves Ophthalmopathy Has associated chemicals Has associated genes Has associated phenotype references
View node Hajdu-Cheney Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Hemoglobinopathies Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
  Hepatic Fibrosis, Congenital Has associated chemicals Has associated genes Has associated phenotype references
View node Hereditary Autoinflammatory Diseases Has associated chemicals Has associated genes Has associated phenotype references
  Hereditary Myopathy with Early Respiratory Failure Has associated chemicals Has associated genes Has associated phenotype references
View node Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Has associated phenotype references
  Histiocytosis, Familial Lipochrome
View node Hyper-IgM Immunodeficiency Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Hyperthyroxinemia, Familial Dysalbuminemic Has associated chemicals Has associated genes Has associated phenotype references
  Interstitial Pneumonitis, Desquamative, Familial
View node Kallmann Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Kartagener Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Lennox Gastaut Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Loeys-Dietz Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Marfan Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
View node Muscular Dystrophies Has associated chemicals Has associated genes Has associated phenotype references
View node Myasthenic Syndromes, Congenital Has associated chemicals Has associated genes Has associated phenotype references
View node Nail-Patella Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
  Neutropenia, Nonimmune Chronic Idiopathic, Adult Has associated chemicals Has associated genes Has associated phenotype references
View node Oculocerebrorenal Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Orofaciodigital Syndromes Has associated chemicals Has associated genes Has associated phenotype references
View node Osteoarthropathy, Primary Hypertrophic Has associated chemicals Has associated genes Has associated phenotype references
View node Osteochondrodysplasias Has associated chemicals Has associated genes Has associated phenotype references
View node Osteogenesis Imperfecta Has associated chemicals Has associated genes Has associated phenotype references
View node Pain Insensitivity, Congenital Has associated chemicals Has associated genes Has associated phenotype references
  Parotidomegaly, Hereditary Bilateral
  Pelger-Huet Anomaly Has associated chemicals Has associated genes Has associated phenotype references
  Platelet Glycoprotein IV Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Prolactin Deficiency, Isolated
  Pulmonary Alveolar Microlithiasis Has associated chemicals Has associated genes Has associated phenotype references
  Pycnodysostosis Has associated chemicals Has associated genes Has associated phenotype references
  Rh Deficiency Syndrome
View node Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
  Werner Syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Yellow Nail Syndrome