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Term:Genetic Diseases, Inborn
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Accession:RDO:0004759 term browser browse the term
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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.
Synonyms:exact_synonym: Hereditary Disease;   Hereditary Diseases;   Inborn Genetic Disease;   Single Gene Defects;   Single-Gene Defect
 primary_id: MESH:D030342
 alt_id: OMIM:314850
Parent Terms Term With Siblings Child Terms
Congenital Abnormalities + 
Fetal Diseases + 
Genetic Diseases, Inborn + 
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.
Hemorrhagic shock and encephalopathy syndrome
Infant, Newborn, Diseases + 
ACTH Deficiency, Isolated 
Adrenal Hyperplasia, Congenital + 
Adrenocortical Hypofunction, Chronic Primary Congenital
Alagille Syndrome 
alpha 1-Antitrypsin Deficiency + 
Alpha-2-Deficient Collagen Disease
Anemia, Hemolytic, Congenital + 
Anemia, Hypoplastic, Congenital + 
Angioedemas, Hereditary + 
Ataxia Telangiectasia + 
Atrial Standstill
Autoimmune Lymphoproliferative Syndrome + 
Blood Coagulation Disorders, Inherited + 
Brugada Syndrome + 
CADASIL + 
Camurati-Engelmann Syndrome + 
Cardiomyopathy, Hypertrophic, Familial + 
Cerebral Palsy, Ataxic, Autosomal Recessive 
CHARGE Syndrome 
Cherubism + 
Chromosome Disorders + 
Cirrhosis, Familial 
Complement Factor I Deficiency 
Corticosteroid-Binding Globulin Deficiency 
Costello Syndrome 
Cryoglobulinemia, Familial Mixed
Cystic Fibrosis + 
Donohue Syndrome + 
Dwarfism + 
Epistaxis, Hereditary
Eye Diseases, Hereditary + 
Frasier Syndrome 
Genetic Diseases, X-Linked + 
Genetic Diseases, Y-Linked + 
Hajdu-Cheney Syndrome +
Hemoglobinopathies + 
Hepatic Fibrosis, Congenital
Hereditary Autoinflammatory Diseases + 
Hereditary Myopathy with Early Respiratory Failure 
Heredodegenerative Disorders, Nervous System + 
Histiocytosis, Familial Lipochrome
Hyperthyroxinemia, Familial Dysalbuminemic +
Interstitial Pneumonitis, Desquamative, Familial
Kallmann Syndrome + 
Kartagener Syndrome + 
Loeys-Dietz Syndrome + 
Marfan Syndrome + 
Metabolism, Inborn Errors + 
Muscular Dystrophies + 
Myasthenic Syndromes, Congenital + 
Nail-Patella Syndrome + 
Neoplastic Syndromes, Hereditary + 
Neutropenia, Nonimmune Chronic Idiopathic, Adult
Osteogenesis Imperfecta + 
Pain Insensitivity, Congenital + 
Parotidomegaly, Hereditary Bilateral
Pelger-Huet Anomaly + 
Platelet Glycoprotein IV Deficiency 
Polycystic Kidney, Autosomal Recessive + 
Prolactin Deficiency, Isolated
Pulmonary Alveolar Microlithiasis 
Pycnodysostosis 
Rh Deficiency Syndrome
Skin Diseases, Genetic + 
Weill-Marchesani Syndrome + 
Werner Syndrome + 
Yellow Nail Syndrome +
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