 Genetic Diseases, Inborn
"Genetic Diseases, Inborn" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D030342
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| MeSH Number(s) |
C16.320
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| Concept/Terms |
Genetic Diseases, Inborn- Genetic Diseases, Inborn
- Disease, Inborn Genetic
- Diseases, Inborn Genetic
- Genetic Disease, Inborn
- Inborn Genetic Disease
- Inborn Genetic Diseases
Single-Gene Defects- Single-Gene Defects
- Defect, Single-Gene
- Defects, Single-Gene
- Single Gene Defects
- Single-Gene Defect
Hereditary Diseases- Hereditary Diseases
- Hereditary Disease
- Disease, Hereditary
- Diseases, Hereditary
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Below are MeSH descriptors whose meaning is more general than "Genetic Diseases, Inborn".
Below are MeSH descriptors whose meaning is more specific than "Genetic Diseases, Inborn".
- Genetic Diseases, Inborn
- Adrenal Hyperplasia, Congenital
- Alagille Syndrome
- alpha 1-Antitrypsin Deficiency
- Anemia, Hemolytic, Congenital
- Anemia, Hypoplastic, Congenital
- Angioedemas, Hereditary
- Ataxia Telangiectasia
- Autoimmune Lymphoproliferative Syndrome
- Blood Coagulation Disorders, Inherited
- Brugada Syndrome
- CADASIL
- Camurati-Engelmann Syndrome
- Cardiomyopathy, Hypertrophic, Familial
- CHARGE Syndrome
- Cherubism
- Chromosome Disorders
- Costello Syndrome
- Cystic Fibrosis
- Donohue Syndrome
- Dwarfism
- Eye Diseases, Hereditary
- Frasier Syndrome
- Genetic Diseases, X-Linked
- Genetic Diseases, Y-Linked
- Hajdu-Cheney Syndrome
- Hemoglobinopathies
- 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
- Osteoarthropathy, Primary Hypertrophic
- Osteogenesis Imperfecta
- Pain Insensitivity, Congenital
- Pelger-Huet Anomaly
- Polycystic Kidney, Autosomal Recessive
- Pycnodysostosis
- Skin Diseases, Genetic
- Weill-Marchesani Syndrome
- Werner Syndrome
- Yellow Nail Syndrome
This graph shows the total number of publications written about "Genetic Diseases, Inborn" by people in this website by year, and whether "Genetic Diseases, Inborn" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1981 | 0 | 1 | 1 | | 2003 | 1 | 0 | 1 | | 2007 | 1 | 0 | 1 | | 2009 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Genetic Diseases, Inborn" by people in Profiles.
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Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, Gelb BD, Goriely A, Gripp KW, Hardan AY, Keppler-Noreuil KM, Kerr B, Korf B, Leoni C, McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh K, Widemann BC. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. Am J Med Genet A. 2016 08; 170(8):1959-66.
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Rinke ML, Driscoll A, Mikat-Stevens N, Healy J, Colantuoni E, Elias AF, Pletcher BA, Gubernick RS, Larson I, Chung WK, Tarini BA. A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services. Pediatrics. 2016 Feb; 137(2):e20143874.
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Hartung EA, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 2014 Sep; 134(3):e833-45.
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Tarini BA, McInerney JD. Family history in primary care pediatrics. Pediatrics. 2013 Dec; 132(Suppl 3):S203-10.
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Wolters PL, Gropman AL, Martin SC, Smith MR, Hildenbrand HL, Brewer CC, Smith AC. Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome. Pediatr Neurol. 2009 Oct; 41(4):250-8.
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Tarini BA, Singer D, Clark SJ, Davis MM. Parents' concern about their own and their children's genetic disease risk: potential effects of family history vs genetic test results. Arch Pediatr Adolesc Med. 2008 Nov; 162(11):1079-83.
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Gropman AL, Adams DR. Atypical patterns of inheritance. Semin Pediatr Neurol. 2007 Mar; 14(1):34-45.
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Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics. 2006 Aug; 118(2):448-56.
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Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet. 2003 Apr; 112(4):364-8.
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Silber TJ. Amniocentesis and selective abortion. Pediatr Ann. 1981 Oct; 10(10):397-400.
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