"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
|
| MeSH Number(s) |
C16.320
|
| Concept/Terms |
Genetic Diseases, Inborn- Genetic Diseases, Inborn
- Disease, Inborn Genetic
- Diseases, Inborn Genetic
- Genetic Disease, Inborn
- Inborn Genetic Disease
- Inborn Genetic Diseases
Hereditary Diseases- Hereditary Diseases
- Hereditary Disease
- Disease, Hereditary
- Diseases, Hereditary
- Genetic Disorders
- Disorder, Genetic
- Disorders, Genetic
- Genetic Disorder
- Genetic Diseases
- Disease, Genetic
- Diseases, Genetic
- Genetic Disease
Single-Gene Defects- Single-Gene Defects
- Defect, Single-Gene
- Defects, Single-Gene
- Single Gene Defects
- Single-Gene Defect
|
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
- Ciliopathies
- Costello Syndrome
- Cystic Fibrosis
- Donohue Syndrome
- Dwarfism
- Eye Diseases, Hereditary
- Familial Multiple Lipomatosis
- 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
- Oculocerebrorenal Syndrome
- Orofaciodigital Syndromes
- Osteoarthropathy, Primary Hypertrophic
- Osteochondrodysplasias
- Osteogenesis Imperfecta
- Pain Insensitivity, Congenital
- Pelger-Huet Anomaly
- Polycystic Kidney Diseases
- Pycnodysostosis
- Skin Diseases, Genetic
- 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 |
|---|
| 2004 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2008 | 0 | 1 | 1 |
| 2011 | 0 | 1 | 1 |
| 2012 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 1 | 2 |
| 2020 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Genetic Diseases, Inborn" by people in Profiles.
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Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura. Blood. 2021 06 24; 137(25):3563-3575.
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A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15.
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Frequency and severity of pregnancy complications in women with hereditary thrombotic thrombocytopenic purpura. Am J Hematol. 2020 11; 95(11):E316-E318.
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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018 07 26; 3(14).
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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science. 2018 03 16; 359(6381):1233-1239.
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Angiopoietin-1 is required for Schlemm's canal development in mice and humans. J Clin Invest. 2017 12 01; 127(12):4421-4436.
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Population attributable fractions of risk factors for hepatocellular carcinoma in the United States. Cancer. 2016 06 01; 122(11):1757-65.
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Identification of key residues determining isomerohydrolase activity of human RPE65. J Biol Chem. 2014 Sep 26; 289(39):26743-26751.
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Whole exome sequencing in short stature: finding needles in the haystack. Horm Res Paediatr. 2014; 82(1):1-2.
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Dysregulation of RNA polymerase I transcription during disease. Biochim Biophys Acta. 2013 Mar-Apr; 1829(3-4):342-60.