"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 |
|---|
| 1993 | 0 | 1 | 1 |
| 1994 | 0 | 2 | 2 |
| 1995 | 1 | 0 | 1 |
| 1996 | 0 | 2 | 2 |
| 1997 | 1 | 0 | 1 |
| 1998 | 3 | 4 | 7 |
| 1999 | 1 | 0 | 1 |
| 2000 | 0 | 2 | 2 |
| 2001 | 2 | 1 | 3 |
| 2002 | 0 | 2 | 2 |
| 2004 | 0 | 1 | 1 |
| 2005 | 3 | 0 | 3 |
| 2006 | 1 | 0 | 1 |
| 2007 | 3 | 0 | 3 |
| 2008 | 6 | 1 | 7 |
| 2009 | 2 | 1 | 3 |
| 2010 | 0 | 1 | 1 |
| 2011 | 2 | 1 | 3 |
| 2012 | 1 | 2 | 3 |
| 2013 | 0 | 1 | 1 |
| 2014 | 4 | 2 | 6 |
| 2015 | 4 | 0 | 4 |
| 2016 | 2 | 1 | 3 |
| 2017 | 1 | 2 | 3 |
| 2018 | 2 | 0 | 2 |
| 2019 | 2 | 0 | 2 |
| 2020 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
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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Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 06; 27(6):1097-1104.
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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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Genetic Influences on Disease Subtypes. Annu Rev Genomics Hum Genet. 2020 08 31; 21:413-435.
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Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma. J Clin Invest. 2019 08 01; 129(11):4676-4681.
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50 Years Ago in The Journal of Pediatrics: Prenatal Detection of Genetic Defects. J Pediatr. 2019 01; 204:45.
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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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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. Genet Med. 2018 03; 20(3):351-359.
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Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program. 2017 12 08; 2017(1):79-87.
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Familial myelodysplastic syndrome/acute myeloid leukemia. Best Pract Res Clin Haematol. 2017 12; 30(4):287-289.
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The population genetics of human disease: The case of recessive, lethal mutations. PLoS Genet. 2017 Sep; 13(9):e1006915.