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.

MeSH information

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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".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]

Below are MeSH descriptors whose meaning is related to "Genetic Diseases, Inborn".

Below are MeSH descriptors whose meaning is more specific than "Genetic Diseases, Inborn".

publications

Timeline | Most Recent

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.

Bar chart showing 11 publications over 8 distinct years, with a maximum of 3 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2004	1	0	1
2005	1	0	1
2007	0	1	1
2008	1	0	1
2010	1	0	1
2012	0	2	2
2020	2	1	3
2021	0	1	1

Below are the most recent publications written about "Genetic Diseases, Inborn" by people in Profiles.

Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Kr?ger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12:796065.

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Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, S?nchez-Ram?n S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendon?a LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147(2):520-531.

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Ono JG, Kim BI, Zhao Y, Christos PJ, Tesfaigzi Y, Worgall TS, Worgall S. Decreased sphingolipid synthesis in children with 17q21 asthma-risk genotypes. J Clin Invest. 2020 02 03; 130(2):921-926.

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Shah S, Verma T, Rashid M, Gadewal N, Gupta S. Histone H2A isoforms: Potential implications in epigenome plasticity and diseases in eukaryotes. J Biosci. 2020; 45.

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Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle-Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population-based estimates for major birth defects, 2010-2014. Birth Defects Res. 2019 11 01; 111(18):1420-1435.

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Mai CT, Kucik JE, Isenburg J, Feldkamp ML, Marengo LK, Bugenske EM, Thorpe PG, Jackson JM, Correa A, Rickard R, Alverson CJ, Kirby RS. Selected birth defects data from population-based birth defects surveillance programs in the United States, 2006 to 2010: featuring trisomy conditions. Birth Defects Res A Clin Mol Teratol. 2013 Nov; 97(11):709-25.

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Li H, Liu C. Biomarker identification using text mining. Comput Math Methods Med. 2012; 2012:135780.

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Hagan JB, Wasserman RL, Baggish JS, Spycher MO, Berger M, Shashi V, Lohrmann E, Sullivan KE. Safety of L-proline as a stabilizer for immunoglobulin products. Expert Rev Clin Immunol. 2012 Feb; 8(2):169-78.

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Chen ZS, Tiwari AK. Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases. FEBS J. 2011 Sep; 278(18):3226-45.

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Maunakea AK, Chepelev I, Zhao K. Epigenome mapping in normal and disease States. Circ Res. 2010 Aug 06; 107(3):327-39.

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