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

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 17 publications over 13 distinct years, with a maximum of 2 publications in 2011 and 2014 and 2016 and 2018

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

Year	Major Topic	Minor Topic	Total
1992	0	1	1
2003	1	0	1
2004	1	0	1
2006	1	0	1
2008	0	1	1
2011	0	2	2
2012	1	0	1
2014	1	1	2
2016	0	2	2
2017	0	1	1
2018	1	1	2
2020	1	0	1
2021	1	0	1

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

Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. 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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Kasht R, Borogovac A, George JN. 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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Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L. 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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Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science. 2018 03 16; 359(6381):1233-1239.

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Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, Whisenhunt KN, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Tanna CE, Hewitt AW, Mackey DA, Bradfield YS, Souzeau E, Javadiyan S, Wiggs JL, Pasutto F, Liu X, John SW, Craig JE, Jin J, Young TL, Quaggin SE. 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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Mesquita A, Cardenal-Muñoz E, Dominguez E, Muñoz-Braceras S, Nuñez-Corcuera B, Phillips BA, Tábara LC, Xiong Q, Coria R, Eichinger L, Golstein P, King JS, Soldati T, Vincent O, Escalante R. Autophagy in Dictyostelium: Mechanisms, regulation and disease in a simple biomedical model. Autophagy. 2017 Jan 02; 13(1):24-40.

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Makarova-Rusher OV, Altekruse SF, McNeel TS, Ulahannan S, Duffy AG, Graubard BI, Greten TF, McGlynn KA. 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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Takahashi Y, Moiseyev G, Ma JX. Identification of key residues determining isomerohydrolase activity of human RPE65. J Biol Chem. 2014 Sep 26; 289(39):26743-26751.

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Chernausek SD. Whole exome sequencing in short stature: finding needles in the haystack. Horm Res Paediatr. 2014; 82(1):1-2.

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Hannan KM, Sanij E, Rothblum LI, Hannan RD, Pearson RB. Dysregulation of RNA polymerase I transcription during disease. Biochim Biophys Acta. 2013 Mar-Apr; 1829(3-4):342-60.

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