 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
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
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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
- 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 |
|---|
| 1994 | 1 | 0 | 1 | | 1995 | 0 | 1 | 1 | | 1996 | 0 | 1 | 1 | | 1997 | 1 | 0 | 1 | | 1998 | 0 | 1 | 1 | | 1999 | 0 | 1 | 1 | | 2000 | 0 | 1 | 1 | | 2001 | 0 | 1 | 1 | | 2003 | 2 | 0 | 2 | | 2004 | 2 | 0 | 2 | | 2006 | 1 | 0 | 1 | | 2007 | 1 | 1 | 2 | | 2008 | 1 | 0 | 1 | | 2009 | 1 | 1 | 2 | | 2010 | 0 | 1 | 1 | | 2013 | 1 | 0 | 1 | | 2014 | 3 | 0 | 3 | | 2015 | 5 | 0 | 5 | | 2016 | 2 | 0 | 2 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2022 | 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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Abbott JK, Gelfand EW. Registries are shaping how we think about primary immunodeficiency diseases. J Allergy Clin Immunol. 2022 06; 149(6):1943-1945.
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Porras AR, Rosenbaum K, Tor-Diez C, Summar M, Linguraru MG. Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study. Lancet Digit Health. 2021 10; 3(10):e635-e643.
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Danis D, Jacobsen JOB, Carmody LC, Gargano MA, McMurry JA, Hegde A, Haendel MA, Valentini G, Smedley D, Robinson PN. Interpretable prioritization of splice variants in diagnostic next-generation sequencing. Am J Hum Genet. 2021 09 02; 108(9):1564-1577.
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Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 12 15; 173(12):989-1001.
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Bannister JJ, Crites SR, Aponte JD, Katz DC, Wilms M, Klein OD, Bernier FPJ, Spritz RA, Hallgr?msson B, Forkert ND. Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images. Sensors (Basel). 2020 Jun 03; 20(11).
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Bhoj EJ, Rajabi F, Baker SW, Santani A, Tan WH. Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci. Eur J Med Genet. 2020 Jun; 63(6):103903.
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Oliver GR, Tang X, Schultz-Rogers LE, Vidal-Folch N, Jenkinson WG, Schwab TL, Gaonkar K, Cousin MA, Nair A, Basu S, Chanana P, Oglesbee D, Klee EW. A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. PLoS One. 2019; 14(10):e0223337.
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K?hler S, ?ien NC, Buske OJ, Groza T, Jacobsen JOB, McNamara C, Vasilevsky N, Carmody LC, Gourdine JP, Gargano M, McMurry JA, Danis D, Mungall CJ, Smedley D, Haendel M, Robinson PN. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. Curr Protoc Hum Genet. 2019 09; 103(1):e92.
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Zhou KY, Wang YX, Zhang S, Gachloo M, Kim JD, Luo Q, Cohen KB, Xia JB. GOF/LOF knowledge inference with tensor decomposition in support of high order link discovery for gene, mutation and disease. Math Biosci Eng. 2019 02 20; 16(3):1376-1391.
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Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. J Hum Genet. 2018 Nov; 63(11):1099-1107.
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