"Rare Diseases" 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.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
Descriptor ID |
D035583
|
MeSH Number(s) |
C23.550.291.906
|
Concept/Terms |
Rare Diseases- Rare Diseases
- Disease, Rare
- Diseases, Rare
- Rare Disease
Orphan Diseases- Orphan Diseases
- Disease, Orphan
- Diseases, Orphan
- Orphan Disease
|
Below are MeSH descriptors whose meaning is more general than "Rare Diseases".
Below are MeSH descriptors whose meaning is more specific than "Rare Diseases".
This graph shows the total number of publications written about "Rare Diseases" by people in this website by year, and whether "Rare Diseases" 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 |
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2004 | 1 | 1 | 2 |
2005 | 0 | 3 | 3 |
2006 | 1 | 2 | 3 |
2007 | 0 | 3 | 3 |
2008 | 0 | 4 | 4 |
2010 | 0 | 3 | 3 |
2011 | 1 | 12 | 13 |
2012 | 3 | 2 | 5 |
2013 | 1 | 6 | 7 |
2014 | 5 | 7 | 12 |
2015 | 8 | 6 | 14 |
2016 | 4 | 5 | 9 |
2017 | 11 | 5 | 16 |
2018 | 6 | 4 | 10 |
2019 | 12 | 4 | 16 |
2020 | 9 | 7 | 16 |
2021 | 5 | 4 | 9 |
2022 | 3 | 11 | 14 |
2023 | 4 | 7 | 11 |
2024 | 0 | 2 | 2 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
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mRNA biotherapeutics landscape for rare genetic disorders. J Biosci. 2024; 49.
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Taxane-Based Chemotherapy Is Effective in Metastatic Appendiceal Adenocarcinoma. Oncologist. 2023 Dec 11; 28(12):e1303-e1305.
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Lifetime Aortic Management in?Marfan?Syndrome: Puzzle Pieces and Rare Diseases. J Am Coll Cardiol. 2023 09 12; 82(11):1077-1079.
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Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases. Genetics. 2023 08 09; 224(4).
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Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases. G3 (Bethesda). 2023 08 09; 13(8).
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Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248.
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Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60.
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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 09; 104(3):344-349.
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Rare disease research powered by empowered patients: solving the zebra puzzle through social media. Cancer. 2023 07 15; 129(14):2128-2131.