 Rare Diseases
"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
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| MeSH Number(s) |
C23.550.291.906
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| Concept/Terms |
Rare Diseases- Rare Diseases
- Disease, Rare
- Diseases, Rare
- Rare Disease
Orphan Diseases- Orphan Diseases
- Disease, Orphan
- Diseases, Orphan
- Orphan Disease
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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 |
|---|
| 2005 | 0 | 1 | 1 | | 2009 | 0 | 1 | 1 | | 2010 | 0 | 1 | 1 | | 2011 | 1 | 0 | 1 | | 2014 | 0 | 1 | 1 | | 2015 | 1 | 1 | 2 | | 2016 | 0 | 2 | 2 | | 2017 | 1 | 1 | 2 | | 2019 | 0 | 1 | 1 | | 2021 | 1 | 0 | 1 | | 2022 | 0 | 1 | 1 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, Bönnemann C, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M. Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 Jul 06; 30(7):2416-2428.
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Krishnan ML, Berry-Kravis E, Capal JK, Carpenter R, Gringras P, Hipp JF, Miller MT, Mingorance A, Philpot BD, Pletcher MT, Rotenberg A, Tjeertes J, Wang PP, Willgoss T, de Wit MC, Jeste SS. Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities. Nat Rev Drug Discov. 2021 09; 20(9):653-654.
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Richardson C, Haque UJ. Pulmonary Capillaritis in a Patient With Antisynthetase Syndrome and Anti-PL-7 Antibodies. J Clin Rheumatol. 2019 09; 25(6):e91-e92.
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Sheppard S, Shah R, Madrigrano A, Kopkash K. Malignant Phyllodes: A Presentation of Two Patients with a Rare Disease. Am Surg. 2017 Dec 01; 83(12):e478-479.
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Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD. Intrathecal 2-hydroxypropyl-ß-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017 Oct 14; 390(10104):1758-1768.
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Jones RL. Understanding sarcomas and other rare tumors: an interview with Robin L Jones. Future Oncol. 2017 Feb; 13(5):391-394.
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Bakhos CT, Wang SC, Tedesco KL, DeJesus AD, Nozad S, Depan HJ. Primary Neuroendocrine Carcinoma of the Middle Mediastinum Involving the Right Main Pulmonary Artery. Ann Thorac Surg. 2016 Apr; 101(4):1594-6.
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Lee ATJ, Huang PH, Pollack SM, Jones RL. Drug repositioning in sarcomas and other rare tumors. EBioMedicine. 2016 Apr; 6:4-5.
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Rosen LE, Singh RI, Vercillo M, Gattuso P. Myoepithelial carcinoma of the lung: a review. Appl Immunohistochem Mol Morphol. 2015 Jul; 23(6):397-401.
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Agnihotri SP, Koralnik IJ. Training for a neurology career in a rare disease: The role of cyberconsults. Ann Neurol. 2015 May; 77(5):738-40.
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