 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 |
|---|
| 2006 | 0 | 1 | 1 | | 2008 | 2 | 2 | 4 | | 2009 | 0 | 2 | 2 | | 2010 | 1 | 1 | 2 | | 2011 | 1 | 1 | 2 | | 2012 | 0 | 1 | 1 | | 2014 | 3 | 1 | 4 | | 2015 | 3 | 1 | 4 | | 2016 | 1 | 1 | 2 | | 2017 | 1 | 1 | 2 | | 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab. 2018 03; 123(3):337-346.
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Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017 10; 92(4):796-808.
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Fallon SC, Langer JC, St Peter SD, Tsao K, Kellagher CM, Lal DR, Whitehouse JS, Diesen DL, Rollins MD, Pontarelli E, Malek MM, Iqbal CW, Upperman JS, Leys CM, Wulkan ML, Hill SJ, Blakely ML, Kane TD, Wesson DE. Congenital H-type tracheoesophageal fistula: A multicenter review of outcomes in a rare disease. J Pediatr Surg. 2017 Nov; 52(11):1711-1714.
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Shi D, Zhao G, Ah Mew N, Tuchman M. Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes. Mol Genet Metab. 2017 03; 120(3):198-206.
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O'Suoji C, Welch JJ, Perkins SL, Smith LM, Weitzman S, Simko SJ, Galardy PJ, Bollard CM, Gross TG, Termuhlen AM. Rare Pediatric Non-Hodgkin Lymphomas: A Report From Children's Oncology Group Study ANHL 04B1. Pediatr Blood Cancer. 2016 May; 63(5):794-800.
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Samango-Sprouse C, Keen C, Mitchell F, Sadeghin T, Gropman A. Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX. Am J Med Genet A. 2015 Oct; 167A(10):2251-9.
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Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R, Flanigan KM, Kaufmann P, McNeil E, Mendell J, Hesterlee S, Wells DJ, Bushby K. The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development. Orphanet J Rare Dis. 2015 Apr 23; 10:49.
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Tosi LL, Warman ML. Mechanistic and therapeutic insights gained from studying rare skeletal diseases. Bone. 2015 Jul; 76:67-75.
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Abdallah C. Anaesthesia and orphan disease: anaesthesia for Gomez-Lopez-Hernandez syndrome. Eur J Anaesthesiol. 2015 Mar; 32(3):218-20.
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Pugnale MJ, Maresh A, Sinha P, Rossi C, Murnick J, Reilly BK. Pediatric tracheal tumor masked by a history of travel: case report and literature review. Laryngoscope. 2015 Apr; 125(4):1004-7.
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