 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 |
|---|
| 2003 | 1 | 2 | 3 | | 2004 | 1 | 0 | 1 | | 2005 | 1 | 0 | 1 | | 2006 | 1 | 1 | 2 | | 2007 | 0 | 3 | 3 | | 2008 | 1 | 0 | 1 | | 2009 | 0 | 3 | 3 | | 2012 | 1 | 2 | 3 | | 2014 | 0 | 1 | 1 | | 2015 | 1 | 3 | 4 | | 2016 | 3 | 1 | 4 | | 2017 | 2 | 1 | 3 | | 2018 | 1 | 1 | 2 | | 2019 | 1 | 4 | 5 | | 2020 | 0 | 5 | 5 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Sarswat N. An Orphan Disease No More: Additional Treatment Options for Cardiac Amyloidosis. J Card Fail. 2020 09; 26(9):760-761.
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Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. A brief history of human disease genetics. Nature. 2020 01; 577(7789):179-189.
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Chow M, Kamath S, Choi D, Kim G, Ahronowitz I. Violaceous Plaques and Nodules: Challenge. Am J Dermatopathol. 2020 Jan; 42(1):e3.
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McGregor SM, Furtado LV, Montag AG, Brooks R, Lastra RR. Epithelioid Trophoblastic Tumor: Expanding the Clinicopathologic Spectrum of a Rare Malignancy. Int J Gynecol Pathol. 2020 Jan; 39(1):8-18.
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Chow M, Kamath S, Choi D, Kim G, Ahronowitz I. Violaceous Plaques and Nodules: Answer. Am J Dermatopathol. 2020 Jan; 42(1):63-64.
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Kanabolo D, Rodriguez J, Waggoner D, Tucker S, Deplewski D, Kaumeyer B, Lastra RR, Gundeti M. A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features. Pediatr Ann. 2019 Dec 01; 48(12):e495-e500.
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Mohammadi P, Castel SE, Cummings BB, Einson J, Sousa C, Hoffman P, Donkervoort S, Jiang Z, Mohassel P, Foley AR, Wheeler HE, Im HK, Bonnemann CG, MacArthur DG, Lappalainen T. Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science. 2019 10 18; 366(6463):351-356.
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Sandhu JK, Albrecht J, Agnihotri G, Tsoukas MM. Erythema elevatum et diutinum as a systemic disease. Clin Dermatol. 2019 Nov - Dec; 37(6):679-683.
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Sanchez IM, DiTommaso LE, Tsoukas MM. Oral Kaposi Sarcoma. JAMA Dermatol. 2019 03 01; 155(3):370.
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Bezalel SA, Onajin O, Gonzalez-Santiago TM, Patel R, Pritt BS, Virk A, Gibson LE, Peters MS. Leprosy in a Midwestern Dermatology Clinic: Report of 9 Patients. Mayo Clin Proc. 2019 03; 94(3):417-423.
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