 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 | 4 | 5 | | 2016 | 3 | 1 | 4 | | 2017 | 2 | 1 | 3 | | 2018 | 1 | 1 | 2 | | 2019 | 2 | 4 | 6 | | 2020 | 0 | 5 | 5 | | 2021 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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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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Morley TJ, Han L, Castro VM, Morra J, Perlis RH, Cox NJ, Bastarache L, Ruderfer DM. Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 06; 27(6):1097-1104.
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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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Geddes GC, Samudrala SS, Earing MG. Neonatal Assessment of Infants with Heterotaxy. Clin Perinatol. 2020 03; 47(1):171-182.
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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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