"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 |
|---|
| 2003 | 1 | 2 | 3 |
| 2005 | 1 | 2 | 3 |
| 2006 | 1 | 1 | 2 |
| 2007 | 0 | 2 | 2 |
| 2008 | 1 | 0 | 1 |
| 2009 | 0 | 2 | 2 |
| 2012 | 1 | 2 | 3 |
| 2014 | 0 | 1 | 1 |
| 2015 | 0 | 5 | 5 |
| 2016 | 3 | 1 | 4 |
| 2017 | 2 | 2 | 4 |
| 2018 | 2 | 2 | 4 |
| 2019 | 2 | 4 | 6 |
| 2020 | 0 | 5 | 5 |
| 2021 | 2 | 3 | 5 |
| 2023 | 1 | 1 | 2 |
| 2024 | 2 | 2 | 4 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Clinical Reasoning: A 65-Year-Old Woman With Isolated Macroglossia as the Initial Presentation of a Rare Disease. Neurology. 2024 Dec 24; 103(12):e210070.
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840.
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Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab Anim (NY). 2024 Jul; 53(7):161-165.
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[Rare tumors and tumor types of the urinary system in the 5th edition of the WHO classification 2022]. Pathologie (Heidelb). 2024 Nov; 45(6):381-388.
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Utilization of FDA approved treatments for neuromyelitis optica spectrum disorder in clinical practice: A survey study of academic neuroimmunologists. Mult Scler Relat Disord. 2023 Dec; 80:105076.
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Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation. Mol Syst Biol. 2023 08 08; 19(8):e11407.
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Kleine-Levin syndrome related to pregnancy: a case report. J Clin Sleep Med. 2021 11 01; 17(11):2325-2327.
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Discovery and implications of polygenicity of common diseases. Science. 2021 Sep 24; 373(6562):1468-1473.
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Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities. Nat Rev Drug Discov. 2021 09; 20(9):653-654.
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Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 06; 27(6):1097-1104.