"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 |
|---|
| 2004 | 1 | 1 | 2 |
| 2005 | 0 | 2 | 2 |
| 2006 | 1 | 0 | 1 |
| 2007 | 0 | 1 | 1 |
| 2008 | 0 | 1 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 0 | 7 | 7 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 1 | 2 |
| 2014 | 3 | 4 | 7 |
| 2015 | 5 | 3 | 8 |
| 2016 | 1 | 1 | 2 |
| 2017 | 7 | 3 | 10 |
| 2018 | 4 | 2 | 6 |
| 2019 | 8 | 0 | 8 |
| 2020 | 6 | 7 | 13 |
| 2021 | 4 | 4 | 8 |
| 2022 | 3 | 8 | 11 |
| 2023 | 4 | 5 | 9 |
| 2024 | 7 | 3 | 10 |
| 2025 | 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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Assessing the supportive care needs of parents of children with rare diseases in Ireland. J Pediatr Nurs. 2025 Mar-Apr; 81:31-42.
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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2025 Apr; 197(4):e63956.
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National virtual tumor boards to inform the management of children with rare cancers. Curr Opin Pediatr. 2025 Feb 01; 37(1):56-58.
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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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Current Status and Challenges in Rare Genitourinary Cancer Research and Future Directions. Curr Oncol Rep. 2024 Sep; 26(9):977-990.
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The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281.
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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. Hum Genomics. 2024 04 29; 18(1):44.
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Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach. Mol Genet Metab. 2024 May; 142(1):108453.
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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024 06; 26(6):101115.
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.