"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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2020 | 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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Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet. 2020 10; 41(5):401-412.
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Identifying Patients with Rare Disease Using Electronic Health Record Data: The Kaiser Permanente Southern California Membranous Nephropathy Cohort. Perm J. 2020; 24.
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The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. Am J Hum Genet. 2019 06 06; 104(6):1088-1096.
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Returning negative results to individuals in a genomic screening program: lessons learned. Genet Med. 2019 02; 21(2):409-416.