"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 |
|---|
| 2012 | 0 | 1 | 1 |
| 2019 | 0 | 1 | 1 |
| 2020 | 0 | 1 | 1 |
| 2022 | 1 | 1 | 2 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group. Orphanet J Rare Dis. 2022 06 16; 17(1):230.
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Not so rare: It's time to raise awareness of rare diseases in South Africa. S Afr Med J. 2022 02 02; 112(1):13522.
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Pathway Maps of Orphan and Complex Diseases Using an Integrative Computational Approach. Biomed Res Int. 2020; 2020:4280467.
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Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement. Lancet Diabetes Endocrinol. 2020 01; 8(1):50-67.
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Sirenomelia: four further cases with discussion of associated upper limb defects. Clin Dysmorphol. 2012 Jul; 21(3):124-130.