"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 |
|---|
| 2011 | 0 | 1 | 1 |
| 2016 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2021 | 1 | 2 | 3 |
| 2022 | 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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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet. 2022 03; 54(3):349-357.
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Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data. Mol Genet Genomic Med. 2021 12; 9(12):e1807.
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Molecular pathology of rare progeroid diseases. Trends Mol Med. 2021 09; 27(9):907-922.
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021 09; 29(9):1325-1331.
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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN). Orphanet J Rare Dis. 2020 06 08; 15(1):144.
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eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. Hum Mutat. 2019 07; 40(7):865-878.
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Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One. 2016; 11(1):e0146040.
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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis. 2011 Jun 08; 6:36.
MeSH information
