"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.
- Rare Diseases
- Disease, Rare
- Diseases, Rare
- Rare Disease
- 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|
To return to the timeline, click here.
Below are the most recent publications written about "Rare Diseases" by people in Profiles.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med. 2021 02; 23(2):259-271.
A Phase II Basket Trial of Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors (DART SWOG 1609) in Patients with Nonpancreatic Neuroendocrine Tumors. Clin Cancer Res. 2020 05 15; 26(10):2290-2296.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652.
Salivary Carcinosarcoma: An Extremely Rare and Highly Aggressive Malignancy. Laryngoscope. 2020 05; 130(5):E335-E339.
Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network. Am J Med Genet A. 2019 06; 179(6):958-965.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
A Rare Case of Hyperplastic Proximal Esophageal Polyps With Foveolar Dysplasia. Clin Gastroenterol Hepatol. 2019 06; 17(7):e75-e76.
Gastric heterotopia in the rectum. A rare cause of ectopic gastric tissue. Arab J Gastroenterol. 2017 Mar; 18(1):42-43.
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. Am J Hum Genet. 2017 02 02; 100(2):185-192.
Fatal Superior Sagittal Sinus and Torcular Thrombosis After Vestibular Schwannoma Surgery: Report of a Rare Complication and Review of the Literature. World Neurosurg. 2016 Dec; 96:607.e19-607.e24.