 Rare Diseases
"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 |
|---|
| 2002 | 1 | 0 | 1 | | 2005 | 0 | 1 | 1 | | 2006 | 0 | 3 | 3 | | 2007 | 1 | 3 | 4 | | 2008 | 0 | 2 | 2 | | 2010 | 2 | 4 | 6 | | 2011 | 1 | 1 | 2 | | 2012 | 1 | 2 | 3 | | 2013 | 1 | 1 | 2 | | 2014 | 3 | 1 | 4 | | 2015 | 3 | 3 | 6 | | 2016 | 1 | 1 | 2 | | 2017 | 5 | 1 | 6 | | 2018 | 2 | 3 | 5 | | 2019 | 5 | 3 | 8 | | 2020 | 2 | 0 | 2 | | 2021 | 1 | 0 | 1 | | 2022 | 2 | 4 | 6 | | 2023 | 3 | 5 | 8 | | 2024 | 1 | 7 | 8 | | 2025 | 10 | 2 | 12 |
To return to the timeline, click here.
Below are the most recent publications written about "Rare Diseases" by people in Profiles.
-
Shefchek K, Ziniel SI, McMurry JA, Brownstein CA, Brownstein JS, Riggs ER, Might M, Smedley D, Clugston A, Beggs AH, Paterson H, Robinson PN, Vasilevsky NA, Holm IA, Haendel MA. Development of self-phenotyping tools to empower patients and improve diagnostics. EBioMedicine. 2025 Nov; 121:105965.
-
Hayeems RZ, Ungar WJ, Marshall CR, Gillespie MK, Szuto A, Huang L, Venkataramanan V, Xiao B, Chisholm C, Stavropoulos DJ, Bergeron MB, Lee W, Costain G, Jobling R, Sawyer S, Price EM, Lau L, Mendoza R, Somerville MJ, Boycott KM. Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial. Genet Med. 2026 Jan; 28(1):101605.
-
Lewiecki EM, Adler RA, Anderson PA, Bilezikian JP, Dempster DW, Fazeli PK, McClung MR, Rush ET, Swanson CM, Tanner SB. Proceedings of the 2025 Santa Fe Bone Symposium: Current concepts in the care of patients with osteoporosis, parathyroid disorders, and rare bone diseases. J Clin Densitom. 2025 Oct-Dec; 28(4):101628.
-
Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Ah Mew N, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM, Xiao C, Délot EC, Berger SI, Vilain E. Genome sequencing reveals the impact of pseudoexons in rare genetic disease. Genet Med. 2025 Nov; 27(11):101574.
-
Ediae GU, White-Brown A, Chisholm C, Terekhov I, Seymour J, Guo J, Mitsakakis N, Sawyer SL, Boycott KM. ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record. Genet Med. 2025 Nov; 27(11):101570.
-
Ungar WJ, Wu V, Marshall CR, Hwang J, Hayeems RZ, Tsiplova K, Gillespie MK, Szuto A, Chisholm C, Stavropoulos DJ, Venkataramanan V, Xiao B, Costain G, Bergeron MB, Sawyer S, Lau L, Huang L, Mendoza-Londono R, Somerville MJ, Boycott KM. A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis. Genet Med. 2026 Feb; 28(2):101561.
-
Stanley KJ, Chisholm C, Gillespie MK, Caluseriu O, Del Signore N, Elango S, Hartley T, Hewson S, Kim RH, McSheffrey G, Mendoza-Londono R, Sawyer SL, Somerville M, Venkataramanan V, White-Brown A, Telesca S, Shickh S, Marshall CR, Ungar WJ, Hayeems RZ, Bhawra J, Boycott KM, Costain G. TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist. BMJ Open. 2025 Aug 10; 15(8):e107603.
-
Fazal S, Dashnow H, Dohrn MF, Raposo J, Hiatt L, Danzi MC, Xu IRL, Toro C, Adams DR, Usdin K, Hayward B, Kobren SN, Sunyaev SR, Spillmann RC, Shashi V, Rebelo A, Bademci G, Tekin M, Quinlan AR, Zuchner S. A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort. Genet Med. 2025 Aug; 27(8):101462.
-
Golnari P, Prantzalos K, Hood V, Meskis MA, Isom LL, Wilcox K, Parent JM, Lal D, Lhatoo SD, Goodkin HP, Wirrell EC, Knupp KG, Patel M, Loeb JA, Sullivan JE, Harte-Hargrove L, Fureman BE, Buchhalter J, Sahoo SS. Ontology accelerates few-shot learning capability of large language model: A study in extraction of drug efficacy in a rare pediatric epilepsy. Int J Med Inform. 2025 Sep; 201:105942.
-
Cheerie D, Meserve MM, Beijer D, Kaiwar C, Newton L, Taylor Tavares AL, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NSY, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, Chopra M, Croft L, Dafsari HS, Davidson AE, Friedman J, Gregor A, Haque B, Lechner R, Montgomery KA, Ryten M, Schober E, Siegel G, Sullivan PJ, Whittle EF, Zardetto B, Yu TW, Synofzik M, Aartsma-Rus A, Costain G, Lauffer MC. Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Am J Hum Genet. 2025 May 01; 112(5):975-983.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|