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
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MeSH Number(s) |
C23.550.291.906
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Concept/Terms |
Rare Diseases- Rare Diseases
- Disease, Rare
- Diseases, Rare
- Rare Disease
Orphan Diseases- Orphan Diseases
- Disease, Orphan
- Diseases, Orphan
- Orphan Disease
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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 |
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2002 | 1 | 0 | 1 | 2004 | 0 | 1 | 1 | 2005 | 0 | 1 | 1 | 2006 | 0 | 2 | 2 | 2007 | 1 | 3 | 4 | 2008 | 0 | 2 | 2 | 2009 | 0 | 1 | 1 | 2010 | 2 | 3 | 5 | 2011 | 1 | 2 | 3 | 2012 | 1 | 3 | 4 | 2013 | 1 | 1 | 2 | 2014 | 3 | 0 | 3 | 2015 | 6 | 1 | 7 | 2016 | 0 | 3 | 3 | 2017 | 6 | 1 | 7 | 2018 | 5 | 4 | 9 | 2019 | 9 | 3 | 12 | 2020 | 4 | 1 | 5 | 2021 | 2 | 0 | 2 | 2022 | 2 | 5 | 7 | 2023 | 2 | 1 | 3 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Caufield JH, Putman T, Schaper K, Unni DR, Hegde H, Callahan TJ, Cappelletti L, Moxon SAT, Ravanmehr V, Carbon S, Chan LE, Cortes K, Shefchek KA, Elsarboukh G, Balhoff J, Fontana T, Matentzoglu N, Bruskiewich RM, Thessen AE, Harris NL, Munoz-Torres MC, Haendel MA, Robinson PN, Joachimiak MP, Mungall CJ, Reese JT. KG-Hub-building and exchanging biological knowledge graphs. Bioinformatics. 2023 07 01; 39(7).
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Banerjee J, Taroni JN, Allaway RJ, Prasad DV, Guinney J, Greene C. Machine learning in rare disease. Nat Methods. 2023 Jun; 20(6):803-814.
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Callahan TJ, Stefanksi AL, Ostendorf DM, Wyrwa JM, Davies SJD, Hripcsak G, Hunter LE, Kahn MG. Characterizing Patient Representations for Computational Phenotyping. AMIA Annu Symp Proc. 2022; 2022:319-328.
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Pati S, Baid U, Edwards B, Sheller M, Wang SH, Reina GA, Foley P, Gruzdev A, Karkada D, Davatzikos C, Sako C, Ghodasara S, Bilello M, Mohan S, Vollmuth P, Brugnara G, Preetha CJ, Sahm F, Maier-Hein K, Zenk M, Bendszus M, Wick W, Calabrese E, Rudie J, Villanueva-Meyer J, Cha S, Ingalhalikar M, Jadhav M, Pandey U, Saini J, Garrett J, Larson M, Jeraj R, Currie S, Frood R, Fatania K, Huang RY, Chang K, Bala?a C, Capellades J, Puig J, Trenkler J, Pichler J, Necker G, Haunschmidt A, Meckel S, Shukla G, Liem S, Alexander GS, Lombardo J, Palmer JD, Flanders AE, Dicker AP, Sair HI, Jones CK, Venkataraman A, Jiang M, So TY, Chen C, Heng PA, Dou Q, Kozubek M, Lux F, Mich?lek J, Matula P, Kerkovsk? M, Koprivov? T, Dost?l M, Vyb?hal V, Vogelbaum MA, Mitchell JR, Farinhas J, Maldjian JA, Yogananda CGB, Pinho MC, Reddy D, Holcomb J, Wagner BC, Ellingson BM, Cloughesy TF, Raymond C, Oughourlian T, Hagiwara A, Wang C, To MS, Bhardwaj S, Chong C, Agzarian M, Falc?o AX, Martins SB, Teixeira BCA, Sprenger F, Menotti D, Lucio DR, LaMontagne P, Marcus D, Wiestler B, Kofler F, Ezhov I, Metz M, Jain R, Lee M, Lui YW, McKinley R, Slotboom J, Radojewski P, Meier R, Wiest R, Murcia D, Fu E, Haas R, Thompson J, Ormond DR, Badve C, Sloan AE, Vadmal V, Waite K, Colen RR, Pei L, Ak M, Srinivasan A, Bapuraj JR, Rao A, Wang N, Yoshiaki O, Moritani T, Turk S, Lee J, Prabhudesai S, Mor?n F, Mandel J, Kamnitsas K, Glocker B, Dixon LVM, Williams M, Zampakis P, Panagiotopoulos V, Tsiganos P, Alexiou S, Haliassos I, Zacharaki EI, Moustakas K, Kalogeropoulou C, Kardamakis DM, Choi YS, Lee SK, Chang JH, Ahn SS, Luo B, Poisson L, Wen N, Tiwari P, Verma R, Bareja R, Yadav I, Chen J, Kumar N, Smits M, van der Voort SR, Alafandi A, Incekara F, Wijnenga MMJ, Kapsas G, Gahrmann R, Schouten JW, Dubbink HJ, Vincent AJPE, van den Bent MJ, French PJ, Klein S, Yuan Y, Sharma S, Tseng TC, Adabi S, Niclou SP, Keunen O, Hau AC, Valli?res M, Fortin D, Lepage M, Landman B, Ramadass K, Xu K, Chotai S, Chambless LB, Mistry A, Thompson RC, Gusev Y, Bhuvaneshwar K, Sayah A, Bencheqroun C, Belouali A, Madhavan S, Booth TC, Chelliah A, Modat M, Shuaib H, Dragos C, Abayazeed A, Kolodziej K, Hill M, Abbassy A, Gamal S, Mekhaimar M, Qayati M, Reyes M, Park JE, Yun J, Kim HS, Mahajan A, Muzi M, Benson S, Beets-Tan RGH, Teuwen J, Herrera-Trujillo A, Trujillo M, Escobar W, Abello A, Bernal J, G?mez J, Choi J, Baek S, Kim Y, Ismael H, Allen B, Buatti JM, Kotrotsou A, Li H, Weiss T, Weller M, Bink A, Pouymayou B, Shaykh HF, Saltz J, Prasanna P, Shrestha S, Mani KM, Payne D, Kurc T, Pelaez E, Franco-Maldonado H, Loayza F, Quevedo S, Guevara P, Torche E, Mendoza C, Vera F, R?os E, L?pez E, Velastin SA, Ogbole G, Soneye M, Oyekunle D, Odafe-Oyibotha O, Osobu B, Shu'aibu M, Dorcas A, Dako F, Simpson AL, Hamghalam M, Peoples JJ, Hu R, Tran A, Cutler D, Moraes FY, Boss MA, Gimpel J, Veettil DK, Schmidt K, Bialecki B, Marella S, Price C, Cimino L, Apgar C, Shah P, Menze B, Barnholtz-Sloan JS, Martin J, Bakas S. Federated learning enables big data for rare cancer boundary detection. Nat Commun. 2022 12 05; 13(1):7346.
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Ediae GU, Lemire G, Chisholm C, Hartley T, Eaton A, Osmond M, Rojas SK, Huang L, Gillespie M, Sawyer SL, Boycott KM. The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience. Am J Med Genet A. 2023 02; 191(2):338-347.
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Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Silva RG, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, Robinson PN. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. Am J Med Genet C Semin Med Genet. 2022 06; 190(2):231-242.
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Murphey K, George PE, Pencheva B, Porter CC, Wechsler SB, Gambello MJ, Li H. Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I. Am J Med Genet A. 2022 Sep; 188(9):2707-2711.
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Hayeems RZ, Marshall CR, Gillespie MK, Szuto A, Chisholm C, Stavropoulos DJ, Venkataramanan V, Tsiplova K, Sawyer S, Price EM, Lau L, Khan R, Lee W, Huang L, Jarinova O, Ungar WJ, Mendoza-Londono R, Somerville MJ, Boycott KM. Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario. CMAJ Open. 2022 Apr-Jun; 10(2):E460-E465.
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Shneider BL, Kamath BM, Magee JC, Goodrich NP, Loomes KM, Ye W, Spino C, Alonso EM, Molleston JP, Bezerra JA, Wang KS, Karpen SJ, Horslen SP, Guthery SL, Rosenthal P, Squires RH, Sokol RJ. Use of funded multicenter prospective longitudinal databases to inform clinical trials in rare diseases-Examination of cholestatic liver disease in Alagille syndrome. Hepatol Commun. 2022 08; 6(8):1910-1921.
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Berg AT, Kaat AJ, Zelko F, Wilkening G. Rare diseases - rare outcomes: Assessing communication abilities for the developmental and epileptic encephalopathies. Epilepsy Behav. 2022 03; 128:108586.
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