 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 |
|---|
| 2002 | 1 | 0 | 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 | 3 | 2 | 5 | | 2016 | 1 | 1 | 2 | | 2017 | 4 | 1 | 5 | | 2018 | 4 | 3 | 7 | | 2019 | 7 | 3 | 10 | | 2020 | 2 | 0 | 2 | | 2022 | 2 | 5 | 7 | | 2023 | 3 | 4 | 7 | | 2024 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bak?tein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Cady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanu?ov? K, He YO, Hegde H, Helbig I, Holasov? K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulov? M, Millett CE, Mitchell PB, Moslerov? V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Cajbikov? NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlckov? M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Y?ksel Z, Zandi PP, Zankl A, Zarante I, Zvolsk? M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, K?hler S, Haendel MA, Robinson PN. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024 Jan 05; 52(D1):D1333-D1346.
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Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Adam MP, Blau H, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochm?ller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, Robinson PN. The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease. Med. 2023 Dec 08; 4(12):913-927.e3.
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Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry ?, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study. Genet Med. 2024 02; 26(2):101012.
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McBride HJ, Frazer-Abel A, Thiemann S, Lehto SG, Hutterer KM, Liu J. Functional similarity of ABP 959 and eculizumab in simulated serum models of aHUS and NMOSD. Ann Hematol. 2023 Dec; 102(12):3299-3309.
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Costa E, Girotti S, van den Ham HA, Cipolli M, van der Ent CK, Taylor-Cousar JL, Leufkens HGM. Traits, trends and hits of orphan drug designations in cystic fibrosis. J Cyst Fibros. 2023 09; 22(5):949-957.
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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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