 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 | 4 | 6 | | 2011 | 1 | 1 | 2 | | 2012 | 1 | 2 | 3 | | 2013 | 1 | 1 | 2 | | 2014 | 3 | 0 | 3 | | 2015 | 2 | 3 | 5 | | 2016 | 1 | 1 | 2 | | 2017 | 5 | 1 | 6 | | 2018 | 4 | 3 | 7 | | 2019 | 6 | 3 | 9 | | 2020 | 2 | 0 | 2 | | 2022 | 2 | 5 | 7 | | 2023 | 3 | 4 | 7 | | 2024 | 1 | 7 | 8 | | 2025 | 3 | 1 | 4 |
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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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.
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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.
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Lewis CJ, Johnston JM, Zaragoza Domingo S, Vezina G, D'Souza P, Gahl WA, Adams DA, Tifft CJ, Acosta MT. Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts. Orphanet J Rare Dis. 2025 Mar 14; 20(1):125.
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Michaeli O, Kim SY, Mitchell SG, Jongmans MCJ, Wasserman JD, Perrino MR, Das A, MacFarland SP, Scollon SR, Greer MC, Sobreira N, Gallinger B, Lupo PJ, Malkin D, Schneider KW, Schultz KAP, Foulkes WD, Woodward ER, Stewart DR. Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes. Clin Cancer Res. 2025 Feb 03; 31(3):457-465.
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Bradshaw MS, Gibbs C, Martin S, Firman T, Gaskell A, Fosdick B, Layer R. Hypothesis generation for rare and undiagnosed diseases through clustering and classifying time-versioned biological ontologies. PLoS One. 2024; 19(12):e0309205.
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Saldaris JM, Ayalde J, Kankanange S, Keeley J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest ST, Downs J. Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review. Int J Lang Commun Disord. 2024 Nov-Dec; 59(6):2528-2553.
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Khoury P, Roufosse F, Kuang FL, Ackerman SJ, Akuthota P, Bochner BS, Johansson MW, Mathur SK, Ogbogu PU, Spencer LA, Wechsler ME, Zimmermann N, Klion AD. Biologic therapy in rare eosinophil-associated disorders: remaining questions and translational research opportunities. J Leukoc Biol. 2024 Jul 25; 116(2):307-320.
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Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, D?lot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leit?o E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840.
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Muir AB, Bailey DD, Mehta P. Embracing Diversity, Equity, Inclusion, and Accessibility in Eosinophilic Gastrointestinal Diseases. Immunol Allergy Clin North Am. 2024 05; 44(2):293-298.
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Llu?s N, Onoe S, Serradilla-Mart?n M, Achalandabaso M, Mizuno T, Jehaes F, Dasari BVM, Mambrilla-Herrero S, Sparrelid E, Balakrishnan A, Hoogwater FJH, Amaral MJ, Andersson B, Berrevoet F, Doussot A, L?pez-L?pez V, Detry O, Pozo CD, Machairas N, Pekli D, Alc?zar-L?pez CF, Asbun H, Bj?rnsson B, Christophides T, D?ez-Caballero A, Francart D, Noel CB, Sousa-Silva D, Toledo-Mart?nez E, Tzimas GN, Yaqub S, Yamaguchi J, Dokmak S, Prieto-Calvo M, D'Souza MA, Spiers HVM, van den Heuvel MC, Charco R, Lesurtel M, Ebata T, Ramia JM. Intraductal papillary neoplasms of the bile ducts: a comparative study of a rare disease in Europe and Nagoya, Japan. HPB (Oxford). 2024 04; 26(4):565-575.
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