 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 UAMS Profiles 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 |
|---|
| 2023 | 1 | 1 | 2 | | 2022 | 0 | 2 | 2 | | 2020 | 1 | 0 | 1 | | 2019 | 0 | 1 | 1 | | 2018 | 1 | 3 | 4 | | 2017 | 0 | 4 | 4 | | 2016 | 1 | 1 | 2 | | 2015 | 1 | 1 | 2 | | 2013 | 1 | 1 | 2 | | 2010 | 0 | 1 | 1 | | 2006 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Rare Diseases" by people in Profiles over the past ten years.
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Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2023 06 23; 21(1):410.
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Ly S, Guram M, Zoumberos N, Kincannon J, Evans MS. Annular erythema of infancy: A rare and challenging diagnosis. Pediatr Dermatol. 2023 Jul-Aug; 40(4):681-687.
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Ishihara R, Pakravan M, Charoenkijkajorn C, Lee AG. Sphenoid Sinusitis-Associated Optic Neuropathy: A Forgotten Disease. J Neuroophthalmol. 2024 Mar 01; 44(1):e113-e114.
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Sweeney NW, Ahlstrom JM, Davies FE, Thompson MA. HealthTree Cure Hub: A Patient-Derived, Patient-Driven Clinical Cancer Information Platform Used to Overcome Hurdles and Accelerate Research in Multiple Myeloma. JCO Clin Cancer Inform. 2022 02; 6:e2100141.
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Pierson SK, Khor JS, Ziglar J, Liu A, Floess K, NaPier E, Gorzewski AM, Tamakloe MA, Powers V, Akhter F, Haljasmaa E, Jayanthan R, Rubenstein A, Repasky M, Elenitoba-Johnson K, Ruth J, Jacobs B, Streetly M, Angenendt L, Patier JL, Ferrero S, Zinzani PL, Terriou L, Casper C, Jaffe E, Hoffmann C, Oksenhendler E, Foss? A, Srkalovic G, Chadburn A, Uldrick TS, Lim M, van Rhee F, Fajgenbaum DC. ACCELERATE: A Patient-Powered Natural History Study Design Enabling Clinical and Therapeutic Discoveries in a Rare Disorder. Cell Rep Med. 2020 12 22; 1(9):100158.
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Light JG, Rush JL, Evans MS. Widespread skin erosions in a newborn. Pediatr Dermatol. 2019 Nov; 36(6):939-941.
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O'Brien CA, Morello R. Modeling Rare Bone Diseases in Animals. Curr Osteoporos Rep. 2018 08; 16(4):458-465.
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Stiles ZE, Dickson PV, Glazer ES, Murphy AJ, Davidoff AM, Behrman SW, Bishop MW, Martin MG, Deneve JL. Desmoplastic small round cell tumor: A nationwide study of a rare sarcoma. J Surg Oncol. 2018 Jun; 117(8):1759-1767.
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Haller J, David MP, Lee NE, Shalin SC, Gardner JM. Impact of Pathologist Involvement in Sarcoma and Rare Tumor Patient Support Groups on Facebook: A Survey of 542 Patients and Family Members. Arch Pathol Lab Med. 2018 09; 142(9):1113-1119.
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Khatri A, Agrawal A, Sikachi RR, Mehta D, Sahni S, Meena N. Inflammatory myofibroblastic tumor of the lung. Adv Respir Med. 2018; 86(1):27-35.
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Cao XX, Tian Z, Lin L, Sun J, Su W, Zhou DB, Li J. Successful Treatment of Type 1 Cryoglobulinemic Vasculitis With Cardiac Involvement. Can J Cardiol. 2018 03; 34(3):343.e1-343.e3.
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Russ A, Rjoop A, Levy RA, Arthur C, Post GR. A Female Infant With Vomiting and Failure to Thrive. Clin Pediatr (Phila). 2018 07; 57(8):1004-1007.
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Joshi KP, Kaphle U, Steliga MA, Bartter T, Priyambada P, Jiwani S. Inflammatory Myofibroblastic Tumor of the Lung. A Rare Primary Lung Cancer. Am J Respir Crit Care Med. 2017 Oct 01; 196(7):923-924.
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Khanal S, Sharma R, Budakoty S. Rare case of massive pericardial effusion secondary to primary hypoparathyroidism. Indian Heart J. 2017 Sep - Oct; 69(5):660-661.
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Johnson MP, Johnson JC, Engel-Nitz NM, Said Q, Prestifilippo J, Gipson TT, Wheless J. Management of a Rare Disease Population: A Model for Identifying a Patient Population With Tuberous Sclerosis Complex. Manag Care. 2017 Aug; 26(8):34-41.
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Busch M, Priyambada P, Wells T, Jarrett D, Kraleti S. Persistent fever investigation saves patient's life. J Fam Pract. 2016 Nov; 65(11):812-813.
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Saadi R, Oberman BS, Crist H, Lighthall J. Subcutaneous nasal angioleiomyoma: Case of a rare tumor and review of the literature. Ear Nose Throat J. 2016 Oct-Nov; 95(10-11):E23-E25.
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Bonasso P, Turner J, Khan F, Nakayama D, Richmond B. Moans, Bones, Groans, and a Thyroid Mass. Am Surg. 2015 Aug; 81(8):319-21.
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Agarwal A, Klair J, Joiner A, Meena NK. Nodular trachea: tracheobronchopathia osteochondroplastica. BMJ Case Rep. 2015 Jun 25; 2015.
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Rao A, Sasapu A, Jiwani S, Laryea J, Makhoul I. Diffuse large B-cell lymphoma of the colon--a rare presentation. J Ark Med Soc. 2015 Mar; 111(10):208-10.
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