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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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".

Diseases [C]
Pathological Conditions, Signs and Symptoms [C23]
Pathologic Processes [C23.550]
Disease Attributes [C23.550.291]
Rare Diseases [C23.550.291.906]

Below are MeSH descriptors whose meaning is related to "Rare Diseases".

Below are MeSH descriptors whose meaning is more specific than "Rare Diseases".

publications

Timeline | Most Recent

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.

Bar chart showing 29 publications over 16 distinct years, with a maximum of 6 publications in 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2007	0	1	1
2008	0	1	1
2009	0	1	1
2010	1	0	1
2011	1	1	2
2012	0	2	2
2013	1	0	1
2015	0	3	3
2016	1	1	2
2017	4	2	6
2018	1	1	2
2019	0	1	1
2020	0	1	1
2021	1	2	3
2022	0	1	1
2025	1	0	1

Below are the most recent publications written about "Rare Diseases" by people in Profiles.

Belgrad J, McConnell E, Leonard S, Nolen N, Lauffer MC, Watts JK, Yu T, Yan WX, Aartsma-Rus A. The N=1 Collaborative: advancing customized nucleic acid therapies through collaboration and data sharing. Nucleic Acids Res. 2025 Apr 22; 53(8).

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Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, B?nnemann C, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M. Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 07 06; 30(7):2416-2428.

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Bettio C, Salsi V, Orsini M, Calanchi E, Magnotta L, Gagliardelli L, Kinoshita J, Bergamaschi S, Tupler R. The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease. Orphanet J Rare Dis. 2021 11 04; 16(1):470.

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Glenn DA, Hogan SL. Big Data and Glomerular Disease: Uncovering Common Outcomes of Rare Disease. J Am Soc Nephrol. 2021 09; 32(9):2106-2108.

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Pasquini TLS, Goff SL, Whitehill JM. Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents' experiences. Orphanet J Rare Dis. 2021 07 15; 16(1):313.

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Abbott MA, Diebold WJ, Rosengren SS. Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):219-223.

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Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Shieh PB, Tizzano E, Desguerre I, Quijano-Roy S, Saito K, Droege M, Dabbous O, Khan F, Renault L, Anderson FA, Servais L. RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design. J Neuromuscul Dis. 2020; 7(2):145-152.

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Seckeler MD, Moedano L, Mustacich D, Kalb BT, Saranathan M, Galons JP, Witte MH. Non-contrast MR lymphography of rare lymphatic abnormalities. Lymphology. 2020; 53(3):136-140.

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Dhawan A, Lawlor MW, Mazariegos GV, McKiernan P, Squires JE, Strauss KA, Gupta D, James E, Prasad S. Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives. J Gastroenterol Hepatol. 2020 Apr; 35(4):530-543.

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Johnson AC, Ethun CG, Liu Y, Lopez-Aguiar AG, Tran TB, Poultsides G, Grignol V, Howard JH, Bedi M, Gamblin TC, Tseng J, Roggin KK, Chouliaras K, Votanopoulos K, Cullinan D, Fields RC, Delman KA, Wood WC, Cardona K, Maithel SK. Studying a Rare Disease Using Multi-Institutional Research Collaborations vs Big Data: Where Lies the Truth? J Am Coll Surg. 2018 09; 227(3):357-366.e3.

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