Rare Diseases

Known as: Rare Disease, Rare Diseases [Disease/Finding], disease rare 
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis… (More)

Topic mentions per year

Topic mentions per year

1936-2017
05001000150019362016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare disease that has been investigated for over one century and has revealed… (More)
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Review
2015
Review
2015
Scleroderma is a rare connective tissue disease that is manifested by cutaneous sclerosis and variable systemic involvement. Two… (More)
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Review
2015
Review
2015
Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis… (More)
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Highly Cited
2015
Highly Cited
2015
The current version of the Human Disease Ontology (DO) (http://www.disease-ontology.org) database expands the utility of the… (More)
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Highly Cited
2010
Highly Cited
2010
Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease… (More)
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Highly Cited
2010
Highly Cited
2010
Evaluation of: Valle J, Wasan H, Palmer DH et al. Cisplatin plus gemcitabine versus gemcitabine for biliary tract cancer. N. Engl… (More)
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Highly Cited
2009
Highly Cited
2009
Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag… (More)
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Highly Cited
2006
Highly Cited
2006
August 2006 | Volume 3 | Issue 8 | e297 A century ago Paul Ehrlich proposed that immune reactivity against self, which he called… (More)
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Highly Cited
2005
Highly Cited
2005
The identification of common variants that contribute to the genesis of human inherited disorders remains a significant challenge… (More)
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Highly Cited
2002
Highly Cited
2002
A working group supported by the Office of Rare Diseases of the National Institutes of Health formulated neuropathologic criteria… (More)
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