FAQ

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

Related topics

Related topics

16 relations
Bile Acid Malabsorption, PrimaryCromolynHereditary DiseasesIn Blood
(More)

Narrower (4)

Oculootoradial syndromeOrphan DiseasesREVESZ SYNDROME (disorder)WT limb blood syndrome

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Rare Diseases
radiotherapeutic
Hereditary Diseases
prevention & control
Microbiological
nursing therapy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Recent advances in the pathogenesis and treatment of paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare disease that has been investigated for over one century and has revealed… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Review
2015
Review
2015
Localized scleroderma: clinical spectrum and therapeutic update*
Scleroderma is a rare connective tissue disease that is manifested by cutaneous sclerosis and variable systemic involvement. Two… (More)
  • figure 2
  • figure 1
  • figure 3
  • figure 4
  • figure 6
Is this relevant?
Review
2015
Review
2015
Recent advances and future prospects in choroideremia
Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis… (More)
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
2015
Highly Cited
2015
Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
The current version of the Human Disease Ontology (DO) (http://www.disease-ontology.org) database expands the utility of the… (More)
  • figure 1
  • table 1
  • table 2
  • table 3
  • table 4
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Genetic Heterogeneity in Human Disease
Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Cisplatin plus gemcitabine versus gemcitabine for biliary tract cancer.
Evaluation of: Valle J, Wasan H, Palmer DH et al. Cisplatin plus gemcitabine versus gemcitabine for biliary tract cancer. N. Engl… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
Highly Cited
2009
Highly Cited
2009
A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
Highly Cited
2006
Highly Cited
2006
A Proposed Classification of the Immunological Diseases
August 2006 | Volume 3 | Issue 8 | e297 A century ago Paul Ehrlich proposed that immune reactivity against self, which he called… (More)
  • table 1
  • figure 1
  • figure 2
  • table 2
Is this relevant?
Highly Cited
2005
Highly Cited
2005
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.
The identification of common variants that contribute to the genesis of human inherited disorders remains a significant challenge… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Office of Rare Diseases neuropathologic criteria for corticobasal degeneration.
A working group supported by the Office of Rare Diseases of the National Institutes of Health formulated neuropathologic criteria… (More)
Is this relevant?