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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… 
National Institutes of Health

Related topics

Related topics

22 relations
Bile Acid Malabsorption, PrimaryChildhood Breast CarcinomaChildhood Colorectal CarcinomaChildhood Gastric Carcinoma

Narrower (3)

Oculootoradial syndromeOrphan DiseasesREVESZ SYNDROME (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Estimates of incidence and mortality of cervical cancer in 2018: a worldwide analysis
Highly Cited
2015
Highly Cited
2015
The UK10K project identifies rare variants in health and disease
  • Klaudia Josine L. Jie Lucy Yasin Shane John R. B. ChangJia Walter Min Huang Crooks Memari McCarthy Perry Xu F, Klaudia Walter, Weihua Zhang
  • Nature
  • 2015
  • Corpus ID: 215778479
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from… 
Highly Cited
2013
Highly Cited
2013
Introduction
nature medicine volume 19 | number 5 | may 2013 515 Life is short—especially for children with Hutchinson-Gilford progeria… 
Highly Cited
2013
Highly Cited
2013
Guidelines for the management of hemophilia
Hemophilia is a rare disorder that is complex to diagnose and to manage. These evidence‐based guidelines offer practical… 
Highly Cited
2010
Highly Cited
2010
Genetic Heterogeneity in Human Disease
Review
2009
Review
2009
Epidemiology of Pervasive Developmental Disorders
This article reviews the results of 43 studies published since 1966 that provided estimates for the prevalence of pervasive… 
Highly Cited
2007
Highly Cited
2007
STAT3 mutations in the hyper-IgE syndrome.
BACKGROUND The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and connective tissue characterized by… 
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… 
Highly Cited
2000
Highly Cited
2000
Paraneoplastic limbic encephalitis: neurological symptoms, immunological findings and tumour association in 50 patients.
Paraneoplastic limbic encephalitis (PLE) is a rare disorder characterized by personality changes, irritability, depression… 
Highly Cited
1990
Highly Cited
1990
Isolated noncompaction of left ventricular myocardium. A study of eight cases.
Isolated noncompaction of left ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by… 
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