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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.
Review
2013
Review
2013
A clinical review of recent findings in the epidemiology of inflammatory bowel disease
Inflammatory bowel diseases (IBD), including both Crohn’s disease and ulcerative colitis, are disorders of chronic inflammation… 
Highly Cited
2010
Highly Cited
2010
Long-Term Outcome in 215 Children and Adolescents with Papillary Thyroid Cancer Treated During 1940 Through 2008
BackgroundControversy exists regarding the aggressiveness of initial therapy in childhood papillary thyroid cancer (PTC). Few… 
Review
2010
Review
2010
Rare diseases, orphan drugs and their regulation: questions and misconceptions
Sustained advocacy efforts driven by patients' organizations to make rare diseases a health priority have led to regulatory and… 
Review
2009
Review
2009
Biliary atresia
Review
2008
Review
2008
Advances in celiac disease and gluten-free diet.
Review
2007
Review
2007
Imaging features of invasive and noninvasive fungal sinusitis: a review.
Fungal sinusitis was once considered a rare disorder but is now reported with increasing frequency throughout the world. The… 
Highly Cited
2005
Highly Cited
2005
New predictors of outcome in idiopathic pulmonary arterial hypertension.
Review
1994
Review
1994
The variable clinical phenotype in thyroid hormone resistance syndrome.
Thyroid hormone resistance syndrome (RTH) is a rare disorder characterized by elevated levels of circulating free thyroid… 
Highly Cited
1982
Highly Cited
1982
A two stage design for the study of the relationship between a rare exposure and a rare disease.
Studies of the relationship between a rare disease and a rare exposure to a risk factor require a very large sample size to… 
Highly Cited
1969
Highly Cited
1969
Statewide study of chloramphenicol therapy and fatal aplastic anemia.
Fatal aplastic anemia is a rare disorder, occurring in two per million population each year. Death usually follows overwhelming… 
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