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Rare Diseases
Known as:
Rare Disease
, Rare Diseases [Disease/Finding]
, disease rare
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A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis…
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National Institutes of Health
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Related topics
Related topics
22 relations
Bile Acid Malabsorption, Primary
Childhood Breast Carcinoma
Childhood Colorectal Carcinoma
Childhood Gastric Carcinoma
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Narrower (3)
Oculootoradial syndrome
Orphan Diseases
REVESZ 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
M. Arbyn
,
E. Weiderpass
,
+4 authors
F. Bray
The Lancet. Global health
2019
Corpus ID: 208955718
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
,
+240 authors
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…
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Highly Cited
2013
Highly Cited
2013
Introduction
Kevin Jiang
Nature Medicine
2013
Corpus ID: 52867100
nature medicine volume 19 | number 5 | may 2013 515 Life is short—especially for children with Hutchinson-Gilford progeria…
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Highly Cited
2013
Highly Cited
2013
Guidelines for the management of hemophilia
A. Srivastava
,
A. Brewer
,
+8 authors
A. Street
Haemophilia : the official journal of the World…
2013
Corpus ID: 29659751
Hemophilia is a rare disorder that is complex to diagnose and to manage. These evidence‐based guidelines offer practical…
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Highly Cited
2010
Highly Cited
2010
Genetic Heterogeneity in Human Disease
J. McClellan
,
M. King
Cell
2010
Corpus ID: 2437377
Review
2009
Review
2009
Epidemiology of Pervasive Developmental Disorders
E. Fombonne
Pediatric Research
2009
Corpus ID: 20373463
This article reviews the results of 43 studies published since 1966 that provided estimates for the prevalence of pervasive…
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Highly Cited
2007
Highly Cited
2007
STAT3 mutations in the hyper-IgE syndrome.
S. Holland
,
F. DeLeo
,
+22 authors
B. Grimbacher
The New England journal of medicine
2007
Corpus ID: 25885572
BACKGROUND The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and connective tissue characterized by…
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Highly Cited
2002
Highly Cited
2002
Office of Rare Diseases Neuropathologic Criteria for Corticobasal Degeneration
D. Dickson
,
C. Bergeron
,
+11 authors
I. Litvan
Journal of neuropathology and experimental…
2002
Corpus ID: 24898516
A working group supported by the Office of Rare Diseases of the National Institutes of Health formulated neuropathologic criteria…
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Highly Cited
2000
Highly Cited
2000
Paraneoplastic limbic encephalitis: neurological symptoms, immunological findings and tumour association in 50 patients.
S. Gultekin
,
M. Rosenfeld
,
R. Voltz
,
J. Eichen
,
J. Posner
,
J. Dalmau
Brain : a journal of neurology
2000
Corpus ID: 22379291
Paraneoplastic limbic encephalitis (PLE) is a rare disorder characterized by personality changes, irritability, depression…
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Highly Cited
1990
Highly Cited
1990
Isolated noncompaction of left ventricular myocardium. A study of eight cases.
T. Chin
,
J. Perloff
,
R. Williams
,
K. Jue
,
R. Mohrmann
Circulation
1990
Corpus ID: 484030
Isolated noncompaction of left ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by…
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