Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 217,275,344 papers from all fields of science
Search
Sign In
Create Free Account
Rare Diseases
Known as:
Rare Disease
, Rare Diseases [Disease/Finding]
, disease rare
Expand
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
22 relations
Bile Acid Malabsorption, Primary
Childhood Breast Carcinoma
Childhood Colorectal Carcinoma
Childhood Gastric Carcinoma
Expand
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
Lancet Global Health
2019
Corpus ID: 208955718
Highly Cited
2019
Highly Cited
2019
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
S. Nguengang Wakap
,
D. Lambert
,
+6 authors
A. Rath
European Journal of Human Genetics
2019
Corpus ID: 202580065
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to…
Expand
Review
2016
Review
2016
Epidemiology of Lung Cancer.
Y. Mao
,
Ding Yang
,
Jie He
,
M. Krasna
Surgical Oncology Clinics of North America
2016
Corpus ID: 4795609
Highly Cited
2013
Highly Cited
2013
Guidelines for the management of hemophilia
A. Srivastava
,
A. K. Brewer
,
+8 authors
A. Street
Haemophilia
2013
Corpus ID: 29659751
Hemophilia is a rare disorder that is complex to diagnose and to manage. These evidence‐based guidelines offer practical…
Expand
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…
Expand
Highly Cited
2007
Highly Cited
2007
STAT3 mutations in the hyper-IgE syndrome.
S. Holland
,
F. DeLeo
,
+22 authors
B. Grimbacher
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…
Expand
Review
2005
Review
2005
Brugada syndrome: report of the second consensus conference.
C. Antzelevitch
,
P. Brugada
,
+11 authors
A. Wilde
Heart Rhythm
2005
Corpus ID: 12594080
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…
Expand
Highly Cited
1990
Highly Cited
1990
Isolated noncompaction of left ventricular myocardium. A study of eight cases.
T. Chin
,
J. Perloff
,
Robertag . 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…
Expand
Highly Cited
1971
Highly Cited
1971
European Association for the Study of the Liver
Guías de Práctica Clínica
1971
Corpus ID: 39321578
The 6th meeting was held in London on 2, 3, and 4 September under the presidency of B. H. Billing (United Kingdom). The following…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE