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Showing Results for "list of rare diseases-r"


Filtered by: Type=Diseases;

Ring chromosome 15 (Disease)
National Institutes of Health. Visit the website to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database, Disorders (NORD). 2009; http://rarediseases.org/rare-diseases/chromosome-15-ring/. Morava E. Ring 15. Unique. 2005; http://www.rarechromo.org/information/Chromosome%2015/Ring%2015%20FTNW.pdf. Do you know of a ...

PURA syndrome (Disease)
review of published literature. J Med Genet. November 2, 2017; https://www.ncbi.nlm.nih.gov/pubmed/29150892. Do you know of a review article? We want to hear from you. You can help advance rare disease, signs and symptoms may include autism; excessive drowsiness; difficulty controlling body temperature; heart, gastrointestinal, eye and hormonal problems; skeletal problems such as an abnormal curvature of ...

Klippel-Trenaunay syndrome (Disease)
Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website. ClinicalTrials.gov lists trials, experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by ...

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome (Disease)
to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable, organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not ...

IgG4-related dacryoadenitis and sialadenitis (Disease)
for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss IgG4-related, also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an ...

Autoimmune encephalitis (Disease)
language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start The Autoimmune Encephalitis Alliance has a list of frequently asked questions (FAQ, . Selected Full-Text Journal Articles Graus F, Titulaer MJ, Balu R, Benseler S et al., A clinical approach to diagnosis of autoimmune encephalitis. Lancet Neurol. 2016 Apr;15(4):391-404. Binks SNM, Klein CJ ...

Cogan's syndrome (Disease)
biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. GARD Answers GARD Answers Listen Questions, Cogan's syndrome Title Other Names: Cogan syndrome Summary Summary Listen Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include ...

Hypnic headache (Disease)
other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common, condition. Selected Full-Text Journal Articles E. Kerr, R. Hewitt and I.Gleadhill, Benign Headache in the Elderly – A Case Report of Hypnic Headache, Ulster Med J. 2006 May; 75(2): 158–159.!LINK! Do you have ...

Actinomycosis (Disease)
symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in actinomycosis. Symptoms of actinomycosis of the face or neck may include:[1][3][4] Neck, to look for the presence of the bacteria that cause this infection.[1] Because it is so rare, actinomycosis can be mistaken for other conditions and can be difficult to diagnose.[5] Last updated: 6/4 ...

Susac syndrome (Disease)
this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature, /6700170a.pdf. Saux A, Niango G, Charif M, Morales R, Mura F, Bonafe A, and Mourand I. Susac’s syndrome, a rare, potentially severe or lethal neurological disease. Journal of the Neurological Sciences. October 15 ...

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