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Showing Results for "list of rare diseases-r"


Filtered by: Type=Diseases;

Henoch-Schonlein purpura (Disease)
(NIDDK) conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic. The National Organization for Rare Disorders (NORD) has, 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 and lists ...

Sacrococcygeal Teratoma (Disease)
-diseases/sacrococcygeal-teratoma-sct/about#.VsTF7_krJhE. Accessed 1/22/2016. Do you know of a review article? We want to hear from you. You can help advance rare disease research! You can help advance rare, Sacrococcygeal Teratoma Title Categories: Rare Cancers Summary Summary Listen A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in ...

Optic neuritis (Disease)
Optic neuritis Title Categories: Eye diseases Summary Summary Listen Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.[1][2] The, condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity ...

Variant Creutzfeldt-Jakob disease (Disease)
decline. All forms of CJD belong to a rare family of progressive neurodegenerative disorders that affect both humans and animals, called prion diseases. The term "prion" refers to abnormal proteins within, Categories: Nervous System Diseases Summary Summary Listen Variant Creutzfeldt-Jakob disease (vCJD) is a type of Creutzfeldt-Jakob disease (CJD) characterized by early psychiatric symptoms and cognitive ...

Limbic encephalitis with LGI1 antibodies (Disease)
factsheet on Limbic encephalitis with LGI1 antibodies In-Depth Information Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge, long-term outcome. Neurology. 2016 Aug 23; 87(8):759-65. Varley J, Taylor J, Irani SR. Autoantibody-mediated diseases of the CNS: Structure, dysfunction and therapy. Neuropharmacology. 2017:1-12 ...

Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease (Disease)
nuclear factor 1 Beta-associated diseases (HNF1B-associated diseases) are a group of genetic conditions that affect the kidney as well as other organ systems.[1][2] The most common symptoms are associated, Poussou R, de Baaij JH. Hypomagnesemia as first clinical manifestation of ADTKD-HNF1B: A case series and literature review. Am J Nephrol. 2015; 42(1):85-90. https://www.ncbi.nlm.nih.gov/pubmed/26340261 ...

Cold urticaria (Disease)
with cold urticaria, a distinct red and swollen rash will generally develop within minutes of exposure. Additional blood tests may be done to determine if there are associated diseases. Diagnostic, someone with cold urticaria include: Allergist Immunologist Last updated: 5/11/2020 Statistics Statistics Listen Cold urticaria is rare and the exact number of people that have it is unknown. The incidence ...

Pentalogy of Cantrell (Disease)
professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database, answer Have a question? Contact a GARD Information Specialist. References References Pentalogy of Cantrell. NORD. January 28, 2014; http://rarediseases.org/rare-disease-information/rare-diseases/byID/939 ...

Wildervanck syndrome (Disease)
Hopkins University School of Medicine. 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, individuals with rare diseases and the organizations that serve them. In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and ...

Wallenberg syndrome (Disease)
brainstem encephalitis (relating to herpes) head injury arteriovenous malformations (AVMs) multiple sclerosis varicella infection brainstem tuberculoma (a rare form of tuberculosis) Last updated: 5/23/2017, condition from humans and 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 ...

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