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Showing Results for "list of rare diseases-0-9"


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Ewing sarcoma (Disease)
Diseases; Rare Cancers This disease is grouped under: Primary bone cancer Summary Summary Listen Ewing sarcoma is a type of cancerous tumor that mainly affects children and young adults. Ewing sarcoma, include decreased numbers of white blood cells, infections, fever, and an increased risk for a second cancer.[1][2][3][4] Last updated: 9/3/2020 Symptoms Symptoms Listen The following list includes the most ...

Addison's disease (Disease)
comprised of endocrinologists who specialize in specific endocrine diseases, including adrenal diseases. The Pituitary Network Association provides a list of pituitary specialists. Related Diseases Related, as drugs that normalize blood pressure.[1][2][3] Last updated: 9/9/2020 Symptoms Symptoms Listen The following list includes the most common signs and symptoms in people with Addison's disease. These ...

Polymyositis (Disease)
have any of these diseases are at a higher risk to develop polymyositis.[1][2] Last updated: 9/25/2017 Inheritance Inheritance Listen Changes (mutations) in a specific gene are not known to cause, type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. The muscles affected by polymyositis are the skeletal muscles (those ...

Multifocal fibrosclerosis (Disease)
access more in-depth information about a symptom. Showing of 9 | View All Medical Terms Other Names Learn More:HPO ID Percent of people who have these symptoms is not available through HPO Abnormal thorax, inflammation 0100646 Showing of 9 | View All Do you have more information about symptoms of this disease? We want to hear from you. Last updated: 2/1/2021 Do you have updated information on this disease? We want ...

Plummer Vinson syndrome (Disease)
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, following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 54028DefinitionPlummer-Vinson or Paterson-Kelly syndrome presents as a classical ...

Urachal cyst (Disease)
Urachal cyst Title Categories: Congenital and Genetic Diseases Summary Summary Listen A urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects, urachus normally disappears before birth, but part of the urachus may remain in some people after they are born. This can lead to urachal abnormalities such as urachal cysts.[1][6] Last updated: 9/29/2017 ...

Sjogren-Larsson syndrome (Disease)
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 journal articles that, (itching) Preterm birth Last updated: 9/21/2012 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may ...

Deficiency of N-glycanase 1 (Disease)
(OMIM) # 615273. June 9, 2015; http://omim.org/entry/615273. Accessed 9/9/2015. Do you know of a review article? We want to hear from you. You can help advance rare disease research! You can help advance, is inherited in an autosomal recessive manner.[1][2] Last updated: 9/9/2015 Symptoms Symptoms Listen This table lists symptoms that people with this disease may have. For most diseases, symptoms will ...

Orofaciodigital syndrome 6 (Disease)
for information on rare diseases and orphan drugs.Orpha Number: 2754DefinitionJoubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of, 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 ...

X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis (Disease)
reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Do you have updated information on this disease? We want to hear from you. GARD Answers GARD, Corpus Callosum provides a list of FAQs about disorders of the corpus callosum. In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help ...

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