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Showing Results for "list of rare diseases-d"


Filtered by: Type=Diseases;

Disseminated superficial actinic porokeratosis (Disease)
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 database, Touitou et. al. The expanding spectrum of rare monogenic autoinflammatory diseases. Orphanet Journal of Rare Diseases. 2013; 8:162:http://www.ojrd.com/content/8/1/162. Linda V Spencer. Porokeratosis ...

Mevalonic aciduria (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, ; Musculoskeletal Diseases; RDCRN; Skin Diseases See More Summary Summary Listen Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that ...

Periodic fever, aphthous stomatitis, pharyngitis and adenitis (Disease)
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 is free of, . Kurtaran H, Karadað A, Catal F, Aktaþ D. PFAPA syndrome: a rare cause of periodic fever. Turk J Pediatr. 2004; http://www.ncbi.nlm.nih.gov/pubmed/15641271. Accessed 10/7/2013. Long S.. Tonsillectomy as ...

Kienbock's disease (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, : Kienbock disease; Bilateral Kienbock's disease Categories: Musculoskeletal Diseases This disease is grouped under: Osteochondrosis Summary Summary Listen Kienbock's disease causes one of the bones in the ...

Hidradenocarcinoma (Disease)
eccrine carcinoma; Primary mucoepidermoid cutaneous carcinoma See More Categories: Rare Cancers Summary Summary Listen Hidradenocarcinoma is a rare tumor caused by the abnormal growth of cells in a sweat, : https://www.cancer.org Rare Cancer Alliance 1649 North Pacana Way Green Valley, AZ 85614 Telephone: 520-625-5495 Website: http://www.rare-cancer.org Do you know of an organization? We want to hear from ...

Osteopetrosis autosomal recessive 7 (Disease)
Listen Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from, organization for individuals with rare diseases and the organizations that serve them. In-Depth Information Medscape Reference provides information on this topic. You may need to register to view the medical ...

Eosinophilic fasciitis (Disease)
for health care 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, 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 GARD. Organizations Supporting this ...

Locked-in 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, . Provide Feedback Other Names: Locked in syndrome; Cerebromedullospinal disconnection Categories: Nervous System Diseases Summary Summary Listen Locked-in syndrome is a rare neurological disorder ...

Abetalipoproteinemia (Disease)
 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 Abetalipoproteinemia, , star-shaped red blood cells (acanthocytosis) Because abetalipoproteinemia is extremely rare, the course of the disease is difficult to predict. This condition is usually diagnosed in infancy due to ...

Tylosis with esophageal cancer (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, carcinoma syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome; Bennion-Patterson syndrome See More Categories: Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers; Congenital and ...

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