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Showing Results for "list of rare diseases-g"


Filtered by: Type=Diseases;

Cystinosis (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 Cystinosis, to drug toxicity or substance abuse, recovery of acute tubulus necrosis), diseases causing phosphaturia and rickets, and proteinuria of unknown etiology. Visit the Orphanet disease page for more ...

Esophageal atresia (Disease)
rare diseases and orphan drugs.Orpha Number: 1199DefinitionOesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without, 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 sent to ...

SYNGAP1-related non-syndromic intellectual disability (Disease)
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 GARD, Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve ...

Melkersson-Rosenthal syndrome (Disease)
. It is meant 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, discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website. Organizations Organizations Listen Support and advocacy groups can help ...

Timothy syndrome (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, 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 ...

Campomelic dysplasia (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, Campomelic dysplasia is a rare genetic disorder that affects the development of the skeleton, reproductive system, and face. Symptoms of campomelic dysplasia may include bowing of the legs, dislocated hips ...

Periodic fever, aphthous stomatitis, pharyngitis and adenitis (Disease)
 successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine.[9] Last updated: 8/16/2013 Related Diseases Related, 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 ...

Limb-body wall complex (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, of the cord; Cyllosomas; Limb body wall complex See More Categories: Congenital and Genetic Diseases; Digestive Diseases Summary Summary Listen Limb-body wall complex (LBWC) is a condition ...

Acanthoma (Disease)
", "epidermolytic", "clear cell", and "melanoacanthoma".[1] Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many. The exact cause of acanthoma is not, any associated symptoms.[2][3] Because acanthomas are quite rare, there are no established guidelines for treatment. Treatment may depend on the type, number, and location of acanthomas. For example, a ...

Congenital insensitivity to pain with anhidrosis (Disease)
& Gold-Von Simson G. Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet Journal of Rare Diseases. 2007; 2:39:http://www.ojrd.com/content/2/1/39. Haga N, Kubota M & Miwa Z, 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 drugs ...

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