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


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Ring chromosome 9 (Disease)
: Chromosome 9 ring; Ring 9; R9 Categories: Chromosome Disorders; Congenital and Genetic Diseases Summary Summary Listen Ring chromosome 9 is a very rare chromosome abnormality in which the ends of chromosome 9, families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. Unique is a source of information and support to families and ...

Acute posterior multifocal placoid pigment epitheliopathy (Disease)
diseases and conditions and the preservation of eye health. The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy, . Accessed 9/9/2014. Epitheliopathy, Acute Posterior Multifocal Placoid Pigment. National Organization for Rare Disorders (NORD). 2003; https://rarediseases.org/rare-diseases/epitheliopathy-acute-posterior ...

Gamma heavy chain disease (Disease)
heavy chain disease.[1][2][3][4] Last updated: 9/30/2020 Symptoms Symptoms Listen The following list includes the most common signs and symptoms in people with gamma heavy chain disease. These features, disease have no symptoms. Some people will develop an aggressive form of lymphoma.[2][3] Last updated: 9/30/2020 Cause Cause Listen The causes or risk factors for gamma heavy chain disease are not known ...

Orofaciodigital syndrome 9 (Disease)
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, Orofaciodigital syndrome 9 Title #feedback-survey{ margin-top: 1em; border: 1px solid #e8e7e3; padding: 1em 0; font-weight: bold; text-align: center; } #feedback-survey-button { margin: .5em 0 ...

Cogan-Reese 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, . National Organization for Rare Disorders (NORD). March 18, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/267/viewAbstract. Accessed 9/30/2014. Shields CL, Shields MV, Viloria ...

Chromosome 9p duplication (Disease)
://rarediseases.org/rare-diseases/chromosome-9-trisomy-9p-multiple-variants/. Chromosome 9p duplication. Unique. 2011; http://www.rarechromo.org/information/Chromosome%20%209/9p%20duplications%20FTNW.pdf. Accessed 12, is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size ...

Mosaic trisomy 9 (Disease)
trisomy chromosome 9; Trisomy 9 mosaicism Categories: Chromosome Disorders; Congenital and Genetic Diseases Summary Summary Listen Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of, which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms.[1][2] In rare cases, mosaic trisomy 9 is inherited from a parent with a ...

Erythema nodosum, idiopathic (Disease)
: Idiopathic erythema nodosum; Erythema nodosum of unknown etiology Categories: Skin Diseases Summary Summary Listen Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less, , and swelling of the affected area.[1] In many cases, EN is presumed to be a delayed reaction to antigens associated with various infections, drugs, and certain systemic diseases.[3] In some cases ...

Intravascular papillary endothelial hyperplasia (Disease)
includes surgery to remove the tumor.[1][2][3][4] Last updated: 9/22/2020 Symptoms Symptoms Listen The following list includes the most common signs and symptoms in people with intravascular papillary, tumor, and once it is removed, it rarely comes back.[2] Last updated: 9/22/2020 Cause Cause Listen The cause of intravascular papillary endothelial hyperplasia is unknown. It may be due to a combination ...

Pulmonary vein stenosis (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, : Pulmonary veins stenosis Categories: Blood Diseases; Congenital and Genetic Diseases; Heart Diseases Summary Summary Listen Pulmonary vein stenosis is a very rare and serious condition in which there is a ...

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