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Showing Results for "list of rare diseases-j"


Filtered by: Type=Diseases;

Collagenous gastritis (Disease)
Diseases Summary Summary Listen Collagenous gastritis (CG) is a rare condition that primarily affects the digestive system. People with CG have increased buildup of collagen in the subepithelial layer of the, , Melzer E, Granot E. Collagenous gastritis: a rare cause of abdominal pain and iron-deficiency anemia. J Pediatr Gastroenterol Nutr. November 2007; 45(5):603-606. https://www.ncbi.nlm.nih.gov/pubmed ...

Cone dystrophy (Disease)
. References References Heckenlively J. Cone Dystrophy. NORD. 2010; https://rarediseases.org/rare-diseases/cone-dystrophy/. Simunovic, M.P., Moore, A.T. The cone dystrophies. Royal College of Ophthalmologists, /rare-disease-information/rare-diseases/byID/847/viewAbstract. Accessed 9/2/2014. Openshaw A, Branham K, Heckenlively J. Understanding Cone Dystrophy. University of Michigan Kellogg Eye Center. February ...

Astroblastoma (Disease)
astroblastoma Categories: Rare Cancers Summary Summary Listen Astroblastoma is a rare glial tumor usually located in the cerebral hemisphere of the brain.[1] It can occur in individuals of any age, but occurs, predominantly in children and young adults.[2] Signs and symptoms depend on the location and size of the tumor but most commonly include headaches and seizures.[1] Because these tumors are rare, there is little ...

IgG4-related dacryoadenitis and sialadenitis (Disease)
and is funded by the 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, many faces. Orphanet J Rare Dis. 2014; 9:110:https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0110-z. Do you know of a review article? We want to hear from you. You can help advance rare ...

Hereditary sensory and autonomic neuropathy type 1E (Disease)
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 is free of, . Brain. 2015 Apr;138(Pt 4):845-61. The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for ...

Diploid-triploid mosaicism (Disease)
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. Organizations, diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to ...

Lupus erythematosus tumidus (Disease)
: Intermittent cutaneous lupus; Tumid lupus erythematosus Categories: Skin Diseases Subtypes: Cutaneous lupus erythematosus Summary Summary Listen Tumid erythematosus lupus is considered a rare type of chronic, Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. News & Events News & Events Listen News Rare Disease Day at NIH ...

Acrogeria, Gottron type (Disease)
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 of medical, rare case of acrogeria. Med J Armed Forces India. 2013; 69(4):406-408. https://pubmed.ncbi.nlm.nih.gov/24600155. Maroofian R, Murdocca M, Rezaei-Delui H, et al. A novel in-frame deletion in ZMPSTE24 is ...

Limbic encephalitis (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, 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 discover ...

Hemoglobin SE disease (Disease)
helpful. Many people with HbSE do not need treatment, while others need management of their specific symptoms.[1][2][3] Last updated: 5/18/2020 Symptoms Symptoms Listen The following list includes the most, Reported Case of Proliferative Retinopathy in Hemoglobin SE Disease. Case Rep Ophthalmol Med. 2014;2014:782923.. 2014; 2014:782923. https://pubmed.ncbi.nlm.nih.gov/25210638. Smith A, Cooper B, Guileyardo J ...

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