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Showing Results for "list of rare diseases-g"


Filtered by: Type=Diseases;

Arthrogryposis multiplex congenita neurogenic type (Disease)
://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/. Ambegaonkar G, Manzur AY, Robb SA, Kinali M, Muntoni F. The multiple phenotypes of arthrogryposis multiplex congenita with reference to the, is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of ...

Diploid-triploid mosaicism (Disease)
rare. Less than 40 cases have been reported in the literature. The exact number of people with this condition is unknown.[2] Last updated: 5/29/2020 Do you have updated information on this disease? We, 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 ...

Simpson-Golabi-Behmel syndrome (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, -Behmel syndrome types I and II.. Orphanet Journal of Rare Diseases. 2014; 9(138):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254265/. Simpson-Golabi-Behmel syndrome. Genetics Home Reference. July 2017 ...

Swyer syndrome (Disease)
with Swyer syndrome are infertile, they may become pregnant with the use of donated eggs.[1][2][3] Last updated: 4/23/2020 Symptoms Symptoms Listen The following list includes the most common signs and, (GHR) contains information on Swyer syndrome. This website is maintained by the National Library of Medicine. The National Organization for Rare Disorders (NORD) has a report for patients and families ...

Sertoli-leydig cell tumors (Disease)
the ovary; Arrhenoblastoma of ovary See More Categories: Rare Cancers Summary Summary Listen Sertoli-Leydig cell tumors are a cancer that starts in the female ovaries. The cancer cells produce and, of the ovary or a stromal tumor.[1][2] Sertoli-Leydig cell tumors are rare tumors which account for less than 0.5% of all ovarian tumors. While they can be found in women of all age groups, they are ...

Floating-Harbor syndrome (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 Floating-Harbor syndrome, 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 ...

Diabetic mastopathy (Disease)
compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the, J. 2007; http://www.ncbi.nlm.nih.gov/pubmed/17983405. Do you know of a review article? We want to hear from you. You can help advance rare disease research! You can help advance rare disease research ...

Marden-Walker syndrome (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 Marden-Walker syndrome, . Marden Walker Syndrome. National Organization for Rare Disorders (NORD). 2004; http://rarediseases.org/rare-diseases/marden-walker-syndrome/. Accessed 8/3/2016. Injeti G, Taksande A. Marden-Walker syndrome ...

Milroy disease (Disease)
://rarediseases.org/rare-diseases/hereditary-lymphedema. Bolletta A, Di Taranto G, Chen SH, Elia R, Amorosi V, Chan JC, Chen HC. Surgical treatment of Milroy disease. J Surg Oncol. 2020; 121(1):175-181. https, 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 literature and lists ...

Birk-Barel 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, ) of different 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 ...

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