Orpha Number: 53715
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Calcification of muscles||0100249|
|Periarticular subcutaneous nodules||0007470|
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Abnormality of the palate||
Abnormality of the roof of the mouth
Red and swollen gums[ more ]
Husky voice[ more ]
Sweating, increased[ more ]
|Hypopigmented skin patches||0001053|
Tumor of the skin[ more ]
Increased spleen size
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Rare Tumors Initiative Symposium Strategies to Develop Therapies for Rare Tumors: Small Numbers, but Big Opportunities
Wednesday, June 17, 2015
Location: NIH Natcher Conference Center, Bethesda, MD
Description: The goals of this symposium are to increase communication and build networks between researchers working in rare tumors across NIH, and to get input from patient groups, industry, and the FDA on how to overcome the biggest hurdles in the development of therapies for rare tumors. The Rare Tumors Initiative at NCI, CCR will use this information to prioritize goals for the future and will prepare a white paper summary to help guide researchers worldwide.
Contact: Dr. Karlyne Reilly,(301) 846-7518, email@example.com
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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