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|
|30%-79% of people have these symptoms|
|Abnormality of the knee||0002815|
Stiff joints[ more ]
Breakdown of bone
|5%-29% of people have these symptoms|
|Abnormal shoulder morphology||
Abnormality of the shoulder
|Abnormal temporal bone morphology||0009911|
|Abnormality of the ankles||0003028|
|Abnormality of the auditory canal||0000372|
|Abnormality of the elbow||
Abnormality of the elbows
|Abnormality of the hip joint||0001384|
|Abnormality of the tympanic membrane||
Abnormality of the eardrum
|Abnormality of the wrist||
Abnormalities of the wrists
|Conductive hearing impairment||
Conductive hearing loss[ more ]
Swelling caused by excess lymph fluid under skin
|1%-4% of people have these symptoms|
Calcium deposits in joints
Learn more orphan products.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.