Orpha Number: 1345
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|
|Abnormality of the intervertebral disk||0005108|
Clouding of the lens of the eye
Cloudy lens[ more ]
Enlarged and thickened heart muscle
|30%-79% of people have these symptoms|
|Abnormal heart valve morphology||0001654|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
Death of bone due to decreased blood supply
|Congestive heart failure||
Heart failure[ more ]
Stiff joints[ more ]
Degenerative joint disease
|5%-29% of people have these symptoms|
Blood clot in artery
Blood clot in artery of lung
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.
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