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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of the intervertebral disk | 0005108 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Skeletal dysplasia | 0002652 | |
30%-79% of people have these symptoms | ||
Abnormal heart valve morphology | 0001654 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
5%-29% of people have these symptoms | ||
Arterial thrombosis |
Blood clot in artery
|
0004420 |
0000822 | ||
Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
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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