Orpha Number: 93476
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 | ||
Abnormal heart valve morphology | 0001654 | |
Abnormal vertebral morphology | 0003468 | |
Abnormality of the tonsils | 0100765 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Corneal opacity | 0007957 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hernia | 0100790 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
Rhinitis |
Nasal inflammation
|
0012384 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Skeletal dysplasia | 0002652 | |
Splenomegaly |
Increased spleen size
|
0001744 |
30%-79% of people have these symptoms | ||
Abnormal nerve conduction velocity | 0040129 | |
Abnormal pyramidal sign | 0007256 | |
Sensorineural hearing impairment | 0000407 | |
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
5%-29% of people have these symptoms | ||
Disease of the heart muscle
|
0001638 | |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Percent of people who have these symptoms is not available through HPO | ||
Aortic regurgitation | 0001659 | |
0000007 | ||
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Dysostosis multiplex | 0000943 | |
Hirsutism |
Excessive hairiness
|
0001007 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Mitral regurgitation | 0001653 | |
Obstructive sleep apnea | 0002870 | |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
0002650 | ||
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
Thickened skin |
Thick skin
|
0001072 |
Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
Umbilical hernia | 0001537 |
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