Orpha Number: 2221
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 eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
Abnormal eyelid morphology |
Abnormality of the eyelid
Abnormality of the eyelids
[ more ]
|
0000492 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Hypopigmentation of hair |
Loss of hair color
|
0005599 |
30%-79% of people have these symptoms | ||
Glossitis |
Inflammation of the tongue
Smooth swollen tongue
[ more ]
|
0000206 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
5%-29% of people have these symptoms | ||
Darkened and thickened skin
|
0000956 | |
Chronic diarrhea | 0002028 | |
Ichthyosis | 0008064 | |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Breast tumor
Tumours of the breast
[ more ]
|
0100013 | |
Neoplasm of the respiratory system |
Respiratory system tumor
|
0100606 |
Ovarian neoplasm |
Ovarian tumor
|
0100615 |
Poor appetite |
Decreased appetite
|
0004396 |
Weight loss | 0001824 |
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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