Orpha Number: 202
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 | ||
| Alopecia |
Hair loss
|
0001596 |
| Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
|
Decreased activity of gonads
|
0000135 | |
| Pili torti |
Flattened and twisted hair
|
0003777 |
| Sensorineural hearing impairment | 0000407 | |
| Sparse body hair | 0002231 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the eye |
Abnormal eye
|
0000478 |
| Abnormality of the |
0000035 | |
| Brittle hair | 0002299 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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