Orpha Number: 1334
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 fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
| Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ]
|
0008388 |
| Broad nail |
Broad fingernails
Wide fingernails
[ more ]
|
0001821 |
| Cheilitis |
Inflammation of the lips
|
0100825 |
| Erythema | 0010783 | |
| Hyperkeratosis | 0000962 | |
| Skin rash | 0000988 | |
| Skin ulcer |
Open skin sore
|
0200042 |
| 30%-79% of people have these symptoms | ||
| Abnormal vagina morphology | 0000142 | |
| Dyspareunia | 0030016 | |
| Papule | 0200034 | |
| 5%-29% of people have these symptoms | ||
| Abnormal endocardium morphology | 0004306 | |
| Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
| Abnormality of temperature regulation |
Poor temperature regulation
|
0004370 |
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
| Cough |
Coughing
|
0012735 |
| Feeding difficulties in infancy | 0008872 | |
| Hematuria |
Blood in urine
|
0000790 |
| Hemoptysis |
Coughing up blood
|
0002105 |
| Hepatitis |
Liver inflammation
|
0012115 |
| Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
|
0000010 |
| 0001250 | ||
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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