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 | ||
Cutaneous mastocytosis | 0200151 | |
Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
Papule | 0200034 | |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
Skin plaque | 0200035 | |
30%-79% of people have these symptoms | ||
Cardiac arrest |
Heart stops beating
|
0001695 |
Diarrhea |
Watery stool
|
0002014 |
Dyspnea |
Trouble breathing
|
0002094 |
Headache |
Headaches
|
0002315 |
Nausea and vomiting | 0002017 | |
Rhinitis |
Nasal inflammation
|
0012384 |
5%-29% of people have these symptoms | ||
Skin nodule | 0200036 | |
Telangiectasia of the skin | 0100585 |
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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The diagnosis is usually straightforward but misdiagnosis as chronic urticaria or idiopathic anaphylaxis has been reported.
Visit the
Orphanet disease page
for more information.
|
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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