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 |
---|---|---|
30%-79% of people have these symptoms | ||
Cobblestone-like hyperkeratosis | 0031288 | |
Prominent superficial veins |
Prominent veins
|
0001015 |
Recurrent bacterial skin infections | 0005406 | |
Recurrent fungal infections | 0002841 | |
Stiff skin | 0030053 | |
Structural foot deformity | 0010219 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|
0001482 |
5%-29% of people have these symptoms | ||
Abnormality of forearm bone | 0040072 | |
Abnormality of the hand |
Abnormal hands
Hand anomalies
Hand deformities
[ more ]
|
0001155 |
Abnormality of the knee | 0002815 | |
Abnormality of the |
0100763 | |
Cutaneous cyst | 0025245 | |
Osteomyelitis |
Bone infection
|
0002754 |
0000939 | ||
1%-4% of people have these symptoms | ||
Abdominal mass | 0031500 | |
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of the thorax |
Abnormality of the chest
|
0000765 |
Back pain | 0003418 | |
Bone cyst |
Bone cysts
|
0012062 |
Painless fractures due to injury | 0002661 | |
Paraplegia |
Leg paralysis
|
0010550 |
Pathologic fracture |
Spontaneous fracture
|
0002756 |
0031501 | ||
Scalp tenderness | 0100809 | |
Vertebral compression fractures |
Compression fracture
|
0002953 |
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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Differential diagnoses include tumefactions of other origins.
Visit the
Orphanet disease page
for more information.
|
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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