Orpha Number: 2619
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||
|80%-99% of people have these symptoms|
|Abnormal form of the vertebral bodies||0003312|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the hip bone||
Abnormality of the hips
|Abnormality of the knee||0002815|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the elbow||
Abnormality of the elbows
|Abnormality of the wrist||
Abnormalities of the wrists
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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