01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Ehlers-Danlos Syndrome
- Standard Disease Name
- ehlers-danlos syndrome
- MeSH Tree
- No data
- ICD-10
- Q79.6
Identifiers
- DO ID
- No data
- MeSH ID
- D004535
- OMIM ID
- No data
- UMLS ID
- C0013720
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.|MSH2017_2016_08_12:A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.|MEDLINEPLUS_20151021:<p>Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken <a href='https://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html'>connective tissues</a>. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. </p> <p>EDS usually affects your skin, joints and blood vessel walls. Symptoms include</p> <ul> <li> Loose joints </li> <li> Fragile, small blood vessels </li> <li> Abnormal scar formation and wound healing </li> <li> Soft, velvety, stretchy skin that bruises easily </li> </ul> <p>There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.</p>|CSP2006:group of inherited disorders of the connective tissue; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues with bleeding and poor wound healing, calcified subcutaneous spheroids, and pseudotumors.