Preferred Name | Ehlers-Danlos Syndrome [Disease/Finding] | |
Synonyms |
Ehlers Danlos Disease Ehlers-Danlos Syndrome Ehlers-Danlos Disease Cutis Elastica |
|
ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001059 |
|
altLabel |
Ehlers Danlos Disease Ehlers-Danlos Syndrome Ehlers-Danlos Disease Cutis Elastica |
|
cui |
C0013720 |
|
MESH DEFINITION |
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. |
|
MESH DUI |
D004535 |
|
MeSH name |
Ehlers-Danlos Syndrome |
|
MESH UI |
M0007138 |
|
NDFRT kind |
DISEASE_KIND |
|
notation |
N0000001059 |
|
NUI |
N0000001059 |
|
prefLabel |
Ehlers-Danlos Syndrome [Disease/Finding] |
|
SNOMED CID |
398114001 |
|
tui |
T047 |
|
subClassOf |
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