Properties (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:age |
childhood
early adulthood adolescence |
| gptkbp:associated_with |
gastrointestinal complications
dental issues aortic dissection vascular complications mitral valve prolapse |
| gptkbp:colors |
teal
|
| gptkbp:demographics |
1 in 5,000 to 1 in 20,000
|
| gptkbp:diseaseResistance |
genetic testing
clinical evaluation |
| gptkbp:events |
May
|
| gptkbp:geneticDiversity |
mutations in collagen genes
mutations in other connective tissue genes mutations in tenascin genes |
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome
|
| gptkbp:impact |
surgery
physical therapy pain management increased risk of injury psychosocial effects connective tissue need for ongoing medical care challenges in daily activities |
| gptkbp:introduced |
gptkb:Edvard_Ehlers
Hermann_Danlos |
| gptkbp:nobleFamily |
autosomal dominant
autosomal recessive |
| gptkbp:provides |
gptkb:Ehlers-Danlos_Society
local support groups |
| gptkbp:research_focus |
patient quality of life
genetic mutations collagen synthesis clinical management |
| gptkbp:symbol |
ribbon
|
| gptkbp:symptoms |
chronic pain
easy bruising joint dislocations hypermobile joints skin hyperelasticity |
| gptkbp:type |
gptkb:arthrochalasia_type
classical type dermatosparaxis type hypermobility type kyphoscoliotic type vascular type |