Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
type of Ehlers-Danlos syndrome |
| gptkbp:alternativeName |
gptkb:Ehlers-Danlos_syndrome_classic_type
gptkb:cEDS |
| gptkbp:complication |
chronic pain
wound healing problems joint dislocations |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| https://www.w3.org/2000/01/rdf-schema#label |
classical EDS
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL5A2_gene
gptkb:COL5A1_gene |
| gptkbp:OMIM |
130000
|
| gptkbp:prevalence |
1 in 20,000 to 1 in 40,000
|
| gptkbp:symptom |
joint hypermobility
skin hyperextensibility atrophic scarring |
| gptkbp:bfsParent |
gptkb:hypermobile_Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
7
|