Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
type of Ehlers-Danlos syndrome |
| gptkbp:abbreviation |
gptkb:classical_Ehlers-Danlos_syndrome
|
| gptkbp:cause |
mutation in COL5A1 gene
mutation in COL5A2 gene |
| gptkbp:complication |
chronic pain
easy bruising joint dislocations |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
19th century
|
| gptkbp:fullName |
gptkb:classical_Ehlers-Danlos_syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
cEDS
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
130000
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
joint hypermobility
atrophic scarring hyperextensible skin |
| gptkbp:treatment |
physical therapy
symptomatic management |
| gptkbp:bfsParent |
gptkb:classical_Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
7
|