Ehlers-Danlos syndrome, type I
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affectedGene |
gptkb:COL5A2
gptkb:COL5A1 |
| gptkbp:alsoKnownAs |
EDS type I
|
| gptkbp:complication |
chronic pain
joint dislocation wound healing problems |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome, type I
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos |
| gptkbp:OMIM |
130000
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:subclassOf |
Ehlers-Danlos syndrome
|
| gptkbp:symptom |
easy bruising
joint hypermobility hyperextensible skin widened atrophic scars |
| gptkbp:treatment |
physical therapy
symptomatic management |
| gptkbp:bfsParent |
gptkb:COL5A1
|
| gptkbp:bfsLayer |
7
|