Ehlers-Danlos syndrome, type II
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
EDS type II
Ehlers-Danlos syndrome type 2 classic Ehlers-Danlos syndrome |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Henri-Alexandre_Danlos
A. N. C. Ehlers |
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome, type II
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL5A2_gene
gptkb:COL5A1_gene |
| gptkbp:OMIM |
130010
|
| gptkbp:prevalence |
rare
|
| gptkbp:subclassOf |
Ehlers-Danlos syndrome
|
| gptkbp:symptom |
easy bruising
joint hypermobility atrophic scarring hyperextensible skin |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:COL5A1
|
| gptkbp:bfsLayer |
7
|