Ehlers-Danlos syndrome classic type
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:Ehlers-Danlos_syndrome_subtype |
| gptkbp:category |
gptkb:connective_tissue_disorder
|
| gptkbp:causedBy |
mutation in COL5A1 gene
mutation in COL5A2 gene |
| gptkbp:complication |
chronic pain
joint dislocation wound healing problems |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1936
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos |
| gptkbp:OMIM |
130000
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
easy bruising
joint hypermobility atrophic scarring hyperextensible skin |
| gptkbp:treatment |
physical therapy
pain management symptomatic management |
| gptkbp:bfsParent |
gptkb:classical_Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
9
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome classic type
|