Ehlers-Danlos syndrome type I
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
Ehlers-Danlos syndrome |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
gptkb:classical_Ehlers-Danlos_syndrome
EDS type I |
| gptkbp:category |
heritable connective tissue disorder
|
| gptkbp:complication |
chronic pain
joint dislocation wound healing problems |
| gptkbp:firstDescribed |
1936
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome type I
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL5A2
gptkb:COL5A1 |
| gptkbp:namedAfter |
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos |
| gptkbp:OMIM |
130000
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
joint hypermobility
atrophic scarring hyperextensible skin skin fragility |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:chromosome_9q34
|
| gptkbp:bfsLayer |
7
|