Classical Ehlers-Danlos syndrome
GPTKB entity
Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:computer
|
| gptkbp:bfsLayer |
3
|
| gptkbp:bfsParent |
gptkb:computer
|
| gptkbp:affects |
connective tissue
|
| gptkbp:associated_with |
CO L5 A1 gene
CO L5 A2 gene |
| gptkbp:complications |
chronic pain
cardiovascular issues joint dislocations gastrointestinal issues dental issues |
| gptkbp:current_use |
joint hypermobility syndrome
vascular Ehlers-Danlos syndrome |
| gptkbp:descendant |
autosomal dominant
|
| gptkbp:diet |
dietary changes
ergonomic adjustments exercise programs |
| gptkbp:famous_person |
gptkb:Megan_Fox
gptkb:Joni_Mitchell gptkb:Jesse_Jackson gptkb:Kylie_Minogue gptkb:Jared_Joseph_Leto |
| gptkbp:first_described_by |
gptkb:Edvard_Ehlers
Henrik Danlos |
| gptkbp:genetic_diversity |
exome sequencing
CO L5 A1 mutation analysis CO L5 A2 mutation analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
Classical Ehlers-Danlos syndrome
|
| gptkbp:is_a |
gptkb:physicist
|
| gptkbp:is_popular_in |
1 in 5,000 to 1 in 10,000
|
| gptkbp:public_awareness |
public awareness campaigns
medical education patient advocacy groups |
| gptkbp:research_focus |
genetic mutations
treatment options collagen structure |
| gptkbp:social_responsibility |
genetic testing
family history clinical evaluation lifetime management variable severity clinical features quality of life impact Beighton score |
| gptkbp:supports |
support groups
online resources genetic counseling |
| gptkbp:symptoms |
easy bruising
hypermobile joints skin hyperelasticity |
| gptkbp:treatment |
gptkb:hospital
physical therapy pain management |