Dermatosparaxis Ehlers-Danlos syndrome
GPTKB entity
Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:computer
|
| gptkbp:bfsLayer |
3
|
| gptkbp:bfsParent |
gptkb:computer
|
| gptkbp:associated_with |
cardiovascular issues
neurological symptoms psychological impact hernias gastrointestinal problems joint hypermobility delayed wound healing vascular issues |
| gptkbp:caused_by |
deficiency of procollagen N-proteinase
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:community_support |
available online
social media groups patient groups |
| gptkbp:current_use |
other types of Ehlers-Danlos syndrome
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:first_described_by |
gptkb:academic_journal
|
| gptkbp:genetic_diversity |
recommended
|
| https://www.w3.org/2000/01/rdf-schema#label |
Dermatosparaxis Ehlers-Danlos syndrome
|
| gptkbp:is_a_resource_for |
gptkb:stock_market_index
gptkb:academic_journal support groups webinars patient brochures |
| gptkbp:is_characterized_by |
easy bruising
surgical complications fragile skin skin hyperextensibility |
| gptkbp:is_popular_in |
rare
|
| gptkbp:lifespan |
gptkb:High_School
|
| gptkbp:public_awareness |
ongoing
|
| gptkbp:research_focus |
genetic mutations
collagen synthesis connective tissue disorders |
| gptkbp:scholarships |
gptkb:stock_market_index
|
| gptkbp:social_responsibility |
variable
genetic testing family history clinical evaluation clinical features genetic testing results |
| gptkbp:symptoms |
joint pain
muscle weakness scarring dental issues skin laxity |
| gptkbp:treatment |
physical therapy
wound care surgery for hernias |