Dermatosparaxis Ehlers-Danlos syndrome
GPTKB entity
Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Ehlers-Danlos_syndrome
|
| 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:characterized_by |
easy bruising
surgical complications fragile skin skin hyperextensibility |
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:community_support |
available online
social media groups patient groups |
| gptkbp:condition |
other types of Ehlers-Danlos syndrome
|
| gptkbp:diagnosis |
variable
genetic testing family history clinical evaluation clinical features genetic testing results |
| gptkbp:educational_resources |
gptkb:literature
available support groups webinars patient brochures |
| gptkbp:financial_support |
available
|
| gptkbp:first_described_by |
gptkb:literature
|
| gptkbp:genetic_studies |
recommended
|
| https://www.w3.org/2000/01/rdf-schema#label |
Dermatosparaxis Ehlers-Danlos syndrome
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:lifespan |
gptkb:normal
|
| gptkbp:prevalence |
rare
|
| gptkbp:public_awareness |
ongoing
|
| gptkbp:research_focus |
genetic mutations
collagen synthesis connective tissue disorders |
| gptkbp:symptoms |
joint pain
muscle weakness scarring dental issues skin laxity |
| gptkbp:treatment |
physical therapy
wound care surgery for hernias |
| gptkbp:bfsParent |
gptkb:Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
6
|