Kyphoscoliotic Ehlers-Danlos syndrome
GPTKB entity
Statements (64)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:computer
|
| gptkbp:bfsLayer |
3
|
| gptkbp:bfsParent |
gptkb:computer
|
| gptkbp:affects |
both genders
|
| gptkbp:associated_with |
gptkb:historical_event
gptkb:computer anxiety sleep disorders vision problems hearing loss muscle weakness fibromyalgia surgical complications immunodeficiency varicose veins chronic infections pneumothorax endocrine disorders hernias scoliosis menstrual irregularities autonomic dysfunction dental issues gastroesophageal reflux disease (GERD) chronic sinusitis kyphosis thyroid issues dysautonomia fat malabsorption chronic headaches early onset osteoarthritis |
| gptkbp:caused_by |
skin hyperelasticity
joint hypermobility |
| gptkbp:clinical_trial |
gastrointestinal issues
cardiovascular problems vascular complications hypermobile joints skin fragility |
| gptkbp:descendant |
autosomal recessive inheritance
|
| gptkbp:difficulty |
variable
|
| gptkbp:first_described_by |
gptkb:academic_journal
|
| https://www.w3.org/2000/01/rdf-schema#label |
Kyphoscoliotic Ehlers-Danlos syndrome
|
| gptkbp:is_a |
gptkb:physicist
|
| gptkbp:is_a_basis_for |
CO L1 A1 gene mutations
CO L5 A1 gene mutations |
| gptkbp:is_popular_in |
rare
|
| gptkbp:is_recognized_by |
genetic mutations
clinical criteria |
| gptkbp:manager |
pain management
orthopedic interventions |
| gptkbp:premiered_on |
childhood
|
| gptkbp:related_to |
gptkb:Marfan_syndrome
gptkb:osteogenesis_imperfecta Ehlers-Danlos syndromes |
| gptkbp:research_focus |
collagen synthesis
connective tissue disorders |
| gptkbp:social_responsibility |
genetic testing
clinical evaluation |
| gptkbp:symptoms |
fatigue
chronic pain easy bruising joint dislocations |
| gptkbp:treatment |
gptkb:hospital
physical therapy |