|
gptkbp:instanceOf
|
genetic disorder
syndrome
|
|
gptkbp:affects
|
gptkb:skeletal_muscle
|
|
gptkbp:complication
|
chronic pain
arterial rupture
joint dislocation
organ rupture
|
|
gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
|
|
gptkbp:fieldOfStudy
|
medical genetics
rheumatology
|
|
gptkbp:firstDescribed
|
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos
|
|
gptkbp:hasRelatedDisorder
|
gptkb:Loeys-Dietz_syndrome
gptkb:Stickler_syndrome
gptkb:cutis_laxa
gptkb:Marfan_syndrome
osteogenesis imperfecta
|
|
gptkbp:ICD-10_code
|
Q79.6
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D004535
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ADAMTS2_gene
gptkb:COL5A2_gene
gptkb:PLOD1_gene
gptkb:TNXB_gene
gptkb:COL1A1_gene
gptkb:COL1A2_gene
gptkb:COL3A1_gene
gptkb:COL5A1_gene
|
|
gptkbp:namedAfter
|
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos
|
|
gptkbp:OMIM
|
130000
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:prognosis
|
varies by subtype
|
|
gptkbp:subspecies
|
gptkb:arthrochalasia_Ehlers-Danlos_syndrome
gptkb:classical_Ehlers-Danlos_syndrome
gptkb:dermatosparaxis_Ehlers-Danlos_syndrome
gptkb:hypermobile_Ehlers-Danlos_syndrome
gptkb:kyphoscoliotic_Ehlers-Danlos_syndrome
gptkb:vascular_Ehlers-Danlos_syndrome
|
|
gptkbp:symptom
|
joint hypermobility
skin hyperextensibility
tissue fragility
|
|
gptkbp:treatment
|
occupational therapy
physical therapy
pain management
surgical intervention
|
|
gptkbp:bfsParent
|
gptkb:EDS
gptkb:Jameela_Jamil
|
|
gptkbp:bfsLayer
|
5
|