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gptkbp:instanceOf
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gptkb:disease
gptkb:heritable_disorder
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gptkbp:abbreviation
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gptkb:hypermobile_Ehlers-Danlos_syndrome
|
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gptkbp:affects
|
gptkb:skeletal_muscle
|
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gptkbp:causedBy
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COL3A1 mutation
COL5A1 mutation
|
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gptkbp:complication
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gptkb:depression
anxiety
chronic pain
autonomic dysfunction
early-onset osteoarthritis
joint dislocation
|
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gptkbp:diagnosedBy
|
gptkb:Beighton_score
clinical criteria
|
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gptkbp:differentialDiagnosis
|
gptkb:Loeys-Dietz_syndrome
gptkb:joint_hypermobility_syndrome
gptkb:Marfan_syndrome
other Ehlers-Danlos syndromes
|
|
gptkbp:firstDescribed
|
1997
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gptkbp:fullName
|
gptkb:hypermobile_Ehlers-Danlos_syndrome
|
|
gptkbp:hasNo
|
cure
known genetic marker
skin fragility (unlike other EDS types)
|
|
gptkbp:ICD-10_code
|
Q79.6
|
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gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:managedBy
|
multidisciplinary team
|
|
gptkbp:OMIM
|
130020
|
|
gptkbp:partOf
|
gptkb:Ehlers-Danlos_syndromes
|
|
gptkbp:prevalence
|
gptkb:unknown
|
|
gptkbp:relatedTo
|
gptkb:classical_Ehlers-Danlos_syndrome
gptkb:vascular_Ehlers-Danlos_syndrome
hypermobility spectrum disorder
|
|
gptkbp:riskFactor
|
family history
|
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gptkbp:symptom
|
fatigue
joint pain
muscle pain
dysautonomia
easy bruising
joint hypermobility
gastrointestinal issues
joint instability
soft skin
|
|
gptkbp:treatment
|
gptkb:exercise
occupational therapy
physical therapy
pain management
joint protection
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
hEDS
|