classical Ehlers-Danlos syndrome

URI: https://gptkb.org/entity/classical_Ehlers-Danlos_syndrome
GPTKB entity
Statements (32)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:Ehlers-Danlos_syndrome_subtype
gptkbp:affects gptkb:skeletal_muscle
gptkbp:category gptkb:heritable_connective_tissue_disorder
gptkbp:causedBy mutation in COL5A1 gene
mutation in COL5A2 gene
gptkbp:complication chronic pain
wound healing problems
joint dislocations
gptkbp:diagnosedBy clinical evaluation
genetic testing
gptkbp:firstDescribed 1936
gptkbp:frequency rare
gptkbp:hasOrphanetID ORPHA:2869
gptkbp:ICD-10_code Q79.6
gptkbp:inheritance autosomal dominant
gptkbp:namedAfter gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos
gptkbp:OMIM 130000
gptkbp:prevalence 1 in 20,000 to 1 in 40,000
gptkbp:symptom easy bruising
joint hypermobility
atrophic scarring
hyperextensible skin
gptkbp:synonym gptkb:Ehlers-Danlos_syndrome_classic_type
gptkb:cEDS
gptkbp:treatment physical therapy
pain management
protective measures for skin
gptkbp:bfsParent gptkb:Ehlers-Danlos_syndrome_type_I
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label classical Ehlers-Danlos syndrome