Ehlers-Danlos syndrome, classical type

URI: https://gptkb.org/entity/Ehlers-Danlos_syndrome,_classical_type
GPTKB entity
Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkbp:affects collagen synthesis
gptkbp:alsoKnownAs EDS classical type
gptkbp:category gptkb:heritable_connective_tissue_disorder
gptkbp:complication chronic pain
joint dislocation
wound healing problems
gptkbp:diagnosedBy clinical evaluation
genetic testing
gptkbp:firstDescribed Tschernogobow
gptkbp:frequency rare
gptkbp:ICD-10_code Q79.6
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:COL5A2_gene
gptkb:COL5A1_gene
gptkbp:namedAfter gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos
gptkbp:OMIM 130000
gptkbp:onset congenital
gptkbp:prevalence 1 in 20,000 to 1 in 40,000
gptkbp:subspecies gptkb:Ehlers-Danlos_syndrome
classical type I
classical type II
gptkbp:symptom easy bruising
joint hypermobility
atrophic scarring
hyperextensible skin
gptkbp:treatment physical therapy
symptomatic management
protective measures
gptkbp:bfsParent gptkb:COL5A1
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label Ehlers-Danlos syndrome, classical type