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ehlers-danlos syndrome, arthrochalasia type, 2

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.
Mondo Term and Equivalent IDs
MONDO:0040501:  ehlers-danlos syndrome, arthrochalasia type, 2