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Ehlers-Danlos syndrome, musculocontractural type

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
Mondo Term and Equivalent IDs
MONDO:0011142:  Ehlers-Danlos syndrome, musculocontractural type
GARD:0000545: 
GARD:0008486: 
MESH:C000600608: 
Orphanet:2953: 
SCTID:720860004: