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Ehlers-Danlos/osteogenesis imperfecta syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
Mondo Term and Equivalent IDs
MONDO:0016470:  Ehlers-Danlos/osteogenesis imperfecta syndrome
GWAS Targets (0)
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Target Novelty (Tin-x)
No novelty measurements found