You are using an outdated browser. Please upgrade your browser to improve your experience.
This repository is under review for potential modification in compliance with Administration directives.
Ehlers-Danlos/osteogenesis imperfecta syndrome
Disease Summary
Associated Targets ()
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.
Download Data for Ehlers-Danlos/osteogenesis imperfecta syndrome
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C565178
OMIMPS:619115
Orphanet:230857
UMLS:CN201460
MONDO:0016470
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.