Terminology Service for NFDI4Health

Ehlers-Danlos/osteogenesis imperfecta syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0016470


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. [ ]

Term info

Label

Ehlers-Danlos/osteogenesis imperfecta syndrome

Synonyms
  • EDS/OI syndrome
database cross reference
Subsets

ordo_disease

exactMatch

http://purl.obolibrary.org/obo/Orphanet_230857, https://omim.org/phenotypicSeries/PS619115, http://identifiers.org/mesh/C565178, http://linkedlifedata.com/resource/umls/id/CN201460

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019704

id

MONDO:0016470