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Ehlers-Danlos/osteogenesis imperfecta syndrome

^ 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. [ Orphanet:230857 ]

Term info

database cross reference
  • Orphanet:230857 (MONDO:equivalentTo)
  • OMIMPS:619115 (MONDO:equivalentTo)
  • UMLS:CN201460 (MONDO:equivalentTo)
  • MESH:C565178 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

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.

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

has exact synonym

EDS/OI syndrome

id

MONDO:0016470