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osteogenesis imperfecta type 17

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.
Uniprot Description An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.
Disease Ontology Description An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33.
Mondo Term and Equivalent IDs
MONDO:0014672:  osteogenesis imperfecta type 17
UMLS:C4225301: