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osteogenesis imperfecta type 16
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.
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. OI16 is a severe form.
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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110345
OMIM:616229
UMLS:C4015610
MONDO:0014544
High level summary of knowledge for a disease, including descriptions and datasource references.