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osteogenesis imperfecta type 15
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 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. OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.
Disease Ontology Description An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13.
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110347
OMIM:615220
UMLS:C3808844
MONDO:0014086
High level summary of knowledge for a disease, including descriptions and datasource references.