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osteogenesis imperfecta type 14
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B 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. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.
Disease Ontology Description An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31.
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:0110343
OMIM:615066
UMLS:C3554428
MONDO:0014029
High level summary of knowledge for a disease, including descriptions and datasource references.