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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.
Mondo Term and Equivalent IDs
MONDO:0014029:  osteogenesis imperfecta type 14
UMLS:C3554428: