Mondo Description Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.
Uniprot Description A 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. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae.
Disease Ontology Description An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13.
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.
This disease has been annotated by GARD as a rare disease.
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:0110346
GARD:0012874
OMIM:613848
UMLS:C3151211
MONDO:0013459
High level summary of knowledge for a disease, including descriptions and datasource references.