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osteogenesis imperfecta type 2
Summary
- Synonym
-
- OI2
- Vrolik type of osteogenesis imperfecta
- osteogenesis imperfecta type II
- perinatal lethal osteogenesis imperfecta congenita
- Definition
- An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
- Super Class
- autosomal dominant disease osteogenesis imperfecta
External Links
- Disease Ontology
- DOID:0110341
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
