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osteogenesis imperfecta type 19
Summary
- Synonym
-
- OI19
- osteogenesis imperfecta type XIX
- Definition
- An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.
- Super Class
- X-linked recessive disease osteogenesis imperfecta
External Links
- Disease Ontology
- DOID:0111847
- Mondo Disease Ontology
- OMIM
