Term Name: | osteogenesis imperfecta type 19 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111847] ( DOID:0111847 ) |