osteogenesis imperfecta type 19

Term ID

DOID:0111847

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. https://www.ncbi.nlm.nih.gov/pubmed/27380894

References

• OMIM:301014

Ontology

Human Disease   ( DOID:0111847 )