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Metadata
ID	DOID:0111847
Name	osteogenesis imperfecta type 19
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
Xrefs	OMIM:301014
Synonyms	OI19 [EXACT] osteogenesis imperfecta type XIX [EXACT]
Parent Relationships	is_a osteogenesis imperfecta is_a X-linked recessive disease