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Summary Literature (0)
DOID:0111847 - osteogenesis imperfecta type 19

Disease Ontology 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.

Synonyms: OI19, osteogenesis imperfecta type XIX

Xenbase Genes : mbtps2


MIM:
MIM:301014 - OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteogenesis imperfecta (is_a), X-linked recessive disease (is_a)