Term Name: osteogenesis imperfecta type 19
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 )

Relationships
is a type of: osteogenesis imperfecta X-linked recessive disease