|OBO ID: DOID:0111847|
|Term Name:||osteogenesis imperfecta type 19||Search 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. https://www.ncbi.nlm.nih.gov/pubmed/27380894|
|Ontology:||Human Disease (DOID:0111847)|
|is a type of:||
OTHER osteogenesis imperfecta type 19 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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