OBO ID: DOID:0111847 |
Term Name: | osteogenesis imperfecta type 19 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111847 ) |
OTHER osteogenesis imperfecta type 19 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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