|OBO ID: DOID:0110334|
|Term Name:||osteogenesis imperfecta type 1||Search Ontology:|
|Definition:||An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. https://www.ncbi.nlm.nih.gov/pubmed/2873381|
|Ontology:||Human Disease (DOID:0110334)|
|is a type of:||
OTHER osteogenesis imperfecta type 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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