OBO ID: DOID:0110339 |
Term Name: | osteogenesis imperfecta type 3 | Search Ontology: | |
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Definition: | An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (2) | ||
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Ontology: | Human Disease ( DOID:0110339 ) |
OTHER osteogenesis imperfecta type 3 PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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col1a1adc124/+ | standard conditions | Gistelinck et al., 2018 |
PHENOTYPE
No data available
CITATIONS (1)
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