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| Term | osteogenesis imperfecta type 1 | ID (Ontology) | DOID:0110334 (Human Disease) |
| 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. | ||
| Also Known As | "OI1" ; "osteogenesis imperfecta type I" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ osteochondrodysplasia | |__osteogenesis imperfecta_____| osteogenesis imperfecta type 1 |
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| Is a |
autosomal dominant disease osteogenesis imperfecta |
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External Crossreferences & Linkouts
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GARD:8694 MESH:D010013 MIM:166200 NCI:C99003 ORDO:216796 SNOMEDCT_US_2023_03_01:3508009 UMLS_CUI:C0023931 |
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