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| Term | osteogenesis imperfecta type 4 | ID (Ontology) | DOID:0110340 (Human Disease) |
| Definition | An osteogenesis imperfecta that is characterized by bone fragility and normal 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 | "OI4" ; "osteogenesis imperfecta type IV" ; "osteogenesis imperfecta with normal sclera" | ||
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autosomal genetic disease |__autosomal dominant disease__ osteochondrodysplasia | |__osteogenesis imperfecta_____| osteogenesis imperfecta type 4 |
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autosomal dominant disease osteogenesis imperfecta |
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GARD:8696 ICD10CM:Q78.0 MIM:166220 |
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