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osteogenesis imperfecta type 1
Summary
- Synonym
-
- OI1
- osteogenesis imperfecta type I
- 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.
- Super Class
- autosomal dominant disease osteogenesis imperfecta
External Links
- Disease Ontology
- DOID:0110334
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
