RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
OI1; osteogenesis imperfecta tarda; osteogenesis imperfecta type 1, mild; osteogenesis imperfecta type I; osteogenesis imperfecta with opalescent teeth; osteogenesis imperfecta, COL1A2-related; osteogenesis imperfecta, type 1, with dentinogenesis imperfecta; osteogenesis imperfecta, type 1A; osteogenesis imperfecta, type I, with dentinogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta ClinVar Annotator: match by term: Osteogenesis imperfecta type 1, mild
ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta
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