| Metadata | |
|---|---|
| ID | DOID:0110339 |
| Name | osteogenesis imperfecta type 3 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/2794057, https://www.ncbi.nlm.nih.gov/pubmed/9099837 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
OI3 [EXACT] osteogenesis imperfecta type III [EXACT] progressively deforming osteogenesis imperfecta with normal sclera [EXACT] |
| Parent Relationships |