PedAM
Pediatric Disease Annotations & Medicines
| Disease | skeletal dysplasia |
| Phenotype | C0009782|connective tissue disorder |
| Sentences | 1 |
| PubMedID- 22589248 | Osteogenesis imperfecta (oi) is an inherited connective tissue disorder with skeletal dysplasia of varying severity, predominantly caused by mutations in the collagen i genes (col1a1/col1a2). |
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