COL1-Related Connective Tissue Disorder

**Semantic type:** Disease or Syndrome

**Definition:** A term that refers to a group of hereditary connective tissue disorders caused by mutations in type I procollagen genes (COL1A1 and COL1A2 genes). This category includes osteogenesis imperfecta, specific types of Ehlers-Danlos syndrome, and COL1-related overlapping disorder.