COL2A1

Synonym(s): SEDC

Locus: 12q12-q13.2

Protein: Collagen alpha-1(II) chain

Disorder(s):

• Spondyloepiphyseal Dysplasia Congenita
• Achondrogenesis Type 2
• COL2A1-Related Stickler Syndrome
• Avascular Necrosis of Femoral Head, Primary
• Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
• Spondyloperipheral Dysplasia
• Osteoarthritis with Mild Chondrodysplasia
• Spondyloepimetaphyseal Dysplasia, Strudwick Type
• Kniest Dysplasia
• Type II Collagenopathies
• Spondyloepiphyseal Dysplasia
• COL2A1-Associated Stickler Syndrome