Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Dysplasia of the proximal femoral epiphyses | MONDO:1030002 | 3 | |
| Stickler syndrome type 1 | MONDO:0007160 | 1 | |
| Kniest dysplasia | MONDO:0007987 | COL2A1 | |
| Achondrogenesis type II | MONDO:0008702 | COL2A1 | |
| Hypochondrogenesis | MONDO:0019669 | ||
| Multiple epiphyseal dysplasia, Beighton type | MONDO:0007562 | COL2A1 | |
| Platyspondylic dysplasia, Torrance type | MONDO:0007895 | COL2A1 | |
| Spondyloepimetaphyseal dysplasia, Strudwick type | MONDO:0008476 | COL2A1 | |
| Spondyloepiphyseal dysplasia congenita | MONDO:0008471 | ||
| Spondyloepiphyseal dysplasia with metatarsal shortening | MONDO:0012206 | ||
| Spondyloepiphyseal dysplasia, Stanescu type | MONDO:0014701 | ||
| Spondylometaphyseal dysplasia, 'corner fracture' type | MONDO:0008479 | FN1 | |
| Spondylometaphyseal dysplasia, Schmidt type | MONDO:0008478 | COL2A1 | |
| Spondyloperipheral dysplasia | MONDO:0010078 |
Rare disease
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