Table 1.
Phenotypes related to mutations in COL2A1 (OMIM +120140) [28]
| Phenotype | Phenotype number | Inheritance |
|---|---|---|
| Achondrogenesis, type II or hypochondrogenesis | 200610 | AD |
| Avascular necrosis of the femoral head | 608805 | AD |
| Czech dysplasia | 609162 | AD |
| Epiphyseal dysplasia, multiple, with myopia and deafness | 132450 | AD |
| Kniest dysplasia | 156550 | AD |
| Legg-Calve-Perthes disease | 150600 | AD |
| Osteoarthritis with mild chondrodysplasia | 604864 | AD |
| Platyspondylic skeletal dysplasia, Torrance type | 151210 | AD |
| SED congenita | 183900 | AD |
| SEMD Strudwick type | 184250 | AD |
| Spondyloepiphyseal dysplasia, Stanescu type | 616583 | AD |
| Spondyloperipheral dysplasia | 271700 | AD |
| Stickler syndrome, type I, nonsyndromic ocular | 609508 | AD |
| Stickler syndrome, type I | 108300 | AD |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia |