Table 1. Diseases associated with COL2A1 mutation .

Phenotype	MIM number
Epiphyseal dysplasia, multiple, with myopia and deafness	132450
Vitreoretinopathy with phalangeal epiphyseal dysplasia	619248
Achondrogenesis, type 2 or hypochondrogenesis	200610
Avascular necrosis of the femoral head	608805
Czech dysplasia	609162
Kniest dysplasia	156550
Legg-Calve-Perthes disease	150600
Osteoarthritis with mild chondrodysplasia	604864
Platyspondylic skeletal dysplasia, Torrance type	151210
Spondyloepiphyseal dysplasia congenita	183900
Spondyloepimetaphyseal dysplasia, Strudwick type	184250
Spondyloepiphyseal dysplasia, Stanescu type	616583
Spondyloperipheral dysplasia	271700
Stickler syndrome, type 1	108300
Stickler syndrome, type 1, non-syndromic ocular	609508

MIM: Mendelian inheritance in man