Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive fo...[+]

Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. [-]

             spondyloepiphyseal dysplasia Stanescu type
             spondyloperipheral dysplasia
             Stickler syndrome 1
             multiple epiphyseal dysplasia with myopia and deafness
             spondyloepiphyseal dysplasia congenita
             Legg-Calve-Perthes disease
             achondrogenesis type II
             Stickler syndrome
             Kniest dysplasia
             hypochondrogenesis
             spondyloepimetaphyseal dysplasia, Strudwick type
             otospondylomegaepiphyseal dysplasia, autosomal recessive

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD