COL2A1-related spondyloepiphyseal dysplasia
MONDO:0100602Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes.
38 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Stickler syndrome type 1
(3)
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
(0)
Spondyloepiphyseal dysplasia congenita
(0)
Spondyloepiphyseal dysplasia, Stanescu type
(0)
Spondyloepiphyseal dysplasia with metatarsal shortening
(0)
Spondyloperipheral dysplasia
(0)
Stickler syndrome, type I, nonsyndromic ocular
(0)