COL2A1-related spondyloepiphyseal dysplasia

Findings

No curated finding names COL2A1-related spondyloepiphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• spondyloepimetaphyseal dysplasia
• spondyloepiphyseal dysplasia

Narrower terms (6)

• mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
• spondyloepiphyseal dysplasia congenita
• spondyloepiphyseal dysplasia with metatarsal shortening
• spondyloepiphyseal dysplasia, Stanescu type
• spondyloperipheral dysplasia
• Stickler syndrome type 1