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COL2A1-related spondyloepiphyseal dysplasia

rare

Any 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.

Identifiers
MONDO:0100602
Causal genes
COL2A1
Part of
Spondyloepimetaphyseal dysplasiaSpondyloepiphyseal dysplasia

Subtypes

All diseases Rare only
Disease Subtypes
Stickler syndrome type 1 1
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

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