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MIRAGE
spondyloepiphyseal dysplasia congenita
Summary
- Synonym
-
- Late Spondyloepiphyseal Dysplasia
- Definition
- A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
- Super Class
- autosomal dominant disease spondyloepiphyseal dysplasia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02458 | Collagen alpha-1(II) chain |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28481 | Collagen alpha-1(II) chain | |
| Q9QUP5 | Hyaluronan and proteoglycan link protein 1 |
