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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
