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X-linked spondyloepiphyseal dysplasia tarda
Summary
- Definition
- A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
- Super Class
- X-linked recessive disease spinal disease spondyloepiphyseal dysplasia tarda
External Links
- Disease Ontology
- DOID:0080362
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
