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campomelic dysplasia
Summary
- Synonym
-
- Acampomelic Campomelic Dysplasia
- Definition
- An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
- Super Class
- autosomal dominant disease osteochondrodysplasia
External Links
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
