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Smith-McCort dysplasia
Summary
- Definition
- A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.
- Super Class
- Dyggve-Melchior-Clausen disease
External Links
- Disease Ontology
- DOID:0060247
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P13611 | Versican core protein | |
| P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN | |
| Q9UEF7 | Klotho |
