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Treacher Collins syndrome
Summary
- Synonym
-
- Franceschetti syndrome
- mandibulofacial dysostosis
- Definition
- A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:2908
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13428 | Treacle protein |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O08784 | Treacle protein |
