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Disease Ontology Browser
Treacher Collins syndrome (DOID:2908)
Alliance: disease page
Synonyms: Franceschetti syndrome; mandibulofacial dysostosis
Alt IDs: ICD10CM:Q75.4, MESH:D008342, NCI:C75018, OMIM:PS154500, UMLS_CUI:C0242387
Definition: A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.

Disease References using Mouse Models (5)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory