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Summary Literature (0)
DOID:2908 - Treacher Collins syndrome

Disease Ontology Definition:A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.

Synonyms: Franceschetti syndrome, mandibulofacial dysostosis, Mandibulofacial dysostosis, (Mandibulofacial dysostosis) or (Franceschetti syndrome)

Xenbase Genes : polr1d.1, polr1c, polr1d.2, tcof1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0002457 - Treacher-Collins syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)