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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: (Mandibulofacial dysostosis) or (Franceschetti syndrome), Franceschetti syndrome, Mandibulofacial dysostosis, mandibulofacial dysostosis,
Xenbase Genes
:
polr1d.1,
polr1c,
polr1d.2,
tcof1
| MONDO:0002457 - Treacher-Collins syndrome |
Other Model Organisms: AGR, 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)