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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,
Echinobase Genes
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| MIM:154500 - treacher collins syndrome 1; tcs1 |
| MIM:248390 - treacher collins syndrome 3; tcs3 |
| MIM:613717 - treacher collins syndrome 2; tcs2 |
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)