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Summary Literature (0)
DOID:0080789 - Treacher Collins syndrome 1


Disease Ontology Definition:A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.

Synonyms:

Xenbase Genes : tcof1



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Treacher Collins syndrome (is_a)