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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:
Echinobase Genes :
MIM:154500 - treacher collins syndrome 1; tcs1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Treacher Collins syndrome (is_a)