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DOID:0080289 - orofaciodigital syndrome XVII
Disease Ontology Definition:An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.
Synonyms:
Xenbase Genes : intu
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee