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DOID:0111783 - otopalatodigital syndrome type 1
Disease Ontology Definition:An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
Synonyms: OPD I syndrome, OPD syndrome 1, OPD1, Taybi syndrome, oto-palato-digital syndrome type 1, otopalatodigital syndrome type I,
Xenbase Genes : flna
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee