DO_rare_slim NCIthesaurus has material basis in X-linked dominant disease otopalatodigital syndrome spectrum disorder otopalatodigital syndrome type 1 NCI:C118845 disease_ontology SNOMEDCT_US_2025_09_01:54036001 MESH:C536065 ORDO:90650 GARD:5121 UMLS_CUI:C0265251 DOID:0111783 MIM:311300 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. OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I X-linked dominant inheritance