otopalatodigital syndrome type 1

Summary

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: OPD1, OPD I syndrome, OPD syndrome 1, oto-palato-digital syndrome type 1, otopalatodigital syndrome type I, Taybi syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: flna

MIM:

MIM:311300 - OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

MIM:311300 - OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): otopalatodigital syndrome spectrum disorder (is_a), X-linked dominant disease (is_a)