otopalatodigital syndrome type 1

Term ID

DOID:0111783

Synonyms

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

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. (2)

References

• GARD:5121
• MESH:C536065
• NCI:C118845
• OMIM:311300
• ORDO:90650
• SNOMEDCT_US_2023_03_01:54036001
• UMLS_CUI:C0265251

Ontology

Human Disease   ( DOID:0111783 )