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otopalatodigital syndrome type 1
Summary
- Synonym
-
- OPD I syndrome
- OPD syndrome 1
- OPD1
- Taybi syndrome
- oto-palato-digital syndrome type 1
- otopalatodigital syndrome type I
- 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.
- Super Class
- X-linked dominant disease otopalatodigital syndrome spectrum disorder
External Links
- Disease Ontology
- DOID:0111783
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
