| Metadata | |
|---|---|
| ID | DOID:0111783 |
| Name | otopalatodigital syndrome type 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12612583, https://www.ncbi.nlm.nih.gov/pubmed/20301567 |
| Xrefs |
SNOMEDCT_US_2023_03_01:54036001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
OPD I syndrome [EXACT] OPD syndrome 1 [EXACT] OPD1 [EXACT] oto-palato-digital syndrome type 1 [EXACT] otopalatodigital syndrome type I [EXACT] Taybi syndrome [EXACT] |
| Parent Relationships |