Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111783 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.