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Human Disease

otopalatodigital syndrome spectrum disorder

Term ID
DOID:0111782
Synonyms
  • fronto-otopalatodigital osteodysplasia
  • OPD spectrum disorder
  • OPSD
Definition
A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (3)
References
  • ORDO:364541
Ontology
Human Disease   ( DOID:0111782 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models