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DOID:0111782 - otopalatodigital syndrome spectrum disorder
Disease Ontology 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.
Synonyms: OPD spectrum disorder, OPSD, fronto-otopalatodigital osteodysplasia,
Xenbase Genes
:
map3k7,
sh3pxd2b,
flna
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
bone development disease (is_a)