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Metadata
ID	DOID:0111782
Name	otopalatodigital syndrome spectrum disorder
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. https://www.ncbi.nlm.nih.gov/pubmed/10706363, https://www.ncbi.nlm.nih.gov/pubmed/16926860, https://www.ncbi.nlm.nih.gov/pubmed/20301567
Xrefs	ORDO:364541
Subsets	DO_rare_slim
Synonyms	fronto-otopalatodigital osteodysplasia [EXACT] OPD spectrum disorder [EXACT] OPSD [EXACT]
Parent Relationships	is_a bone development disease