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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

Synonyms

fronto-otopalatodigital osteodysplasia [EXACT]

OPD spectrum disorder [EXACT]

OPSD [EXACT]

Parent Relationships

is_a bone development disease

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