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| Term | otopalatodigital syndrome spectrum disorder | ID (Ontology) | DOID:0111782 (Human Disease) |
| 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. | ||
| Also Known As | "fronto-otopalatodigital osteodysplasia" ; "OPD spectrum disorder" ; "OPSD" | ||
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bone disease |__bone development disease |__otopalatodigital syndrome spectrum disorder 5 rec. |__Frank-Ter Haar syndrome |__frontometaphyseal dysplasia 5 rec. | |__frontometaphyseal dysplasia 1 2 rec. | |__frontometaphyseal dysplasia 2 3 rec. |__Melnick-Needles syndrome 2 rec. |__otopalatodigital syndrome type 1 2 rec. |__otopalatodigital syndrome type 2 2 rec. |
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| Is a | bone development disease | ||
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| ORDO:364541 | |||