Spondylocostal dysostosis 5

Definition

Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.

Also known as costovertebral segmentation anomalies, SCDO5, scoliosis, congenital, with or without rib anomalies, spondylocostal dysostosis 5, spondylocostal dysostosis caused by mutation in TBX6, spondylocostal dysostosis type 5, spondylothoracic dysostosis, TBX6 spondylocostal dysostosis — per MONDO

Also identified as

• DOID 0112363 per MONDO
• OMIM 122600 per MONDO
• UMLS C4083048 per MONDO