Spondylocostal Dysostosis 5 (SCDO5)

Spondylocostal Dysostosis 5(来自ICD-11)
别称:
Spondylothoracic Dysostosis
Scdo5
Scoliosis, Congenital, with or Without Rib Anomalies
Costovertebral Segmentation Anomalies
Spondylocostal Dysplasia
Jarcho-Levin Syndrome
Tacs
Dysostosis, Spondylocostal, Autosomal Recessive, Type 5
Spondylocostal Dysostosis 4, Autosomal Dominant
Autosomal Dominant Spondylocostal Dysostosis
Autosomal Dominant Spondylocostal Dysplasia
Std
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Spondylocostal Dysostosis 5, also known as spondylothoracic dysostosis, is related to spondylocostal dysostosis 3, autosomal recessive and spondylocostal dysostosis, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 5 is TBX6 (T-Box Transcription Factor 6), and among its related pathways/superpathways are Gastrulation and 16p11.2 proximal deletion syndrome. The drugs Triamcinolone and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are scoliosis and intrauterine growth retardation
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