Disease Term Disease ID Gene Symbol References
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 C1837549 LFNG
DLL3
HES7
RIPPLY2
MESP2 18485326, 15122512
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 C1853296 LFNG 27604308, 16385447
DLL3
HES7
RIPPLY2
MESP2
SPONDYLOCOSTAL DYSOSTOSIS 5 C4083048 TBX6 23335591, 25564734
HES7
Autosomal dominant spondylocostal dysostosis C4274761, 1797 TBX6 23335591
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE C3150942 HES7 18775957, 20087400
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE C4225279 RIPPLY2 25343988
Autosomal recessive spondylocostal dysostosis 2311 DLL3
MESP2
LFNG
HES7
RIPPLY2