disease has location spondylocostal dysostosis https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/spondylocostal_dysostosis Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. NCIT:C125598 MESH:C537565 Jarcho-Levin syndrome NORD:1308 DOID:0050568 spondylocostal dysostosis UMLS:C0265343 SCD MONDO:0000359 spondylocostal dysplasia Spondylocostal Dysplasia GARD:0012174 Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital). SCDO costovertebral dysplasia OMIMPS:277300 MEDGEN:82707 vertebral column disorder hereditary disease dysostosis rib