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Summary Literature (0)
DOID:0050568 - spondylocostal dysostosis


Disease Ontology Definition:A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.

Synonyms: Jarcho-Levin syndrome, spondylocostal dysostosis, autosomal recessive 3 , spondylothoracic dysostosis, spondylothoracic dysplasia

In OMIM:
OMIM:122600 - SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5
OMIM:277300 - SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1
OMIM:608681 - SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
OMIM:609813 - SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3
OMIM:613686 - SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4

In Mondo Disease Ontology:
MONDO:0000359 - spondylocostal dysostosis

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hes7.2, lfng, hes7.1, tbx6, mesp2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): dysostosis (is_a), spinal disease (is_a)