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

Xenbase Genes : hes7.2, lfng, hes7, ripply2, tbx6, mesp2, ripply2.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000359 - spondylocostal dysostosis

MIM:

MIM:122600 - SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5

MIM:277300 - SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1

MIM:608681 - SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2

MIM:609813 - SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

MIM:613686 - SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee