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Summary Literature (0)
DOID:0112363 - spondylocostal dysostosis 5

Disease Ontology Definition:A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2.

Synonyms: SCDO5

Xenbase Genes : tbx6


MIM:
MIM:122600 - SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal genetic disease (is_a), spondylocostal dysostosis (is_a)