spondylocostal dysostosis 5

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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 compund heterozygous mutation in the TBX6 gene on chromosome 16p11.2.

Synonyms: SCDO5,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tbx6

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)