spondylocostal dysostosis 4

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Summary

Literature (0)

DOID:0112364 - spondylocostal dysostosis 4

Disease Ontology Definition:A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.

Synonyms: autosomal recessive spondylocostal dysostosis 4, SCDO4

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

: hes7.2, hes7.1

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

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

Parent(s): autosomal recessive disease (is_a), spondylocostal dysostosis (is_a)