spondylocostal dysostosis 1

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Summary

Literature (0)

DOID:0112365 - spondylocostal dysostosis 1

Disease Ontology Definition:A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2.

Synonyms: autosomal recessive spondylocostal dysostosis 1, SCDO1

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

: mesp2

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)