spondylocostal dysostosis 5 Disease Ontology Browser

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spondylocostal dysostosis 5 (DOID:0112363)
Alliance: disease page
Synonyms: SCDO5
Alt IDs: OMIM:122600
Definition: A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compund heterozygous mutation in the TBX6 gene on chromosome 16p11.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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