spondylocostal dysostosis 7 Disease Ontology Browser

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spondylocostal dysostosis 7 (DOID:0061255)
Alliance: disease page
Alt IDs: OMIM:621523
Definition: A spondylocostal dysostosis characterized by severe rib and vertebral malformations, which may result in lethal respiratory compromise that has_material_basis_in homozygous mutation in the DMRT2 gene on chromosome 9p24.

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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