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spondylocostal dysostosis 5
Summary
- Synonym
-
- SCDO5
- Definition
- A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compund heterozygous mutation in the TBX6 gene on chromosome 16p11.2.
- Super Class
- autosomal genetic disease spondylocostal dysostosis
External Links
- Disease Ontology
- DOID:0112363
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
