| Term Name: | spondylocostal dysostosis 5 |
|---|---|
| Synonyms: | SCDO5 |
| Definition: | A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. |
| Ontology: | Human Disease [DOID:0112363] ( DOID:0112363 ) |