| Term Name: | spondylocostal dysostosis 7 |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0061255] ( DOID:0061255 ) |