Search Ontology:
Human Disease
spondylocostal dysostosis 7
- Term ID
- DOID:0061255
- 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. https://pubmed.ncbi.nlm.nih.gov/41014130/
- References
- Ontology
- Human Disease ( DOID:0061255 )
Other Pages
Genes Involved
Zebrafish Models