Search Ontology:
Human Disease
spondylocostal dysostosis 5
- Term ID
- DOID:0112363
- Synonyms
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- SCDO5
- Definition
- A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. (2)
- References
- Ontology
- Human Disease ( DOID:0112363 )
- is a type of
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Genes Involved
Zebrafish Models