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Human Disease

spondylocostal dysostosis 5

Term ID
DOID:0112363
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. (2)
References
Ontology
Human Disease   ( DOID:0112363 )
Relationships
is a type of
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Genes Involved
Zebrafish Models