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Metadata
ID	DOID:0112363
Name	spondylocostal dysostosis 5
Definition	A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. https://pubmed.ncbi.nlm.nih.gov/23335591/, https://pubmed.ncbi.nlm.nih.gov/25564734/
Xrefs	MIM:122600
Synonyms	SCDO5 [EXACT]
Parent Relationships	is_a autosomal genetic disease is_a spondylocostal dysostosis