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Metadata
ID	DOID:0112365
Name	spondylocostal dysostosis 1
Definition	A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/10742114/
Xrefs	MIM:277300
Synonyms	autosomal recessive spondylocostal dysostosis 1 [EXACT] SCDO1 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a spondylocostal dysostosis