Term Name: spondylocostal dysostosis 1
Synonyms: autosomal recessive spondylocostal dysostosis 1, SCDO1
Definition: A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2.
Ontology: Human Disease [DOID:0112365]   ( DOID:0112365 )

Relationships
is a type of: autosomal recessive disease spondylocostal dysostosis