Term Name: | spondylocostal dysostosis 1 |
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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 ) |