spondylocostal dysostosis 1

Term ID

DOID:0112365

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. https://pubmed.ncbi.nlm.nih.gov/10742114/

References

• MIM:277300

Ontology

Human Disease   ( DOID:0112365 )