spondylocostal dysostosis 6

Term ID

DOID:0112360

Synonyms

• autosomal recessive spondylocostal dysostosis 6
• SCDO6

Definition

A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. https://pubmed.ncbi.nlm.nih.gov/25343988/

References

• OMIM:616566

Ontology

Human Disease   ( DOID:0112360 )