Term Name: spondylocostal dysostosis 6
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.
Ontology: Human Disease [DOID:0112360]   ( DOID:0112360 )

Relationships
is a type of: autosomal recessive disease spondylocostal dysostosis