Term Name: | spondylocostal dysostosis 6 |
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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 ) |