Spondylocostal dysostosis 6, autosomal recessive

Definition

Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.

Also known as autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2, RIPPLY2 autosomal recessive spondylocostal dysostosis, spondylocostal dysostosis 6, autosomal recessive — per MONDO

Also identified as

• DOID 0112360 per MONDO
• OMIM 616566 per MONDO
• UMLS C4225279 per MONDO