Spondylocostal dysostosis 4, autosomal recessive

Definition

Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.

Also known as autosomal recessive spondylocostal dysostosis caused by mutation in HES7, HES7 autosomal recessive spondylocostal dysostosis, spondylocostal dysostosis 4, autosomal recessive — per MONDO

Also identified as

• DOID 0112364 per MONDO
• OMIM 613686 per MONDO
• UMLS C3150942 per MONDO