Details of Disease | DrugMAP

General Information of Disease (ID: DISITM5J)

Disease Name	Spondylocostal dysostosis 6, autosomal recessive
Synonyms	spondylocostal dysostosis 6; SCDO6; spondylocostal dysostosis 6, autosomal recessive; autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2; RIPPLY2 autosomal recessive spondylocostal dysostosis
Definition	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.
Disease Hierarchy	DISAJI27: Autosomal recessive spondylocostal dysostosis DISITM5J: Spondylocostal dysostosis 6, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0014694 UMLS CUI C4225279 OMIM ID 616566 MedGen ID 899713

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RIPPLY2	OTDEEDLH	Strong	Autosomal recessive	[1]
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References

1	Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 Nov;167A(11):2795-9. doi: 10.1002/ajmg.a.37263. Epub 2015 Aug 4.