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Spondylocostal Dysostosis 6

Disease ID: disease_node_15614

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DbxrefMIM:616566
SubclassofDOID_0050737, DOID_0050568
Data SourceDOID
SynonymsSCDO6, autosomal recessive spondylocostal dysostosis 6
Doid Labelspondylocostal dysostosis 6
Doid DescriptionA spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15614
Doid IdDOID_0112360
LabelSpondylocostal Dysostosis 6