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Spondylocostal Dysostosis 2

Disease ID: disease_node_15612

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DbxrefGARD:6798, MIM:608681
SubclassofDOID_0050737, DOID_0050568
Data SourceDOID
SynonymsSCDO2, autosomal recessive spondylocostal dysostosis 2
Doid Labelspondylocostal dysostosis 2
Doid DescriptionA spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15612
Doid IdDOID_0112362
LabelSpondylocostal Dysostosis 2