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Spondylocostal Dysostosis 4

Disease ID: disease_node_15611

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DbxrefMIM:613686
SubclassofDOID_0050737, DOID_0050568
Data SourceDOID
SynonymsSCDO4, autosomal recessive spondylocostal dysostosis 4
Doid Labelspondylocostal dysostosis 4
Doid DescriptionA spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15611
Doid IdDOID_0112364
LabelSpondylocostal Dysostosis 4