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Autosomal Domit Spondyloepiphyseal Dysplasia Tarda

Disease ID: disease_node_15691

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DbxrefGARD:10624, MIM:184100
SubclassofDOID_0050736, DOID_0112284
Data SourceDOID
Doid Labelautosomal domit spondyloepiphyseal dysplasia tarda
Doid DescriptionA spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15691
Doid IdDOID_0112285
LabelAutosomal Domit Spondyloepiphyseal Dysplasia Tarda