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X-Linked Spondyloepiphyseal Dysplasia Tarda

Disease ID: disease_node_15692

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DbxrefMIM:313400
SubclassofDOID_0080012, DOID_0112284, DOID_0060564
Data SourceDOID
Disease Has LocationUBERON_0002101, UBERON_0001130
Doid LabelX-linked spondyloepiphyseal dysplasia tarda
Doid DescriptionA spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
Has Material Basis InGENO_0000149
Disease Node Iddisease_node_15692
Doid IdDOID_0080362
LabelX-Linked Spondyloepiphyseal Dysplasia Tarda