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Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda Leroy-Spranger Type

Disease ID: disease_node_15690

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DbxrefMIM:609223
SubclassofDOID_0112284, DOID_0050737
Data SourceDOID
Doid Labelautosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
Doid DescriptionA spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15690
Doid IdDOID_0112291
LabelAutosomal Recessive Spondyloepiphyseal Dysplasia Tarda Leroy-Spranger Type