Metadata | |
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ID | DOID:0112291 |
Name | autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type |
Definition | A 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. https://pubmed.ncbi.nlm.nih.gov/14755466/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |