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Metadata
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/
Xrefs

MIM:609223

Parent Relationships

is_a spondyloepiphyseal dysplasia tarda

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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