Term Name: | X-linked spondyloepiphyseal dysplasia tarda |
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Synonyms: | |
Definition: | A 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. |
Ontology: | Human Disease [DOID:0080362] ( DOID:0080362 ) |