Metadata | |
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ID | DOID:0080362 |
Name | X-linked spondyloepiphyseal dysplasia tarda |
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. https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda |
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Parent Relationships |
is_a spondyloepiphyseal dysplasia tarda is_a X-linked recessive disease is_a spinal disease |