Metadata | |
---|---|
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 |
Xrefs | |
Parent Relationships |
is_a spinal disease |
Subclass Logical Relationships |
disease has location some vertebral column disease has location some limb has material basis in some X-linked recessive inheritance |