X-linked spondyloepiphyseal dysplasia tarda

Term ID

DOID:0080362

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. https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda

References

• MIM:313400

Ontology

Human Disease   ( DOID:0080362 )