| Term Name: | X-linked spondyloepimetaphyseal dysplasia |
|---|---|
| Synonyms: | SEMD X-linked, SEMDX |
| Definition: | A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. |
| Ontology: | Human Disease [DOID:0112150] ( DOID:0112150 ) |