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X-linked spondyloepimetaphyseal dysplasia
Summary
- Synonym
-
- SEMD X-linked
- SEMDX
- Definition
- A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
- Super Class
- X-linked recessive disease spondyloepimetaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112150
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
