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spondylometaphyseal dysplasia corner fracture type
Summary
- Synonym
-
- SMDCF
- spondylometaphyseal dysplasia Sutcliffe type
- Definition
- A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35.
- Super Class
- autosomal dominant disease spondylometaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112297
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
