spondylometaphyseal dysplasia corner fracture type Disease Ontology Browser

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Disease Ontology Browser

spondylometaphyseal dysplasia corner fracture type (DOID:0112297)
Alliance: disease page
Synonyms: SMDCF; spondylometaphyseal dysplasia Sutcliffe type
Alt IDs: OMIM:184255, MESH:C535793, ORDO:93315, UMLS_CUI:C0432221
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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