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| Term | spondylometaphyseal dysplasia corner fracture type | ID (Ontology) | DOID:0112297 (Human Disease) |
| 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. | ||
| Also Known As | "SMDCF" ; "spondylometaphyseal dysplasia Sutcliffe type" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease_____ osteochondrodysplasia | |__spondylometaphyseal dysplasia__| spondylometaphyseal dysplasia corner fracture type |
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| Is a |
autosomal dominant disease spondylometaphyseal dysplasia |
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GARD:4991 MESH:C535793 MIM:184255 ORDO:93315 SNOMEDCT_US_2023_03_01:254078005 UMLS_CUI:C0432221 |
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