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DO Term : spondylometaphyseal dysplasia corner fracture type [DOID:0112297] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SMDCF,
  • OMIM:184255,
  • SNOMEDCT_US_2023_03_01:254078005,
  • MESH:C535793,
  • GARD:4991,
  • 184255,
  • ORDO:93315,
  • spondylometaphyseal dysplasia Sutcliffe type,
  • UMLS_CUI:C0432221
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