Search Ontology:
Human Disease

spondylometaphyseal dysplasia corner fracture type

Term ID
DOID:0112297
Synonyms
  • 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. (2)
References
Ontology
Human Disease   ( DOID:0112297 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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