OBO ID: DOID:0112297
Term Name: spondylometaphyseal dysplasia corner fracture type Search Ontology:
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 )
OTHER spondylometaphyseal dysplasia corner fracture type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FN1 Spondylometaphyseal dysplasia, corner fracture type 184255
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None