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Summary Literature (0)
DOID:0112297 - spondylometaphyseal dysplasia corner fracture type


Disease Ontology 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.

Synonyms: SMDCF, spondylometaphyseal dysplasia Sutcliffe type

Xenbase Genes : fn1


OMIM:
OMIM:184255 - SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), spondylometaphyseal dysplasia (is_a)