Disease: Spondylometaphyseal Dysplasia, Corner Fracture Type

Name Spondylometaphyseal Dysplasia, Corner Fracture Type


Classification bone, developmental, genetic

Phenotypes Autosomal dominant inheritance; Coxa vara; Genu varum; Hyperconvex vertebral body endplates; Hypoplasia of the odontoid process; Metaphyseal irregularity; Ovoid vertebral bodies; Pectus carinatum; Scoliosis; Short femoral neck; Short stature; Spondylometaphyseal dysplasia; Waddling gait

Associated Genes FN1 (Withdrawn symbols: CIG, FINC, GFND2, LETS, MSF )

Mouse Orthologs Fn1 (Withdrawn symbols: Fn-1 )

Source OMIM:184255 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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