Disease: Spondyloepiphyseal Dysplasia, Kimberley Type

Name Spondyloepiphyseal Dysplasia, Kimberley Type

Synonyms -

Classification bone, developmental, genetic

Phenotypes Autosomal dominant inheritance; Delayed skeletal maturation; Flat capital femoral epiphysis; Genu valgum; Genu varum; Platyspondyly; Proportionate short stature; Spondyloepiphyseal dysplasia

Associated Genes ACAN (Withdrawn symbols: AGC1, CSPG1, CSPGCP, MSK16 )

Mouse Orthologs Acan (Withdrawn symbols: Agc1, b2b183Clo, cmd )

Source OMIM:608361 (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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