Disease: Spondyloepimetaphyseal Dysplasia, Irapa Type

Name Spondyloepimetaphyseal Dysplasia, Irapa Type

Synonyms -

Classification bone, developmental, genetic

Phenotypes Arthralgia; Autosomal recessive inheritance; Broad femoral neck; Broad foot; Broad palm; Capitate-hamate fusion; Coxa vara; Disproportionate short-trunk short stature; Enlargement of the costochondral junction; Genu valgum; Hypoplastic sacrum; Limited elbow extension; Lumbar hyperlordosis; Metaphyseal dysplasia; Osteoarthritis; Pectus carinatum; Platyspondyly; Short metacarpal; Short metatarsal; Short palm; Spondyloepimetaphyseal dysplasia; Upper limb undergrowth; Waddling gait

Associated Genes -

Mouse Orthologs -

Source OMIM:271650 (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

No mouse models associated with OMIM:271650 by orthology to a human gene.

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