Disease: Spondylocostal Dysostosis 5

Name Spondylocostal Dysostosis 5

Synonyms COSTOVERTEBRAL SEGMENTATION ANOMALIES , SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES , SPONDYLOCOSTAL DYSPLASIA , SPONDYLOTHORACIC DYSOSTOSIS , TACS

Classification bone, developmental, genetic

Phenotypes Autosomal dominant inheritance; Autosomal recessive inheritance; Butterfly vertebrae; Disproportionate short-trunk short stature; Hemivertebrae; Low back pain; Missing ribs; Pectus carinatum; Posterior rib fusion; Scoliosis; Severe short stature; Short neck; Supernumerary ribs; Syringomyelia; Vertebral fusion

Associated Genes TBX6

Mouse Orthologs Tbx6 (Withdrawn symbols: rv )

Source OMIM:122600 (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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