| Disease Aliases (23) | Arsd Autosomal recessive spondylocostal dysostosis Costovertebral dysplasia Dll3-related spondylocostal dysostosis, autosomal recessive Jarcho-levin syndrome Scd Scdo Scdo1 Scdo1 spondylocostal dysostosis 1 Spondylothoracic dysostosis Spondylothoracic dysplasia Spondylocostal dysostosis 1, autosomal recessive Spondylocostal dysostosis 2, autosomal recessive Spondylocostal dysostosis 3, autosomal recessive Spondylocostal dysostosis 1 Spondylocostal dysostosis 1 autosomal recessive Spondylocostal dysplasia, recessive form Vertebral anomalies Spondylocostal dysostosis 1, autosomal recessive; scdo1 Spondylocostal dysostosis, autosomal recessive Spondylocostal dysostosis, autosomal recessive 3 Spondylocostal dysplasia |
Associated Genes (5) NCBI-RefSeq: HES7 (Hes family bHLH transcription factor 7) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RIPPLY2 (Ripply transcriptional repressor 2) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: DLL3 (Delta like canonical Notch ligand 3) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: MESP2 (Mesoderm posterior bHLH transcription factor 2) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Spondylocostal dysostosis | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |