GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Spondylocostal Dysostosis  
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

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

 


Cross-references of Spondylocostal dysostosis OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations