OBO ID: DOID:0050568
Term Name: spondylocostal dysostosis Search Ontology:
Synonyms:
  • Jarcho-Levin syndrome
  • spondylocostal dysostosis, autosomal recessive 3
  • spondylothoracic dysostosis
  • spondylothoracic dysplasia
Definition: A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (2)
References:
Ontology: Human Disease   (DOID:0050568)
OTHER spondylocostal dysostosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DLL3 Spondylocostal dysostosis 1, autosomal recessive 277300
HES7 Spondylocostal dysostosis 4, autosomal recessive 613686
LFNG Spondylocostal dysostosis 3, autosomal recessive 609813
MESP2 Spondylocostal dysostosis 2, autosomal recessive 608681
TBX6 Spondylocostal dysostosis 5 122600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None