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spondylocostal dysostosis

Disease Summary
Associated Targets (7)
Tbio

7


GARD Rare
Mondo Description Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0000359:  spondylocostal dysostosis
GARD:0006798: 
GARD:0010726: 
GARD:0012174: 
MESH:C537565: 
NCIT:C125598: 
OMIMPS:277300: 
UMLS:CN201467: