Term Name: | spondylocostal dysostosis 2 |
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Synonyms: | autosomal recessive spondylocostal dysostosis 2, SCDO2 |
Definition: | A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. |
Ontology: | Human Disease [DOID:0112362] ( DOID:0112362 ) |