spondylocostal dysostosis 2

Term ID

DOID:0112362

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. https://pubmed.ncbi.nlm.nih.gov/15122512/

References

• GARD:6798
• MIM:608681

Ontology

Human Disease   ( DOID:0112362 )