Metadata | |
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ID | DOID:0080506 |
Name | Cornelia de Lange syndrome 2 |
Definition | A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. https://www.ncbi.nlm.nih.gov/pubmed/22106055 |
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