Metadata | |
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ID | DOID:0080505 |
Name | Cornelia de Lange syndrome 1 |
Definition | A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. https://www.ncbi.nlm.nih.gov/pubmed/20583156 |
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