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Metadata
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
Xrefs

MIM:122470

Parent Relationships

is_a Cornelia de Lange syndrome

is_a autosomal dominant disease

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