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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 autosomal dominant disease is_a Cornelia de Lange syndrome
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance