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Metadata
ID DOID:0060970
Name Cornelia de Lange syndrome 6
Definition A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.
https://pubmed.ncbi.nlm.nih.gov/16604071/
Xrefs

MIM:620568

Parent Relationships

is_a autosomal dominant disease

is_a Cornelia de Lange syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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