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Metadata
ID DOID:0080509
Name Cornelia de Lange syndrome 5
Definition A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.
https://www.ncbi.nlm.nih.gov/pubmed/22889856
Xrefs

OMIM:300882

Parent Relationships

is_a Cornelia de Lange syndrome

is_a X-linked dominant disease

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