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Metadata
ID DOID:0080506
Name Cornelia de Lange syndrome 2
Definition A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
https://www.ncbi.nlm.nih.gov/pubmed/22106055
Xrefs

OMIM:300590

Parent Relationships

is_a Cornelia de Lange syndrome

is_a X-linked dominant disease

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