Cornelia de Lange syndrome 2 Disease Ontology Browser

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Cornelia de Lange syndrome 2 (DOID:0080506)
Alliance: disease page
Alt IDs: OMIM:300590
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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