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Summary Literature (0)
DOID:0080506 - Cornelia de Lange syndrome 2

Disease Ontology 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.

Synonyms:

Xenbase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Cornelia de Lange syndrome (is_a)