Cornelia de Lange syndrome 4

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Summary

Literature (0)

DOID:0080508 - Cornelia de Lange syndrome 4

Disease Ontology Definition:A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.

Synonyms: CDLS4, Cornelia De Lange syndrome 4 with or without midline brain defects,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rad21

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Cornelia de Lange syndrome (is_a), autosomal dominant disease (is_a)