Cornelia de Lange syndrome 3

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Summary

Literature (0)

DOID:0080507 - Cornelia de Lange syndrome 3

Disease Ontology Definition:A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.

Synonyms: CDLS3, Cornelia De Lange syndrome 3 with or without midline brain defects

Echinobase 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

: smc3

MIM:

MIM:610759 - cornelia de lange syndrome 3; cdls3

MIM:610759 - cornelia de lange syndrome 3; cdls3

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

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

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