Summary Literature (0)

DOID:11725 - Cornelia de Lange syndrome

Disease Ontology Definition:A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.

Synonyms: Brachmann de Lange syndrome, De Lange syndrome,

Echinobase Genes : smc3, smc1a, rad21


OMIM:

MIM:122470 - cornelia de lange syndrome 1; cdls1

MIM:300590 - cornelia de lange syndrome 2; cdls2

MIM:610759 - cornelia de lange syndrome 3; cdls3

MIM:614701 - cornelia de lange syndrome 4; cdls4

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

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