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Summary Literature (0)
DOID:11725 - Cornelia de Lange syndrome


Disease Ontology Definition:A syndrome 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

In OMIM:
OMIM:122470 - CORNELIA DE LANGE SYNDROME 1; CDLS1
OMIM:300590 - CORNELIA DE LANGE SYNDROME 2; CDLS2
OMIM:610759 - CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS3
OMIM:614701 - CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS4

In Mondo Disease Ontology:
MONDO:0016033 - Cornelia de Lange syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : nipbl, smc3, smc1a, rad21, setd5, hdac8

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): genetic disease (is_a), monogenic disease (is_a), syndrome (is_a)