Cornelia de Lange syndrome

Summary

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

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

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0016033 - Cornelia de Lange syndrome

MONDO:0016033 - Cornelia de Lange syndrome

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

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

Parent(s): genetic disease (is_a), monogenic disease (is_a), syndrome (is_a)