Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Cornelia de Lange syndrome 1
Definitions	A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
ID	http://purl.obolibrary.org/obo/DOID_0080505
database_cross_reference	OMIM:122470
definition	A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0080505
label	Cornelia de Lange syndrome 1
notation	DOID:0080505
prefLabel	Cornelia de Lange syndrome 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_11725

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/122470	Online Mendelian Inheritance in Man	LOOM