Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Cornelia de Lange syndrome 2
Definitions	A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
ID	http://purl.obolibrary.org/obo/DOID_0080506
database_cross_reference	OMIM:300590
definition	A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000146
has_obo_namespace	disease_ontology
id	DOID:0080506
label	Cornelia de Lange syndrome 2
notation	DOID:0080506
prefLabel	Cornelia de Lange syndrome 2
subClassOf	http://purl.obolibrary.org/obo/DOID_0080009 http://purl.obolibrary.org/obo/DOID_11725

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/300590	Online Mendelian Inheritance in Man	LOOM