Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Cornelia de Lange syndrome 3
Synonyms	CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects
Definitions	A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
ID	http://purl.obolibrary.org/obo/DOID_0080507
database_cross_reference	OMIM:610759
definition	A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
has exact synonym	CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0080507
label	Cornelia de Lange syndrome 3
notation	DOID:0080507
prefLabel	Cornelia de Lange syndrome 3
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_11725

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/610759	Online Mendelian Inheritance in Man	LOOM