Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	aortic valve disease 2
Definitions	A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
ID	http://purl.obolibrary.org/obo/DOID_0080334
database_cross_reference	OMIM:614823
definition	A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0080334
label	aortic valve disease 2
notation	DOID:0080334
prefLabel	aortic valve disease 2
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0080332

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/614823	Online Mendelian Inheritance in Man	LOOM