Mondo Disease Ontology

Last uploaded: April 2, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0012933 http://purl.obolibrary.org/obo/MONDO_0012933
Preferred Name	breast-ovarian cancer, familial, susceptibility to, 2
Definitions	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.
Synonyms	ovarian cancer, familial, susceptibility to, 2 breast cancer, familial, susceptibility to, 2 susceptibility to familial breast-ovarian cancer 2 BROVCA2 BRCA2 hereditary breast ovarian cancer syndrome breast-ovarian cancer, familial, 2 breast-ovarian cancer, familial, susceptibility to, 2 breast-ovarian cancer, familial, susceptibility to, type 2 hereditary breast ovarian cancer syndrome caused by mutation in BRCA2
Type	http://www.w3.org/2002/07/owl#Class

definition	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.
label	breast-ovarian cancer, familial, susceptibility to, 2
prefLabel	breast-ovarian cancer, familial, susceptibility to, 2
database_cross_reference	OMIM:612555 UMLS:C2675520 MEDGEN:382625
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
notation	MONDO:0012933
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#predisposition
has_related_synonym	ovarian cancer, familial, susceptibility to, 2 breast cancer, familial, susceptibility to, 2 susceptibility to familial breast-ovarian cancer 2 BROVCA2
id	MONDO:0012933
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0003582
skos_exactMatch	https://omim.org/entry/612555 http://identifiers.org/medgen/382625 http://linkedlifedata.com/resource/umls/id/C2675520
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100526
curated content resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0012933
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	BRCA2 hereditary breast ovarian cancer syndrome breast-ovarian cancer, familial, 2 breast-ovarian cancer, familial, susceptibility to, 2 breast-ovarian cancer, familial, susceptibility to, type 2 hereditary breast ovarian cancer syndrome caused by mutation in BRCA2
treeView	http://purl.obolibrary.org/obo/MONDO_0100526

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