breast-ovarian cancer, familial, susceptibility to, 2
Go to external page http://purl.obolibrary.org/obo/MONDO_0012933
Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: breast-ovarian cancer, familial, susceptibility to, 2 breast-ovarian cancer, familial, 2 hereditary breast ovarian cancer syndrome caused by mutation in BRCA2 BRCA2 hereditary breast ovarian cancer syndrome breast-ovarian cancer, familial, susceptibility to, type 2
Term information
- UMLS:C2675520 (MONDO:equivalentTo)
- MEDGEN:382625 (MONDO:equivalentTo)
- OMIM:612555 (MONDO:equivalentTo)
predisposition, clingen
http://identifiers.org/medgen/382625
https://omim.org/entry/612555
http://linkedlifedata.com/resource/umls/id/C2675520
ovarian cancer, familial, susceptibility to, 2
breast cancer, familial, susceptibility to, 2
BROVCA2
susceptibility to familial breast-ovarian cancer 2
Term relations
- inherited disease susceptibility and has material basis in germline mutation in some BRCA2 and predisposes towards some hereditary breast ovarian cancer syndrome