JSON

hereditary breast ovarian cancer syndrome

^ http://purl.obolibrary.org/obo/MONDO_0003582

An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. [ NCIT:C8493 ]

Term info

database cross reference
  • SCTID:718220008 (MONDO:equivalentTo)
  • UMLS:C0677776 (Orphanet:145/e)
  • MESH:D061325 (MONDO:equivalentTo)
  • OMIMPS:604370 (MONDO:equivalentTo)
  • GARD:0012351 (MONDO:equivalentTo)
  • DOID:5683 (MONDO:equivalentTo)
  • ICD10CM:C50 (Orphanet:145/nd)
  • GARD:0012352 (MONDO:equivalentTo)
  • Orphanet:145 (MONDO:equivalentTo)
  • NCIT:C8493 (MONDO:exact-label-match)
Subsets

ordo_disease, predisposition, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/84

definition

An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.

exactMatch

https://omim.org/phenotypicSeries/PS604370, http://purl.obolibrary.org/obo/Orphanet_145, http://identifiers.org/mesh/D061325, http://purl.obolibrary.org/obo/DOID_5683, http://purl.obolibrary.org/obo/NCIT_C8493, http://identifiers.org/snomedct/718220008, http://linkedlifedata.com/resource/umls/id/C0677776

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016419, http://purl.obolibrary.org/obo/MONDO_0016248, http://purl.obolibrary.org/obo/MONDO_0015870

has exact synonym

familial breast and ovarian cancer syndrome, hereditary breast and ovarian cancer syndrome, hereditary breast ovarian cancer syndrome, hereditary breast and ovarian cancer, BRCA1- and BRCA2-associated hereditary breast and ovarian cancer, BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC), breast-ovarian cancer, familial, susceptibility to, hereditary breast/ovarian cancer (BRCA1, BRCA2), familial breast/ovarian cancer (BRCA1, BRCA2)

has related synonym

hereditary breast ovarian cancer, syndromes, HBOC, HBOC syndrome, syndrome, HBOC, HBOC syndromes

id

MONDO:0003582