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hereditary breast ovarian cancer syndrome

Go to external page 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 ]

Synonyms: hereditary breast and ovarian cancer syndrome familial 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) Hereditary Breast and Ovarian Cancer Syndrome hereditary breast/ovarian cancer (BRCA1, BRCA2) familial breast/ovarian cancer (BRCA1, BRCA2)

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C8493 (MONDO:exact-label-match)
  • DOID:5683 (MONDO:equivalentTo)
  • Orphanet:145 (MONDO:equivalentTo)
  • ICD10CM:C50 (Orphanet:145/nd)
  • MEDGEN:151793 (MONDO:equivalentTo)
  • UMLS:C0677776 (MONDO:equivalentTo)
  • SCTID:718220008 (MONDO:equivalentTo)
  • GARD:15010 (MONDO:GARD)
  • icd11.foundation:1258896144 (https://orcid.org/0000-0002-4142-7153)
  • MESH:D061325 (MONDO:equivalentTo)
  • NORD:1936 (MONDO:NORD)
Subsets

gard_rare, ordo_disorder, otar, rare, predisposition, nord_rare, orphanet_rare

ClinGen label
hereditary breast ovarian cancer syndrome

exactMatch

http://www.orpha.net/ORDO/Orphanet_145

http://identifiers.org/mesh/D061325

http://purl.obolibrary.org/obo/DOID_5683

http://purl.obolibrary.org/obo/NCIT_C8493

http://identifiers.org/medgen/151793

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 related synonym

hereditary breast ovarian cancer

syndromes, HBOC

HBOC syndrome

syndrome, HBOC

HBOC syndromes

id

MONDO:0003582

term tracker item

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