breast-ovarian cancer, familial, susceptibility to, 1

breast-ovarian cancer, familial, susceptibility to, 1

http://purl.obolibrary.org/obo/MONDO_0011450

Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: breast-ovarian cancer, familial, susceptibility to, 1 hereditary breast ovarian cancer syndrome caused by mutation in BRCA1 breast-ovarian cancer, familial, susceptibility to, type 1 BRCA1 hereditary breast ovarian cancer syndrome breast-ovarian cancer, familial, 1, multifactorial

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Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

GARD:12351 (MONDO:GARD)
MEDGEN:382914 (MONDO:equivalentTo)
UMLS:C2676676 (MONDO:equivalentTo)
OMIM:604370 (MONDO:equivalentTo)

Subsets

gard_rare, rare, predisposition, nord_rare, clingen

abbreviation

BROVCA1 [ MONDO:Lexical https://omim.org/entry/604370 ]

ClinGen label

breast-ovarian cancer, familial, susceptibility to, 1 [ MONDO:Lexical https://omim.org/entry/604370 ]

exactMatch

http://linkedlifedata.com/resource/umls/id/C2676676

http://identifiers.org/medgen/382914

https://omim.org/entry/604370

excluded subClassOf

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

has related synonym

ovarian cancer, familial, susceptibility to, 1

BROVCA1

susceptibility to familial breast-ovarian cancer 1

breast cancer, familial, susceptibility to, 1

MONDO:0011450

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521

Term relations

Equivalent to:

inherited disease susceptibility and has material basis in germline mutation in some BRCA1 and predisposes towards some hereditary breast ovarian cancer syndrome

Subclass of: