Breast-ovarian cancer, familial, susceptibility to, 1

Preferred Label : Breast-ovarian cancer, familial, susceptibility to, 1;

Symbol : BROVCA1;

CISMeF acronym : BROVCA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HBOC1;

Included titles and symbols : Breast cancer, familial, susceptibility to, 1; Ovarian cancer, familial, susceptibility to, 1;

Inheritance : Autosomal dominant; Multifactorial;

Molecular basis : Susceptibility conferred by mutation in the breast cancer 1 gene (BRCA1, 113705.0001);

Neoplasia : Breast cancer; Ovarian cancer;

Prefixed ID : #604370;

Details

Origin ID

604370;

UMLS CUI

C2676676;

Broader ORDO disease(s)
- Hereditary breast and ovarian cancer syndrome [ORDO Disease]
Genes related to phenotype
- Brca1 dna repair-associated protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Breast carcinoma [HPO term]
- Multifactorial inheritance [HPO term]
- Ovarian neoplasm [HPO term]
ORDO concept(s)
- Hereditary breast and ovarian cancer syndrome [ORDO Disease]
- Hereditary breast cancer [ORDO Disease]
See also inter- (CISMeF)
- BRCA1 wt Allele [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Hereditary breast and ovarian cancer syndrome [ORDO Disease]
- Hereditary breast cancer [ORDO Disease]

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