Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Disease Group: monogenic disease Genes: Brca1 (Mmu)

hereditary breast ovarian cancer syndrome

Disease
Source: DOID:5683
Definition: A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.
Genes: Brca1 (Mmu)

Fanconi anemia complementation group S

Disease
Source: DOID:0060979
Definition: A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21.
Genes: Brca1 (Mmu)