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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:sporadic breast cancer
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Accession:DOID:8029 term browser browse the term
Definition:A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer. (DO)
Synonyms:xref: NCI:C7566
For additional species annotation, visit the Alliance of Genome Resources.


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sporadic breast cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 no_association ISO DNA:hypermethylation:promoter
DNA:repeat:promoter		 RGD PMID:17932744 PMID:17904846 RGD:2290043, RGD:8552977 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Mlh1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, breast RGD PMID:12173039 RGD:2293522 NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:missense mutations:cds:g.677C>T, g.1298A>T (human) RGD PMID:28330681 RGD:38501055 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Phb1 prohibitin 1 ISO DNA:loss of heterozygosity, mutations: :multiple RGD PMID:1540973 RGD:2292408 NCBI chr10:81,102,043...81,114,815
Ensembl chr10:80,605,251...80,618,042 		JBrowse link
G Pten phosphatase and tensin homolog ISO DNA:hypermethylation:promoter: (human) RGD PMID:15287024 RGD:12859037 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      Neoplasms by Histologic Type 5345
        cell type cancer 3783
          carcinoma 3273
            breast carcinoma 300
              sporadic breast cancer 5
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              breast disease 1559
                Breast Neoplasms 1546
                  breast cancer 909
                    breast carcinoma 300
                      sporadic breast cancer 5
paths to the root