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: Male Breast Neoplasms
Accession: DOID:9000357
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Definition: Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.
Synonyms: exact_synonym: Male Breast Neoplasm; Male Breast Tumor; Male Breast Tumors
primary_id: MESH:D018567
alt_id: RDO:0007219
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Ar
androgen receptor
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1303262 PMID:8281139 PMID:14555518
RGD:1643345
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
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Brca2
BRCA2, DNA repair associated
susceptibility
ISO
DNA:mutation
RGD
PMID:18042939
RGD:2289043
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11967536
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
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Rad51b
RAD51 paralog B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23001122
NCBI chr 6:103,829,390...104,373,923
Ensembl chr 6:98,098,868...98,640,979
G
Tox3
TOX high mobility group box family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23001122
NCBI chr19:32,820,957...32,929,776
Ensembl chr19:16,648,342...16,757,148
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Breast cancer, male
ClinVar
PMID:9654203 PMID:10464631 PMID:17924331 PMID:21952622 PMID:21990134 PMID:22771033 PMID:24323938 PMID:25682074 PMID:25741868 PMID:26689913 PMID:28492532 PMID:29580235 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Chek2
checkpoint kinase 2
no_association susceptibility
ISO
DNA:deletion: :1100delC
RGD
PMID:17661168 PMID:11967536
RGD:2289705 , RGD:1599601
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNPs: :rs731236, rs7975232), rs10735810 (human)
RGD
PMID:22331715
RGD:8157630
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
G
Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Male breast carcinoma
ClinVar
PMID:9654203 PMID:10464631 PMID:17924331 PMID:21952622 PMID:21990134 PMID:22771033 PMID:24323938 PMID:25682074 PMID:25741868 PMID:26689913 PMID:28492532 PMID:29580235 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all