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: Fibroepithelial Neoplasms
Accession: DOID:9007017
browse the term
Definition: Neoplasms composed of fibrous and epithelial tissue. The concept does not refer to neoplasms located in fibrous tissue or epithelium.
Synonyms: exact_synonym: Fibroepithelial Neoplasm
primary_id: MESH:D018225
xref: EFO:0007271
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Wnt7b
Wnt family member 7B
ISO
RGD
PMID:8168088
RGD:2291878
NCBI chr 7:118,514,684...118,559,316
Ensembl chr 7:116,634,814...116,679,581
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Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:breast
RGD
PMID:17254320
RGD:2293756
NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930
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Med12
mediator complex subunit 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25038752 PMID:26437033
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
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Rara
retinoic acid receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr10:84,379,780...84,424,371
Ensembl chr10:83,893,384...83,928,142
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Wnt2
Wnt family member 2
ISO
mRNA:increased expression:breast
RGD
PMID:8168088
RGD:2291878
NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:46,333,998...46,374,402
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Wnt4
Wnt family member 4
ISO
breast fibroadenoma
RGD
PMID:8168088
RGD:2291878
NCBI chr 5:154,797,245...154,818,565
Ensembl chr 5:149,514,018...149,532,859
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Prlr
prolactin receptor
ISO
ClinVar Annotator: match by term: Multiple fibroadenomas of the breast
OMIM ClinVar
PMID:18779591
NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
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