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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:uterine fibroid
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Accession:DOID:13223 term browser browse the term
Definition:An uterine benign neoplasm derived from the smooth muscle layer of the uterus. (DO)
Synonyms:exact_synonym: UL;   leiomyoma of corpus uteri;   plexiform leiomyoma;   uterine fibroids;   uterine leiomyoma;   uterus fibroma
 primary_id: OMIM:150699
 xref: ICD10CM:D25;   ICD9CM:218;   NCI:C3434
For additional species annotation, visit the Alliance of Genome Resources.


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uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bet1l Bet1 golgi vesicular membrane trafficking protein-like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr 1:195,930,165...195,935,072
Ensembl chr 1:195,931,411...195,935,040
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
G Tsc2 TSC complex subunit 2 ISS OMIM:150699 MouseDO NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
subserous uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
uterus interstitial leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of cellular proliferation 7034
      Neoplasms by Histologic Type 4765
        cell type benign neoplasm 1749
          leiomyoma 65
            uterine fibroid 8
              submucous uterine fibroid 0
              subserous uterine fibroid 1
              uterine corpus dissecting leiomyoma 0
              uterine corpus epithelioid leiomyoma 0
              uterine corpus lipoleiomyoma 0
              uterine corpus myxoid leiomyoma 0
              uterus interstitial leiomyoma 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      connective tissue benign neoplasm 29
                        fibroma 19
                          uterine fibroid 8
                            submucous uterine fibroid 0
                            subserous uterine fibroid 1
                            uterine corpus dissecting leiomyoma 0
                            uterine corpus epithelioid leiomyoma 0
                            uterine corpus lipoleiomyoma 0
                            uterine corpus myxoid leiomyoma 0
                            uterus interstitial leiomyoma 1
paths to the root