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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:gestational trophoblastic neoplasm
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Accession:DOID:3590 term browser browse the term
Definition:A group of diseases arising from pregnancy that are commonly associated with hyperplasia of trophoblasts (TROPHOBLAST) and markedly elevated human CHORIONIC GONADOTROPIN. They include HYDATIDIFORM MOLE, invasive mole (HYDATIDIFORM MOLE, INVASIVE), placental-site trophoblastic tumor (TROPHOBLASTIC TUMOR, PLACENTAL SITE), and CHORIOCARCINOMA. These neoplasms have varying propensities for invasion and spread.
Synonyms:exact_synonym: gestational trophoblastic disease;   gestational trophoblastic diseases;   gestational trophoblastic neoplasia;   gestational trophoblastic neoplasms
 primary_id: MESH:D031901
 xref: ICD10CM:O01;   ICD9CM:630;   MIM:PS231090;   NCI:C3110;   NCI:C4699;   NCI:C7887
For additional species annotation, visit the Alliance of Genome Resources.

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gestational trophoblastic neoplasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou5f1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chrNW_004955583:995,707...1,003,202 JBrowse link
Hydatidiform Mole term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cga glycoprotein hormones, alpha polypeptide ISO protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chrNW_004955411:14,092,743...14,168,297
Ensembl chrNW_004955411:14,092,743...14,095,302 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chrNW_004955451:17,655,659...17,690,117
Ensembl chrNW_004955451:17,653,125...17,690,117 		JBrowse link
G Mlh1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Msh2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587 		JBrowse link
Hydatidiform Mole, Invasive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh2 mutS homolog 2 ISO protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		JBrowse link
Hydatidiform Mole, Recurrent, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chrNW_004955413:27,188,013...27,247,608 JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chrNW_004955422:18,541,350...18,726,269 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    disease of cellular proliferation 6918
      Neoplastic Pregnancy Complications 16
        trophoblastic neoplasm 16
          gestational trophoblastic neoplasm 9
            Hydatidiform Mole + 8
Path 2
Term Annotations click to browse term
  disease 14316
    disease of anatomical entity 14023
      Urogenital Diseases 4543
        Female Urogenital Diseases and Pregnancy Complications 2390
          Female Urogenital Diseases 1989
            female reproductive system disease 1986
              uterine disease 464
                endometrial disease 261
                  Endometrial Neoplasms 251
                    endometrial cancer 180
                      gestational trophoblastic neoplasm 9
                        Hydatidiform Mole + 8
paths to the root