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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;   NCI:C3110;   NCI:C4699;   NCI:C7887;   OMIM:PS231090
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
gestational trophoblastic neoplasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 PMID:25741868 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 PMID:25741868 NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426 		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 chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147 		JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:25741868 NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826 		JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		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 chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 OMIM
ClinVar		 PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More... NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844 		JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 OMIM
ClinVar		 PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826 		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 chr22:22,592,508...22,692,370
Ensembl chr22:40,678,001...40,777,076 		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 Ensembl chr11:65,427,937...65,522,087 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplastic Pregnancy Complications 20
        trophoblastic neoplasm 20
          gestational trophoblastic neoplasm 12
            Hydatidiform Mole + 11
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4727
        Female Urogenital Diseases and Pregnancy Complications 2329
          Female Urogenital Diseases 1917
            female reproductive system disease 1914
              uterine disease 504
                endometrial disease 280
                  Endometrial Neoplasms 269
                    endometrial cancer 193
                      gestational trophoblastic neoplasm 12
                        Hydatidiform Mole + 11
paths to the root