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
Accession: DOID:3590
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 .
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Gestational trophoblastic neoplasia
ClinVar
PMID:21948117 PMID:25741868
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Pou5f1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18440631
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Cga
glycoprotein hormones, alpha polypeptide
ISO
protein:increased expression:serum
RGD
PMID:2473429
RGD:2293636
NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
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Eftud2
elongation factor Tu GTP binding domain containing 2
ISO
protein:increased expression:trophoblast, decidua:
RGD
PMID:32447180
RGD:155791666
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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Khdc3
KH domain containing 3, subcortical maternal complex member
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydatidiform mole
CTD ClinVar
PMID:25741868
NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248
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Mlh1
mutL homolog 1
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:syncytiotrophoblast cell
RGD
PMID:16884384
RGD:2290363
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Msh2
mutS homolog 2
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Msh2
mutS homolog 2
ISO
protein:decreased expression:mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1
ClinVar
PMID:19066229 PMID:21507883 PMID:24105752
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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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 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25097207 PMID:25741868 PMID:26544189 PMID:26956250 PMID:28166811 PMID:28492532 More...
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Khdc3
KH domain containing 3, 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 PMID:23232697 PMID:24033266 PMID:25741868 More...
NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248
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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 chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
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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 chr 1:201,902,564...201,989,945
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