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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:Hydatidiform Mole
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Accession:DOID:9005147 term browser browse the term
Definition:Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype.
Synonyms:exact_synonym: CHM;   Complete Hydatidiform Mole;   GESTATIONAL TROPHOBLASTIC DISEASE;   HYDM;   Hydatid Mole;   Hydatid Moles;   Hydatidiform Moles;   Molar Pregnancies;   Molar Pregnancy;   Partial Hydatidiform Mole;   complete hydatidiform moles;   partial hydatidiform moles
 primary_id: MESH:D006828
 xref: EFO:1000298


show annotations for term's descendants           Sort by:
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 chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570 		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 chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943 		JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		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 chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		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 chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		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 chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943 		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 chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816 		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 chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      Neoplastic Pregnancy Complications 18
        trophoblastic neoplasm 18
          gestational trophoblastic neoplasm 11
            Hydatidiform Mole 10
              Hydatidiform Mole, Invasive 1
              Hydatidiform Mole, Recurrent, 1 1
              Hydatidiform Mole, Recurrent, 2 1
              Hydatidiform Mole, Recurrent, 3 1
              Hydatidiform Mole, Recurrent, 4 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Urogenital Diseases 4734
        Female Urogenital Diseases and Pregnancy Complications 2355
          Female Urogenital Diseases 1915
            female reproductive system disease 1912
              uterine disease 504
                endometrial disease 280
                  Endometrial Neoplasms 269
                    endometrial cancer 193
                      gestational trophoblastic neoplasm 11
                        Hydatidiform Mole 10
                          Hydatidiform Mole, Invasive 1
                          Hydatidiform Mole, Recurrent, 1 1
                          Hydatidiform Mole, Recurrent, 2 1
                          Hydatidiform Mole, Recurrent, 3 1
                          Hydatidiform Mole, Recurrent, 4 1
paths to the root