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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, Recurrent, 3
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Accession:DOID:9005301 term browser browse the term
Definition:Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes. Recurrent hydatidiform mole-3 (HYDM3) is caused by homozygous or compound heterozygous mutation in the MEI1 gene on chromosome 22q13. (OMIM)
Synonyms:exact_synonym: HYDM3
 primary_id: MIM:618431

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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_004624752:6,885,606...6,958,109 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of cellular proliferation 6872
      Neoplastic Pregnancy Complications 15
        trophoblastic neoplasm 15
          gestational trophoblastic neoplasm 8
            Hydatidiform Mole 7
              Hydatidiform Mole, Recurrent, 3 1
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      Urogenital Diseases 4515
        Female Urogenital Diseases and Pregnancy Complications 2375
          Female Urogenital Diseases 1976
            female reproductive system disease 1973
              uterine disease 461
                endometrial disease 261
                  Endometrial Neoplasms 252
                    endometrial cancer 181
                      gestational trophoblastic neoplasm 8
                        Hydatidiform Mole 7
                          Hydatidiform Mole, Recurrent, 3 1
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