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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 chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15722
    disease of cellular proliferation 7512
      Neoplastic Pregnancy Complications 18
        trophoblastic neoplasm 18
          gestational trophoblastic neoplasm 11
            Hydatidiform Mole 10
              Hydatidiform Mole, Recurrent, 3 1
Path 2
Term Annotations click to browse term
  disease 15722
    disease of anatomical entity 15368
      Urogenital Diseases 4894
        Female Urogenital Diseases and Pregnancy Complications 2576
          Female Urogenital Diseases 2113
            female reproductive system disease 2110
              uterine disease 497
                endometrial disease 280
                  Endometrial Neoplasms 269
                    endometrial cancer 193
                      gestational trophoblastic neoplasm 11
                        Hydatidiform Mole 10
                          Hydatidiform Mole, Recurrent, 3 1
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