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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, 4
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Accession:DOID:9007235 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-4 (HYDM4) is caused by homozygous mutation in the C11ORF80 gene on chromosome 11q13. (OMIM)
Synonyms:exact_synonym: HYDM4
 primary_id: OMIM:618432

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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 chrNW_004936599:2,798,185...2,875,995
Ensembl chrNW_004936599:2,798,340...2,876,370 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of cellular proliferation 6811
      Neoplastic Pregnancy Complications 17
        trophoblastic neoplasm 17
          gestational trophoblastic neoplasm 9
            Hydatidiform Mole 8
              Hydatidiform Mole, Recurrent, 4 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      Urogenital Diseases 4489
        Female Urogenital Diseases and Pregnancy Complications 2224
          Female Urogenital Diseases 1840
            female reproductive system disease 1837
              uterine disease 476
                endometrial disease 268
                  Endometrial Neoplasms 257
                    endometrial cancer 184
                      gestational trophoblastic neoplasm 9
                        Hydatidiform Mole 8
                          Hydatidiform Mole, Recurrent, 4 1
paths to the root