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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:Primary Ovarian Insufficiency 20
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Accession:DOID:9002716 term browser browse the term
Definition:Characterized by female infertility due to secondary amenorrhea. Caused by homozygous mutation in the MSH4 gene on chromosome 1p31.
Synonyms:exact_synonym: POF20;   premature ovarian failure 20
 primary_id: OMIM:619938


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Primary Ovarian Insufficiency 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Premature ovarian failure 20 OMIM
ClinVar		 PMID:25741868 PMID:28541421 PMID:33448284 PMID:34755185 NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      endocrine system disease 6773
        gonadal disease 1213
          ovarian disease 894
            Primary Ovarian Failure 167
              primary ovarian insufficiency 156
                Primary Ovarian Insufficiency 20 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              Adnexal Diseases 903
                ovarian disease 894
                  Primary Ovarian Failure 167
                    primary ovarian insufficiency 156
                      Primary Ovarian Insufficiency 20 1
paths to the root