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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:Premature Ovarian Failure 23
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Accession:DOID:9007561 term browser browse the term
Definition:A disease characterized by female infertility due to reduction of ovarian reserve. Caused by homozygous mutation in the MEIOB gene on chromosome 16p13.
Synonyms:exact_synonym: POF23;   primary ovarian insufficiency 23
 broad_synonym: MEIOB-RELATED CONDITION
 primary_id: MIM:620686


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Premature Ovarian Failure 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 23 ClinVar PMID:31000419 PMID:35991565 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: MEIOB-related condition | ClinVar Annotator: match by term: Premature ovarian failure 23 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30838384 PMID:31000419 PMID:34392356 More... NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      endocrine system disease 7033
        gonadal disease 1388
          ovarian disease 1065
            Primary Ovarian Failure 174
              primary ovarian insufficiency 160
                Premature Ovarian Failure, Familial 4
                  Premature Ovarian Failure 23 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        Female Urogenital Diseases and Pregnancy Complications 2665
          Female Urogenital Diseases 2188
            female reproductive system disease 2185
              Adnexal Diseases 1074
                ovarian disease 1065
                  Primary Ovarian Failure 174
                    primary ovarian insufficiency 160
                      Premature Ovarian Failure, Familial 4
                        Premature Ovarian Failure 23 2
paths to the root