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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 22
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Accession:DOID:9008187 term browser browse the term
Definition:A female infertility, with small to atrophic ovaries and no visible ovarian follicles. Caused by homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.
Synonyms:exact_synonym: POF22;   PREMATURE OVARIAN FAILURE 22
 primary_id: OMIM:620548


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Primary Ovarian Insufficiency 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Premature ovarian failure 22 OMIM
ClinVar		 PMID:25741868 PMID:35587281 PMID:35708642 PMID:36864840 NCBI chr 1:95,668,918...95,691,353
Ensembl chr 1:95,668,886...95,691,368 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      endocrine system disease 6819
        gonadal disease 1212
          ovarian disease 891
            Primary Ovarian Failure 169
              primary ovarian insufficiency 158
                Primary Ovarian Insufficiency 22 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Urogenital Diseases 5234
        Female Urogenital Diseases and Pregnancy Complications 2455
          Female Urogenital Diseases 2002
            female reproductive system disease 1999
              Adnexal Diseases 900
                ovarian disease 891
                  Primary Ovarian Failure 169
                    primary ovarian insufficiency 158
                      Primary Ovarian Insufficiency 22 1
paths to the root