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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 18
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Accession:DOID:0112269 term browser browse the term
Definition:A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)
Synonyms:exact_synonym: POF18;   premature ovarian failure 18
 primary_id: MIM:619203
 alt_id: DOID:9002167


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primary ovarian insufficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 18 OMIM
ClinVar		 PMID:33508233 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal recessive disease 6971
                primary ovarian insufficiency 18 1
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
                      primary ovarian insufficiency 18 1
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