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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 6
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Accession:DOID:0080863 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: POF6;   premature ovarian failure 6
 primary_id: MESH:C567351
 alt_id: OMIM:612310


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primary ovarian insufficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Figla folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by term: Premature ovarian failure 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18499083 PMID:25314148 PMID:25741868 PMID:29914564 PMID:30474133 NCBI chr 4:118,432,517...118,436,846
Ensembl chr 4:118,432,765...118,436,690 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                primary ovarian insufficiency 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2457
          Female Urogenital Diseases 2004
            female reproductive system disease 2001
              Adnexal Diseases 905
                ovarian disease 896
                  Primary Ovarian Failure 169
                    primary ovarian insufficiency 158
                      primary ovarian insufficiency 6 1
paths to the root