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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: MIM: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 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal dominant disease 6645
                primary ovarian insufficiency 6 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              Adnexal Diseases 1075
                ovarian disease 1066
                  Primary Ovarian Failure 173
                    primary ovarian insufficiency 160
                      primary ovarian insufficiency 6 1
paths to the root