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primary ovarian insufficiency 6 - Ontology Report - Rat Genome Database

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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
 xref: MESH:C567351;   MIM:612310;   MONDO:0012861

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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 4:119,989,983...119,994,217
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 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                primary ovarian insufficiency 6 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Urogenital Diseases 5402
        Female Urogenital Diseases and Pregnancy Complications 2678
          Female Urogenital Diseases 2194
            female reproductive system disease 2191
              Adnexal Diseases 1078
                ovarian disease 1069
                  Primary Ovarian Failure 176
                    primary ovarian insufficiency 162
                      primary ovarian insufficiency 6 1
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