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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 14
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Accession:DOID:0080871 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: GDF9-RELATED CONDITION;   POF14;   premature ovarian failure 14
 xref: MIM:618014;   MONDO:0044777


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primary ovarian insufficiency 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: GDF9-related condition | ClinVar Annotator: match by term: Premature ovarian failure 14 OMIM
ClinVar		 PMID:25741868 PMID:29044499 PMID:33036707 PMID:34008892 NCBI chr10:37,589,200...37,599,970
Ensembl chr10:37,595,679...37,599,672 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal recessive disease 6973
                primary ovarian insufficiency 14 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Urogenital Diseases 5391
        Female Urogenital Diseases and Pregnancy Complications 2667
          Female Urogenital Diseases 2190
            female reproductive system disease 2187
              Adnexal Diseases 1075
                ovarian disease 1066
                  Primary Ovarian Failure 174
                    primary ovarian insufficiency 160
                      primary ovarian insufficiency 14 1
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