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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: POF14;   premature ovarian failure 14
 primary_id: OMIM:618014
For additional species annotation, visit the Alliance of Genome Resources.


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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: PREMATURE OVARIAN FAILURE 14 ClinVar
OMIM
PMID:29044499 NCBI chr10:38,782,519...38,793,238
Ensembl chr10:38,788,992...38,792,940
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal recessive disease 3236
                primary ovarian insufficiency 14 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Urogenital Diseases 4204
        Female Urogenital Diseases and Pregnancy Complications 1950
          Female Urogenital Diseases 1654
            female reproductive system disease 1650
              Adnexal Diseases 716
                ovarian disease 708
                  PRIMARY OVARIAN FAILURE 142
                    primary ovarian insufficiency 136
                      primary ovarian insufficiency 14 1
paths to the root