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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 13
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Accession:DOID:0080870 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: POF13;   premature ovarian failure 13
 primary_id: OMIM:617442
For additional species annotation, visit the Alliance of Genome Resources.



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primary ovarian insufficiency 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Premature ovarian failure 13 ClinVar
OMIM
PMID:28175301 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                primary ovarian insufficiency 13 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Urogenital Diseases 4682
        Female Urogenital Diseases and Pregnancy Complications 2212
          Female Urogenital Diseases 1835
            female reproductive system disease 1831
              Adnexal Diseases 829
                ovarian disease 820
                  Primary Ovarian Failure 151
                    primary ovarian insufficiency 138
                      primary ovarian insufficiency 13 1
paths to the root