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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 5
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Accession:DOID:0080862 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. (DO)
Synonyms:exact_synonym: POF5;   premature ovarian failure 5
 primary_id: MESH:C566921
 alt_id: OMIM:611548
For additional species annotation, visit the Alliance of Genome Resources.


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primary ovarian insufficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by OMIM:611548
ClinVar Annotator: match by term: Premature ovarian failure 5
OMIM
ClinVar
PMID:17701902 PMID:18930203 PMID:21837770 PMID:24103315 PMID:25514101 PMID:25741868 PMID:25960166 PMID:26848058 PMID:28492532 PMID:31042289 NCBI chr 4:72,749,239...72,757,066
Ensembl chr 4:72,751,382...72,756,887
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    Developmental Disease 10919
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9449
        genetic disease 8952
          monogenic disease 7121
            autosomal genetic disease 6275
              autosomal dominant disease 4455
                primary ovarian insufficiency 5 1
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      Urogenital Diseases 4336
        Female Urogenital Diseases and Pregnancy Complications 2040
          Female Urogenital Diseases 1737
            female reproductive system disease 1733
              Adnexal Diseases 796
                ovarian disease 787
                  PRIMARY OVARIAN FAILURE 143
                    primary ovarian insufficiency 137
                      primary ovarian insufficiency 5 1
paths to the root