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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 7
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Accession:DOID:0080864 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)
Synonyms:exact_synonym: POF7;   premature ovarian failure 7
 narrow_synonym: ADRENAL INSUFFICIENCY, NR5A1-RELATED
 primary_id: MESH:C567838
 alt_id: MIM:612964


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primary ovarian insufficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7		 OMIM
CTD
ClinVar		 PMID:11038323 PMID:11932325 PMID:17940071 PMID:19246354 PMID:25741868 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10879
            autosomal genetic disease 10366
              autosomal dominant disease 6706
                primary ovarian insufficiency 7 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      Urogenital Diseases 5378
        Female Urogenital Diseases and Pregnancy Complications 2657
          Female Urogenital Diseases 2180
            female reproductive system disease 2177
              Adnexal Diseases 1075
                ovarian disease 1066
                  Primary Ovarian Failure 173
                    primary ovarian insufficiency 160
                      primary ovarian insufficiency 7 1
paths to the root