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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: OMIM:612964
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:612964
ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED
OMIM
ClinVar
PMID:11038323 PMID:11932325 PMID:19246354 PMID:26523528 PMID:27855412 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                primary ovarian insufficiency 7 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Urogenital Diseases 4317
        Female Urogenital Diseases and Pregnancy Complications 2026
          Female Urogenital Diseases 1727
            female reproductive system disease 1723
              Adnexal Diseases 795
                ovarian disease 786
                  PRIMARY OVARIAN FAILURE 143
                    primary ovarian insufficiency 137
                      primary ovarian insufficiency 7 1
paths to the root