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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 2B
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Accession:DOID:0080859 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. (DO)
Synonyms:exact_synonym: POF1B-RELATED CONDITION;   POF2B;   premature ovarian failure 2B
 primary_id: MESH:C564476
 alt_id: OMIM:300604


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primary ovarian insufficiency 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15459172 PMID:16773570 PMID:21940798 PMID:25676666 PMID:25741868 More... NCBI chr  X:77,683,128...77,749,827
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2B ClinVar NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            X-linked monogenic disease 1363
              X-linked recessive disease 581
                primary ovarian insufficiency 2B 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              Adnexal Diseases 903
                ovarian disease 894
                  Primary Ovarian Failure 167
                    primary ovarian insufficiency 156
                      primary ovarian insufficiency 2B 2
paths to the root