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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: POF2B;   premature ovarian failure 2B
 primary_id: MESH:C564476
 alt_id: OMIM:300604
For additional species annotation, visit the Alliance of Genome Resources.


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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: Premature ovarian failure 2b
ClinVar Annotator: match by OMIM:300604
OMIM
ClinVar
PMID:15459172 PMID:16773570 PMID:21940798 PMID:25676666 PMID:25741868 PMID:28492532 NCBI chr  X:84,099,618...84,167,717
Ensembl chr  X:84,099,618...84,167,717
JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2b ClinVar NCBI chr  X:84,062,363...84,095,888
Ensembl chr  X:84,064,427...84,096,617
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9164
        genetic disease 8677
          monogenic disease 6660
            X-linked monogenic disease 1017
              X-linked recessive disease 370
                primary ovarian insufficiency 2B 2
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      Urogenital Diseases 4256
        Female Urogenital Diseases and Pregnancy Complications 2017
          Female Urogenital Diseases 1722
            female reproductive system disease 1718
              Adnexal Diseases 795
                ovarian disease 786
                  PRIMARY OVARIAN FAILURE 143
                    primary ovarian insufficiency 137
                      primary ovarian insufficiency 2B 2
paths to the root