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RGD uses the Human Disease Ontology (DO, 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 12
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Accession:DOID:0080869 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: POF12;   premature ovarian failure 12
 primary_id: OMIM:616947
For additional species annotation, visit the Alliance of Genome Resources.

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primary ovarian insufficiency 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 12 OMIM
PMID:25062452 PMID:32917591 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                primary ovarian insufficiency 12 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Urogenital Diseases 4703
        Female Urogenital Diseases and Pregnancy Complications 2219
          Female Urogenital Diseases 1837
            female reproductive system disease 1833
              Adnexal Diseases 835
                ovarian disease 826
                  Primary Ovarian Failure 151
                    primary ovarian insufficiency 138
                      primary ovarian insufficiency 12 1
paths to the root