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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 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


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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
ISS		 ClinVar Annotator: match by term: Premature ovarian failure 12
CTD Direct Evidence: marker/mechanism
OMIM:616946		 OMIM
ClinVar
CTD
MouseDO		 PMID:25062452 PMID:32917591 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                primary ovarian insufficiency 12 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2457
          Female Urogenital Diseases 2004
            female reproductive system disease 2001
              Adnexal Diseases 905
                ovarian disease 896
                  Primary Ovarian Failure 169
                    primary ovarian insufficiency 158
                      primary ovarian insufficiency 12 1
paths to the root