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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 6
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Accession:DOID:0080863 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: POF6;   premature ovarian failure 6
 primary_id: MESH:C567351
 alt_id: OMIM:612310
For additional species annotation, visit the Alliance of Genome Resources.


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primary ovarian insufficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Figla folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by OMIM:612310
ClinVar Annotator: match by term: Premature ovarian failure 6
OMIM
ClinVar
PMID:18499083 PMID:25314148 PMID:29914564 PMID:30474133 NCBI chr 4:117,679,256...117,683,618
Ensembl chr 4:117,679,342...117,683,411
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                primary ovarian insufficiency 6 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Female Urogenital Diseases and Pregnancy Complications 2030
          Female Urogenital Diseases 1731
            female reproductive system disease 1727
              Adnexal Diseases 795
                ovarian disease 786
                  PRIMARY OVARIAN FAILURE 143
                    primary ovarian insufficiency 137
                      primary ovarian insufficiency 6 1
paths to the root