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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 19
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Accession:DOID:0112278 term browser browse the term
Definition:A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: POF19;   POI19;   premature ovarian failure 19
 primary_id: OMIM:619245
 alt_id: DOID:9000665

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primary ovarian insufficiency 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brme1 break repair meiotic recombinase recruitment factor 1 ISO ClinVar Annotator: match by term: Premature ovarian failure 19 ClinVar PMID:24033266 PMID:25066123 PMID:25741868 NCBI chrNW_004936659:2,595,052...2,611,490
Ensembl chrNW_004936659:2,594,977...2,611,558 		JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Premature ovarian failure 19 ClinVar PMID:24033266 PMID:25066123 PMID:25741868 NCBI chrNW_004936659:2,611,621...2,627,071
Ensembl chrNW_004936659:2,613,365...2,626,666 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Premature ovarian failure 19 OMIM
ClinVar		 PMID:25741868 PMID:32845237 NCBI chrNW_004936500:600,628...676,201
Ensembl chrNW_004936500:600,656...675,997 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14498
    Developmental Disease 12615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11820
        genetic disease 11503
          monogenic disease 9654
            autosomal genetic disease 8941
              autosomal recessive disease 6283
                primary ovarian insufficiency 19 3
Path 2
Term Annotations click to browse term
  disease 14498
    disease of anatomical entity 14147
      Urogenital Diseases 4505
        Female Urogenital Diseases and Pregnancy Complications 2246
          Female Urogenital Diseases 1861
            female reproductive system disease 1858
              Adnexal Diseases 859
                ovarian disease 851
                  Primary Ovarian Failure 165
                    primary ovarian insufficiency 155
                      primary ovarian insufficiency 19 3
paths to the root