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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
 alt_id: DOID:9000665
 xref: MIM:619245;   MONDO:0030985


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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 chr19:23,990,049...24,011,774
Ensembl chr19:23,990,045...24,011,850 		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 chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO
ISS		 ClinVar Annotator: match by term: Premature ovarian failure 19
OMIM:619245		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:32845237 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal recessive disease 6973
                primary ovarian insufficiency 19 3
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Urogenital Diseases 5391
        Female Urogenital Diseases and Pregnancy Complications 2667
          Female Urogenital Diseases 2190
            female reproductive system disease 2187
              Adnexal Diseases 1075
                ovarian disease 1066
                  Primary Ovarian Failure 174
                    primary ovarian insufficiency 160
                      primary ovarian insufficiency 19 3
paths to the root