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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 16
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Accession:DOID:0080873 term browser browse the term
Definition:A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. (DO)
Synonyms:exact_synonym: POF16;   genetic non-acquired premature ovarian failure;   premature ovarian failure 16
 primary_id: OMIM:618723
 xref: EFO:0010646


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primary ovarian insufficiency 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMH anti-Mullerian hormone IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073 		JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672 		JBrowse link
G ANKRD31 ankyrin repeat domain 31 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:75,068,297...75,236,878
Ensembl chr 5:75,068,275...75,236,911 		JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 More... NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure 16 OMIM
ClinVar		 PMID:10909 PMID:25741868 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:11802209 PMID:12601471 PMID:15290653 PMID:16683254 PMID:17026620 More... NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:32091409 PMID:33471991 PMID:34326862 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643 		JBrowse link
G FOXL2 forkhead box L2 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:24728327 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GDF9 growth differentiation factor 9 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884 		JBrowse link
G HFM1 helicase for meiosis 1 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G KASH5 KASH domain containing 5 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 PMID:35708642 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G LOC112469008 Sharpr-MPRA regulatory region 83 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr16:57,462,537...57,462,831 JBrowse link
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:35090489 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 6:31,739,948...31,764,850
Ensembl chr 6:31,740,020...31,764,851 		JBrowse link
G NOBOX NOBOX oogenesis homeobox IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:17701902 NCBI chr 7:144,396,900...144,410,227
Ensembl chr 7:144,397,240...144,410,227 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:22028768 PMID:22907560 PMID:25122490 PMID:25741868 PMID:27169744 More... NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PGBD3 piggyBac transposable element derived 3 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr10:49,515,105...49,524,281
Ensembl chr10:49,454,470...49,539,538 		JBrowse link
G PGRMC1 progesterone receptor membrane component 1 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr  X:119,236,285...119,244,466
Ensembl chr  X:119,236,245...119,244,466 		JBrowse link
G POLR2C RNA polymerase II subunit C IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr16:57,462,679...57,472,009
Ensembl chr16:57,462,660...57,472,009 		JBrowse link
G PRDM9 PR/SET domain 9 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:23,507,155...23,528,093
Ensembl chr 5:23,443,586...23,528,093 		JBrowse link
G SMC1B structural maintenance of chromosomes 1B IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr22:45,344,063...45,413,599
Ensembl chr22:45,344,063...45,413,619 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24638
        genetic disease 23830
          monogenic disease 18586
            autosomal genetic disease 16857
              autosomal dominant disease 10968
                primary ovarian insufficiency 16 28
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      Urogenital Diseases 6481
        Female Urogenital Diseases and Pregnancy Complications 3024
          Female Urogenital Diseases 2491
            female reproductive system disease 2488
              Adnexal Diseases 993
                ovarian disease 984
                  Primary Ovarian Failure 183
                    primary ovarian insufficiency 170
                      primary ovarian insufficiency 16 28
paths to the root