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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 11
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Accession:DOID:0080868 term browser browse the term
Definition:A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)
Synonyms:exact_synonym: POF11;   premature ovarian failure 11
 primary_id: OMIM:616946


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primary ovarian insufficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Premature ovarian failure 11
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9443879 PMID:10196384 PMID:10767341 PMID:18414213 PMID:18628313 More... NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G LOC126860933 BRD4-independent group 4 enhancer GRCh37_chr10:50679962-50681161 IAGP ClinVar Annotator: match by term: Premature ovarian failure 11 ClinVar PMID:18414213 PMID:19894250 PMID:23311583 PMID:24154677 PMID:25741868 More... NCBI chr10:49,471,916...49,473,115 JBrowse link
G PGBD3 piggyBac transposable element derived 3 IAGP ClinVar Annotator: match by term: Premature ovarian failure 11 ClinVar PMID:9443879 PMID:10196384 PMID:18414213 PMID:18628313 PMID:18784753 More... NCBI chr10:49,515,105...49,524,281
Ensembl chr10:49,454,470...49,539,538 		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 11 3
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 11 3
paths to the root