Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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 ISO ClinVar Annotator: match by term: Premature ovarian failure 11 ClinVar
OMIM		 PMID:9443879 PMID:10196384 PMID:10767341 PMID:18414213 PMID:18628313 More... NCBI chr10:44,703,720...44,784,948 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    Developmental Disease 13612
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12656
        genetic disease 12305
          monogenic disease 10310
            autosomal genetic disease 9501
              autosomal dominant disease 6259
                primary ovarian insufficiency 11 1
Path 2
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      Urogenital Diseases 4745
        Female Urogenital Diseases and Pregnancy Complications 2353
          Female Urogenital Diseases 1940
            female reproductive system disease 1937
              Adnexal Diseases 880
                ovarian disease 871
                  Primary Ovarian Failure 168
                    primary ovarian insufficiency 158
                      primary ovarian insufficiency 11 1
paths to the root