Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:ovarian dysgenesis 1
go back to main search page
Accession:DOID:0080493 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. (DO)
Synonyms:exact_synonym: ODG1;   OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE;   OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE;   Ovarian Dysgenesis I;   hypergonadotropic ovarian failure
 primary_id: OMIM:233300
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
ovarian dysgenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by OMIM:233300
ClinVar Annotator: match by term: Ovarian dysgenesis 1
OMIM
ClinVar
PMID:7553856 PMID:8178824 PMID:9020851 PMID:9769327 PMID:9851774 PMID:10022448 PMID:10551778 PMID:11036902 PMID:11213123 PMID:11754099 PMID:11889179 PMID:12571157 PMID:15249125 PMID:15579795 PMID:15886248 PMID:16084888 PMID:16864747 PMID:17826728 PMID:18159088 PMID:19172541 PMID:19400992 PMID:20087398 PMID:20237833 PMID:21752882 PMID:22401810 PMID:23419799 PMID:25741868 PMID:28492532 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                ovarian dysgenesis 1 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        Female Urogenital Diseases and Pregnancy Complications 1923
          Female Urogenital Diseases 1621
            female reproductive system disease 1617
              Adnexal Diseases 672
                ovarian disease 664
                  PRIMARY OVARIAN FAILURE 84
                    Ovarian Dysgenesis 10
                      ovarian dysgenesis 1 1
paths to the root