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 2
go back to main search page
Accession:DOID:0080494 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: ODG2;   Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis;   hypergonadotropic ovarian dysgenesis, X-linked;   premature ovarian failure 4
 narrow_synonym: OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS PREMATURE OVARIAN FAILURE 4;   POF4
 primary_id: MESH:C564499
 alt_id: OMIM:300510
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
ovarian dysgenesis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by synonym: Premature ovarian failure 4
ClinVar Annotator: match by term: Ovarian dysgenesis 2
ClinVar Annotator: match by term: Premature ovarian failure 4
OMIM
ClinVar
PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 PMID:19263482 PMID:20364024 PMID:20547206 PMID:25741868 PMID:28492532 PMID:31957178 NCBI chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            X-linked monogenic disease 1032
              ovarian dysgenesis 2 1
                primary ovarian insufficiency 4 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        Female Urogenital Diseases and Pregnancy Complications 1924
          Female Urogenital Diseases 1629
            female reproductive system disease 1625
              Adnexal Diseases 712
                ovarian disease 704
                  PRIMARY OVARIAN FAILURE 137
                    Ovarian Dysgenesis 10
                      ovarian dysgenesis 2 1
                        primary ovarian insufficiency 4 0
paths to the root