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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:ovarian dysgenesis 2
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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;   hypergonadotropic ovarian dysgenesis, X-linked;   hypergonadotropic ovarian failure due to ovarian dysgenesis
 narrow_synonym: POF4;   premature ovarian failure 4
 primary_id: MESH:C564499
 alt_id: OMIM:300510

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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 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 More... NCBI chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9437
            X-linked monogenic disease 1196
              ovarian dysgenesis 2 1
                primary ovarian insufficiency 4 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Urogenital Diseases 4392
        Female Urogenital Diseases and Pregnancy Complications 2183
          Female Urogenital Diseases 1803
            female reproductive system disease 1800
              Adnexal Diseases 848
                ovarian disease 841
                  Primary Ovarian Failure 160
                    46 XX gonadal dysgenesis 19
                      ovarian dysgenesis 2 1
                        primary ovarian insufficiency 4 0
paths to the root