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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 More... NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            X-linked monogenic disease 1369
              ovarian dysgenesis 2 1
                primary ovarian insufficiency 4 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Urogenital Diseases 5234
        Female Urogenital Diseases and Pregnancy Complications 2455
          Female Urogenital Diseases 2002
            female reproductive system disease 1999
              Adnexal Diseases 900
                ovarian disease 891
                  Primary Ovarian Failure 169
                    46 XX gonadal dysgenesis 20
                      ovarian dysgenesis 2 1
                        primary ovarian insufficiency 4 0
paths to the root