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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;   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.


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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            X-linked monogenic disease 920
              ovarian dysgenesis 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Urogenital Diseases 4147
        Female Urogenital Diseases and Pregnancy Complications 1905
          Female Urogenital Diseases 1600
            female reproductive system disease 1596
              Adnexal Diseases 673
                ovarian disease 665
                  PRIMARY OVARIAN FAILURE 83
                    Ovarian Dysgenesis 10
                      ovarian dysgenesis 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.