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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 3
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Accession:DOID:0080495 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. (DO)
Synonyms:exact_synonym: ODG3
 primary_id: OMIM:614324


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ovarian dysgenesis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlx MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350 		JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:28492532 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
G Psmc3ip PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr10:86,024,281...86,027,928
Ensembl chr10:86,023,950...86,027,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                ovarian dysgenesis 3 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2004
            female reproductive system disease 2001
              Adnexal Diseases 905
                ovarian disease 896
                  Primary Ovarian Failure 169
                    46 XX gonadal dysgenesis 20
                      ovarian dysgenesis 3 3
paths to the root