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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:Oocyte/Zygote/Embryo Maturation Arrest 9
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Accession:DOID:9006192 term browser browse the term
Synonyms:exact_synonym: OOMD9;   OZEMA9;   Oocyte Maturation Defect 9
 primary_id: OMIM:619011


show annotations for term's descendants           Sort by:
Oocyte/Zygote/Embryo Maturation Arrest 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Oocyte maturation defect 9 OMIM
ClinVar		 PMID:25741868 PMID:32473092 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      reproductive system disease 3010
        female reproductive system disease 2000
          infertility 400
            Female Infertility 69
              Oocyte/Zygote/Embryo Maturation Arrest 9 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              infertility 400
                Female Infertility 69
                  Oocyte/Zygote/Embryo Maturation Arrest 9 1
paths to the root