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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 10
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Accession:DOID:9002039 term browser browse the term
Synonyms:exact_synonym: OOMD10;   OZEMA10;   Oocyte Maturation Defect 10
 primary_id: OMIM:619176


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Oocyte/Zygote/Embryo Maturation Arrest 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Oocyte maturation defect 10 OMIM
ClinVar		 PMID:31704776 NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887 		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 10 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 10 1
paths to the root