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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 14
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Accession:DOID:9007104 term browser browse the term
Definition:A female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. Caused by homozygous or compound heterozygous mutation in the CDC20 gene on chromosome 1p34.
Synonyms:exact_synonym: OOMD14;   OZEMA14;   Oocyte Maturation Defect 14
 primary_id: MIM:620276


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Oocyte/Zygote/Embryo Maturation Arrest 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC20 cell division cycle 20 ISO ClinVar Annotator: match by term: Oocyte maturation defect 14 OMIM
ClinVar		 PMID:25741868 PMID:32666501 PMID:33683667 PMID:33898437 PMID:34218387 NCBI chr 6:167,886,266...167,890,587
Ensembl chr 6:167,886,270...167,890,583 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15279
    disease of anatomical entity 14927
      reproductive system disease 2902
        female reproductive system disease 1933
          infertility 366
            Female Infertility 63
              Oocyte/Zygote/Embryo Maturation Arrest 14 1
Path 2
Term Annotations click to browse term
  disease 15279
    disease of anatomical entity 14927
      Urogenital Diseases 4712
        Female Urogenital Diseases and Pregnancy Complications 2363
          Female Urogenital Diseases 1936
            female reproductive system disease 1933
              infertility 366
                Female Infertility 63
                  Oocyte/Zygote/Embryo Maturation Arrest 14 1
paths to the root