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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 chr15:16,803,204...16,806,935
Ensembl chr15:16,803,204...16,806,919 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15675
    disease of anatomical entity 15318
      reproductive system disease 2941
        female reproductive system disease 1956
          infertility 391
            Female Infertility 65
              Oocyte/Zygote/Embryo Maturation Arrest 14 1
Path 2
Term Annotations click to browse term
  disease 15675
    disease of anatomical entity 15318
      Urogenital Diseases 4783
        Female Urogenital Diseases and Pregnancy Complications 2420
          Female Urogenital Diseases 1959
            female reproductive system disease 1956
              infertility 391
                Female Infertility 65
                  Oocyte/Zygote/Embryo Maturation Arrest 14 1
paths to the root