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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 21
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Accession:DOID:9006981 term browser browse the term
Definition:A female infertility caused by zygote arrest due to pronuclei fusion failure. Caused by heterozygous mutation in the CHEK1 gene on chromosome 11q24.
Synonyms:exact_synonym: OZEMA21
 primary_id: OMIM:620610


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Oocyte/Zygote/Embryo Maturation Arrest 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 21 OMIM
ClinVar		 PMID:25741868 PMID:33948904 PMID:33953335 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009 		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 21 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 21 1
paths to the root