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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 12
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Accession:DOID:9003492 term browser browse the term
Definition:Characterized by female infertility due to early embryonic arrest. Caused by homozygous mutation in the FBXO43 gene on chromosome 8q22.
Synonyms:exact_synonym: OOMD12;   OZEMA12;   Oocyte Maturation Defect 12
 primary_id: OMIM:619697


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Oocyte/Zygote/Embryo Maturation Arrest 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Oocyte maturation defect 12 OMIM
ClinVar		 PMID:34052850 PMID:34595750 NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      reproductive system disease 3023
        female reproductive system disease 2013
          infertility 402
            Female Infertility 69
              Oocyte/Zygote/Embryo Maturation Arrest 12 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      Urogenital Diseases 5249
        Female Urogenital Diseases and Pregnancy Complications 2467
          Female Urogenital Diseases 2016
            female reproductive system disease 2013
              infertility 402
                Female Infertility 69
                  Oocyte/Zygote/Embryo Maturation Arrest 12 1
paths to the root