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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 13
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Accession:DOID:9004592 term browser browse the term
Definition:A disease characterized by female infertility due to recurrent preimplantation embryonic arrest. Caused by homozygous or compound heterozygous mutation in the ZFP36L2 gene on chromosome 2p21.
Synonyms:exact_synonym: OOMD13;   OZEMA13;   Oocyte Maturation Defect 13
 primary_id: OMIM:620154


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Oocyte/Zygote/Embryo Maturation Arrest 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp36l2 zinc finger protein 36, C3H type-like 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 13 OMIM
ClinVar		 PMID:34611029 NCBI chr 6:10,490,032...10,494,073
Ensembl chr 6:10,490,032...10,494,064 		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 13 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 13 1
paths to the root