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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 16
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Accession:DOID:9000708 term browser browse the term
Synonyms:exact_synonym: OZEMA16;   PREMBL2;   Preimplantation Embryonic Lethality 2
 primary_id: OMIM:617234


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Oocyte/Zygote/Embryo Maturation Arrest 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27545678 PMID:34987164 NCBI chr 5:153,021,855...153,037,443
Ensembl chr 5:153,021,965...153,037,414 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Death 174
          Embryo Loss 22
            Oocyte/Zygote/Embryo Maturation Arrest 16 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                Female Infertility 69
                  Oocyte/Zygote/Embryo Maturation Arrest 16 1
paths to the root