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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 Maturation Defect 3
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Accession:DOID:9005770 term browser browse the term
Synonyms:exact_synonym: EMPTY FOLLICLE SYNDROME;   OOMD3;   OZEMA3;   Oocyte/zygote/embryo maturation arrest 3
 primary_id: OMIM:617712


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Oocyte Maturation Defect 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zp1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Oocyte maturation defect 3 ClinVar PMID:25741868 NCBI chr 1:207,560,881...207,567,261
Ensembl chr 1:207,560,881...207,567,261 		JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: Oocyte maturation defect 3 OMIM
ClinVar		 PMID:25741868 PMID:28886344 PMID:30810869 NCBI chr12:20,690,547...20,697,513
Ensembl chr12:20,690,547...20,697,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      reproductive system disease 2992
        female reproductive system disease 1979
          infertility 362
            Female Infertility 69
              Oocyte Maturation Defect 3 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Urogenital Diseases 5221
        Female Urogenital Diseases and Pregnancy Complications 2433
          Female Urogenital Diseases 1982
            female reproductive system disease 1979
              infertility 362
                Female Infertility 69
                  Oocyte Maturation Defect 3 2
paths to the root