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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 6
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Accession:DOID:9001599 term browser browse the term
Definition:Oocyte maturation defect-6 (OOMD6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients. OOMD6 is caused by homozygous mutation in the ZP2 gene on chromosome 16p12. (OMIM)
Synonyms:exact_synonym: OOMD6;   OZEMA6;   Oocyte Maturation Defect 6
 primary_id: OMIM:618353


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Oocyte/Zygote/Embryo Maturation Arrest 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zp2 zona pellucida glycoprotein 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 6 OMIM
ClinVar		 PMID:25741868 PMID:28971300 PMID:29895852 PMID:30810869 PMID:35211729 NCBI chr 1:174,513,507...174,525,288
Ensembl chr 1:174,513,511...174,525,288 		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 6 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 6 1
paths to the root