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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 1
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Accession:DOID:9006513 term browser browse the term
Synonyms:exact_synonym: OOMD;   OOMD1;   OZEMA1;   Oocyte/zygote/embryo maturation arrest 1
 primary_id: OMIM:615774

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Oocyte Maturation Defect 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PABPC1L poly(A) binding protein cytoplasmic 1 like ISO ClinVar Annotator: match by term: Oocyte maturation defect 1 ClinVar NCBI chr 2:18,872,217...18,904,492
Ensembl chr 2:18,872,021...18,902,991 		JBrowse link
G ZP1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | ClinVar Annotator: match by term: Oocyte maturation defect 1 OMIM
ClinVar		 PMID:24670168 PMID:25741868 PMID:30810869 NCBI chr 1:12,969,406...12,979,231
Ensembl chr 1:12,969,439...12,978,545 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14894
      reproductive system disease 2883
        female reproductive system disease 1901
          infertility 360
            Female Infertility 66
              Oocyte Maturation Defect 1 2
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14894
      Urogenital Diseases 4662
        Female Urogenital Diseases and Pregnancy Complications 2311
          Female Urogenital Diseases 1904
            female reproductive system disease 1901
              infertility 360
                Female Infertility 66
                  Oocyte Maturation Defect 1 2
paths to the root