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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 17
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Accession:DOID:9005201 term browser browse the term
Definition:A female infertility due to arrest of the embryo after the first rounds of cleavage or failure to establish pregnancy after implantation. Caused by homozygous or compound heterozygous mutation in the KPNA7 gene on chromosome 7q22.
Synonyms:exact_synonym: OZEMA17
 xref: MIM:620319;   MONDO:0957220


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Oocyte/Zygote/Embryo Maturation Arrest 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kpna7 karyopherin subunit alpha 7 ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29302074 PMID:36647821 NCBI chr12:9,576,378...9,635,247
Ensembl chr12:9,576,378...9,612,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      reproductive system disease 3178
        female reproductive system disease 2175
          infertility 425
            Female Infertility 69
              Oocyte/Zygote/Embryo Maturation Arrest 17 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              infertility 425
                Female Infertility 69
                  Oocyte/Zygote/Embryo Maturation Arrest 17 1
paths to the root