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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:Spermatogenic Failure 78
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Accession:DOID:9006326 term browser browse the term
Definition:A male infertility resulting from an abnormal acrosome structure due to a manchette assembly defect. Caused by homozygous mutation in the IQCN gene on chromosome 19p13.
Synonyms:exact_synonym: SPGF78
 primary_id: OMIM:620170


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Spermatogenic Failure 78 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IQCN IQ motif containing N ISO ClinVar Annotator: match by term: Spermatogenic failure 78 OMIM
ClinVar		 PMID:25741868 PMID:36321563 NCBI chr19:17,732,673...17,750,226
Ensembl chr19:18,708,155...18,719,021 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      reproductive system disease 2916
        male reproductive system disease 1926
          male infertility 256
            spermatogenic failure 131
              Spermatogenic Failure 78 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4727
        Female Urogenital Diseases and Pregnancy Complications 2329
          Female Urogenital Diseases 1917
            female reproductive system disease 1914
              infertility 333
                male infertility 256
                  spermatogenic failure 131
                    Spermatogenic Failure 78 1
paths to the root