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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:X-Linked Spermatogenic Failure 4
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Accession:DOID:9001624 term browser browse the term
Definition:Characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. Caused by hemizygous mutation in the GCNA gene on chromosome Xq13.
Synonyms:exact_synonym: SPGFX4
 primary_id: OMIM:301077

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X-Linked Spermatogenic Failure 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcna germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chrNW_004955475:11,111,151...11,145,474 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      reproductive system disease 2716
        male reproductive system disease 1777
          male infertility 242
            spermatogenic failure 125
              X-Linked Spermatogenic Failure 4 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Urogenital Diseases 4394
        Female Urogenital Diseases and Pregnancy Complications 2183
          Female Urogenital Diseases 1803
            female reproductive system disease 1800
              infertility 311
                male infertility 242
                  spermatogenic failure 125
                    X-Linked Spermatogenic Failure 4 1
paths to the root