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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 7
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Accession:DOID:9005480 term browser browse the term
Definition:A male infertility due to significantly reduced sperm concentration and progressive motility, with abnormalities of the head and flagella. Caused by hemizygous mutation in the CT55 gene on chromosome Xq26.
Synonyms:exact_synonym: SPGFX7
 primary_id: OMIM:301106


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X-Linked Spermatogenic Failure 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CT55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7 OMIM
ClinVar		 PMID:36481789 NCBI chr  X:110,848,227...110,890,277 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      reproductive system disease 2869
        male reproductive system disease 1888
          male infertility 254
            spermatogenic failure 130
              X-Linked Spermatogenic Failure 7 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Urogenital Diseases 4676
        Female Urogenital Diseases and Pregnancy Complications 2328
          Female Urogenital Diseases 1901
            female reproductive system disease 1898
              infertility 326
                male infertility 254
                  spermatogenic failure 130
                    X-Linked Spermatogenic Failure 7 1
paths to the root