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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:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            spermatogenic failure 135
              X-Linked Spermatogenic Failure 7 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  spermatogenic failure 135
                    X-Linked Spermatogenic Failure 7 1
paths to the root