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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 5
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Accession:DOID:9003990 term browser browse the term
Definition:A male infertility due to asthenoteratozoospermia. Caused by hemizygous mutation in the SSX1 gene on chromosome Xp11.
Synonyms:exact_synonym: SPGFX5
 primary_id: OMIM:301099


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X-Linked Spermatogenic Failure 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SSX1 SSX family member 1 IAGP ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 5 OMIM
ClinVar		 PMID:25741868 PMID:36796361 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      reproductive system disease 4002
        male reproductive system disease 2565
          male infertility 314
            spermatogenic failure 172
              X-Linked Spermatogenic Failure 5 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Urogenital Diseases 6456
        Female Urogenital Diseases and Pregnancy Complications 2996
          Female Urogenital Diseases 2464
            female reproductive system disease 2461
              infertility 397
                male infertility 314
                  spermatogenic failure 172
                    X-Linked Spermatogenic Failure 5 1
paths to the root