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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 34
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Accession:DOID:0111911 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in FSIP2 on chromosome 2q32.1. (DO)
Synonyms:exact_synonym: SPGF34
 primary_id: OMIM:618153
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fsip2 fibrous sheath-interacting protein 2 ISO ClinVar Annotator: match by term: Spermatogenic failure 34 OMIM
ClinVar		 PMID:25741868 PMID:30137358 NCBI chr 3:67,962,345...68,032,866
Ensembl chr 3:67,962,360...68,032,868 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      reproductive system disease 2848
        male reproductive system disease 1919
          male infertility 240
            spermatogenic failure 105
              spermatogenic failure 34 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Urogenital Diseases 4703
        Female Urogenital Diseases and Pregnancy Complications 2219
          Female Urogenital Diseases 1837
            female reproductive system disease 1833
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    spermatogenic failure 34 1
paths to the root