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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 the FSIP2 gene on chromosome 2q32.1. (DO)
Synonyms:exact_synonym: SPGF34
 broad_synonym: FSIP2-related condition
 xref: MIM:618153;   MONDO:0029148


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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: FSIP2-related condition | ClinVar Annotator: match by term: Spermatogenic failure 34 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30137358 PMID:35654582 NCBI chr 3:88,369,218...88,439,756
Ensembl chr 3:88,369,251...88,440,697 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      reproductive system disease 3200
        male reproductive system disease 2053
          male infertility 351
            spermatogenic failure 190
              spermatogenic failure 34 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        Female Urogenital Diseases and Pregnancy Complications 2693
          Female Urogenital Diseases 2204
            female reproductive system disease 2201
              infertility 445
                male infertility 351
                  spermatogenic failure 190
                    spermatogenic failure 34 1
paths to the root