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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 80
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Accession:DOID:0070579 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3. (DO)
Synonyms:exact_synonym: SPGF80
 broad_synonym: DRC1-RELATED CONDITION
 primary_id: MIM:620222
 alt_id: DOID:9000573


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spermatogenic failure 80 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 80 OMIM
ClinVar		 PMID:25741868 PMID:34169321 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      reproductive system disease 3039
        male reproductive system disease 2032
          male infertility 331
            spermatogenic failure 181
              spermatogenic failure 80 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Urogenital Diseases 5271
        Female Urogenital Diseases and Pregnancy Complications 2502
          Female Urogenital Diseases 2031
            female reproductive system disease 2028
              infertility 423
                male infertility 331
                  spermatogenic failure 181
                    spermatogenic failure 80 1
paths to the root