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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 19
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Accession:DOID:0070170 term browser browse the term
Definition:A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. (DO)
Synonyms:exact_synonym: SPGF19
 primary_id: OMIM:617592


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spermatogenic failure 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO
ISS		 ClinVar Annotator: match by term: Spermatogenic failure 19
OMIM:617592		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            spermatogenic failure 135
              spermatogenic failure 19 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  spermatogenic failure 135
                    spermatogenic failure 19 1
paths to the root