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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 5
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Accession:DOID:0070183 term browser browse the term
Definition:A male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid;   MALE INFERTILITY WITH SPERMATOGENESIS DISORDER;   SPGF5;   infertility associated with multi-tailed spermatozoa and excessive DNA;   infertility associated with multitailed spermatozoa and excessive DNA;   macrocephalic sperm head syndrome;   male infertility due to macrozoospermia;   male infertility with large-headed, multiflagellar, polyploid spermatozoa
 primary_id: MESH:C562903
 alt_id: OMIM:243060
 xref: GARD:12385;   ORDO:137893
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder OMIM
ClinVar		 PMID:17435757 PMID:19147683 PMID:21733974 PMID:22888167 PMID:24033266 More... NCBI chr 1:66,843,653...66,864,348
Ensembl chr 1:66,843,653...66,864,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      reproductive system disease 2848
        male reproductive system disease 1912
          male infertility 241
            spermatogenic failure 105
              spermatogenic failure 5 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Urogenital Diseases 4694
        Female Urogenital Diseases and Pregnancy Complications 2220
          Female Urogenital Diseases 1842
            female reproductive system disease 1838
              infertility 324
                male infertility 241
                  spermatogenic failure 105
                    spermatogenic failure 5 1
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