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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: 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 OMIM:243060
ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA		 ClinVar
OMIM		 PMID:17435757 PMID:19147683 PMID:21733974 PMID:24033266 PMID:28492532 NCBI chr 1:69,958,452...69,964,546
Ensembl chr 1:69,958,452...69,963,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      reproductive system disease 2587
        male reproductive system disease 1774
          male infertility 193
            spermatogenic failure 72
              spermatogenic failure 5 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        Female Urogenital Diseases and Pregnancy Complications 1924
          Female Urogenital Diseases 1629
            female reproductive system disease 1625
              infertility 257
                male infertility 193
                  spermatogenic failure 72
                    spermatogenic failure 5 1
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