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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 6
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Accession:DOID:0070167 term browser browse the term
Definition:A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. (DO)
Synonyms:exact_synonym: SPGF6;   acrosome malformation of spermatozoa;   round-headed spermatozoa
 broad_synonym: globozoospermia
 primary_id: OMIM:102530


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spermatogenic failure 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Globozoospermia | ClinVar Annotator: match by term: Spermatogenic failure 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458 NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                spermatogenic failure 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2457
          Female Urogenital Diseases 2004
            female reproductive system disease 2001
              infertility 397
                male infertility 305
                  Teratozoospermia 18
                    male infertility due to globozoospermia 3
                      spermatogenic failure 6 1
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