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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 9
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Accession:DOID:0111156 term browser browse the term
Definition:A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. (DO)
Synonyms:exact_synonym: SPGF9;   complete globozoospermia;   total globozoospermia
 primary_id: OMIM:613958
 alt_id: DOID:0070175


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spermatogenic failure 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy19l2 dpy-19 like 2 ISO ClinVar Annotator: match by term: Spermatogenic failure 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15533374 PMID:21397063 PMID:21397064 PMID:22627659 PMID:22653751 More... NCBI chr 8:23,062,592...23,181,817
Ensembl chr 8:23,063,115...23,181,798 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                spermatogenic failure 9 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 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              infertility 400
                male infertility 309
                  Teratozoospermia 18
                    male infertility due to globozoospermia 3
                      spermatogenic failure 9 1
paths to the root