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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 62
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Accession:DOID:0112351 term browser browse the term
Definition:A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3. (DO)
Synonyms:exact_synonym: SPGF62
 primary_id: OMIM:619673
 alt_id: DOID:9000031


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spermatogenic failure 62 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Spermatogenic failure 62 OMIM
ClinVar		 PMID:31125047 NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      reproductive system disease 3011
        male reproductive system disease 2008
          male infertility 305
            azoospermia 68
              spermatogenic failure 62 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
                  azoospermia 68
                    spermatogenic failure 62 1
paths to the root