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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 22
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Accession:DOID:0070177 term browser browse the term
Definition:A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: SPGF22
 primary_id: OMIM:617706


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spermatogenic failure 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 22 ClinVar PMID:35991565 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Spermatogenic failure 22 OMIM
ClinVar		 PMID:28206990 PMID:28492532 PMID:30838384 PMID:34392356 PMID:35991565 More... NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      reproductive system disease 2992
        male reproductive system disease 1985
          male infertility 269
            azoospermia 68
              spermatogenic failure 22 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Urogenital Diseases 5221
        Female Urogenital Diseases and Pregnancy Complications 2433
          Female Urogenital Diseases 1982
            female reproductive system disease 1979
              infertility 362
                male infertility 269
                  azoospermia 68
                    spermatogenic failure 22 2
paths to the root