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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 13
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Accession:DOID:0070182 term browser browse the term
Definition:A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. (DO)
Synonyms:exact_synonym: SPGF13
 primary_id: OMIM:615841


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spermatogenic failure 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf4b TATA-box binding protein associated factor 4b ISO ClinVar Annotator: match by term: Spermatogenic failure 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24431330 NCBI chr18:5,952,737...6,086,408
Ensembl chr18:5,952,769...6,068,307 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            spermatogenic failure 135
              spermatogenic failure 13 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  spermatogenic failure 135
                    spermatogenic failure 13 1
paths to the root