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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 60
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Accession:DOID:0112355 term browser browse the term
Definition:A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: SPGF 60;   SPGF60
 alt_id: DOID:9000091
 xref: MIM:619646;   MONDO:0030493


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spermatogenic failure 60 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TERB1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 60 OMIM
ClinVar		 PMID:25741868 PMID:32741963 PMID:33211200 NCBI chr16:47,071,709...47,118,205
Ensembl chr16:66,175,538...66,220,511 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15427
      reproductive system disease 2968
        male reproductive system disease 1976
          male infertility 317
            azoospermia 65
              spermatogenic failure 60 1
Path 2
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15427
      Urogenital Diseases 4784
        Female Urogenital Diseases and Pregnancy Complications 2400
          Female Urogenital Diseases 1969
            female reproductive system disease 1966
              infertility 393
                male infertility 317
                  azoospermia 65
                    spermatogenic failure 60 1
paths to the root