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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 59
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Accession:DOID:0112357 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 TERB2 gene on chromosome 15q21.1. (DO)
Synonyms:exact_synonym: SPGF59
 primary_id: OMIM:619645
 alt_id: DOID:9002386


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spermatogenic failure 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Spermatogenic failure 59 OMIM
ClinVar		 PMID:33211200 NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            azoospermia 68
              spermatogenic failure 59 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  azoospermia 68
                    spermatogenic failure 59 1
paths to the root