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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 47
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Accession:DOID:0112175 term browser browse the term
Definition:A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in DZIP1 on chromosome 13q32.1. (DO)
Synonyms:exact_synonym: SPGF47
 primary_id: OMIM:619102
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 47 OMIM
ClinVar
PMID:32051257 NCBI chr15:104,117,551...104,168,574
Ensembl chr15:104,117,556...104,170,958
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      reproductive system disease 2609
        male reproductive system disease 1793
          male infertility 198
            spermatogenic failure 76
              spermatogenic failure 47 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Urogenital Diseases 4203
        Female Urogenital Diseases and Pregnancy Complications 1949
          Female Urogenital Diseases 1652
            female reproductive system disease 1648
              infertility 274
                male infertility 198
                  spermatogenic failure 76
                    spermatogenic failure 47 1
paths to the root