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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 57
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Accession:DOID:0112338 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in PNLDC1 on chromosome 6q25.3. (DO)
Synonyms:exact_synonym: SPGF57
 broad_synonym: MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION
 primary_id: OMIM:619528
 alt_id: DOID:9007053
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnldc1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 57 OMIM
ClinVar
PMID:25741868 PMID:34347949 PMID:35476664 NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      reproductive system disease 2848
        male reproductive system disease 1919
          male infertility 240
            spermatogenic failure 105
              spermatogenic failure 57 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Urogenital Diseases 4703
        Female Urogenital Diseases and Pregnancy Complications 2219
          Female Urogenital Diseases 1837
            female reproductive system disease 1833
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    spermatogenic failure 57 1
paths to the root