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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:Sertoli cell-only syndrome
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Accession:DOID:0050457 term browser browse the term
Definition:A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. (DO)
Synonyms:exact_synonym: Del Castillo syndrome;   germinal cell aplasia
 primary_id: MESH:D054331
 xref: GARD:8406;   NCI:C168988
For additional species annotation, visit the Alliance of Genome Resources.



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Sertoli cell-only syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmc1 DNA meiotic recombinase 1 ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952
JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO protein:decreased expression:testis (human) RGD PMID:22245417 RGD:9999426 NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 1:181,213,292...181,215,327 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    syndrome 8140
      Sertoli cell-only syndrome 3
        Sertoli Cell-Only Syndrome, Type II 0
        X-linked spermatogenic failure 1 0
        Y-linked spermatogenic failure 1 0
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      Urogenital Diseases 4360
        Female Urogenital Diseases and Pregnancy Complications 2047
          Female Urogenital Diseases 1742
            female reproductive system disease 1738
              infertility 284
                male infertility 202
                  Sertoli cell-only syndrome 3
                    Sertoli Cell-Only Syndrome, Type II 0
                    X-linked spermatogenic failure 1 0
                    Y-linked spermatogenic failure 1 0
paths to the root