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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: EFO:1001422;   GARD:8406;   NCI:C168988


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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
Ensembl chr 1:181,213,368...181,215,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      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 21118
    disease of anatomical entity 18162
      Urogenital Diseases 5144
        Female Urogenital Diseases and Pregnancy Complications 2392
          Female Urogenital Diseases 1961
            female reproductive system disease 1958
              infertility 352
                male infertility 262
                  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