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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 ISO OMIM:305700 | OMIM:400042 MouseDO NCBI chrNW_004955413:24,685,311...24,724,269
Ensembl chrNW_004955413:24,684,073...24,724,344
JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO protein:decreased expression:testis (human) RGD PMID:22245417 RGD:9999426 NCBI chrNW_004955468:668,177...683,540
Ensembl chrNW_004955468:670,559...683,540
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO OMIM:305700 | OMIM:400042 MouseDO NCBI chrNW_004955493:6,746,380...6,747,763
Ensembl chrNW_004955493:6,746,380...6,747,763
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14196
    syndrome 9376
      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 14196
    disease of anatomical entity 13851
      Urogenital Diseases 4408
        Female Urogenital Diseases and Pregnancy Complications 2204
          Female Urogenital Diseases 1823
            female reproductive system disease 1820
              infertility 347
                male infertility 280
                  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