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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 chr22:19,433,989...19,485,804
Ensembl chr22:37,253,609...37,305,769 		JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L ISO protein:decreased expression:testis (human) RGD PMID:22245417 RGD:9999426 NCBI chr19:35,943,720...35,959,795 JBrowse link
G NUPR1 nuclear protein 1, transcriptional regulator ISO OMIM:305700 | OMIM:400042 MouseDO Ensembl chr16:29,015,155...29,016,987 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    syndrome 10220
      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 15685
    disease of anatomical entity 15296
      Urogenital Diseases 4744
        Female Urogenital Diseases and Pregnancy Complications 2354
          Female Urogenital Diseases 1941
            female reproductive system disease 1938
              infertility 368
                male infertility 292
                  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