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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 type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement.
Synonyms:exact_synonym: Del Castillo syndrome;   germinal cell aplasia
 primary_id: MESH:D054331
 alt_id: RDO:0003455
 xref: GARD:8406
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 7:120,796,217...120,840,524
Ensembl chr 7:120,796,217...120,839,577
JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO protein:decreased expression:testis (human) RGD PMID:22245417 RGD:9999426 NCBI chr 1:86,994,090...87,006,776
Ensembl chr 1:86,996,093...87,006,776
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISS OMIM:305700 | OMIM:400042 MouseDO NCBI chr 1:194,767,484...194,769,519
Ensembl chr 1:194,767,474...194,769,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      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 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        Female Urogenital Diseases and Pregnancy Complications 1893
          Female Urogenital Diseases 1587
            female reproductive system disease 1583
              infertility 233
                male infertility 171
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.