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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:Young Syndrome
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Accession:DOID:9006783 term browser browse the term
Synonyms:exact_synonym: Azoospermia sinopulmonary infections;   Azoospermia, obstructive, and chronic sinopulmonary infections;   Barry-Perkins-Young syndrome;   Sinusitis-infertility syndrome
 narrow_synonym: MALE INFERTILITY DUE TO OBSTRUCTIVE AZOOSPERMIA
 primary_id: MESH:C536718
 alt_id: OMIM:279000


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Young Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia ClinVar NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Young Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  oligospermia 33
                    Young Syndrome 1
paths to the root