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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:AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS
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Accession:DOID:9004144 term browser browse the term
Definition:A disease characterized by male infertility due to obstruction at the head of the epididymis, as well as hypercalciuria and kidney stones.
Synonyms:exact_synonym: OAZON;   obstructive azoospermia with nephrolithiasis
 primary_id: OMIM:301060


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AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis ClinVar
OMIM		 PMID:31320686 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            azoospermia 68
              AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  azoospermia 68
                    AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS 1
paths to the root