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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:spermatogenic failure 35
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Accession:DOID:0111914 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: SPGF35
 primary_id: MIM:618341


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spermatogenic failure 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrich2 glutamine rich 2 ISO ClinVar Annotator: match by term: Spermatogenic failure 35 OMIM
ClinVar		 PMID:25741868 PMID:31110204 PMID:31292949 NCBI chr10:101,669,240...101,697,643
Ensembl chr10:101,669,224...101,697,656 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      reproductive system disease 3178
        male reproductive system disease 2035
          male infertility 333
            spermatogenic failure 181
              spermatogenic failure 35 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              infertility 425
                male infertility 333
                  spermatogenic failure 181
                    spermatogenic failure 35 1
paths to the root