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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 11
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Accession:DOID:0070180 term browser browse the term
Definition:A male infertility characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: SPGF11
 primary_id: OMIM:615081
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by OMIM:615081
ClinVar Annotator: match by term: Spermatogenic failure 11
OMIM
ClinVar
PMID:17047026 PMID:28492532 NCBI chr10:88,356,652...88,372,929
Ensembl chr10:88,356,615...88,372,899
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      reproductive system disease 2573
        male reproductive system disease 1763
          male infertility 183
            spermatogenic failure 70
              spermatogenic failure 11 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1913
          Female Urogenital Diseases 1619
            female reproductive system disease 1615
              infertility 247
                male infertility 183
                  spermatogenic failure 70
                    spermatogenic failure 11 1
paths to the root