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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 56
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Accession:DOID:0112336 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: SPGF56
 primary_id: OMIM:619515
 alt_id: DOID:9003560


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spermatogenic failure 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah10 dynein, axonemal, heavy chain 10 ISO ClinVar Annotator: match by term: Spermatogenic failure 56 OMIM
ClinVar		 PMID:25741868 PMID:34237282 NCBI chr12:31,823,451...31,946,857
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            spermatogenic failure 135
              spermatogenic failure 56 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
                  spermatogenic failure 135
                    spermatogenic failure 56 1
paths to the root