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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 46
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Accession:DOID:0112164 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. (DO)
Synonyms:exact_synonym: DNAH8-RELATED CONDITION;   SPGF46
 primary_id: OMIM:619095


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spermatogenic failure 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah8 dynein, axonemal, heavy chain 8 ISO
IAGP		 OMIM:619095
ClinVar Annotator: match by term: DNAH8-related condition | ClinVar Annotator: match by term: Spermatogenic failure 46		 OMIM
MouseDO
ClinVar		 PMID:16199547 PMID:24033266 PMID:24307375 PMID:25741868 PMID:25741916 More... NCBI chr17:30,845,909...31,094,736
Ensembl chr17:30,843,328...31,096,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      reproductive system disease 2973
        male reproductive system disease 1954
          male infertility 263
            spermatogenic failure 136
              spermatogenic failure 46 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Urogenital Diseases 4894
        Female Urogenital Diseases and Pregnancy Complications 2429
          Female Urogenital Diseases 1966
            female reproductive system disease 1963
              infertility 339
                male infertility 263
                  spermatogenic failure 136
                    spermatogenic failure 46 1
paths to the root