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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 DNAH8 on chromosome 6p21.2. (DO)
Synonyms:exact_synonym: SPGF46
 primary_id: OMIM:619095
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 46
ClinVar Annotator: match by term: Spermatogenic failure 46
OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32619401 PMID:32681648 NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      reproductive system disease 2606
        male reproductive system disease 1791
          male infertility 198
            spermatogenic failure 76
              spermatogenic failure 46 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Urogenital Diseases 4199
        Female Urogenital Diseases and Pregnancy Complications 1945
          Female Urogenital Diseases 1649
            female reproductive system disease 1645
              infertility 271
                male infertility 198
                  spermatogenic failure 76
                    spermatogenic failure 46 1
paths to the root