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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 41
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Accession:DOID:0111912 term browser browse the term
Definition:A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in CFAP70 on chromosome 10q22.2. (DO)
Synonyms:exact_synonym: SPGF41
 primary_id: OMIM:618670
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap70 cilia and flagella associated protein 70 ISO ClinVar Annotator: match by term: Spermatogenic failure 41 ClinVar
OMIM
PMID:31621862 NCBI chr15:3,852,381...3,918,036
Ensembl chr15:3,852,509...3,918,014
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      reproductive system disease 2848
        male reproductive system disease 1919
          male infertility 240
            spermatogenic failure 105
              spermatogenic failure 41 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Urogenital Diseases 4703
        Female Urogenital Diseases and Pregnancy Complications 2219
          Female Urogenital Diseases 1837
            female reproductive system disease 1833
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    spermatogenic failure 41 1
paths to the root