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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 40
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Accession:DOID:0111918 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in CFAP65 on chromosome 2q35. (DO)
Synonyms:exact_synonym: SPGF40
 primary_id: OMIM:618664
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 40 ClinVar
OMIM
PMID:28552195, PMID:31413122, PMID:31501240, PMID:31571197 NCBI chr 9:82,163,016...82,197,909
Ensembl chr 9:82,163,075...82,195,722
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      reproductive system disease 2563
        male reproductive system disease 1760
          male infertility 171
            spermatogenic failure 60
              spermatogenic failure 40 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        Female Urogenital Diseases and Pregnancy Complications 1895
          Female Urogenital Diseases 1589
            female reproductive system disease 1585
              infertility 233
                male infertility 171
                  spermatogenic failure 60
                    spermatogenic failure 40 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.