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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 20
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Accession:DOID:0070166 term browser browse the term
Definition:A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. (DO)
Synonyms:exact_synonym: SPGF20
 primary_id: OMIM:617593
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap44 cilia and flagella associated protein 44 ISO ClinVar Annotator: match by term: Spermatogenic failure 20 OMIM
ClinVar
PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr11:56,199,050...56,284,053
Ensembl chr11:56,201,049...56,283,986
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      reproductive system disease 2842
        male reproductive system disease 1910
          male infertility 240
            spermatogenic failure 105
              spermatogenic failure 20 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Female Urogenital Diseases and Pregnancy Complications 2213
          Female Urogenital Diseases 1836
            female reproductive system disease 1832
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    spermatogenic failure 20 1
paths to the root