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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 24
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Accession:DOID:0111929 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in CFAP69 on chromosome 7q21.13. (DO)
Synonyms:exact_synonym: SPGF24
 primary_id: OMIM:617959
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap69 cilia and flagella associated protein 69 ISO ClinVar Annotator: match by term: Spermatogenic failure 24 OMIM
ClinVar		 PMID:25741868 PMID:29606301 PMID:30415212 NCBI chr 4:28,379,604...28,452,562
Ensembl chr 4:28,375,996...28,450,698 		JBrowse link
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 24 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 24 1
paths to the root