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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 the CFAP69 gene on chromosome 7q21.13. (DO)
Synonyms:exact_synonym: CFAP69-RELATED CONDITION;   SPGF24
 primary_id: MIM:617959


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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
ISS 		OMIM:617959
ClinVar Annotator: match by term: CFAP69-related condition | ClinVar Annotator: match by term: Spermatogenic failure 24 		OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:28492532 PMID:29606301 PMID:30415212 NCBI chr 4:28,379,604...28,452,562
Ensembl chr 4:29,334,415...29,408,727 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      reproductive system disease 3200
        male reproductive system disease 2053
          male infertility 351
            spermatogenic failure 190
              spermatogenic failure 24 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        Female Urogenital Diseases and Pregnancy Complications 2693
          Female Urogenital Diseases 2204
            female reproductive system disease 2201
              infertility 445
                male infertility 351
                  spermatogenic failure 190
                    spermatogenic failure 24 1
paths to the root