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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 19
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Accession:DOID:0070170 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 CFAP43 gene on chromosome 10q25. (DO)
Synonyms:exact_synonym: SPGF19
 primary_id: OMIM:617592
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 19 ClinVar
OMIM
PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr 1:267,511,359...267,598,642
Ensembl chr 1:267,511,523...267,598,639
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      reproductive system disease 2592
        male reproductive system disease 1791
          male infertility 183
            spermatogenic failure 68
              spermatogenic failure 19 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        Female Urogenital Diseases and Pregnancy Complications 1923
          Female Urogenital Diseases 1621
            female reproductive system disease 1617
              infertility 247
                male infertility 183
                  spermatogenic failure 68
                    spermatogenic failure 19 1
paths to the root