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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 16058
    disease of anatomical entity 15305
      reproductive system disease 2574
        male reproductive system disease 1773
          male infertility 176
            spermatogenic failure 61
              spermatogenic failure 19 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1904
          Female Urogenital Diseases 1599
            female reproductive system disease 1595
              infertility 239
                male infertility 176
                  spermatogenic failure 61
                    spermatogenic failure 19 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.