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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 43
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Accession:DOID:0111917 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in ansence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in SPEF2 on chromosome 5p13.2. (DO)
Synonyms:exact_synonym: SPGF43
 primary_id: OMIM:618751
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spef2 sperm flagellar 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 43 ClinVar
OMIM
PMID:31048344, PMID:31151990, PMID:31278745 NCBI chr 2:58,901,937...59,084,194
Ensembl chr 2:58,901,939...59,181,863
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      reproductive system disease 2563
        male reproductive system disease 1760
          male infertility 171
            spermatogenic failure 60
              spermatogenic failure 43 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        Female Urogenital Diseases and Pregnancy Complications 1895
          Female Urogenital Diseases 1589
            female reproductive system disease 1585
              infertility 233
                male infertility 171
                  spermatogenic failure 60
                    spermatogenic failure 43 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.