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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 42
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Accession:DOID:0111923 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC29 on chromosome 4q31.22. (DO)
Synonyms:exact_synonym: SPGF42
 primary_id: OMIM:618745
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc29 tetratricopeptide repeat domain 29 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 42 ClinVar
OMIM
PMID:31735292, PMID:31735294 NCBI chr19:33,205,576...33,424,955
Ensembl chr19:33,206,026...33,424,972
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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 42 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 42 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.