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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 the TTC29 gene on chromosome 4q31.22. (DO)
Synonyms:exact_synonym: SPGF42
 primary_id: OMIM:618745


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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 OMIM
ClinVar		 PMID:31735292 PMID:31735294 NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      reproductive system disease 3010
        male reproductive system disease 2012
          male infertility 309
            spermatogenic failure 173
              spermatogenic failure 42 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              infertility 400
                male infertility 309
                  spermatogenic failure 173
                    spermatogenic failure 42 1
paths to the root