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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 39
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Accession:DOID:0111926 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in DNAH17 on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: SPGF39
 primary_id: OMIM:618643
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah17 dynein, axonemal, heavy chain 17 ISO ClinVar Annotator: match by term: Spermatogenic failure 39 OMIM
ClinVar
PMID:25741868 PMID:31178125 NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      reproductive system disease 2842
        male reproductive system disease 1910
          male infertility 240
            spermatogenic failure 105
              spermatogenic failure 39 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Female Urogenital Diseases and Pregnancy Complications 2213
          Female Urogenital Diseases 1836
            female reproductive system disease 1832
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    spermatogenic failure 39 1
paths to the root