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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 27
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Accession:DOID:0111928 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. (DO)
Synonyms:exact_synonym: SPGF27
 primary_id: OMIM:617965
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak7 adenylate kinase 7 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 27 ClinVar
OMIM
PMID:25741868 PMID:29365104 NCBI chr 6:129,538,648...129,606,960
Ensembl chr 6:129,538,982...129,606,932
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      reproductive system disease 2571
        male reproductive system disease 1758
          male infertility 183
            spermatogenic failure 70
              spermatogenic failure 27 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Urogenital Diseases 4143
        Female Urogenital Diseases and Pregnancy Complications 1910
          Female Urogenital Diseases 1617
            female reproductive system disease 1613
              infertility 247
                male infertility 183
                  spermatogenic failure 70
                    spermatogenic failure 27 1
paths to the root