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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 53
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Accession:DOID:0112279 term browser browse the term
Definition:A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: SPGF53
 primary_id: OMIM:619258
 alt_id: DOID:9008411


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spermatogenic failure 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl9 actin-like 9 ISO ClinVar Annotator: match by term: Spermatogenic failure 53 OMIM
ClinVar		 PMID:33626338 NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            spermatogenic failure 135
              spermatogenic failure 53 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  spermatogenic failure 135
                    spermatogenic failure 53 1
paths to the root