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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 69
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Accession:DOID:9002042 term browser browse the term
Definition:Characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome. Caused by homozygous mutation in the gametogenetin gene (GGN) on chromosome 19q13.
Synonyms:exact_synonym: SPGF69
 primary_id: OMIM:619826


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Spermatogenic Failure 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggn gametogenetin ISO ClinVar Annotator: match by term: Spermatogenic failure 69 OMIM
ClinVar		 PMID:31985809 PMID:33108537 NCBI chr 1:84,470,488...84,474,120
Ensembl chr 1:84,470,508...84,474,114 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            spermatogenic failure 135
              Spermatogenic Failure 69 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        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 69 1
paths to the root