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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 28
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Accession:DOID:0111916 term browser browse the term
Definition:A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. (DO)
Synonyms:exact_synonym: SPGF28
 broad_synonym: FANCM-RELATED CONDITION
 primary_id: MIM:618086


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spermatogenic failure 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Spermatogenic failure 28 OMIM
ClinVar		 PMID:2867840 PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 More... NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      reproductive system disease 3200
        male reproductive system disease 2053
          male infertility 351
            spermatogenic failure 190
              spermatogenic failure 28 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        Female Urogenital Diseases and Pregnancy Complications 2693
          Female Urogenital Diseases 2204
            female reproductive system disease 2201
              infertility 445
                male infertility 351
                  spermatogenic failure 190
                    spermatogenic failure 28 1
paths to the root