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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 48
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Accession:DOID:0112176 term browser browse the term
Definition:A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. (DO)
Synonyms:exact_synonym: SPGF48
 primary_id: MIM:619108


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spermatogenic failure 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Spermatogenic failure 48 OMIM
ClinVar		 PMID:25741868 PMID:32017041 PMID:32673564 NCBI chr 4:115,445,910...115,536,745
Ensembl chr 4:115,455,397...115,536,487 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      reproductive system disease 3039
        male reproductive system disease 2032
          male infertility 331
            azoospermia 70
              spermatogenic failure 48 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Urogenital Diseases 5271
        Female Urogenital Diseases and Pregnancy Complications 2502
          Female Urogenital Diseases 2031
            female reproductive system disease 2028
              infertility 423
                male infertility 331
                  azoospermia 70
                    spermatogenic failure 48 1
paths to the root