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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:An azoospermia 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: OMIM:619108
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:25741868 PMID:32017041 PMID:32673564 NCBI chr 4:113,772,716...113,864,171
Ensembl chr 4:113,782,206...113,863,224
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      reproductive system disease 2606
        male reproductive system disease 1791
          male infertility 198
            azoospermia 45
              spermatogenic failure 48 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Urogenital Diseases 4199
        Female Urogenital Diseases and Pregnancy Complications 1945
          Female Urogenital Diseases 1649
            female reproductive system disease 1645
              infertility 271
                male infertility 198
                  azoospermia 45
                    spermatogenic failure 48 1
paths to the root