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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 45
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Accession:DOID:0112163 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in DNAH2 on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: SPGF45
 primary_id: OMIM:619094
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 45 OMIM
ClinVar
PMID:30811583 NCBI chr10:56,029,022...56,154,602
Ensembl chr10:56,029,029...56,154,548
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      reproductive system disease 2609
        male reproductive system disease 1793
          male infertility 198
            spermatogenic failure 76
              spermatogenic failure 45 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Urogenital Diseases 4203
        Female Urogenital Diseases and Pregnancy Complications 1949
          Female Urogenital Diseases 1652
            female reproductive system disease 1648
              infertility 274
                male infertility 198
                  spermatogenic failure 76
                    spermatogenic failure 45 1
paths to the root