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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 65
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Accession:DOID:0112354 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4. (DO)
Synonyms:exact_synonym: DNHD1-RELATED CONDITION;   SPGF65
 primary_id: OMIM:619712
 alt_id: DOID:9003804


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spermatogenic failure 65 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: DNHD1-related condition | ClinVar Annotator: match by term: Spermatogenic failure 65 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:33279834 PMID:34932939 More... NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      reproductive system disease 3011
        male reproductive system disease 2008
          male infertility 305
            spermatogenic failure 173
              spermatogenic failure 65 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2457
          Female Urogenital Diseases 2004
            female reproductive system disease 2001
              infertility 397
                male infertility 305
                  spermatogenic failure 173
                    spermatogenic failure 65 1
paths to the root