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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 33
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Accession:DOID:0111915 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in WDR66 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: SPGF33;   non-syndromic male infertility due to sperm motility disorder
 broad_synonym: MALE INFERTILITY WITH TERATOZOOSPERMIA DUE TO SINGLE GENE MUTATION
 primary_id: OMIM:618152
For additional species annotation, visit the Alliance of Genome Resources.

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spermatogenic failure 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 33 ClinVar
OMIM		 PMID:30122540 PMID:30122541 NCBI chr12:38,708,915...38,781,598
Ensembl chr12:38,709,595...38,782,010 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder ClinVar PMID:24033266 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      reproductive system disease 2592
        male reproductive system disease 1791
          male infertility 183
            spermatogenic failure 68
              spermatogenic failure 33 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        Female Urogenital Diseases and Pregnancy Complications 1923
          Female Urogenital Diseases 1621
            female reproductive system disease 1617
              infertility 247
                male infertility 183
                  spermatogenic failure 68
                    spermatogenic failure 33 2
paths to the root