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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 the WDR66 gene on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER;   MALE INFERTILITY WITH SPERMATOGENESIS DISORDER DUE TO SINGLE GENE MUTATION;   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


show annotations for term's descendants           Sort by:
spermatogenic failure 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc146 coiled-coil domain containing 146 ISO ClinVar Annotator: match by term: Male infertility due to sperm motility disorder | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder due to single gene mutation ClinVar NCBI chr 5:21,496,749...21,629,675
Ensembl chr 5:21,497,959...21,629,675 		JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: Spermatogenic failure 33 OMIM
ClinVar		 PMID:30122540 PMID:30122541 NCBI chr 5:123,390,196...123,465,547
Ensembl chr 5:123,390,165...123,465,547 		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 chr14:30,982,332...31,045,926
Ensembl chr14:30,982,332...31,045,853 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      reproductive system disease 2973
        male reproductive system disease 1954
          male infertility 263
            spermatogenic failure 136
              spermatogenic failure 33 3
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Urogenital Diseases 4894
        Female Urogenital Diseases and Pregnancy Complications 2429
          Female Urogenital Diseases 1966
            female reproductive system disease 1963
              infertility 339
                male infertility 263
                  spermatogenic failure 136
                    spermatogenic failure 33 3
paths to the root