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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 7
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Accession:DOID:0070173 term browser browse the term
Definition:A male infertility characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: CATSPER-related nonsyndromic male infertility;   CATSPER1-related male infertility;   CATSPER1-related nonsyndromic male infertility;   MIAR;   SPGF7;   nonsyndromic male infertility, autosomal recessive
 primary_id: MESH:C567832
 alt_id: MESH:C579978;   OMIM:612997
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
spermatogenic failure 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 7 OMIM
ClinVar
PMID:19344877 PMID:20301780 PMID:21255775 PMID:24442342 PMID:25741868 More... NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7
CTD
ClinVar
PMID:24033266 PMID:25741868 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      reproductive system disease 2847
        male reproductive system disease 1918
          male infertility 240
            Asthenozoospermia 11
              spermatogenic failure 7 3
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Urogenital Diseases 4704
        Female Urogenital Diseases and Pregnancy Complications 2221
          Female Urogenital Diseases 1837
            female reproductive system disease 1833
              infertility 323
                male infertility 240
                  Asthenozoospermia 11
                    spermatogenic failure 7 3
paths to the root