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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 OMIM:612997
ClinVar Annotator: match by term: Spermatogenic failure 7
OMIM
ClinVar
PMID:19344877, PMID:21255775, PMID:24442342, PMID:28492532 NCBI chr 1:220,715,000...220,724,235
Ensembl chr 1:220,714,995...220,719,939
JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:113,357,361...113,379,498
Ensembl chr 3:113,357,365...113,376,751
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 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      reproductive system disease 2574
        male reproductive system disease 1773
          male infertility 176
            Asthenozoospermia 8
              spermatogenic failure 7 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1904
          Female Urogenital Diseases 1599
            female reproductive system disease 1595
              infertility 239
                male infertility 176
                  Asthenozoospermia 8
                    spermatogenic failure 7 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.