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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 spermatogenic failure that is 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


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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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: MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7		 CTD
ClinVar		 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 PMID:25741868 More... 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 21128
    disease of anatomical entity 18211
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            Asthenozoospermia 17
              spermatogenic failure 7 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  Asthenozoospermia 17
                    spermatogenic failure 7 3
paths to the root