Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 49
go back to main search page
Accession:DOID:0112271 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. (DO)
Synonyms:exact_synonym: SPGF49;   SPGF98
 primary_id: MIM:619144
 alt_id: DOID:9003200


show annotations for term's descendants           Sort by:
spermatogenic failure 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Spermatogenic failure 49 OMIM
ClinVar		 PMID:25741868 PMID:32791035 NCBI chr28:16,653,212...16,752,229
Ensembl chr28:16,653,208...16,751,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15606
    disease of anatomical entity 15201
      reproductive system disease 2930
        male reproductive system disease 1929
          male infertility 297
            spermatogenic failure 169
              spermatogenic failure 49 1
Path 2
Term Annotations click to browse term
  disease 15606
    disease of anatomical entity 15201
      Urogenital Diseases 4768
        Female Urogenital Diseases and Pregnancy Complications 2390
          Female Urogenital Diseases 1950
            female reproductive system disease 1947
              infertility 370
                male infertility 297
                  spermatogenic failure 169
                    spermatogenic failure 49 1
paths to the root