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 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
Advanced Search (OLGA)

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 46
go back to main search page
Accession:DOID:0112164 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. (DO)
Synonyms:exact_synonym: DNAH8-RELATED CONDITION;   SPGF46
 primary_id: MIM:619095


show annotations for term's descendants           Sort by:
spermatogenic failure 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah8 dynein, axonemal, heavy chain 8 ISO
ISS		 OMIM:619095
ClinVar Annotator: match by term: DNAH8-related condition | ClinVar Annotator: match by term: Spermatogenic failure 46		 OMIM
MouseDO
ClinVar		 PMID:16199547 PMID:24033266 PMID:24307375 PMID:25741868 PMID:28492532 More... NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      reproductive system disease 3178
        male reproductive system disease 2035
          male infertility 333
            spermatogenic failure 181
              spermatogenic failure 46 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              infertility 425
                male infertility 333
                  spermatogenic failure 181
                    spermatogenic failure 46 1
paths to the root