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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) 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) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 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 GERRC (Gene Editing Rat Resource Center) 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 Poster 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:autosomal genetic disease
go back to main search page
Accession:DOID:0050739 term browser browse the term
Definition:A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. (DO)


show annotations for term's descendants           Sort by:


Your selection has 9277 annotated objects. The maximum number of objects that can be shown is 2000. The list is too large to display.

  • Select a more specific term using the term browser
  • Download the entire list for this term
  • Display annotations for this term only (exclude descendants)


    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 21112
        Developmental Disease 18434
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
            genetic disease 18231
              monogenic disease 10212
                autosomal genetic disease 9354
                  Aicardi-Goutieres syndrome + 210
                  Gillespie syndrome 2
                  McCune Albright syndrome 2
                  Robinow syndrome + 9
                  Sotos syndrome + 67
                  Weill-Marchesani syndrome + 5
                  autosomal dominant disease + 6131
                  autosomal hemophilia A 1
                  autosomal recessive disease + 6380
                  blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
                  combined oxidative phosphorylation deficiency 55 1
                  congenital nystagmus 1 1
                  distal arthrogryposis type 1C 1
                  exudative vitreoretinopathy 4 1
                  factor XI deficiency 11
                  familial Mediterranean fever + 23
                  familial adenomatous polyposis + 404
                  focal segmental glomerulosclerosis 3 1
                  hereditary spastic paraplegia 30 52
                  hypophosphatasia + 3
                  retinitis pigmentosa 86 1
                  septooptic dysplasia + 16
                  spondylocostal dysostosis 5 29
                  syndromic microphthalmia 12 3
                  syndromic microphthalmia 14 2
                  syndromic microphthalmia 8 0
                  thrombophilia due to thrombomodulin defect 1
                  tubulinopathy 1
    paths to the root