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:monogenic disease
go back to main search page
Accession:DOID:0050177 term browser browse the term
Definition:A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO)


show annotations for term's descendants           Sort by:


Your selection has 10255 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 17996
        Developmental Disease 17885
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
            genetic disease 17786
              monogenic disease 10255
                Alport syndrome + 16
                Bartter disease + 8
                Brugada syndrome + 124
                Camurati-Engelmann disease + 3
                Cornelia de Lange syndrome + 45
                Fanconi anemia complementation group F 1
                Fanconi anemia complementation group G 2
                Fanconi anemia complementation group J 1
                Fanconi anemia complementation group N 1
                Leber congenital amaurosis 10 2
                Leber congenital amaurosis 3 8
                Leber congenital amaurosis 7 4
                Noonan syndrome + 56
                Ritscher-Schinzel syndrome + 4
                SHOX-related short stature 0
                X-linked monogenic disease + 1375
                Y-linked monogenic disease + 6
                anterior segment dysgenesis + 34
                autosomal genetic disease + 9441
                basal laminar drusen 1
                cardiofaciocutaneous syndrome + 8
                cataract + 418
                catecholaminergic polymorphic ventricular tachycardia + 29
                chondrodysplasia punctata + 10
                ciliopathy + 1023
                cone-rod dystrophy + 96
                corticosteroid-binding globulin deficiency 1
                dilated cardiomyopathy 1BB 4
                dilated cardiomyopathy 1EE 1
                dilated cardiomyopathy 1FF 2
                dilated cardiomyopathy 1G 8
                dilated cardiomyopathy 1GG 1
                dilated cardiomyopathy 1H 25
                dilated cardiomyopathy 1I 3
                dilated cardiomyopathy 1J 1
                dilated cardiomyopathy 1K 0
                dilated cardiomyopathy 1L 1
                dilated cardiomyopathy 1M 1
                dilated cardiomyopathy 1O 8
                dilated cardiomyopathy 1P 2
                dilated cardiomyopathy 1Q 0
                dilated cardiomyopathy 1T 1
                dilated cardiomyopathy 1W 2
                dilated cardiomyopathy 1Z 1
                erythrokeratodermia variabilis + 9
                familial hemophagocytic lymphohistiocytosis 5 27
                familial nephrotic syndrome + 49
                fetal akinesia deformation sequence syndrome + 64
                gene duplication disease + 635
                hereditary combined deficiency of vitamin K-dependent clotting factors + 3
                hypochondrogenesis 1
                infantile histiocytoid cardiomyopathy 2
                inflammatory bowel disease 1 4
                inflammatory bowel disease 10 1
                inflammatory bowel disease 11 0
                inflammatory bowel disease 12 1
                inflammatory bowel disease 13 1
                inflammatory bowel disease 14 1
                inflammatory bowel disease 15 0
                inflammatory bowel disease 16 0
                inflammatory bowel disease 17 1
                inflammatory bowel disease 18 0
                inflammatory bowel disease 19 1
                inflammatory bowel disease 2 0
                inflammatory bowel disease 20 0
                inflammatory bowel disease 22 0
                inflammatory bowel disease 23 0
                inflammatory bowel disease 24 0
                inflammatory bowel disease 26 0
                inflammatory bowel disease 27 0
                inflammatory bowel disease 4 0
                inflammatory bowel disease 5 1
                inflammatory bowel disease 6 0
                inflammatory bowel disease 7 0
                inflammatory bowel disease 8 0
                inflammatory bowel disease 9 0
                isolated microphthalmia 4 1
                lambda 5 deficiency 0
                multiple epiphyseal dysplasia due to collagen 9 anomaly + 3
                osteogenesis imperfecta type 14 1
                osteogenesis imperfecta type 6 1
                posterior polymorphous corneal dystrophy 3 1
                postural orthostatic tachycardia syndrome 0
                primary congenital glaucoma + 13
                schizophrenia 13 0
                schizophrenia 14 0
                schizophrenia 16 0
                schizophrenia 18 2
                schizophrenia 9 1
    paths to the root