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:Usher Syndrome, Type ID/F
go back to main search page
Accession:DOID:9006896 term browser browse the term
Synonyms:exact_synonym: Usher Syndrome, Type 1D/F;   Usher Syndrome, Type ID/F, Digenic
 primary_id: MESH:C567409;   RDO:0015487


show annotations for term's descendants           Sort by:
Usher Syndrome, Type ID/F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    syndrome 11279
      Usher syndrome 67
        Usher syndrome type 1 12
          Usher syndrome type 1D 5
            Usher Syndrome, Type ID/F 2
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        Neurologic Manifestations 10431
          sensory system disease 7340
            Otorhinolaryngologic Diseases 1795
              auditory system disease 1055
                Hearing Disorders 842
                  Hearing Loss 837
                    Deafness 381
                      Deaf-Blind Disorders 83
                        Usher syndrome 67
                          Usher syndrome type 1 12
                            Usher syndrome type 1D 5
                              Usher Syndrome, Type ID/F 2
paths to the root