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 PhenoMiner (Quantitative Phenotypes) 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:Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
go back to main search page
Accession:DOID:9000849 term browser browse the term
Synonyms:primary_id: OMIM:616108;   RDO:9001211
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gphn gephyrin ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome ClinVar PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM
ClinVar		 PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
Path 2
Term Annotations click to browse term
  disease 20983
    Pathological Conditions, Signs and Symptoms 13307
      Signs and Symptoms 10863
        Neurologic Manifestations 10111
          sensory system disease 7131
            eye disease 3308
              eye degenerative disease 807
                retinal degeneration 805
                  fundus dystrophy 659
                    Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
paths to the root