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:cataract 43
go back to main search page
Accession:DOID:0110259 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: CTRCT43
 broad_synonym: UNC45B-RELATED CONDITION
 primary_id: MIM:616279


show annotations for term's descendants           Sort by:
cataract 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Cataract 43 | ClinVar Annotator: match by term: UNC45B-related condition OMIM
ClinVar		 PMID:24549050 PMID:25741868 PMID:28492532 PMID:31852522 PMID:33217308 NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7375
      eye disease 3725
        lens disease 557
          cataract 546
            cataract 43 1
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Signs and Symptoms 11204
        Neurologic Manifestations 10440
          sensory system disease 7375
            eye disease 3725
              lens disease 557
                cataract 546
                  cataract 43 1
paths to the root