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 Behavioral & Substance Use Disorder 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 2 multiple types
go back to main search page
Accession:DOID:0110235 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: CATARACT 2, COPPOCK-LIKE;   CCL;   CRYGC-RELATED CONDITION;   CTRCT2;   Cataract, Coppock-Like;   Cataract, Embryonic Nuclear;   cataract 2 multiple types with or without microcornea
 narrow_synonym: nuclear pulverulent cataract
 primary_id: MIM:604307
 alt_id: MESH:C565133


show annotations for term's descendants           Sort by:
cataract 2 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygc crystallin, gamma C ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:604307 		OMIM
CTD
MouseDO		 NCBI chr 9:73,945,332...73,947,367
Ensembl chr 9:73,945,334...73,947,367 		JBrowse link
G Crygd crystallin, gamma D ISS OMIM:604307 MouseDO NCBI chr 9:73,935,798...73,937,409
Ensembl chr 9:73,935,795...73,937,808 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    sensory system disease 4800
      eye disease 2086
        lens disease 244
          cataract 235
            cataract 2 multiple types 2
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          sensory system disease 4800
            eye disease 2086
              lens disease 244
                cataract 235
                  cataract 2 multiple types 2
paths to the root