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:cataract 1 multiple types
go back to main search page
Accession:DOID:0110231 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. (DO)
Synonyms:exact_synonym: CAE1;   CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;   CTRCT1;   CZP;   CZP1;   Cataract, Duffy-Linked;   Cataract, Zonular Pulverulent 1;   Pulverulent Zonular Cataract
 primary_id: MESH:C566158
 alt_id: OMIM:116200


show annotations for term's descendants           Sort by:
cataract 1 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 4:99,930,343...99,948,056
Ensembl chr 4:99,930,345...99,968,412 		JBrowse link
G BCL9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 4:99,970,388...100,058,291
Ensembl chr 4:99,970,394...100,058,164 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 4:100,264,963...100,425,728
Ensembl chr 4:100,264,968...100,425,692 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Zonular Pulverulent Cataract ClinVar NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286 		JBrowse link
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract OMIM
ClinVar		 PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 More... NCBI chr 4:99,721,754...99,724,943
Ensembl chr 4:99,723,341...99,724,672 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    sensory system disease 6527
      eye disease 3338
        lens disease 416
          cataract 406
            cataract 1 multiple types 6
Path 2
Term Annotations click to browse term
  disease 15277
    Pathological Conditions, Signs and Symptoms 11809
      Signs and Symptoms 9748
        Neurologic Manifestations 9430
          sensory system disease 6527
            eye disease 3338
              lens disease 416
                cataract 406
                  cataract 1 multiple types 6
paths to the root