Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison 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

ONTOLOGY REPORT - ANNOTATIONS
Term:Leber congenital amaurosis 8
go back to main search page
Accession:DOID:0110079 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)
Synonyms:exact_synonym: LCA8
 primary_id: OMIM:613835
 alt_id: RDO:9000513
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
 
Leber congenital amaurosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      eye and adnexa disease 2253
        eye disease 2253
          retinal disease 716
            Leber congenital amaurosis 63
              Leber congenital amaurosis 8 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              retinal disease 716
                Leber congenital amaurosis 63
                  Leber congenital amaurosis 8 1
paths to the root

Contact Us |  About Us |  License CC BY 4.0 |  Legal Disclaimer |  © Medical College of Wisconsin
NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.