Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Bothnia retinal dystrophy
go back to main search page
Accession:DOID:0050683 term browser browse the term
Definition:A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO)
Synonyms:exact_synonym: Vasterbotten Dystrophy
 primary_id: MESH:C564392;   RDO:0013373
 alt_id: OMIM:607475
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Bothnia retinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    sensory system disease 4697
      eye and adnexa disease 2259
        eye disease 2259
          Hereditary Eye Diseases 505
            Bothnia retinal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              retinal disease 715
                retinal degeneration 406
                  fundus dystrophy 263
                    Bothnia retinal dystrophy 1
paths to the root

NHLBI Logo

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