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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:Bothnia retinal dystrophy
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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
 alt_id: OMIM:607475


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Bothnia retinal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:607475
ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY		 OMIM
CTD
MouseDO
ClinVar		 PMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15234312 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      eye disease 3497
        fundus dystrophy 705
          Bothnia retinal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              retinal disease 1224
                retinal degeneration 856
                  fundus dystrophy 705
                    Bothnia retinal dystrophy 1
paths to the root