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ONTOLOGY REPORT - ANNOTATIONS


Term:Bietti crystalline corneoretinal dystrophy
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Accession:DOID:0050664 term browser browse the term
Definition:A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. (DO)
Synonyms:exact_synonym: BCD;   Bietti Crystalline Dystrophy;   Bietti Crystalline Retinopathy;   Bietti tapetoretinal degeneration with marginal corneal dystrophy;   Bietti's crystalline corneoretinal dystrophy;   Bietti's crystalline dystrophy
 primary_id: MESH:C535440;   RDO:0000556
 alt_id: OMIM:210370
 xref: GARD:10050
For additional species annotation, visit the Alliance of Genome Resources.


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Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 JBrowse link 16 50,111,803 50,136,741 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    sensory system disease 4697
      eye and adnexa disease 2257
        eye disease 2257
          retinal disease 715
            Bietti crystalline corneoretinal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye disease 2257
              retinal disease 715
                retinal degeneration 406
                  Bietti crystalline corneoretinal dystrophy 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.