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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
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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 15849
    sensory system disease 4942
      eye disease 2378
        retinal disease 748
          Bietti crystalline corneoretinal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 15849
    disease of anatomical entity 15241
      nervous system disease 10711
        sensory system disease 4942
          eye disease 2378
            eye degenerative disease 444
              retinal degeneration 442
                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.