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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy ClinVar PMID:9054934 PMID:23755871 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29186038 PMID:30718709 PMID:33546218 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy
ClinVar Annotator: match by OMIM:210370
ClinVar Annotator: match by term: Bietti Crystalline Dystrophy
OMIM
ClinVar
PMID:15042513 PMID:15937078 PMID:16179904 PMID:17962476 PMID:21565171 PMID:22693542 PMID:22772592 PMID:23221965 PMID:23661369 PMID:24033266 PMID:24480711 PMID:24739949 PMID:25356976 PMID:25593508 PMID:25611614 PMID:25741868 PMID:26971461 PMID:28051075 PMID:28492532 PMID:28848678 PMID:29691984 PMID:33546218 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        retinal disease 805
          Bietti crystalline corneoretinal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            eye degenerative disease 480
              retinal degeneration 478
                Bietti crystalline corneoretinal dystrophy 2
paths to the root