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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;   CYP4V2-related disorder
 primary_id: MESH:C535440
 alt_id: MIM:210370
 xref: GARD:10050;   NCI:C179299


show annotations for term's descendants           Sort by:
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 Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal dystrophy ClinVar PMID:9054934 PMID:10958761 PMID:23755871 PMID:24938718 PMID:25312043 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:210370
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: CYP4V2-related disorder		 OMIM
CTD
MouseDO
ClinVar		 PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 PMID:16199547 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395 		JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy ClinVar PMID:17962476 PMID:25741868 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      eye disease 3696
        retinal disease 1401
          Bietti crystalline corneoretinal dystrophy 3
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              retinal disease 1401
                retinal degeneration 854
                  Bietti crystalline corneoretinal dystrophy 3
paths to the root