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- NCIT_C179299 IAO_0000115 "An autosomal recessive condition caused by mutation (s) in the CYP4V2 gene, encoding cytochrome P450 4V2. It is characterized by multiple glistening intraretinal crystalline deposits scattered throughout the posterior pole associated with progressive atrophy of the retinal pigment epithelium and choroidal sclerosis. The crystalline deposits are also present in the corneal limbus in some individuals." @default.
- NCIT_C179299 NCIT_NHC0 "C179299" @default.
- NCIT_C179299 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C179299 NCIT_P108 "Bietti Crystalline Corneoretinal Dystrophy" @default.
- NCIT_C179299 NCIT_P207 "C1859486" @default.
- NCIT_C179299 NCIT_P322 "Cellosaurus" @default.
- NCIT_C179299 NCIT_R100 NCIT_C12219 @default.
- NCIT_C179299 NCIT_R100 NCIT_C12343 @default.
- NCIT_C179299 NCIT_R100 NCIT_C12401 @default.
- NCIT_C179299 NCIT_R100 NCIT_C13018 @default.
- NCIT_C179299 NCIT_R100 NCIT_C13019 @default.
- NCIT_C179299 NCIT_R100 NCIT_C32221 @default.
- NCIT_C179299 NCIT_R100 NCIT_C33224 @default.
- NCIT_C179299 NCIT_R100 NCIT_C38626 @default.
- NCIT_C179299 NCIT_R108 NCIT_C3367 @default.
- NCIT_C179299 NCIT_R108 NCIT_C3824 @default.
- NCIT_C179299 NCIT_R108 NCIT_C54062 @default.
- NCIT_C179299 NCIT_R108 NCIT_C7057 @default.
- NCIT_C179299 NCIT_R176 NCIT_C16612 @default.
- NCIT_C179299 NCIT_R176 NCIT_C200328 @default.
- NCIT_C179299 NCIT_R176 NCIT_C21281 @default.
- NCIT_C179299 NCIT_R176 NCIT_C25939 @default.
- NCIT_C179299 NCIT_R176 NCIT_C26511 @default.
- NCIT_C179299 normalizedInformationContent "100" @default.
- NCIT_C179299 referenceCount "1" @default.
- NCIT_C179299 hasExactSynonym "BCD" @default.
- NCIT_C179299 hasExactSynonym "Bietti Crystalline Corneoretinal Dystrophy" @default.
- NCIT_C179299 inSubset NCIT_C165258 @default.
- NCIT_C179299 inSubset NCIT_C192842 @default.
- NCIT_C179299 type Class @default.
- NCIT_C179299 isDefinedBy ncit.owl @default.
- NCIT_C179299 label "Bietti Crystalline Corneoretinal Dystrophy" @default.
- NCIT_C179299 subClassOf B413241662fd2310874373486c809c328 @default.
- NCIT_C179299 subClassOf B6f2a605c029ff7a48debd4f8cd54ed2e @default.
- NCIT_C179299 subClassOf NCIT_C179299 @default.
- NCIT_C179299 subClassOf NCIT_C26767 @default.
- NCIT_C179299 subClassOf NCIT_C26875 @default.
- NCIT_C179299 subClassOf NCIT_C27551 @default.
- NCIT_C179299 subClassOf NCIT_C27604 @default.
- NCIT_C179299 subClassOf NCIT_C27610 @default.
- NCIT_C179299 subClassOf NCIT_C2991 @default.
- NCIT_C179299 subClassOf NCIT_C35194 @default.
- NCIT_C179299 subClassOf NCIT_C35625 @default.
- NCIT_C179299 subClassOf NCIT_C53529 @default.
- NCIT_C179299 subClassOf NCIT_C53531 @default.
- NCIT_C179299 subClassOf NCIT_C7057 @default.