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- NCIT_C185532 IAO_0000115 "A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta gene (HBB) with a mutation that produces a hemoglobin subunit beta variant, the hemoglobin beta E variant, where the glutamic acid residue at position 27 has been replaced by lysine (BE) and the other copy has HBB loss of function or gene deletion mutations (B0). This genotype is associated with beta thalassemia intermedia." @default.
- NCIT_C185532 NCIT_A13 NCIT_C84951 @default.
- NCIT_C185532 NCIT_NHC0 "C185532" @default.
- NCIT_C185532 NCIT_P106 "Laboratory or Test Result" @default.
- NCIT_C185532 NCIT_P107 "Hemoglobin Beta Heterozygous Hemoglobin E Plus Null Genotype" @default.
- NCIT_C185532 NCIT_P108 "Hemoglobin Beta Heterozygous Hemoglobin E Plus Null Genotype" @default.
- NCIT_C185532 NCIT_P208 "CL1773719" @default.
- NCIT_C185532 NCIT_P322 "CTRP" @default.
- NCIT_C185532 NCIT_P98 "The hemoglobin subunit beta variant is often reported in the literature as Glu26Lys but that numbering does not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis." @default.
- NCIT_C185532 normalizedInformationContent "100" @default.
- NCIT_C185532 referenceCount "1" @default.
- NCIT_C185532 hasExactSynonym "(B0/BE)" @default.
- NCIT_C185532 hasExactSynonym "(BE/B0)" @default.
- NCIT_C185532 hasExactSynonym "B0/BE" @default.
- NCIT_C185532 hasExactSynonym "BE/B0" @default.
- NCIT_C185532 hasExactSynonym "HBB Heterozygous Hb E with Null Genotype" @default.
- NCIT_C185532 hasExactSynonym "HBB Heterozygous Hemoglobin E with Null Genotype" @default.
- NCIT_C185532 hasExactSynonym "Hemoglobin Beta Heterozygous Hemoglobin E Plus Null Genotype" @default.
- NCIT_C185532 hasExactSynonym "beta-globin genotype (BE/B0)" @default.
- NCIT_C185532 inSubset NCIT_C116977 @default.
- NCIT_C185532 inSubset NCIT_C142799 @default.
- NCIT_C185532 inSubset NCIT_C142800 @default.
- NCIT_C185532 type Class @default.
- NCIT_C185532 isDefinedBy ncit.owl @default.
- NCIT_C185532 label "Hemoglobin Beta Heterozygous Hemoglobin E Plus Null Genotype" @default.
- NCIT_C185532 subClassOf NCIT_C103223 @default.
- NCIT_C185532 subClassOf NCIT_C185500 @default.
- NCIT_C185532 subClassOf NCIT_C185523 @default.
- NCIT_C185532 subClassOf NCIT_C185532 @default.
- NCIT_C185532 subClassOf NCIT_C3367 @default.
- NCIT_C185532 subClassOf NCIT_C36292 @default.
- NCIT_C185532 subClassOf NCIT_C7057 @default.
- NCIT_C185532 subClassOf NCIT_C77140 @default.