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- NCIT_C156899 IAO_0000115 "A laboratory finding indicating that the subject expresses abnormal hemoglobin containing 2 variant forms of the hemoglobin subunit beta protein (HBB). One HBB protein variant has the amino acid substitution glutamic acid to valine at residue 6, which is associated with the formation of hemoglobin S (HbS), while the other variant has a glutamic acid to lysine substitution at residue 121, which is associated with the formation of hemoglobin O-Arab (HbO(Arab)). Subjects expressing this compound heterozygous HBB genotype may have severe sickling hemoglobinopathy with clinical manifestations similar to those of homozygous sickle cell anemia." @default.
- NCIT_C156899 NCIT_A13 NCIT_C84951 @default.
- NCIT_C156899 NCIT_NHC0 "C156899" @default.
- NCIT_C156899 NCIT_P106 "Laboratory or Test Result" @default.
- NCIT_C156899 NCIT_P107 "Hemoglobin S/O-Arab Heterozygote" @default.
- NCIT_C156899 NCIT_P108 "Hemoglobin S/O-Arab Heterozygote" @default.
- NCIT_C156899 NCIT_P171 "10203101" @default.
- NCIT_C156899 NCIT_P207 "C4017521" @default.
- NCIT_C156899 NCIT_P322 "CTRP" @default.
- NCIT_C156899 NCIT_P98 "The amino acid residue numbering for the hemoglobin subunit beta protein variants in this concept do not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis." @default.
- NCIT_C156899 normalizedInformationContent "100" @default.
- NCIT_C156899 referenceCount "1" @default.
- NCIT_C156899 hasExactSynonym "BS/BO-Arab" @default.
- NCIT_C156899 hasExactSynonym "HBB Heterozygous Hemoglobin S with O-Arab" @default.
- NCIT_C156899 hasExactSynonym "Hb S/O Arab" @default.
- NCIT_C156899 hasExactSynonym "Hb S/O(Arab)" @default.
- NCIT_C156899 hasExactSynonym "Hb S/O-Arab" @default.
- NCIT_C156899 hasExactSynonym "HbS/O Arab" @default.
- NCIT_C156899 hasExactSynonym "HbS/O-Arab" @default.
- NCIT_C156899 hasExactSynonym "HbSO Arab" @default.
- NCIT_C156899 hasExactSynonym "HbSO-Arab" @default.
- NCIT_C156899 hasExactSynonym "Hemoglobin Beta Heterozygous Hemoglobin S Plus O-Arab Genotype" @default.
- NCIT_C156899 hasExactSynonym "Hemoglobin S/Hemoglobin O-Arab Double Heterozygote" @default.
- NCIT_C156899 hasExactSynonym "Hemoglobin S/O(Arab)" @default.
- NCIT_C156899 hasExactSynonym "Hemoglobin S/O-Arab Double Heterozygote" @default.
- NCIT_C156899 hasExactSynonym "Hemoglobin S/O-Arab Heterozygote" @default.
- NCIT_C156899 hasExactSynonym "Hemoglobin S/O-Arab" @default.
- NCIT_C156899 inSubset NCIT_C116977 @default.
- NCIT_C156899 inSubset NCIT_C118168 @default.
- NCIT_C156899 inSubset NCIT_C142799 @default.
- NCIT_C156899 inSubset NCIT_C142800 @default.
- NCIT_C156899 type Class @default.
- NCIT_C156899 isDefinedBy ncit.owl @default.
- NCIT_C156899 label "Hemoglobin S/O-Arab Heterozygote" @default.
- NCIT_C156899 subClassOf NCIT_C103223 @default.
- NCIT_C156899 subClassOf NCIT_C156899 @default.
- NCIT_C156899 subClassOf NCIT_C185500 @default.
- NCIT_C156899 subClassOf NCIT_C185523 @default.
- NCIT_C156899 subClassOf NCIT_C3367 @default.
- NCIT_C156899 subClassOf NCIT_C36292 @default.
- NCIT_C156899 subClassOf NCIT_C7057 @default.
- NCIT_C156899 subClassOf NCIT_C77140 @default.