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- NCIT_C2941 IAO_0000115 "A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man." @default.
- NCIT_C2941 NCIT_NHC0 "C2941" @default.
- NCIT_C2941 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C2941 NCIT_P108 "Chediak-Higashi Syndrome" @default.
- NCIT_C2941 NCIT_P207 "C0007965" @default.
- NCIT_C2941 NCIT_P322 "Cellosaurus" @default.
- NCIT_C2941 NCIT_P322 "NICHD" @default.
- NCIT_C2941 NCIT_P325 "An autosomal recessive syndrome characterized by immune deficiency, partial oculocutaneous albinism, a bleeding disorder due to deficient platelet dense bodies, neutropenia, neutrophils with impaired chemotaxis and bactericidal activity, recurrent infection, and abnormal natural killer (NK) cell function." @default.
- NCIT_C2941 NCIT_P366 "Chediak-Higashi_Syndrome" @default.
- NCIT_C2941 NCIT_R100 NCIT_C12219 @default.
- NCIT_C2941 NCIT_R100 NCIT_C12919 @default.
- NCIT_C2941 NCIT_R100 NCIT_C41165 @default.
- NCIT_C2941 NCIT_R101 NCIT_C12219 @default.
- NCIT_C2941 NCIT_R101 NCIT_C12919 @default.
- NCIT_C2941 NCIT_R101 NCIT_C41165 @default.
- NCIT_C2941 NCIT_R103 NCIT_C12219 @default.
- NCIT_C2941 NCIT_R103 NCIT_C12801 @default.
- NCIT_C2941 NCIT_R103 NCIT_C41168 @default.
- NCIT_C2941 NCIT_R104 NCIT_C12219 @default.
- NCIT_C2941 NCIT_R104 NCIT_C12508 @default.
- NCIT_C2941 NCIT_R104 NCIT_C21599 @default.
- NCIT_C2941 NCIT_R104 NCIT_C32725 @default.
- NCIT_C2941 NCIT_R176 NCIT_C16612 @default.
- NCIT_C2941 NCIT_R176 NCIT_C21295 @default.
- NCIT_C2941 NCIT_R176 NCIT_C24298 @default.
- NCIT_C2941 NCIT_R176 NCIT_C26006 @default.
- NCIT_C2941 NCIT_R176 NCIT_C28533 @default.
- NCIT_C2941 normalizedInformationContent "90.826665450122817" @default.
- NCIT_C2941 referenceCount "4" @default.
- NCIT_C2941 hasExactSynonym "Chediak-Higashi Syndrome" @default.
- NCIT_C2941 inSubset NCIT_C132009 @default.
- NCIT_C2941 inSubset NCIT_C165258 @default.
- NCIT_C2941 inSubset NCIT_C192842 @default.
- NCIT_C2941 inSubset NCIT_C90259 @default.
- NCIT_C2941 type Class @default.
- NCIT_C2941 isDefinedBy ncit.owl @default.
- NCIT_C2941 label "Chediak-Higashi Syndrome" @default.
- NCIT_C2941 subClassOf B376071132b7c507a8d0d056bffde63cd @default.
- NCIT_C2941 subClassOf Bc7ac41a64c05ae407e8cf394ead19cc5 @default.
- NCIT_C2941 subClassOf NCIT_C171089 @default.
- NCIT_C2941 subClassOf NCIT_C26323 @default.
- NCIT_C2941 subClassOf NCIT_C26324 @default.
- NCIT_C2941 subClassOf NCIT_C27351 @default.
- NCIT_C2941 subClassOf NCIT_C27551 @default.
- NCIT_C2941 subClassOf NCIT_C27873 @default.
- NCIT_C2941 subClassOf NCIT_C28193 @default.
- NCIT_C2941 subClassOf NCIT_C2941 @default.
- NCIT_C2941 subClassOf NCIT_C2991 @default.
- NCIT_C2941 subClassOf NCIT_C3101 @default.
- NCIT_C2941 subClassOf NCIT_C3131 @default.
- NCIT_C2941 subClassOf NCIT_C3507 @default.
- NCIT_C2941 subClassOf NCIT_C35814 @default.
- NCIT_C2941 subClassOf NCIT_C53529 @default.
- NCIT_C2941 subClassOf NCIT_C53531 @default.
- NCIT_C2941 subClassOf NCIT_C7057 @default.