Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bff0bc4a8f000a372960e6b63643c623f> ?p ?o ?g. }
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- Bff0bc4a8f000a372960e6b63643c623f NCIT_P378 "NCI" @default.
- Bff0bc4a8f000a372960e6b63643c623f type Axiom @default.
- Bff0bc4a8f000a372960e6b63643c623f annotatedProperty IAO_0000115 @default.
- Bff0bc4a8f000a372960e6b63643c623f annotatedSource NCIT_C2941 @default.
- Bff0bc4a8f000a372960e6b63643c623f annotatedTarget "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.