loading...| Preferred Name |
Chediak-Higashi Syndrome |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C2941 |
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| ALT_DEFINITION |
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. |
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| code |
C2941 |
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| Contributing_Source |
Cellosaurus NICHD |
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| definition |
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. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Chediak-Higashi Syndrome |
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| Legacy Concept Name |
Chediak-Higashi_Syndrome |
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| Preferred_Name |
Chediak-Higashi Syndrome |
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| prefixIRI |
NCIT:C2941 |
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| prefLabel |
Chediak-Higashi Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0007965 |
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| subClassOf |