Preferred Name |
Cyclic Neutropenia |
|
Synonyms |
|
|
Definitions |
A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C3820 |
|
ALT_DEFINITION |
A chronic condition that affects neutrophils (a type of white blood cell). In cyclic neutropenia, the number of neutrophils in the blood goes in cycles from normal to low and back to normal again. Symptoms include fever, inflamed mucous membranes in the mouth, and infections. A hematologic disorder caused by a mutation in the ELANE (ELA2) gene. Clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. |
|
code |
C3820 |
|
Contributing_Source |
Cellosaurus NICHD |
|
definition |
A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. |
|
in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
label |
Cyclic Neutropenia |
|
Legacy Concept Name |
Cyclic_Neutropenia |
|
Preferred_Name |
Cyclic Neutropenia |
|
prefixIRI |
NCIT:C3820 |
|
prefLabel |
Cyclic Neutropenia |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0221023 |
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subClassOf |