loading...| Preferred Name | Familial Hemophagocytic Lymphohistiocytosis | |
| Synonyms |
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| Definitions |
A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C61276 |
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| code |
C61276 |
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| Contributing_Source |
Cellosaurus CTRP |
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| definition |
A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly. |
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| Display_Name |
Primary Hemophagocytic Lymphohistiocytosis |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Familial Hemophagocytic Lymphohistiocytosis |
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| Legacy Concept Name |
Familiar_Hemophagocytic_Lymphohistiocytosis |
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| Preferred_Name |
Familial Hemophagocytic Lymphohistiocytosis |
|
| prefixIRI |
NCIT:C61276 |
|
| prefLabel |
Familial Hemophagocytic Lymphohistiocytosis |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0272199 |
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| subClassOf |