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Diseases
Familial Hemophagocytic Lymphocytosis
familial hemophagocytic lymphocytosis
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Familial Hemophagocytic Lymphocytosis
- Standard Disease Name
- familial hemophagocytic lymphocytosis
- MeSH Tree
- No data
- ICD-10
- D76.1
Identifiers
- DO ID
- No data
- MeSH ID
- D051359
- OMIM ID
- 267700
- UMLS ID
- C0272199
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D: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.|MSH2017_2016_08_12:Rare form of hemophagocytic lymphohistiocytosis with multiorgan involvement seen in infants and young children
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Related Targets
target disease8 Targets