Familial Hemophagocytic Lymphohistiocytosis Type 5

Preferred Label : Familial Hemophagocytic Lymphohistiocytosis Type 5;

NCIt synonyms : STXBP2-FHLH; STXBP2-Related Familial Hemophagocytic Lymphohistiocytosis; FHL5;

NCIt definition : Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the STXBP2 gene.;

NCI Metathesaurus CUI : CL1922690;

Details

Origin ID

C203464;

UMLS CUI

C2751293;

Disease may have findings
- Fever [NCIt concept]
- Hepatomegaly [NCIt concept]
- Lymphadenopathy [NCIt concept]
- Pancytopenia [NCIt concept]
- Splenomegaly [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease [OMIM Phenotype]
- hemophagocytic lymphohistiocytosis, familial, 5 [MeSH Supplementary Concept]
- hemophagocytic lymphohistiocytosis, familial, 5 [MeSH concept]
disease_has_abnormal_cell
- Atypical Histiocyte [NCIt concept]
disease_has_finding
- Hemophagocytosis [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Histiocytosis [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- STXBP2 Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
- Histiocyte [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- STXBP2 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- STXBP2 Gene [NCIt concept]
- STXBP2 wt Allele [NCIt concept]

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