Familial Hemophagocytic Lymphohistiocytosis Type 2

Preferred Label : Familial Hemophagocytic Lymphohistiocytosis Type 2;

NCIt synonyms : PRF1-FHLH; PRF1-Related Familial Hemophagocytic Lymphohistiocytosis; FHL2;

NCIt definition : Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the PRF1 gene.;

NCI Metathesaurus CUI : CL1922688;

Details

Origin ID

C203462;

UMLS CUI

C1863727;

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, 2 [OMIM Phenotype]
- Hemophagocytic lymphohistiocytosis, familial, 2 [MeSH concept]
- hemophagocytic lymphohistiocytosis, familial, 2 [MeSH Supplementary 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
- PRF1 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
- PRF1 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- PRF1 Gene [NCIt concept]
- PRF1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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