Familial Hemophagocytic Lymphohistiocytosis Type 3

Preferred Label : Familial Hemophagocytic Lymphohistiocytosis Type 3;

NCIt synonyms : UNC13D-FHLH; FHL3; UNC13D-Related Familial Hemophagocytic Lymphohistiocytosis;

NCIt definition : Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the UNC13D gene.;

NCI Metathesaurus CUI : CL1922691;

Details

Origin ID

C203463;

UMLS CUI

C1837174;

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, 3 [OMIM Phenotype]
- Hemophagocytic lymphohistiocytosis, familial, 3 [MeSH concept]
- hemophagocytic lymphohistiocytosis, familial, 3 [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
- UNC13D 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
- UNC13D Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- UNC13D Gene [NCIt concept]
- UNC13D wt Allele [NCIt concept]

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