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Metadata
ID DOID:0110922
Name familial hemophagocytic lymphohistiocytosis 2
Definition A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.
https://www.ncbi.nlm.nih.gov/pubmed/10583959
Xrefs

GARD:9922

OMIM:603553

Subsets

DO_rare_slim

Synonyms

FHL2 [EXACT]

HLH2 [EXACT]

HPLH2 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a hemophagocytic lymphohistiocytosis

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